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 SLC5A3 6526 broad.mit.edu 37 21 35467771 35467771 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr21:35467771C>T ENST00000381151.3 + 2 786 c.274C>T c.(274-276)Ctt>Ttt p.L92F MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 92 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 GCTTTTACAACTTCTGGGATG 0.478000 14 88 0 0 1 0 0 ZNF264 9422 broad.mit.edu 37 19 57716772 57716772 + Silent SNP T T A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:57716772T>A ENST00000263095.6 + 3 582 c.168T>A c.(166-168)ccT>ccA p.P56P ZNF264_ENST00000536056.1_Silent_p.P56P NM_003417.4 NP_003408.1 O43296 ZN264_HUMAN zinc finger protein 264 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) CAGGGTGTCCTGTTCCCAAAG 0.512000 3 15 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2613121 2613121 + Splice_Site SNP A A G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:2613121A>G ENST00000402050.2 + 6 648 c.465_splice c.e6+1 p.K155_splice IQCE_ENST00000438376.2_Splice_Site_p.K139_splice|IQCE_ENST00000325979.7_Splice_Site_p.K90_splice|IQCE_ENST00000404984.1_Splice_Site_p.K104_splice NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 155 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) GAGTTAAAGAAGGTAGTATTT 0.393000 8 32 0 0 1 0 0 ABCG2 9429 broad.mit.edu 37 4 89013473 89013473 + Nonsense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr4:89013473C>T ENST00000237612.3 - 16 2426 c.1881G>A c.(1879-1881)tgG>tgA p.W627* ABCG2_ENST00000515655.1_3'UTR NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 627 ABC transmembrane type-2. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CGTGATTCTTCCACAAGCCCC 0.363000 8 53 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13871034 13871034 + Missense_Mutation SNP G G A rs146689446 TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:13871034G>A ENST00000265104.4 - 24 3780 c.3676C>T c.(3676-3678)Cgg>Tgg p.R1226W CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1226 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATCTCACTCCGGTATTTTTTG 0.403000 Kartagener syndrome 15 78 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76556015 76556015 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:76556015C>T ENST00000307431.8 + 18 2998 c.2613C>T c.(2611-2613)aaC>aaT p.N871N CNTNAP4_ENST00000476707.1_Silent_p.N875N|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Silent_p.N799N|CNTNAP4_ENST00000377504.4_Silent_p.N823N NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 872 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding p.N871K(1)|p.N799K(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CCCACTTCAACGACAACCAGT 0.502000 20 145 0 0 1 0 0 NACA2 342538 broad.mit.edu 37 17 59668532 59668532 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr17:59668532C>T ENST00000521764.1 - 1 31 c.10G>A c.(10-12)Gaa>Aaa p.E4K NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 4 protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) TCTGTGGCTTCGCCCGGCATT 0.582000 4 64 0 0 1 0 0 MTF1 4520 broad.mit.edu 37 1 38287981 38287981 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:38287981C>T ENST00000373036.4 - 9 1719 c.1579G>A c.(1579-1581)Gag>Aag p.E527K NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 527 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GGCAGGGGCTCAGTAGTACTT 0.557000 12 58 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629542 9629542 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:9629542C>T ENST00000382492.2 - 1 921 c.603G>A c.(601-603)ctG>ctA p.L201L CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 201 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 TGTGCCTCCCCAGAGAGAAAA 0.498000 4 83 0 0 1 0 0 PLCD1 5333 broad.mit.edu 37 3 38058144 38058144 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr3:38058144C>T ENST00000463876.1 - 3 682 c.329G>A c.(328-330)cGt>cAt p.R110H PLCD1_ENST00000479619.1_5'UTR|PLCD1_ENST00000334661.4_Missense_Mutation_p.R89H NM_001130964.1 NP_001124436.1 P51178 PLCD1_HUMAN phospholipase C, delta 1 89 PH. intracellular signal transduction|lipid catabolic process|phospholipid metabolic process cytoplasm calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GGGCACATCACGGGCGAACTT 0.612000 5 14 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65401690 65401690 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:65401690G>A ENST00000355703.3 + 28 5103 c.4564G>A c.(4564-4566)Ggc>Agc p.G1522S PCNXL3_ENST00000531280.1_3'UTR NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1522 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GCGGGTGCCCGGCTATGCCGA 0.622000 3 28 0 0 1 0 0 FLJ33360 401172 broad.mit.edu 37 5 6337355 6337355 + RNA SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:6337355C>T ENST00000507444.1 - 0 50 NR_028351.1 ACAGCTTTTTCGATGCTCACT 0.527000 11 77 0 0 1 0 0 NECAP2 55707 broad.mit.edu 37 1 16785408 16785408 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:16785408G>A ENST00000443980.2 + 7 765 c.739G>A c.(739-741)Gtg>Atg p.V247M NECAP2_ENST00000457722.2_3'UTR|NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000504551.2_3'UTR NM_001145277.1 NP_001138749.1 Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 249 endocytosis|protein transport clathrin vesicle coat|coated pit|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TTTTCCTCATGTGACTTCTGG 0.577000 9 39 0 0 1 0 0 C4orf40 401137 broad.mit.edu 37 4 71024299 71024299 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr4:71024299G>A ENST00000344526.5 + 3 519 c.330G>A c.(328-330)ccG>ccA p.P110P C4orf40_ENST00000502294.1_Silent_p.P110P|C4orf40_ENST00000502441.2_3'UTR NM_214711.3 NP_999876.2 Q6MZM9 CD040_HUMAN chromosome 4 open reading frame 40 110 extracellular region breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGGGTTTCCCGTTTGTCCCTC 0.532000 45 211 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13048862 13048862 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr18:13048862C>T ENST00000506447.1 + 16 2152 c.2072C>T c.(2071-2073)aCt>aTt p.T691I CEP192_ENST00000325971.8_Missense_Mutation_p.T95I|CEP192_ENST00000430049.2_Missense_Mutation_p.T216I NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 286 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTCTAGGACACTTTCTTCATG 0.398000 15 34 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19468218 19468218 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:19468218C>T ENST00000375267.2 - 56 8236 c.8233G>A c.(8233-8235)Ggg>Agg p.G2745R UBR4_ENST00000375254.3_Missense_Mutation_p.G2745R|UBR4_ENST00000375217.2_Missense_Mutation_p.G2773R|UBR4_ENST00000375226.2_Missense_Mutation_p.G2756R Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2745 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTCGGGATCCCTGATGACTGC 0.507000 14 108 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126211861 126211861 + Missense_Mutation SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr6:126211861G>T ENST00000368357.3 + 11 2353 c.2001G>T c.(1999-2001)atG>atT p.M667I NCOA7_ENST00000392477.2_Missense_Mutation_p.M667I|NCOA7_ENST00000229634.9_Missense_Mutation_p.M552I NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 667 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) GAAAACCAATGAGAAAATCCT 0.473000 5 47 0.000602214 0.000624939 1 1 0 CCT4 10575 broad.mit.edu 37 2 62104184 62104184 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:62104184C>T ENST00000394440.3 - 7 944 c.648G>A c.(646-648)ggG>ggA p.G216G AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Silent_p.G160G|CCT4_ENST00000544079.1_Silent_p.G186G|CCT4_ENST00000544185.1_Silent_p.G66G NM_006430.3 NP_006421.2 P50991 TCPD_HUMAN chaperonin containing TCP1, subunit 4 (delta) 216 'de novo' posttranslational protein folding melanosome|microtubule organizing center|nucleus ATP binding|unfolded protein binding breast(1)|large_intestine(2)|lung(6)|ovary(2) 11 Lung NSC(7;0.035)|all_lung(7;0.0691) LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221) CATCAATTGTCCCACTAAGGA 0.398000 9 48 0 0 1 0 0 OR2T6 254879 broad.mit.edu 37 1 248551037 248551037 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:248551037G>A ENST00000355728.2 + 1 128 c.128G>A c.(127-129)gGg>gAg p.G43E NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 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) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATAGCTAATGGGGTCATGATC 0.473000 7 95 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64906779 64906779 + Missense_Mutation SNP T T A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:64906779T>A ENST00000231524.9 - 5 1108 c.737A>T c.(736-738)gAt>gTt p.D246V TRIM23_ENST00000381018.3_Missense_Mutation_p.D246V|TRIM23_ENST00000274327.7_Missense_Mutation_p.D246V NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 246 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) TCTGGAATAATCTGAGATTTC 0.393000 7 36 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855611 12855611 + Missense_Mutation SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:12855611C>A ENST00000332296.7 + 4 994 c.891C>A c.(889-891)aaC>aaA p.N297K PRAMEF1_ENST00000400814.3_Missense_Mutation_p.N52K NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 297 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTTGGAGAACTTGGAATTAA 0.468000 4 112 5.4927e-09 6.08252e-09 1 1 0 GRID1 2894 broad.mit.edu 37 10 87373297 87373297 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:87373297C>T ENST00000327946.7 - 15 2553 c.2468G>A c.(2467-2469)gGc>gAc p.G823D GRID1_ENST00000536331.1_Missense_Mutation_p.G394D NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 823 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) GAGGGATTTGCCGTCGGCCTG 0.652000 Multiple Myeloma(13;0.14) 4 115 0 0 1 0 0 ATG9B 285973 broad.mit.edu 37 7 150721007 150721007 + Translation_Start_Site SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:150721007G>A ENST00000444312.1 - 0 579 ATG9B_ENST00000377974.2_Silent_p.H168H|ATG9B_ENST00000605938.1_Silent_p.H168H|ATG9B_ENST00000605952.1_Silent_p.H168H|ATG9B_ENST00000494791.1_5'UTR Q674R7 ATG9B_HUMAN autophagy related 9B autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCTCCTCCCCGTGGATGGGTG 0.612000 3 6 0 0 1 0 0 ZDHHC6 64429 broad.mit.edu 37 10 114194100 114194100 + Silent SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:114194100T>C ENST00000369405.3 - 7 1281 c.858A>G c.(856-858)ggA>ggG p.G286G ZDHHC6_ENST00000369404.3_Silent_p.G282G NM_022494.1 NP_071939.1 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 286 integral to membrane acyltransferase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) GCCACTCAAGTCCATCTCCTT 0.418000 4 65 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42171842 42171842 + Missense_Mutation SNP A A G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr8:42171842A>G ENST00000520810.1 + 9 881 c.695A>G c.(694-696)cAt>cGt p.H232R IKBKB_ENST00000520835.1_Missense_Mutation_p.H230R|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000379708.3_Missense_Mutation_p.H9R|IKBKB_ENST00000416505.2_Missense_Mutation_p.H173R NM_001556.2 NP_001547.1 O14920 IKKB_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 232 Protein kinase. anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|identical protein binding|IkappaB kinase activity breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) ATTTGCAGGCATTCAAAAGTG 0.423000 18 176 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24950790 24950790 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:24950790G>A ENST00000289968.6 - 17 1688 c.1619C>T c.(1618-1620)cCa>cTa p.P540L ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Intron NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 540 Pro-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) AGGGGGCTCTGGGCCAGCGGG 0.677000 3 24 0 0 1 0 0 STK32C 282974 broad.mit.edu 37 10 134039104 134039104 + Silent SNP G G T rs79590008 by1000genomes TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:134039104G>T ENST00000368622.1 - 6 729 c.348C>A c.(346-348)acC>acA p.T116T STK32C_ENST00000368625.4_Silent_p.T246T Q86UX6 ST32C_HUMAN serine/threonine kinase 32C 233 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) TGTTGAAGTCGGTCAGGTGTG 0.617000 31 147 7.11191e-15 8.09286e-15 1 1 0 LDB3 11155 broad.mit.edu 37 10 88476357 88476357 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:88476357C>T ENST00000429277.2 + 10 1665 c.1520C>T c.(1519-1521)cCg>cTg p.P507L LDB3_ENST00000352360.5_Missense_Mutation_p.P245L|LDB3_ENST00000458213.2_Missense_Mutation_p.P392L|LDB3_ENST00000361373.4_Missense_Mutation_p.P502L|LDB3_ENST00000263066.6_Missense_Mutation_p.P392L NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 502 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 AAGTTTGCCCCGGGCAAGAGC 0.672000 20 116 0 0 1 0 0 ARHGEF38 54848 broad.mit.edu 37 4 106474093 106474093 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr4:106474093G>A ENST00000420470.2 + 1 315 c.171G>A c.(169-171)agG>agA p.R57R ARHGEF38_ENST00000265154.2_Silent_p.R57R NM_001242729.1 NP_001229658.1 Q9NXL2 ARH38_HUMAN Rho guanine nucleotide exchange factor (GEF) 38 57 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3) 11 AATCTGACAGGACTGAATACA 0.458000 8 39 0 0 1 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141321414 141321414 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr8:141321414C>T ENST00000389328.4 - 10 1863 c.1849G>A c.(1849-1851)Gag>Aag p.E617K TRAPPC9_ENST00000389327.3_Missense_Mutation_p.E510K|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.E519K NM_031466.5 NP_113654.4 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 519 cell differentiation endoplasmic reticulum|Golgi apparatus breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 47 GCGATGGGCTCCATGGTCCCA 0.537000 9 71 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186292894 186292894 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:186292894G>A ENST00000367478.3 - 43 6517 c.6221C>T c.(6220-6222)cCg>cTg p.P2074L NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 2074 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TGGGCGTCTCGGTGACTGAGG 0.502000 T NTRK1 papillary thyroid 4 111 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171338283 171338283 + Nonsense_Mutation SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr3:171338283G>T ENST00000356327.5 - 23 2577 c.2507C>A c.(2506-2508)tCa>tAa p.S836* PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000351298.4_Nonsense_Mutation_p.S874*|PLD1_ENST00000340989.4_Nonsense_Mutation_p.S874* NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 874 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ACCACAGAATGATATGTAATT 0.313000 5 57 0.00116845 0.00120496 1 1 0 CACNA1B 774 broad.mit.edu 37 9 140772598 140772598 + Silent SNP C C G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr9:140772598C>G ENST00000371372.1 + 1 358 c.213C>G c.(211-213)gtC>gtG p.V71V CACNA1B_ENST00000371355.4_Silent_p.V71V|CACNA1B_ENST00000371357.1_Silent_p.V71V|CACNA1B_ENST00000371363.1_Silent_p.V71V|CACNA1B_ENST00000277551.2_Silent_p.V71V|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000277549.5_5'UTR NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 71 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCTTCACCGTCAACCGCTCGC 0.662000 3 22 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58944698 58944698 + Missense_Mutation SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:58944698G>T ENST00000254166.3 - 3 2513 c.2113C>A c.(2113-2115)Cat>Aat p.H705N NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 705 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) ACTCAGGTATGAATCTTTTTA 0.433000 19 105 4.96729e-08 5.46402e-08 1 1 0 FUT3 2525 broad.mit.edu 37 19 5844507 5844507 + Missense_Mutation SNP G G T rs141188376 TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:5844507G>T ENST00000303225.6 - 3 978 c.344C>A c.(343-345)tCc>tAc p.S115Y FUT3_ENST00000458379.2_Missense_Mutation_p.S115Y|FUT3_ENST00000589620.1_Missense_Mutation_p.S115Y|FUT3_ENST00000589918.1_Missense_Mutation_p.S115Y NM_000149.3 NP_000140.1 P21217 FUT3_HUMAN fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) 115 protein glycosylation Golgi cisterna membrane|integral to membrane|membrane fraction 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 CTTAGGGTTGGACATGATATC 0.622000 15 111 7.93312e-07 8.66864e-07 1 1 0 REG1P 5969 broad.mit.edu 37 2 79363180 79363180 + RNA SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:79363180C>A ENST00000444841.1 - 0 1158 CAGGGACCCACTACTCCACTG 0.532000 3 24 0.004672 0.00478807 1 1 0 C19orf35 374872 broad.mit.edu 37 19 2276297 2276297 + Missense_Mutation SNP C C G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:2276297C>G ENST00000342063.3 - 4 897 c.804G>C c.(802-804)gaG>gaC p.E268D NM_198532.2 NP_940934.1 Q6ZS72 CS035_HUMAN chromosome 19 open reading frame 35 268 large_intestine(1)|lung(5)|pancreas(1)|prostate(1) 8 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) GCGTGCAGGCCTCCGCCAGCC 0.741000 3 12 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32893410 32893410 + Silent SNP G G A rs80359341 TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr13:32893410G>A ENST00000544455.1 + 3 491 c.264G>A c.(262-264)ctG>ctA p.L88L BRCA2_ENST00000380152.3_Silent_p.L88L NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 88 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGCTGACTCTGCCGCTGTACC 0.363000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 12 53 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141272298 141272298 + Silent SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:141272298T>C ENST00000389484.3 - 51 9164 c.8193A>G c.(8191-8193)aaA>aaG p.K2731K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2731 LDL-receptor class A 16. 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) TAGAAATACATTTTTGTGCGG 0.378000 TSP Lung(27;0.18) 14 61 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1959683 1959683 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:1959683G>A ENST00000381558.1 + 15 993 c.714G>A c.(712-714)ggG>ggA p.G238G TNNT3_ENST00000381548.3_Silent_p.G248G|TNNT3_ENST00000381549.3_Silent_p.G238G|TNNT3_ENST00000381579.3_Silent_p.G238G|TNNT3_ENST00000360603.3_Silent_p.G240G|TNNT3_ENST00000278317.6_Silent_p.G246G|TNNT3_ENST00000397304.2_Silent_p.G227G|TNNT3_ENST00000446240.1_Silent_p.G227G|TNNT3_ENST00000397301.1_Silent_p.G257G|TNNT3_ENST00000381589.3_Silent_p.G244G|TNNT3_ENST00000381561.4_Silent_p.G249G P45378 TNNT3_HUMAN troponin T type 3 (skeletal, fast) 257 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGAAGGCTGGGACCCCAGCCA 0.662000 25 82 0 0 1 0 0 LENG9 94059 broad.mit.edu 37 19 54973383 54973383 + Missense_Mutation SNP C C G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:54973383C>G ENST00000333834.4 - 1 1511 c.1393G>C c.(1393-1395)Gag>Cag p.E465Q NM_198988.1 NP_945339.2 Q96B70 LENG9_HUMAN leukocyte receptor cluster (LRC) member 9 465 RNA metabolic process intracellular catalytic activity|nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5) 11 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.134) AGGGTGAACTCCAGCTTGGGG 0.652000 22 118 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8212660 8212660 + Missense_Mutation SNP T T G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:8212660T>G ENST00000307637.4 - 2 325 c.122A>C c.(121-123)aAt>aCt p.N41T NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 41 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) CACCAGCCCATTGCCTGGCAA 0.537000 18 80 0 0 1 0 0 MIR3654 100500804 broad.mit.edu 37 11 62348581 62348581 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:62348581G>A ENST00000496634.2 - 4 732 c.687C>T c.(685-687)ccC>ccT p.P229P TUT1_ENST00000476907.1_Silent_p.P229P|TUT1_ENST00000308436.7_Silent_p.P267P NS(1) 1 CACTCACCTGGGGCTCTTCCA 0.522000 22 111 0 0 1 0 0 SEZ6 124925 broad.mit.edu 37 17 27308504 27308504 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr17:27308504G>A ENST00000317338.12 - 2 1037 c.609C>T c.(607-609)ggC>ggT p.G203G SEZ6_ENST00000335960.6_Silent_p.G203G|SEZ6_ENST00000442608.3_Silent_p.G203G|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000360295.9_Silent_p.G203G Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 203 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) CGATCCCTGCGCCCTGGGACA 0.602000 3 16 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162513 90162513 + RNA SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:90162513T>C ENST00000567960.1 + 0 1249 TUBB8P7_ENST00000564451.1_RNA p.N415N(2) GCAACATGAATGACCTGGTGT 0.537000 4 141 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192141 125192141 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:125192141G>A ENST00000431078.1 + 5 974 c.610G>A c.(610-612)Gtg>Atg p.V204M NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 204 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TCTCAAAGATGTGATCTCCCT 0.493000 8 67 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369553 20369553 + RNA SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:20369553G>A ENST00000593655.1 - 0 199 CCCAGTATTAGAAGGCTTTTC 0.448000 8 76 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263911 1263911 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:1263911C>T ENST00000447027.1 + 31 5868 c.5810C>T c.(5809-5811)cCc>cTc p.P1937L MUC5B_ENST00000529681.1_Missense_Mutation_p.P1934L|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1934 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. PPPKVLT -> GTPHVS (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGAACAGCTCCCCCTCCCAAA 0.642000 38 153 0 0 1 0 0 KCTD7 154881 broad.mit.edu 37 7 66103260 66103260 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:66103260G>A ENST00000275532.3 + 3 519 c.335G>A c.(334-336)cGc>cAc p.R112H KCTD7_ENST00000443322.1_Missense_Mutation_p.R112H NM_001167961.2|NM_153033.4 NP_001161433.1|NP_694578.1 Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 112 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity p.R112H(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AATTTCCTGCGCTCAGGGGAC 0.567000 12 97 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131107581 131107581 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr9:131107581C>T ENST00000300456.3 + 3 426 c.309C>T c.(307-309)acC>acT p.T103T SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 103 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 CCCACTGGACCTTCCGCCAGC 0.622000 9 48 0 0 1 0 0 KIAA0895L 653319 broad.mit.edu 37 16 67214239 67214239 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:67214239C>T ENST00000290881.7 - 3 1201 c.275G>A c.(274-276)cGg>cAg p.R92Q KIAA0895L_ENST00000561621.1_Missense_Mutation_p.R92Q|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R92Q|KIAA0895L_ENST00000563831.2_Intron Q68EN5 K895L_HUMAN KIAA0895-like 92 breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1) 17 GCCACGCCCCCGCCGGCCAGT 0.667000 9 23 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140580049 140580049 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:140580049C>T ENST00000354757.3 + 1 702 c.702C>T c.(700-702)gaC>gaT p.D234D PCDHB11_ENST00000536699.1_Intron NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 234 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGTTGTGGACATTAATGACA 0.507000 28 111 0 0 1 0 0 C5orf15 56951 broad.mit.edu 37 5 133295400 133295400 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:133295400G>A ENST00000231512.3 - 2 653 c.451C>T c.(451-453)Cca>Tca p.P151S C5orf15_ENST00000507191.1_5'UTR NM_020199.2 NP_064584.1 Q8NC54 KCT2_HUMAN chromosome 5 open reading frame 15 151 integral to membrane endometrium(2)|large_intestine(1)|lung(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02) TCATAGTCTGGTTCTCCATAA 0.473000 14 40 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187539163 187539163 + Silent SNP G G C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr4:187539163G>C ENST00000441802.2 - 10 8786 c.8577C>G c.(8575-8577)tcC>tcG p.S2859S NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2859 Cadherin 26. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TAATGGCAAAGGATTCAATGA 0.413000 HNSCC(5;0.00058) 20 67 0 0 1 0 0 ZBTB32 27033 broad.mit.edu 37 19 36205627 36205627 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:36205627C>T ENST00000392197.2 + 3 417 c.99C>T c.(97-99)atC>atT p.I33I ZBTB32_ENST00000262630.3_Silent_p.I33I Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 33 BTB. DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ATACTCTGATCACCGTAGGGA 0.642000 13 120 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202149674 202149674 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:202149674G>A ENST00000358485.4 + 8 1311 c.1115G>A c.(1114-1116)tGt>tAt p.C372Y CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.C330Y|CASP8_ENST00000432109.2_Missense_Mutation_p.C313Y|CASP8_ENST00000323492.7_Missense_Mutation_p.C298Y|CASP8_ENST00000264274.9_Missense_Mutation_p.C229Y NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 313 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TTCATCTGCTGTATCCTCTCC 0.483000 HNSCC(4;0.00038) 36 119 0 0 1 0 0 FAM160A2 84067 broad.mit.edu 37 11 6233034 6233034 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:6233034G>A ENST00000265978.4 - 12 3021 c.2663C>T c.(2662-2664)gCc>gTc p.A888V FAM160A2_ENST00000449352.2_Missense_Mutation_p.A874V|FAM160A2_ENST00000529360.1_5'UTR NM_001098794.1|NM_032127.3 NP_001092264.1|NP_115503.2 Q8N612 F16A2_HUMAN family with sequence similarity 160, member A2 874 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CGCCTGCCGGGCCCTGGTTGG 0.607000 5 242 0 0 1 0 0 GTSE1 51512 broad.mit.edu 37 22 46704348 46704348 + Nonsense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr22:46704348G>A ENST00000454366.1 + 4 482 c.270G>A c.(268-270)tgG>tgA p.W90* NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 71 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) CCTTTGCCTGGAGCCCTCTGG 0.527000 17 177 0 0 1 0 0 RPE65 6121 broad.mit.edu 37 1 68896860 68896860 + Splice_Site SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:68896860C>A ENST00000262340.5 - 13 1392 c.e13-1 NM_000329.2 NP_000320.1 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 65kDa visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 35 GCTTACAGAGCTGTTTGTGAG 0.373000 4 35 0.00909568 0.00915114 1 1 0 EPHA5 2044 broad.mit.edu 37 4 66217121 66217121 + Missense_Mutation SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr4:66217121C>A ENST00000273854.3 - 14 3094 c.2494G>T c.(2494-2496)Gcc>Tcc p.A832S EPHA5_ENST00000432638.2_Missense_Mutation_p.A669S|EPHA5_ENST00000354839.4_Missense_Mutation_p.A810S|EPHA5_ENST00000511294.1_Missense_Mutation_p.A833S NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 832 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 GTGGTGTAGGCTGCCTCGGGA 0.408000 TSP Lung(17;0.13) 10 86 3.07112e-06 3.29048e-06 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49438264 49438264 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:49438264G>A ENST00000301067.7 - 20 5004 c.5005C>T c.(5005-5007)Ccc>Tcc p.P1669S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GGGCTGACGGGGCCCTCCAGT 0.532000 OREG0021780 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 65 0 0 1 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 36 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561563 145561563 + Silent SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:145561563T>C ENST00000355594.4 + 10 1338 c.1251T>C c.(1249-1251)caT>caC p.H417H NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 417 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATGAAGTCCATGGAAGGTCCC 0.542000 11 85 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2415714 2415714 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:2415714C>T ENST00000332578.3 + 10 1518 c.1518C>T c.(1516-1518)ggC>ggT p.G506G NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 506 Peptidase S1 2. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 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) GGGTCGTGGGCGGGTTCGGAG 0.677000 4 50 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225740797 225740797 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:225740797G>A ENST00000409592.3 - 8 984 c.871C>T c.(871-873)Ctc>Ttc p.L291F DOCK10_ENST00000258390.7_Missense_Mutation_p.L297F Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 297 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CTCCCTTGGAGGGGCCCCTCA 0.512000 5 54 0 0 1 0 0 FUZ 80199 broad.mit.edu 37 19 50310533 50310533 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:50310533C>T ENST00000313777.4 - 11 1295 c.1132G>A c.(1132-1134)Gtg>Atg p.V378M FUZ_ENST00000528094.1_Missense_Mutation_p.V342M|FUZ_ENST00000445575.2_Splice_Site|FUZ_ENST00000533418.1_Missense_Mutation_p.V328M NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 378 Leu-rich. cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) ACCAGACGCACTCCTGTGCCT 0.642000 10 47 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629097 47629097 + Missense_Mutation SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:47629097C>A ENST00000546455.1 + 4 982 c.251C>A c.(250-252)tCc>tAc p.S84Y PCED1B_ENST00000432328.1_Missense_Mutation_p.S84Y PC-esterase domain containing 1B GAGTTCCGCTCCGACCACCAT 0.602000 20 86 8.34094e-07 9.05431e-07 1 1 0 PLD1 5337 broad.mit.edu 37 3 171406534 171406534 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr3:171406534C>T ENST00000356327.5 - 14 1541 c.1471G>A c.(1471-1473)Gag>Aag p.E491K PLD1_ENST00000342215.6_Missense_Mutation_p.E491K|PLD1_ENST00000351298.4_Missense_Mutation_p.E491K|PLD1_ENST00000340989.4_Missense_Mutation_p.E491K NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 491 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGTCTGTGCTCATTGTCGTCC 0.502000 8 69 0 0 1 0 0 FKBPL 63943 broad.mit.edu 37 6 32096926 32096926 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr6:32096926C>T ENST00000375156.3 - 2 902 c.632G>A c.(631-633)aGg>aAg p.R211K NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 211 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity ACGTTCTTCCCTGGCCAGGGC 0.602000 22 95 0 0 1 0 0 ITGAV 3685 broad.mit.edu 37 2 187455132 187455132 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:187455132C>T ENST00000261023.3 + 1 341 c.67C>T c.(67-69)Ctc>Ttc p.L23F ITGAV_ENST00000374907.3_Missense_Mutation_p.L23F NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 23 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TCTCTCGGGACTCCTGCTACC 0.672000 5 46 0 0 1 0 0 USP21 27005 broad.mit.edu 37 1 161130737 161130737 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:161130737C>T ENST00000368002.3 + 3 684 c.307C>T c.(307-309)Cca>Tca p.P103S USP21_ENST00000289865.8_Missense_Mutation_p.P103S|USP21_ENST00000368001.1_Missense_Mutation_p.P103S NM_001014443.2 NP_001014443.1 Q9UK80 UBP21_HUMAN ubiquitin specific peptidase 21 103 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3) 29 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TTTGCCTCTCCCATCTCGGAC 0.642000 12 65 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54475672 54475672 + Silent SNP C C T rs144498939 byFrequency TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chrX:54475672C>T ENST00000375135.3 - 15 2911 c.2178G>A c.(2176-2178)acG>acA p.T726T NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 726 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CCCGGATGGGCGTAGGTGCCC 0.602000 7 20 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 7955231 7955231 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr18:7955231G>A ENST00000332175.8 + 7 1988 c.951G>A c.(949-951)gaG>gaA p.E317E PTPRM_ENST00000444013.1_Silent_p.E104E|PTPRM_ENST00000400053.4_Silent_p.E255E|PTPRM_ENST00000400060.4_Silent_p.E317E|PTPRM_ENST00000580170.1_Silent_p.E317E NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 317 Fibronectin type-III 1. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TGGCCCGAGAGGTGGAGTACT 0.557000 14 43 0 0 1 0 0 MAP3K5 4217 broad.mit.edu 37 6 136926459 136926459 + Missense_Mutation SNP C C G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr6:136926459C>G ENST00000359015.4 - 19 2927 c.2567G>C c.(2566-2568)aGa>aCa p.R856T MAP3K5_ENST00000355845.4_Missense_Mutation_p.R103T NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 856 Protein kinase. activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TCCGTAGCCTCTTGGTCCTTT 0.413000 22 52 0 0 1 0 0 KIF18B 146909 broad.mit.edu 37 17 43009516 43009516 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr17:43009516C>T ENST00000587309.1 - 10 1356 c.1333G>A c.(1333-1335)Ggg>Agg p.G445R KIF18B_ENST00000590129.1_Missense_Mutation_p.G454R|KIF18B_ENST00000438933.2_Missense_Mutation_p.G445R|KIF18B_ENST00000339151.4_Missense_Mutation_p.G445R|KIF18B_ENST00000593135.1_Missense_Mutation_p.G433R NM_001264573.1 NP_001251503.1 kinesin family member 18B breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 21 Prostate(33;0.155) GCCTCCATCCCCAGACTCTCC 0.642000 10 28 0 0 1 0 0 CPNE7 27132 broad.mit.edu 37 16 89661966 89661966 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:89661966G>A ENST00000268720.5 + 16 1849 c.1719G>A c.(1717-1719)gcG>gcA p.A573A CPNE7_ENST00000566398.1_3'UTR|CPNE7_ENST00000319518.8_Silent_p.A498A NM_014427.4 NP_055242.1 Q9UBL6 CPNE7_HUMAN copine VII 573 VWFA. lipid metabolic process transporter activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2) 17 all_hematologic(23;0.0748) all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147) GTGAGCCCGCGCTCCGGGACA 0.662000 9 46 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132275460 132275460 + RNA SNP A A T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:132275460A>T ENST00000438378.2 + 0 1733 NR_026922.1 GATGATTCAGAAAGGTAAGTC 0.617000 3 26 0 0 1 0 0 CHMP4A 29082 broad.mit.edu 37 14 24682710 24682710 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr14:24682710G>A ENST00000347519.6 - 1 365 c.65C>T c.(64-66)cCt>cTt p.P22L AL136419.6_ENST00000565988.1_RNA NM_014169.3 NP_054888.2 charged multivesicular body protein 4A NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1) 9 GBM - Glioblastoma multiforme(265;0.0181) GCTCCTGGGAGGGTGATGTCT 0.657000 5 49 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19823218 19823218 + Missense_Mutation SNP A A T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:19823218A>T ENST00000344099.3 - 4 1010 c.872T>A c.(871-873)cTc>cAc p.L291H NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) AAAAGAACTGAGAAAACTGAA 0.388000 4 36 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045748 26045748 + Missense_Mutation SNP A A T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr6:26045748A>T ENST00000540144.1 + 1 110 c.110A>T c.(109-111)aAg>aTg p.K37M NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 37 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GGTGGCGTGAAGAAACCTCAT 0.632000 19 75 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94436372 94436372 + Missense_Mutation SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr4:94436372T>C ENST00000282020.4 + 13 2261 c.2003T>C c.(2002-2004)cTc>cCc p.L668P GRID2_ENST00000510992.1_Missense_Mutation_p.L573P NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 668 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TCAAGGTCTCTCCAGGACCTT 0.408000 5 21 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49612966 49612966 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:49612966C>T ENST00000374189.1 + 3 375 c.194C>T c.(193-195)aCt>aTt p.T65I MAPK8_ENST00000395611.3_Missense_Mutation_p.T65I|MAPK8_ENST00000360332.3_Missense_Mutation_p.T65I|MAPK8_ENST00000374174.1_Missense_Mutation_p.T65I|MAPK8_ENST00000374182.3_Missense_Mutation_p.T65I P45983 MK08_HUMAN mitogen-activated protein kinase 8 65 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) CAGAATCAGACTCATGCCAAG 0.358000 5 37 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103237105 103237105 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:103237105C>T ENST00000428762.1 - 25 3496 c.3337G>A c.(3337-3339)Ggg>Agg p.G1113R RELN_ENST00000343529.5_Missense_Mutation_p.G1113R|RELN_ENST00000424685.2_Missense_Mutation_p.G1113R NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1113 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGTCTTTTCCCAGCCTTTCAG 0.433000 10 52 0 0 1 0 0 CAPN15 6650 broad.mit.edu 37 16 603477 603477 + Silent SNP G G A rs149989399 byFrequency TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:603477G>A ENST00000219611.2 + 14 3585 c.3222G>A c.(3220-3222)acG>acA p.T1074T LA16c-366D1.3_ENST00000565879.1_RNA NM_005632.2 NP_005623.1 calpain 15 CCCCACTCACGCCAGAGGTCG 0.677000 7 73 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163695001 163695001 + Missense_Mutation SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:163695001G>T ENST00000332142.5 - 1 127 c.28C>A c.(28-30)Cca>Aca p.P10T KCNH7_ENST00000328032.4_Missense_Mutation_p.P10T NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 10 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) GTATTTTGTGGTGCCACATGC 0.562000 9 65 4.84862e-15 5.55571e-15 1 1 0 PI4KB 5298 broad.mit.edu 37 1 151278751 151278751 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:151278751C>T ENST00000368875.2 - 6 1887 c.1307G>A c.(1306-1308)cGg>cAg p.R436Q PI4KB_ENST00000271657.5_Missense_Mutation_p.R436Q|PI4KB_ENST00000529142.1_Missense_Mutation_p.R92Q|PI4KB_ENST00000368872.1_Missense_Mutation_p.R409Q|PI4KB_ENST00000368873.1_Missense_Mutation_p.R424Q|PI4KB_ENST00000368874.4_Missense_Mutation_p.R409Q NM_002651.2 NP_002642.1 Q9UBF8 PI4KB_HUMAN phosphatidylinositol 4-kinase, catalytic, beta 424 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 27 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCTCGTACTCCGAATTCGGTT 0.527000 13 50 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50944522 50944522 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:50944522G>A ENST00000374103.4 - 21 2720 c.2635C>T c.(2635-2637)Cgg>Tgg p.R879W OGDHL_ENST00000419399.1_Missense_Mutation_p.R822W|OGDHL_ENST00000432695.1_Missense_Mutation_p.R670W|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 879 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TCAGGGGCCCGTGCTGCGGCC 0.637000 4 125 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215840595 215840595 + Silent SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:215840595G>T ENST00000272895.7 - 34 5514 c.5295C>A c.(5293-5295)ggC>ggA p.G1765G ABCA12_ENST00000389661.4_Silent_p.G1447G NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1765 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTCTCAGTGTGCCAAGGCCCA 0.488000 21 101 2.4624e-09 2.74524e-09 1 1 0 WDR90 197335 broad.mit.edu 37 16 716723 716723 + Silent SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:716723G>A ENST00000549091.1 + 39 5033 c.4941G>A c.(4939-4941)ggG>ggA p.G1647G WDR90_ENST00000547944.1_Silent_p.G244G|WDR90_ENST00000315764.4_Silent_p.G196G|WDR90_ENST00000293879.4_Silent_p.G1645G|WDR90_ENST00000547543.1_3'UTR NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1645 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CTTGGGATGGGGCGCTCCTGA 0.647000 19 67 0 0 1 0 0 CLUH 23277 broad.mit.edu 37 17 2600086 2600086 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr17:2600086C>T ENST00000570628.1 - 11 2103 c.1998G>A c.(1996-1998)gaG>gaA p.E666E CLUH_ENST00000538975.1_Silent_p.E666E|CLUH_ENST00000435359.1_Silent_p.E666E|CLUH_ENST00000575014.1_Silent_p.E598E clustered mitochondria (cluA/CLU1) homolog TGCTACCCTCCTCCTCACTTC 0.652000 17 41 0 0 1 0 0 DNAJA2 10294 broad.mit.edu 37 16 47005331 47005331 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:47005331C>T ENST00000317089.5 - 3 507 c.292G>A c.(292-294)Ggc>Agc p.G98S NM_005880.3 NP_005871.1 O60884 DNJA2_HUMAN DnaJ (Hsp40) homolog, subfamily A, member 2 98 positive regulation of cell proliferation|protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 14 all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116) CCCATGAAGCCGAACAATCCC 0.448000 20 125 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1028255 1028255 + Missense_Mutation SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:1028255G>T ENST00000421673.2 - 14 1774 c.1724C>A c.(1723-1725)aCt>aAt p.T575N NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 575 VWFD 2. 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) GCAGGGGTCAGTCTCACGCTC 0.667000 3 17 0.00909568 0.00915114 1 1 0 EPHA10 284656 broad.mit.edu 37 1 38227628 38227628 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:38227628C>T ENST00000373048.4 - 3 298 c.299G>A c.(298-300)cGc>cAc p.R100H EPHA10_ENST00000319637.6_Missense_Mutation_p.R100H|EPHA10_ENST00000427468.2_Missense_Mutation_p.R100H NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 100 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CACGAAGATGCGCTGCCCGCG 0.607000 4 165 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395482 49395482 + Missense_Mutation SNP G G C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr3:49395482G>C ENST00000419783.1 - 1 551 c.230C>G c.(229-231)cCg>cGg p.P77R GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR NM_000581.2 NP_000572.2 P07203 GPX1_HUMAN glutathione peroxidase 1 77 anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection cytosol|mitochondrion endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CTGGTTGCACGGGAAGCCGAG 0.726000 3 19 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) 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) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 73 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25966250 25966250 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:25966250C>T ENST00000435504.4 - 13 3249 c.2956G>A c.(2956-2958)Gag>Aag p.E986K ASXL2_ENST00000336112.4_Missense_Mutation_p.E958K|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000272341.4_Intron Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 986 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCTTTCCTCTTTTGCAGTC 0.478000 11 109 0 0 1 0 0 TXLNA 200081 broad.mit.edu 37 1 32647005 32647005 + Missense_Mutation SNP A A G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:32647005A>G ENST00000373609.1 + 2 613 c.332A>G c.(331-333)gAg>gGg p.E111G TXLNA_ENST00000373610.3_Missense_Mutation_p.E111G P40222 TXLNA_HUMAN taxilin alpha 111 cell proliferation|exocytosis cytoplasm|extracellular region cytokine activity|high molecular weight B cell growth factor receptor binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GAAGATGCAGAGAAGTCCCGG 0.567000 7 28 0 0 1 0 0 INCENP 3619 broad.mit.edu 37 11 61897977 61897977 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:61897977C>T ENST00000394818.3 + 4 1180 c.978C>T c.(976-978)gcC>gcT p.A326A INCENP_ENST00000278849.4_Silent_p.A326A NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 326 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTCTGGTGGCCAAACAGGAAA 0.622000 17 104 0 0 1 0 0 GATA3 2625 broad.mit.edu 37 10 8106031 8106031 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:8106031G>A ENST00000379328.3 + 4 1422 c.854G>A c.(853-855)tGc>tAc p.C285Y GATA3_ENST00000346208.3_Missense_Mutation_p.C284Y|GATA3_ENST00000461472.1_Intron NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 284 NA -> RR (in Ref. 4; AAA35870). aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CACTACCTGTGCAACGCCTGC 0.567000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 18 108 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 100959482 100959482 + Missense_Mutation SNP A A T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr13:100959482A>T ENST00000376285.1 + 15 1359 c.1321A>T c.(1321-1323)Att>Ttt p.I441F PCCA_ENST00000376279.3_Missense_Mutation_p.I441F|PCCA_ENST00000376286.4_Missense_Mutation_p.I415F NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 441 Biotin carboxylation. fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) AGGAAGTGATATTAGCATTTA 0.299000 8 27 0 0 1 0 0 LOC150776 150776 broad.mit.edu 37 2 132275459 132275459 + RNA SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:132275459G>A ENST00000438378.2 + 0 1732 NR_026922.1 AGATGATTCAGAAAGGTAAGT 0.612000 3 26 0 0 1 0 0 CHML 1122 broad.mit.edu 37 1 241799085 241799085 + Translation_Start_Site SNP G G A rs140161557 by1000genomes TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:241799085G>A ENST00000366553.1 - 0 147 OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AAGTAACAGCGTCTGGTGACA 0.438000 7 48 0 0 1 0 0 PHC2 1912 broad.mit.edu 37 1 33832911 33832911 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:33832911G>A ENST00000257118.5 - 6 835 c.782C>T c.(781-783)cCt>cTt p.P261L PHC2_ENST00000431992.1_Missense_Mutation_p.P232L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000419414.2_Missense_Mutation_p.P261L NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 261 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGTAGGCAGAGGCTGGCTACC 0.637000 OREG0013344 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 134 0 0 1 0 0 SHOC2 8036 broad.mit.edu 37 10 112724466 112724466 + Nonsense_Mutation SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:112724466C>A ENST00000369452.4 + 2 695 c.350C>A c.(349-351)tCa>tAa p.S117* SHOC2_ENST00000265277.5_Nonsense_Mutation_p.S117*|SHOC2_ENST00000489390.1_Intron NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 117 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) ATATTGCCATCATCAATCAAA 0.383000 7 89 0.248553 0.248553 1 1 0 NPR1 4881 broad.mit.edu 37 1 153655867 153655867 + Missense_Mutation SNP A A C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:153655867A>C ENST00000368680.3 + 6 1751 c.1279A>C c.(1279-1281)Aat>Cat p.N427H NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 427 body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) ACTGAACTACAATGGGACTTC 0.597000 9 42 0 0 1 0 0 PRSS27 83886 broad.mit.edu 37 16 2764296 2764296 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:2764296C>T ENST00000302641.3 - 4 332 c.278G>A c.(277-279)aGg>aAg p.R93K NM_031948.3 NP_114154.1 Q9BQR3 PRS27_HUMAN protease, serine 27 93 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 8 CACTAGCTGCCTTGCCCCCAG 0.692000 3 14 0 0 1 0 0 TACC1 6867 broad.mit.edu 37 8 38677367 38677367 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr8:38677367G>A ENST00000379931.3 + 3 984 c.605G>A c.(604-606)gGg>gAg p.G202E TACC1_ENST00000520973.1_Missense_Mutation_p.G7E|TACC1_ENST00000519416.1_Missense_Mutation_p.G7E|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_Missense_Mutation_p.G7E|TACC1_ENST00000520340.1_Missense_Mutation_p.G166E|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000317827.4_Missense_Mutation_p.G202E|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000443286.2_Missense_Mutation_p.G218E|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000518415.1_Missense_Mutation_p.G157E O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 202 Interaction with TDRD7. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) GGCAGCATGGGGGTCACCCTC 0.592000 4 126 0 0 1 0 0 TCF12 6938 broad.mit.edu 37 15 57545575 57545575 + Missense_Mutation SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr15:57545575T>C ENST00000267811.5 + 15 1608 c.1304T>C c.(1303-1305)tTa>tCa p.L435S TCF12_ENST00000557843.1_Missense_Mutation_p.L435S|TCF12_ENST00000537840.1_Missense_Mutation_p.L199S|TCF12_ENST00000438423.2_Missense_Mutation_p.L459S|TCF12_ENST00000543579.1_Missense_Mutation_p.L289S|TCF12_ENST00000343827.3_Missense_Mutation_p.L265S|TCF12_ENST00000452095.2_Missense_Mutation_p.L455S|TCF12_ENST00000559703.1_Missense_Mutation_p.L93S|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Missense_Mutation_p.L459S|TCF12_ENST00000559710.1_Missense_Mutation_p.L69S NM_003205.3|NM_207038.1 NP_003196.1|NP_996921.1 Q99081 HTF4_HUMAN transcription factor 12 435 immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity TCF12/NR4A3(2) breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 36 Colorectal(260;0.0907) all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239) ATACATAGTTTATTGGGACCA 0.458000 T TEC extraskeletal myxoid chondrosarcoma 8 71 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124414967 124414967 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:124414967G>A ENST00000409039.3 + 72 12302 c.12277G>A c.(12277-12279)Gcc>Acc p.A4093T CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4093 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TGGAGGACGGGCCATCGACAG 0.562000 3 29 0 0 1 0 0 WDR90 197335 broad.mit.edu 37 16 711364 711364 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:711364G>A ENST00000549091.1 + 30 3628 c.3536G>A c.(3535-3537)cGa>cAa p.R1179Q WDR90_ENST00000293879.4_Missense_Mutation_p.R1179Q NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1179 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GCCTCGGGCCGAAGCAGCACG 0.682000 11 42 0 0 1 0 0 CLTCL1 8218 broad.mit.edu 37 22 19188854 19188854 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr22:19188854G>A ENST00000263200.10 - 23 3823 c.3751C>T c.(3751-3753)Cgg>Tgg p.R1251W CLTCL1_ENST00000427926.1_Missense_Mutation_p.R1251W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R1251W|CLTCL1_ENST00000442042.2_5'UTR NM_007098.3 NP_009029.3 P53675 CLH2_HUMAN clathrin, heavy chain-like 1 1251 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) TTCCACGTCCGGGTGCTGCTG 0.592000 T ? ALCL 5 24 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20868160 20868160 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:20868160C>T ENST00000381552.1 + 6 985 c.617C>T c.(616-618)cCt>cTt p.P206L SLCO1C1_ENST00000540354.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.P206L|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.P88L|SLCO1C1_ENST00000266509.2_Missense_Mutation_p.P206L Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 206 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCCATTCAGCCTTTGGGCATT 0.418000 12 117 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69718764 69718764 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr15:69718764C>T ENST00000260363.4 + 9 1054 c.937C>T c.(937-939)Ccc>Tcc p.P313S KIF23_ENST00000558585.1_Missense_Mutation_p.P130S|KIF23_ENST00000395392.2_Missense_Mutation_p.P313S|KIF23_ENST00000559279.1_Missense_Mutation_p.P313S|KIF23_ENST00000352331.4_Missense_Mutation_p.P313S|KIF23_ENST00000537891.1_Missense_Mutation_p.P130S NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 313 Kinesin-motor. blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 AGTTCAGGCTCCCTTGGATGC 0.398000 35 161 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23364284 23364284 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr16:23364284C>T ENST00000343070.2 + 3 650 c.474C>T c.(472-474)ccC>ccT p.P158P SCNN1B_ENST00000568085.1_Silent_p.P158P|SCNN1B_ENST00000307331.5_Silent_p.P203P|SCNN1B_ENST00000568923.1_Silent_p.P158P NM_000336.2 NP_000327.2 P51168 SCNNB_HUMAN sodium channel, non-voltage-gated 1, beta subunit 158 excretion|sensory perception of taste apical plasma membrane ligand-gated sodium channel activity|WW domain binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) AACGGAACCCCCACCACCCCA 0.517000 14 133 0 0 1 0 0 SPRED2 200734 broad.mit.edu 37 2 65541047 65541047 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:65541047C>T ENST00000356388.4 - 6 1034 c.845G>A c.(844-846)gGc>gAc p.G282D SPRED2_ENST00000443619.2_Missense_Mutation_p.G279D NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 282 inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 GCCCCCGCGGCCTTTGGGGTC 0.662000 26 88 0 0 1 0 0 TMEM190 147744 broad.mit.edu 37 19 55889217 55889217 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:55889217G>A ENST00000291934.3 + 4 286 c.268G>A c.(268-270)Ggc>Agc p.G90S CTD-2105E13.15_ENST00000595064.1_RNA NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 90 integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GACGTGCAGCGGCCTCCTCCT 0.697000 9 63 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141497350 141497350 + Missense_Mutation SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr3:141497350C>A ENST00000264952.2 + 1 361 c.224C>A c.(223-225)gCc>gAc p.A75D NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 75 RGS. 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 GACTTCCTAGCCACAGTGCCC 0.657000 12 51 3.07112e-06 3.29048e-06 1 1 0 DGKZ 8525 broad.mit.edu 37 11 46394044 46394044 + Nonsense_Mutation SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:46394044G>T ENST00000454345.1 + 12 1683 c.1558G>T c.(1558-1560)Gga>Tga p.G520* DGKZ_ENST00000528615.1_Nonsense_Mutation_p.G110*|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000456247.2_Nonsense_Mutation_p.G331*|DGKZ_ENST00000527911.1_Nonsense_Mutation_p.G332*|DGKZ_ENST00000532868.2_Nonsense_Mutation_p.G336*|DGKZ_ENST00000343674.6_Nonsense_Mutation_p.G348*|DGKZ_ENST00000421244.2_Nonsense_Mutation_p.G332*|DGKZ_ENST00000318201.8_Nonsense_Mutation_p.G309*|DGKZ_ENST00000395574.3_Nonsense_Mutation_p.G298* NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 520 DAGKc.|Mediates interaction with RASGRP1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCTGAGCCAGGGAGGGCCCAA 0.582000 13 71 4.36969e-10 4.90475e-10 1 1 0 DDO 8528 broad.mit.edu 37 6 110714266 110714266 + Silent SNP C C A rs148812598 byFrequency TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr6:110714266C>A ENST00000368924.3 - 5 837 c.822G>T c.(820-822)ccG>ccT p.P274P DDO_ENST00000368925.1_Silent_p.P246P|DDO_ENST00000368923.3_Silent_p.P215P NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 246 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) TTTCTGCATCCGGGGACAGAT 0.522000 32 171 2.80507e-11 3.17012e-11 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22154756 22154756 + Missense_Mutation SNP G G T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:22154756G>T ENST00000397126.4 - 4 3228 c.3080C>A c.(3079-3081)aCa>aAa p.T1027K ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTTGTAGGGTGTCTCTCCAGT 0.413000 7 81 0.000274275 0.000286427 1 1 0 PPFIA4 8497 broad.mit.edu 37 1 203028956 203028956 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:203028956C>T ENST00000367240.2 + 20 3024 c.2497C>T c.(2497-2499)Cct>Tct p.P833S PPFIA4_ENST00000414050.2_Missense_Mutation_p.P561S|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P832S|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P348S|PPFIA4_ENST00000272198.6_Missense_Mutation_p.P348S|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P348S O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 348 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GTGGGATGGTCCTACTGTGGT 0.552000 7 11 0 0 1 0 0 RASA4B 100271927 broad.mit.edu 37 7 102136604 102136604 + Missense_Mutation SNP C C T rs746316 TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:102136604C>T ENST00000481893.1 - 16 1962 c.838G>A c.(838-840)Gtg>Atg p.V280M RASA4B_ENST00000306682.6_Missense_Mutation_p.V280M|RASA4B_ENST00000465829.1_Missense_Mutation_p.V352M|RASA4B_ENST00000541662.1_Missense_Mutation_p.V352M RAS p21 protein activator 4B p.V352M(1) skin(1) 1 AAAGACTCCACGGACTTTGAG 0.542000 4 103 0 0 1 0 0 COL26A1 136227 broad.mit.edu 37 7 101188672 101188672 + RNA SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:101188672G>A ENST00000313669.7 + 0 949 COL26A1_ENST00000528707.1_RNA|COL26A1_ENST00000397927.3_RNA NM_133457.2 NP_597714.2 collagen, type XXVI, alpha 1 GGGGCGCCCCGGCCCCCCAGG 0.697000 6 23 0 0 1 0 0 PIGK 10026 broad.mit.edu 37 1 77620301 77620301 + Missense_Mutation SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:77620301C>A ENST00000370812.3 - 9 842 c.819G>T c.(817-819)caG>caT p.Q273H PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Missense_Mutation_p.Q179H|PIGK_ENST00000359130.1_Missense_Mutation_p.Q273H|PIGK_ENST00000370813.5_Missense_Mutation_p.Q197H NM_005482.2 NP_005473.1 Q92643 GPI8_HUMAN phosphatidylinositol glycan anchor biosynthesis, class K 273 attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis GPI-anchor transamidase complex cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 19 TGGGACATACCTGAAACTGaa 0.328000 4 16 0.00024832 0.000262646 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52406960 52406960 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr3:52406960C>T ENST00000420323.2 + 44 7137 c.6876C>T c.(6874-6876)ttC>ttT p.F2292F NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2292 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TTATCTTCTTCATCGATGACC 0.627000 8 76 0 0 1 0 0 GDF3 9573 broad.mit.edu 37 12 7842781 7842781 + Missense_Mutation SNP A A T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:7842781A>T ENST00000329913.3 - 2 835 c.788T>A c.(787-789)cTc>cAc p.L263H NM_020634.1 NP_065685.1 Q9NR23 GDF3_HUMAN growth differentiation factor 3 263 eye development|growth|skeletal system development extracellular space cytokine activity|growth factor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 ACGGTGGCAGAGGTTCTTACA 0.542000 18 88 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139396814 139396814 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr9:139396814C>T ENST00000277541.6 - 28 5369 c.5294G>A c.(5293-5295)gGc>gAc p.G1765D NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1765 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCAGAGCTGGCCATGCTGCCG 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 6 30 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149515760 149515760 + RNA SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:149515760C>T ENST00000378016.2 + 0 11661 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GCCCATGGTCCTCCTGGTCCC 0.687000 4 38 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135073814 135073814 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr9:135073814C>T ENST00000393229.3 + 3 1451 c.675C>T c.(673-675)ccC>ccT p.P225P NTNG2_ENST00000372179.3_Silent_p.P225P|NTNG2_ENST00000360670.3_Silent_p.P225P|NTNG2_ENST00000393228.4_Silent_p.P225P NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 225 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) TTGCCGGCCCCGACCTGCGCA 0.662000 21 119 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804461 27804461 + Silent SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:27804461C>T ENST00000408964.2 + 1 5073 c.5022C>T c.(5020-5022)tcC>tcT p.S1674S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1674 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GCAGTCCCTCCCAGAGGAGCC 0.572000 14 264 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140187569 140187569 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:140187569C>T ENST00000530339.1 + 1 797 c.797C>T c.(796-798)gCc>gTc p.A266V PCDHA4_ENST00000356878.4_Missense_Mutation_p.A266V|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A266V|PCDHA1_ENST00000504120.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACTTAACGCCTCAGATTTA 0.358000 13 53 0 0 1 0 0 CYTH2 9266 broad.mit.edu 37 19 48981550 48981550 + Missense_Mutation SNP A A G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:48981550A>G ENST00000427476.1 + 10 1207 c.907A>G c.(907-909)Atc>Gtc p.I303V CYTH2_ENST00000452733.2_Missense_Mutation_p.I302V NM_004228.6|NM_017457.5 NP_004219.3|NP_059431.1 Q99418 CYH2_HUMAN cytohesin 2 303 PH. actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|membrane fraction|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 GCCCCGAGGAATCATCCCCCT 0.622000 15 87 0 0 1 0 0 ZNF835 90485 broad.mit.edu 37 19 57175629 57175629 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr19:57175629G>A ENST00000537055.2 - 2 1169 c.938C>T c.(937-939)gCg>gTg p.A313V NM_001005850.2 NP_001005850.2 zinc finger protein 835 p.G334fs*26(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 GCTGAAGAGCGCGCCGCAGTC 0.706000 4 24 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27804504 27804504 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:27804504C>T ENST00000408964.2 + 1 5116 c.5065C>T c.(5065-5067)Ccc>Tcc p.P1689S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1689 27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich. breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) CCATTGCAGTCCCTCTGAGAG 0.577000 6 246 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98469699 98469699 + Missense_Mutation SNP C C G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:98469699C>G ENST00000339364.5 - 2 174 c.55G>C c.(55-57)Gat>Cat p.D19H NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 19 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) TCCTCGGCATCCGGGCTGTAG 0.612000 3 70 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35253084 35253084 + Silent SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr14:35253084T>C ENST00000360310.1 - 15 2448 c.1881A>G c.(1879-1881)ctA>ctG p.L627L BAZ1A_ENST00000382422.2_Silent_p.L627L|BAZ1A_ENST00000358716.4_Silent_p.L595L NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 627 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TAGTTGAAACTAGGGTCAGTA 0.368000 10 58 0 0 1 0 0 RPIA 22934 broad.mit.edu 37 2 88991322 88991322 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:88991322C>T ENST00000283646.4 + 1 161 c.106C>T c.(106-108)Ctc>Ttc p.L36F NM_144563.2 NP_653164.2 P49247 RPIA_HUMAN ribose 5-phosphate isomerase A 36 pentose-phosphate shunt, non-oxidative branch cytosol ribose-5-phosphate isomerase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1) 18 Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287) CAGCTGGGACCTCCCGGGTTC 0.746000 7 11 0 0 1 0 0 FSIP1 161835 broad.mit.edu 37 15 39909959 39909959 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr15:39909959C>T ENST00000350221.3 - 11 1885 c.1676G>A c.(1675-1677)aGt>aAt p.S559N NM_152597.4 NP_689810.3 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 559 NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 23 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) CTCTGGAGAACTGAGTTTCAG 0.393000 10 60 0 0 1 0 0 RALGPS2 55103 broad.mit.edu 37 1 178854232 178854232 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:178854232C>T ENST00000367635.3 + 12 1264 c.926C>T c.(925-927)cCa>cTa p.P309L RALGPS2_ENST00000367634.2_Missense_Mutation_p.P309L|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Missense_Mutation_p.P274L NM_152663.3 NP_689876.2 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 309 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GGAGCGTCTCCACAGAGTGGA 0.433000 8 51 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858010 54858010 + Silent SNP A A G TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:54858010A>G ENST00000333896.5 + 15 3172 c.2787A>G c.(2785-2787)gaA>gaG p.E929E SPTBN1_ENST00000356805.4_Silent_p.E942E NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 942 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGTTCAGAGAACTGGTTGACA 0.517000 5 19 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849510 94849510 + Missense_Mutation SNP G G A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr14:94849510G>A ENST00000448921.1 - 4 637 c.65C>T c.(64-66)tCc>tTc p.S22F SERPINA1_ENST00000393088.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000437397.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000449399.3_Missense_Mutation_p.S22F|SERPINA1_ENST00000355814.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000440909.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000393087.4_Missense_Mutation_p.S22F|SERPINA1_ENST00000402629.1_Missense_Mutation_p.S22F|SERPINA1_ENST00000404814.4_Missense_Mutation_p.S22F NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 22 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) CTCAGCCAGGGAGACAGGGAC 0.612000 7 75 0 0 1 0 0 ZC3HAV1L 92092 broad.mit.edu 37 7 138713609 138713609 + Missense_Mutation SNP C C A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr7:138713609C>A ENST00000275766.1 - 3 610 c.599G>T c.(598-600)gGa>gTa p.G200V NM_080660.3 NP_542391.2 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type, antiviral 1-like 200 NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1) 10 TTTGCATTCTCCTTTCACAAA 0.448000 9 31 0.000274275 0.000286427 1 1 0 GBF1 8729 broad.mit.edu 37 10 104135126 104135126 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr10:104135126C>T ENST00000369983.3 + 30 3928 c.3668C>T c.(3667-3669)tCc>tTc p.S1223F NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1223 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) GTGCTGCTCTCCCTGCGCATT 0.577000 11 67 0 0 1 0 0 CDC14A 8556 broad.mit.edu 37 1 100818542 100818542 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr1:100818542C>T ENST00000370125.2 + 1 520 c.32C>T c.(31-33)gCt>gTt p.A11V CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370124.3_Missense_Mutation_p.A11V|CDC14A_ENST00000336454.3_Missense_Mutation_p.A11V|CDC14A_ENST00000361544.6_Missense_Mutation_p.A11V|CDC14A_ENST00000544534.1_Missense_Mutation_p.A11V Q9UNH5 CC14A_HUMAN cell division cycle 14A 11 A. cell cycle|cell division|cell proliferation centrosome|nucleus|spindle protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1) 31 all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001) Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241) CTAATCGGGGCTTGTGAGTTC 0.622000 5 52 0 0 1 0 0 H3F3AP4 440926 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 --- --- --- --- DMXL1 1657 broad.mit.edu 37 5 118525523 118525524 + Frame_Shift_Ins INS - - G rs17144964 byFrequency TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr5:118525523_118525524insG ENST00000311085.8 + 29 7336_7337 c.7256_7257insG c.(7255-7257)ggtfs p.G2419fs DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2419 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GAGTCACTGGCGGTTAAAGAAA 0.421 7 112 --- --- --- --- SVEP1 79987 broad.mit.edu 37 9 113168593 113168594 + Frame_Shift_Ins INS - - T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr9:113168593_113168594insT ENST00000401783.2 - 38 9622_9623 c.9286_9287insA c.(9286-9288)acafs p.T3096fs SVEP1_ENST00000297826.5_Frame_Shift_Ins_p.T1022fs|SVEP1_ENST00000374469.1_Frame_Shift_Ins_p.T3073fs NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3096 Sushi 28. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 ACTGCCTTGTATGACATATCCA 0.485 29 218 --- --- --- --- PHRF1 57661 broad.mit.edu 37 11 607585 607590 + In_Frame_Del DEL GCATCA GCATCA - TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:607585_607590delGCATCA ENST00000264555.5 + 14 2257_2262 c.2129_2134delGCATCA c.(2128-2136)tgc>t p.CIS710del PHRF1_ENST00000413872.2_In_Frame_Del_p.CIS708del|PHRF1_ENST00000533464.1_In_Frame_Del_p.CIS706del|PHRF1_ENST00000416188.2_In_Frame_Del_p.CIS709del NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 710 RNA polymerase binding|zinc ion binding breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2) 28 CCCAGTGCCTGCATCAGCCGACTGAC 0.684 16 105 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738795 102738796 + RNA INS - - T rs33924686 by1000genomes TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr11:102738795_102738796insT ENST00000532855.1 - 0 725_726 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.N211fs*20(2) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) AGGAACAAGTGGTGCCTAAGAA 0.416 7 5 --- --- --- --- RP11-377D9.3 0 broad.mit.edu 37 12 13174142 13174144 + RNA DEL AAC AAC - rs59907395 TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:13174142_13174144delAAC ENST00000543321.1 + 0 1025 ctgtctcaaaaacaacaacaaca 0.552 5 9 --- --- --- --- SLC26A10 65012 broad.mit.edu 37 12 58014154 58014154 + Frame_Shift_Del DEL C C - TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr12:58014154delC ENST00000379218.2 + 1 462 c.151delC c.(151-153)ccfs p.P52fs SLC26A10_ENST00000320442.4_Frame_Shift_Del_p.P52fs Q8NG04 S2610_HUMAN solute carrier family 26, member 10 52 integral to membrane antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7) 19 Melanoma(17;0.122) GGCCTCCGTGCCCCCGGTGTT 0.562 7 825 --- --- --- --- BRCA2 675 broad.mit.edu 37 13 32911001 32911002 + Frame_Shift_Ins INS - - A TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr13:32911001_32911002insA ENST00000544455.1 + 11 2736_2737 c.2509_2510insA c.(2509-2511)aaafs p.K837fs BRCA2_ENST00000380152.3_Frame_Shift_Ins_p.K837fs NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 837 Interaction with NPM1. cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GTTGCCACCTGAAAAATACATG 0.307 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 7 59 --- --- --- --- GALK1 2584 broad.mit.edu 37 17 73758797 73758797 + Frame_Shift_Del DEL C C - TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1755566d-3b50-4ce5-b912-577022096fd5 7986c53f-94a9-4dad-bfac-359d75bad617 g.chr17:73758797delC ENST00000588479.1 - 5 1355 c.781delG c.(781-783)aafs p.E262fs GALK1_ENST00000437911.1_Frame_Shift_Del_p.E292fs|GALK1_ENST00000225614.2_Frame_Shift_Del_p.E262fs P51570 GALK1_HUMAN galactokinase 1 262 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding endometrium(2)|large_intestine(1)|lung(1)|prostate(1) 5 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TCTAGCTCTTCCAGTTGTACC 0.667 14 77 --- --- --- ---