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_status validation_method validation_tumor_sample validation_alt_allele filter CCDC27 148870 broad.mit.edu 37 1 3669114 3669114 + Silent SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:3669114C>A uc001akv.2 + 1 150 c.69C>A c.(67-69)GGC>GGA p.G23G NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 23 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) AAAAGCCGGGCCTGTCCTCAT 0.572 45 66 --- --- --- --- PASS CTRC 11330 broad.mit.edu 37 1 15769956 15769956 + Silent SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:15769956G>C uc001awi.1 + 5 422 c.399G>C c.(397-399)CTG>CTC p.L133L CTRC_uc001awj.1_Silent_p.L133L NM_007272 NP_009203 Q99895 CTRC_HUMAN chymotrypsin C preproprotein 133 Peptidase S1. proteolysis serine-type endopeptidase activity 0 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATGTGGAGCTGAGTGACACCA 0.607 38 361 --- --- --- --- PASS EPHA8 2046 broad.mit.edu 37 1 22922656 22922656 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:22922656G>A uc001bfx.1 + 9 1880 c.1755G>A c.(1753-1755)CAG>CAA p.Q585Q NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 585 Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TGCACTATCAGAATGGACAGG 0.657 12 41 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34076646 34076646 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:34076646T>C uc001bxn.1 - 41 6247 c.6218A>G c.(6217-6219)TAT>TGT p.Y2073C CSMD2_uc001bxm.1_Missense_Mutation_p.Y2113C|CSMD2_uc001bxo.1_Missense_Mutation_p.Y986C NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2073 CUB 12.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CTTACCCTGATACTCCAGCTT 0.572 5 29 --- --- --- --- PASS PPAP2B 8613 broad.mit.edu 37 1 56989495 56989495 + Silent SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:56989495C>G uc001cyj.1 - 5 1134 c.633G>C c.(631-633)GTG>GTC p.V211V NM_177414 NP_803133 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 211 Helical; (Potential). canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity 0 GGGTACTTACCACCAAATACA 0.488 16 59 --- --- --- --- PASS ST6GALNAC3 256435 broad.mit.edu 37 1 76878011 76878011 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:76878011G>T uc001dhh.2 + 3 695 c.532G>T c.(532-534)GGT>TGT p.G178C ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.G178C|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.G113C NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 178 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 AAAGACAGTTGGTATCTATCC 0.423 46 177 --- --- --- --- PASS USP33 23032 broad.mit.edu 37 1 78177450 78177450 + Silent SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:78177450T>C uc001dht.2 - 22 2828 c.2481A>G c.(2479-2481)GAA>GAG p.E827E USP33_uc001dhs.2_Silent_p.E548E|USP33_uc001dhu.2_Silent_p.E796E|USP33_uc001dhv.2_Silent_p.E632E|USP33_uc001dhw.2_Silent_p.E819E NM_015017 NP_055832 Q8TEY7 UBP33_HUMAN ubiquitin specific protease 33 isoform 1 827 DUSP 2. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(2)|ovary(1) 3 AAATTTCCAATTCAGTTTTTC 0.328 23 112 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118550722 118550722 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:118550722C>A uc001ehk.2 - 31 4600 c.4532G>T c.(4531-4533)TGT>TTT p.C1511F NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1511 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AAAGGTGGCACAGCAGCTACT 0.512 20 107 --- --- --- --- PASS POGZ 23126 broad.mit.edu 37 1 151378546 151378546 + Missense_Mutation SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:151378546T>A uc001eyd.1 - 19 3271 c.2965A>T c.(2965-2967)ACA>TCA p.T989S POGZ_uc001eye.1_Missense_Mutation_p.T936S|POGZ_uc010pdb.1_Missense_Mutation_p.T980S|POGZ_uc001eyf.1_Missense_Mutation_p.T945S|POGZ_uc010pdc.1_Missense_Mutation_p.T927S|POGZ_uc009wmv.1_Missense_Mutation_p.T894S|POGZ_uc010pdd.1_Missense_Mutation_p.T480S NM_015100 NP_055915 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 989 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding ovary(3) 3 Lung SC(34;0.00471)|Ovarian(49;0.00672)|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) GCCTGTTCTGTATTGCAGCAT 0.522 12 79 --- --- --- --- PASS C1orf77 26097 broad.mit.edu 37 1 153610803 153610803 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:153610803C>T uc001fcm.1 + 3 410 c.98C>T c.(97-99)ACG>ATG p.T33M C1orf77_uc001fcn.1_Missense_Mutation_p.T33M|C1orf77_uc001fco.1_Missense_Mutation_p.T8M|C1orf77_uc009woi.1_Missense_Mutation_p.T33M|C1orf77_uc009woj.1_Missense_Mutation_p.T33M NM_015607 NP_056422 Q9Y3Y2 CHTOP_HUMAN small protein rich in arginine and glycine 33 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus protein binding|RNA binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) AAACAGCCGACGCCAGTGAAT 0.428 14 144 --- --- --- --- PASS CD1C 911 broad.mit.edu 37 1 158259855 158259855 + Missense_Mutation SNP A C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:158259855A>C uc001fru.2 + 1 293 c.1A>C c.(1-3)ATG>CTG p.M1L CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 1 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) TGCAAATGACATGCTGTTTCT 0.438 35 127 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158590102 158590102 + Missense_Mutation SNP A T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:158590102A>T uc001fst.1 - 44 6474 c.6275T>A c.(6274-6276)CTG>CAG p.L2092Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2092 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGCCCTAGCCAGGGAGGCCAA 0.493 25 96 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197030071 197030071 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:197030071C>G uc001gtt.1 - 4 630 c.586G>C c.(586-588)GAA>CAA p.E196Q NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 196 Sushi 3. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GTGAGACATTCTACCTCCTCT 0.398 34 165 --- --- --- --- PASS ZP4 57829 broad.mit.edu 37 1 238053451 238053451 + Silent SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:238053451C>A uc001hym.2 - 2 201 c.201G>T c.(199-201)CTG>CTT p.L67L LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 67 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AGTCATTCTGCAGCTCGTGCA 0.557 9 127 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243507555 243507555 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:243507555C>A uc001hzw.2 + 12 1551 c.1395C>A c.(1393-1395)AAC>AAA p.N465K SDCCAG8_uc010pyk.1_Missense_Mutation_p.N320K|SDCCAG8_uc010pyl.1_Missense_Mutation_p.N277K|SDCCAG8_uc001hzx.2_Missense_Mutation_p.N277K NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 465 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) ATAAAACCAACATGGAGAAGG 0.413 21 71 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343396 248343396 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:248343396G>A uc010pzf.1 + 1 109 c.109G>A c.(109-111)GTG>ATG p.V37M NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 37 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CATCTTTTTAGTGGCCTTCAT 0.517 109 372 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48898734 48898734 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:48898734C>T uc010yol.1 + 7 3262 c.3215C>T c.(3214-3216)CCT>CTT p.P1072L STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P1119L|GTF2A1L_uc002rws.1_Missense_Mutation_p.P415L|GTF2A1L_uc010yom.1_Missense_Mutation_p.P381L|GTF2A1L_uc002rwt.2_Missense_Mutation_p.P415L NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 1072 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CTTTAGGACCCTTTAAATTCT 0.328 53 212 --- --- --- --- PASS MDH1 4190 broad.mit.edu 37 2 63834097 63834097 + Silent SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:63834097T>A uc002scj.1 + 9 1037 c.981T>A c.(979-981)GCT>GCA p.A327A MDH1_uc010ypv.1_Silent_p.A345A|MDH1_uc010ypw.1_Silent_p.A232A NM_005917 NP_005908 P40925 MDHC_HUMAN cytosolic malate dehydrogenase 327 gluconeogenesis|tricarboxylic acid cycle centrosome|cytosol L-malate dehydrogenase activity|malic enzyme activity kidney(2) 2 NADH(DB00157) AAGAAAGTGCTTTTGAATTTC 0.358 39 122 --- --- --- --- PASS ZNF638 27332 broad.mit.edu 37 2 71607682 71607682 + Silent SNP T G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:71607682T>G uc002shx.2 + 10 2683 c.2364T>G c.(2362-2364)ACT>ACG p.T788T ZNF638_uc010fec.2_Silent_p.T894T|ZNF638_uc010yqw.1_Silent_p.T367T|ZNF638_uc002shw.2_Silent_p.T788T|ZNF638_uc002shy.2_Silent_p.T788T|ZNF638_uc002shz.2_Silent_p.T788T|ZNF638_uc002sia.2_Silent_p.T788T|ZNF638_uc002sib.1_Silent_p.T788T|ZNF638_uc010fed.2_RNA NM_014497 NP_055312 Q14966 ZN638_HUMAN zinc finger protein 638 788 RNA splicing cytoplasm|nuclear speck double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 AAATTGTTACTTCAACTTCTG 0.308 25 137 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89417279 89417279 + RNA SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:89417279C>T uc010ytr.1 - 41 c.4448G>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. GCAGGAGCCCCAGGAGCTGAG 0.532 58 329 --- --- --- --- PASS SPOPL 339745 broad.mit.edu 37 2 139308568 139308568 + Missense_Mutation SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:139308568G>C uc002tvh.2 + 4 696 c.296G>C c.(295-297)CGA>CCA p.R99P NM_001001664 NP_001001664 Q6IQ16 SPOPL_HUMAN speckle-type POZ protein-like 99 MATH. nucleus skin(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0296) AGTGAAGTTCGAGCAAAATTC 0.368 38 178 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179409130 179409130 + Silent SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:179409130T>A uc010zfg.1 - 294 88346 c.88122A>T c.(88120-88122)GTA>GTT p.V29374V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.V23069V|TTN_uc010zfi.1_Silent_p.V23002V|TTN_uc010zfj.1_Silent_p.V22877V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30301 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GAACATATCCTACAATGTCAG 0.463 20 111 --- --- --- --- PASS TMEFF2 23671 broad.mit.edu 37 2 193049091 193049091 + Nonsense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:193049091G>T uc002utc.2 - 3 795 c.401C>A c.(400-402)TCA>TAA p.S134* TMEFF2_uc002utd.1_Nonsense_Mutation_p.S134* NM_016192 NP_057276 Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two 134 Kazal-like 1.|Extracellular (Potential). extracellular region|integral to membrane lung(2)|pancreas(1)|breast(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.0835) TGTGGCACATGATCCTTCTGA 0.443 46 154 --- --- --- --- PASS LOC200726 200726 broad.mit.edu 37 2 207509208 207509208 + Missense_Mutation SNP A T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:207509208A>T uc010fuh.1 + 2 423 c.248A>T c.(247-249)GAG>GTG p.E83V NM_001102659 NP_001096129 hypothetical protein LOC200726 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133) AAGTCATCTGAGAACTTGAAG 0.488 21 80 --- --- --- --- PASS DYTN 391475 broad.mit.edu 37 2 207558005 207558005 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:207558005T>C uc002vbr.1 - 9 991 c.874A>G c.(874-876)AGA>GGA p.R292G NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 292 plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) AGGTTGTTTCTGAGGGTCCTG 0.498 16 108 --- --- --- --- PASS CYP27A1 1593 broad.mit.edu 37 2 219679704 219679704 + Missense_Mutation SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr2:219679704T>A uc002viz.3 + 9 1981 c.1547T>A c.(1546-1548)CTG>CAG p.L516Q NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 516 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) CGCATTGTCCTGGTTCCCAAT 0.592 27 103 --- --- --- --- PASS KIAA1257 57501 broad.mit.edu 37 3 128696888 128696888 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr3:128696888C>G uc003elj.3 - 5 1004 c.808G>C c.(808-810)GGT>CGT p.G270R KIAA1257_uc003elg.1_Missense_Mutation_p.G270R|KIAA1257_uc003eli.3_Missense_Mutation_p.G158R NM_020741 NP_065792 Q9ULG3 K1257_HUMAN hypothetical protein LOC57501 270 0 CTCCGCTCACCTTGCAAAGAC 0.507 16 130 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170784432 170784432 + Silent SNP A G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr3:170784432A>G uc003fhh.2 - 31 4137 c.3792T>C c.(3790-3792)TAT>TAC p.Y1264Y TNIK_uc003fhi.2_Silent_p.Y1209Y|TNIK_uc003fhj.2_Silent_p.Y1235Y|TNIK_uc003fhk.2_Silent_p.Y1256Y|TNIK_uc003fhl.2_Silent_p.Y1180Y|TNIK_uc003fhm.2_Silent_p.Y1201Y|TNIK_uc003fhn.2_Silent_p.Y1227Y|TNIK_uc003fho.2_Silent_p.Y1172Y|TNIK_uc003fhg.2_Silent_p.Y442Y|TNIK_uc003fhp.2_Silent_p.Y196Y NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1264 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) AGGTGTTTACATACACCCCCT 0.453 60 155 --- --- --- --- PASS LRCH3 84859 broad.mit.edu 37 3 197579450 197579450 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr3:197579450C>G uc011bul.1 + 13 1554 c.1549C>G c.(1549-1551)CCA>GCA p.P517A LRCH3_uc003fyj.1_Missense_Mutation_p.P517A|LRCH3_uc011bum.1_Missense_Mutation_p.P489A|LRCH3_uc011bun.1_Missense_Mutation_p.P363A|LRCH3_uc003fyk.2_Missense_Mutation_p.P112A NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 517 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) ATCACAAAGTCCACAAAAACA 0.373 28 320 --- --- --- --- PASS MED28 80306 broad.mit.edu 37 4 17616310 17616310 + Silent SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr4:17616310G>T uc003gpi.1 + 1 45 c.33G>T c.(31-33)GGG>GGT p.G11G MED28_uc003gpj.2_RNA NM_025205 NP_079481 Q9H204 MED28_HUMAN mediator complex subunit 28 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|membrane|nucleus actin binding 0 TGTTTTCTGGGCAGCCACCCG 0.647 17 67 --- --- --- --- PASS FAM13A 10144 broad.mit.edu 37 4 89950644 89950644 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr4:89950644C>T uc003hse.1 - 2 392 c.184G>A c.(184-186)GTG>ATG p.V62M FAM13A_uc003hsf.1_Translation_Start_Site|FAM13A_uc003hsh.1_Translation_Start_Site|FAM13A_uc003hsi.2_Missense_Mutation_p.V62M|FAM13A_uc003hsj.2_Missense_Mutation_p.V62M NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 62 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 ATATTCCACACTACTGCTGGA 0.398 57 183 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183601476 183601476 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr4:183601476G>A uc003ivd.1 + 8 1650 c.1613G>A c.(1612-1614)GGA>GAA p.G538E ODZ3_uc003ive.1_5'UTR NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 538 Extracellular (Potential).|EGF-like 1. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TGTTTTCCAGGATTTCTGGGT 0.413 14 45 --- --- --- --- PASS MTMR12 54545 broad.mit.edu 37 5 32243668 32243668 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:32243668C>G uc003jhq.2 - 11 1229 c.1059G>C c.(1057-1059)TGG>TGC p.W353C MTMR12_uc010iuk.2_Missense_Mutation_p.W353C|MTMR12_uc010iul.2_Missense_Mutation_p.W353C NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 353 Myotubularin phosphatase. cytoplasm phosphatase activity ovary(1) 1 ACAGAGAAAACCATTTTATAT 0.343 37 119 --- --- --- --- PASS RASA1 5921 broad.mit.edu 37 5 86685301 86685301 + Nonsense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:86685301C>G uc003kiw.2 + 24 3135 c.3017C>G c.(3016-3018)TCA>TGA p.S1006* RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Nonsense_Mutation_p.S829*|RASA1_uc011ctv.1_Nonsense_Mutation_p.S839*|RASA1_uc011ctw.1_Nonsense_Mutation_p.S840*|RASA1_uc010jaw.2_Nonsense_Mutation_p.S828* NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 1006 cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) GTGGCTCATTCAGATGAACTT 0.458 58 176 --- --- --- --- PASS SEC24A 10802 broad.mit.edu 37 5 134015299 134015299 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:134015299C>T uc003kzs.2 + 8 1550 c.1262C>T c.(1261-1263)CCT>CTT p.P421L SEC24A_uc011cxu.1_Missense_Mutation_p.P185L NM_021982 NP_068817 O95486 SC24A_HUMAN SEC24 related gene family, member A 421 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGCAATTGCCTGTGGTTACC 0.363 47 140 --- --- --- --- PASS PCDHB16 57717 broad.mit.edu 37 5 140564054 140564054 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:140564054G>A uc003liv.2 + 1 3075 c.1920G>A c.(1918-1920)CTG>CTA p.L640L PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 640 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCAGAGGCTGGTGGTGCTGG 0.701 9 16 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140594628 140594628 + Silent SNP A G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:140594628A>G uc003lja.1 + 1 1120 c.933A>G c.(931-933)GAA>GAG p.E311E NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 311 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGATTTCGAAAAACTTCAGT 0.378 37 231 --- --- --- --- PASS PCDHB15 56121 broad.mit.edu 37 5 140625809 140625809 + Silent SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:140625809C>G uc003lje.2 + 1 663 c.663C>G c.(661-663)CCC>CCG p.P221P NM_018935 NP_061758 Q9Y5E8 PCDBF_HUMAN protocadherin beta 15 precursor 221 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding ovary(2)|breast(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCTCCACCCCGATCTGGCA 0.592 14 36 --- --- --- --- PASS PCDHGA2 56113 broad.mit.edu 37 5 140720501 140720501 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:140720501T>C uc003ljk.1 + 1 2148 c.1963T>C c.(1963-1965)TCC>CCC p.S655P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.S655P NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 655 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCCCTCTCTCCGCCACTGT 0.701 18 26 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140750023 140750023 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:140750023T>C uc003ljw.1 + 1 62 c.62T>C c.(61-63)CTG>CCG p.L21P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc011dat.1_Missense_Mutation_p.L21P NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 21 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTTCTCTTCCTGCTCTCTTTG 0.582 17 61 --- --- --- --- PASS ADAM19 8728 broad.mit.edu 37 5 156932793 156932793 + Silent SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:156932793G>T uc003lwz.2 - 11 1078 c.1014C>A c.(1012-1014)GGC>GGA p.G338G ADAM19_uc003lww.1_Silent_p.G71G|ADAM19_uc003lwy.2_5'Flank|ADAM19_uc011ddr.1_Silent_p.G269G NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 338 Peptidase M12B.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TGGCAGCCACGCCAATGGCAT 0.582 8 18 --- --- --- --- PASS RARS 5917 broad.mit.edu 37 5 167944983 167944983 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:167944983C>G uc003lzx.2 + 14 1830 c.1789C>G c.(1789-1791)CTC>GTC p.L597V RARS_uc011deo.1_Missense_Mutation_p.L391V NM_002887 NP_002878 P54136 SYRC_HUMAN arginyl-tRNA synthetase 597 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|skin(1) 3 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TCTCCACACTCTCTGTGATTA 0.398 31 115 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170351426 170351426 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr5:170351426C>T uc003mba.2 + 12 1356 c.1340C>T c.(1339-1341)ACG>ATG p.T447M RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 447 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGTTGTGCACGGTCAGCAGA 0.413 T TRD@ ALL 29 71 --- --- --- --- PASS ZNF184 7738 broad.mit.edu 37 6 27419665 27419665 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:27419665T>C uc003njj.2 - 5 2484 c.1673A>G c.(1672-1674)TAT>TGT p.Y558C ZNF184_uc010jqv.2_Missense_Mutation_p.Y558C|ZNF184_uc003nji.2_Missense_Mutation_p.Y558C NM_007149 NP_009080 Q99676 ZN184_HUMAN zinc finger protein 184 558 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATGACACTGATAGGGTTTCTC 0.388 23 142 --- --- --- --- PASS BAT3 7917 broad.mit.edu 37 6 31609651 31609651 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:31609651C>A uc003nvg.3 - 16 2631 c.2317G>T c.(2317-2319)GGG>TGG p.G773W BAT3_uc003nvf.3_Missense_Mutation_p.G767W|BAT3_uc003nvh.3_Missense_Mutation_p.G767W|BAT3_uc003nvi.3_Missense_Mutation_p.G767W|BAT3_uc011dnw.1_Missense_Mutation_p.G767W|BAT3_uc011dnx.1_Missense_Mutation_p.G641W NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 773 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 TGGAAATGCCCATGGAGAAGC 0.557 19 55 --- --- --- --- PASS PPARD 5467 broad.mit.edu 37 6 35393715 35393715 + Silent SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:35393715C>G uc003okm.2 + 8 1494 c.1185C>G c.(1183-1185)CTC>CTG p.L395L PPARD_uc003okn.2_Silent_p.L395L|PPARD_uc011dtb.1_Silent_p.L356L|PPARD_uc011dtc.1_Silent_p.L297L NM_006238 NP_006229 Q03181 PPARD_HUMAN peroxisome proliferative activated receptor, 395 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) CCCAGTACCTCTTCCCCAAGC 0.607 19 68 --- --- --- --- PASS TTBK1 84630 broad.mit.edu 37 6 43250735 43250735 + Nonsense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:43250735G>T uc003ouq.1 + 14 2536 c.2257G>T c.(2257-2259)GAG>TAG p.E753* NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 753 Glu-rich.|Potential. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) ggaagaagaagaggaggaaga 0.264 9 19 --- --- --- --- PASS AARS2 57505 broad.mit.edu 37 6 44279932 44279932 + Missense_Mutation SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:44279932G>C uc010jza.1 - 2 315 c.312C>G c.(310-312)AAC>AAG p.N104K SPATS1_uc003oxg.2_Intron NM_020745 NP_065796 Q5JTZ9 SYAM_HUMAN alanyl-tRNA synthetase 2, mitochondrial 104 alanyl-tRNA aminoacylation mitochondrion alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding ovary(1) 1 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) L-Alanine(DB00160) ATTTCTGGCTGTTGGCCACAC 0.542 11 95 --- --- --- --- PASS IMPG1 3617 broad.mit.edu 37 6 76713617 76713617 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:76713617G>A uc003pik.1 - 11 1316 c.1186C>T c.(1186-1188)CCC>TCC p.P396S NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 396 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) AAAGATGTGGGCAGCTCTGAT 0.383 20 86 --- --- --- --- PASS TPBG 7162 broad.mit.edu 37 6 83075249 83075249 + Nonsense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:83075249C>T uc003pjn.3 + 3 1507 c.571C>T c.(571-573)CAG>TAG p.Q191* TPBG_uc010kbj.2_Nonsense_Mutation_p.Q191*|TPBG_uc003pjo.2_Nonsense_Mutation_p.Q191* NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 191 Extracellular (Potential). cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) AGATGAGCGGCAGAACCGGAG 0.652 22 196 --- --- --- --- PASS DCBLD1 285761 broad.mit.edu 37 6 117862184 117862184 + Silent SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr6:117862184C>T uc003pxs.2 + 11 1478 c.1353C>T c.(1351-1353)TCC>TCT p.S451S GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Silent_p.S451S|DCBLD1_uc003pxt.1_Silent_p.S106S NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 451 Extracellular (Potential). cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) AAGAAACATCCACAGGTAGAG 0.418 14 47 --- --- --- --- PASS DGKB 1607 broad.mit.edu 37 7 14620493 14620493 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr7:14620493C>G uc003ssz.2 - 18 1793 c.1606G>C c.(1606-1608)GGA>CGA p.G536R DGKB_uc011jxt.1_Missense_Mutation_p.G517R|DGKB_uc003sta.2_Missense_Mutation_p.G536R|DGKB_uc011jxu.1_Missense_Mutation_p.G535R NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 536 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TTACCTCCTCCCCATCGCAGG 0.428 11 78 --- --- --- --- PASS NPVF 64111 broad.mit.edu 37 7 25266624 25266624 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr7:25266624C>T uc003sxo.2 - 2 207 c.160G>A c.(160-162)GAA>AAA p.E54K NM_022150 NP_071433 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 54 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity ovary(1) 1 AGGCTTCTTTCCCCTTTTGGG 0.348 48 214 --- --- --- --- PASS BBS9 27241 broad.mit.edu 37 7 33427616 33427616 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr7:33427616G>T uc003tdn.1 + 19 2488 c.1975G>T c.(1975-1977)GGT>TGT p.G659C BBS9_uc003tdo.1_Missense_Mutation_p.G624C|BBS9_uc003tdp.1_Missense_Mutation_p.G654C|BBS9_uc003tdq.1_Missense_Mutation_p.G619C|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.G183C|BBS9_uc003tds.1_Missense_Mutation_p.G82C|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 659 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) ACGGATAAATGGTGAAAAATT 0.333 Bardet-Biedl_syndrome 55 280 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43484125 43484125 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr7:43484125G>T uc003tid.1 + 11 1959 c.1354G>T c.(1354-1356)GCC>TCC p.A452S HECW1_uc011kbi.1_Missense_Mutation_p.A452S NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 452 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CATCCAGCCTGCCCCCAGTGC 0.642 4 19 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82581271 82581271 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr7:82581271C>A uc003uhx.2 - 5 9287 c.8998G>T c.(8998-9000)GCA>TCA p.A3000S PCLO_uc003uhv.2_Missense_Mutation_p.A3000S|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2931 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CCAGCTTCTGCTAAATTTGTG 0.403 56 327 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150554527 150554527 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr7:150554527C>G uc003why.1 + 3 5187 c.969C>G c.(967-969)AGC>AGG p.S323R ABP1_uc003whz.1_Missense_Mutation_p.S323R|ABP1_uc003wia.1_Missense_Mutation_p.S323R NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 323 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GCGGCTGGAGCTTTGCCTTCC 0.672 14 13 --- --- --- --- PASS TNKS 8658 broad.mit.edu 37 8 9634202 9634202 + Missense_Mutation SNP G A A rs140882876 TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr8:9634202G>A uc003wss.2 + 27 3945 c.3940G>A c.(3940-3942)GAA>AAA p.E1314K TNKS_uc011kww.1_Missense_Mutation_p.E1077K NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 1314 PARP catalytic. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) CATGAAGCCAGAAGCCCCTTC 0.483 8 57 --- --- --- --- PASS GATA4 2626 broad.mit.edu 37 8 11607664 11607664 + Silent SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr8:11607664C>A uc003wuc.2 + 4 1382 c.828C>A c.(826-828)ACC>ACA p.T276T GATA4_uc003wub.1_Silent_p.T70T|GATA4_uc011kxc.1_Silent_p.T277T NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 276 GATA-type 2.|Poly-Thr. atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) ACTGCCAGACCACCACCACCA 0.627 13 33 --- --- --- --- PASS COPS5 10987 broad.mit.edu 37 8 67970337 67970337 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr8:67970337T>C uc003xxe.2 - 3 819 c.488A>G c.(487-489)GAA>GGA p.E163G COPS5_uc003xxd.2_Missense_Mutation_p.E99G|COPS5_uc003xxf.2_Missense_Mutation_p.E208G|COPS5_uc010lyu.1_5'Flank|COPS5_uc010lyv.1_Missense_Mutation_p.E163G NM_006837 NP_006828 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 163 MPN. cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity ovary(1)|skin(1) 2 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) TACAAATGGTTCCTGGAACTG 0.378 26 139 --- --- --- --- PASS RDH10 157506 broad.mit.edu 37 8 74209534 74209534 + Missense_Mutation SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr8:74209534T>A uc003xzi.2 + 2 655 c.395T>A c.(394-396)GTC>GAC p.V132D RDH10_uc003xzj.2_5'UTR NM_172037 NP_742034 Q8IZV5 RDH10_HUMAN retinol dehydrogenase 10 132 retinal metabolic process|retinol metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|microsome binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity 0 Breast(64;0.0954) Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608) GCTGAAAGAGTCCGCAAGGAG 0.512 36 150 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113256749 113256749 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr8:113256749C>G uc003ynu.2 - 65 10435 c.10276G>C c.(10276-10278)GAC>CAC p.D3426H CSMD3_uc003yns.2_Missense_Mutation_p.D2628H|CSMD3_uc003ynt.2_Missense_Mutation_p.D3386H|CSMD3_uc011lhx.1_Missense_Mutation_p.D3257H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3426 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GATGGAAGGTCCATCCCTACG 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 129 --- --- --- --- PASS EFR3A 23167 broad.mit.edu 37 8 132980672 132980672 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr8:132980672C>G uc003yte.2 + 9 1187 c.986C>G c.(985-987)TCC>TGC p.S329C NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 329 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCTAAAGGTTCCATAGGTGAG 0.403 17 58 --- --- --- --- PASS XPA 7507 broad.mit.edu 37 9 100459559 100459559 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr9:100459559C>T uc004axr.3 - 1 133 c.16G>A c.(16-18)GGG>AGG p.G6R XPA_uc004axs.3_RNA NM_000380 NP_000371 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A 6 Interaction with CEP164 and required for UV resistance. nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1) 1 Acute lymphoblastic leukemia(62;0.158) GGCAAAGCCCCGTCGGCCGCC 0.726 Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 12 22 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104433333 104433333 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr9:104433333G>A uc004bbp.1 - 3 1962 c.1361C>T c.(1360-1362)TCC>TTC p.S454F GRIN3A_uc004bbq.1_Missense_Mutation_p.S454F NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 454 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GACGATGGTGGAACCTTTTAC 0.493 71 205 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104433334 104433334 + Missense_Mutation SNP A T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr9:104433334A>T uc004bbp.1 - 3 1961 c.1360T>A c.(1360-1362)TCC>ACC p.S454T GRIN3A_uc004bbq.1_Missense_Mutation_p.S454T NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 454 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) ACGATGGTGGAACCTTTTACT 0.498 71 203 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113170734 113170734 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr9:113170734G>A uc010mtz.2 - 38 7483 c.7146C>T c.(7144-7146)ACC>ACT p.T2382T SVEP1_uc010mty.2_Silent_p.T308T NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 2382 Sushi 17. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GGGGAGGTGGGGTACAAAGAA 0.458 15 46 --- --- --- --- PASS SARDH 1757 broad.mit.edu 37 9 136529034 136529034 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr9:136529034T>C uc004cep.3 - 21 2868 c.2734A>G c.(2734-2736)AAG>GAG p.K912E SARDH_uc004ceo.2_Missense_Mutation_p.K912E|SARDH_uc011mdn.1_Missense_Mutation_p.K912E|SARDH_uc011mdo.1_Missense_Mutation_p.K744E|SARDH_uc004cen.2_Missense_Mutation_p.K362E NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 912 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TTCACCCTCTTGTTGTTGGGG 0.592 61 132 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16882993 16882993 + Silent SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:16882993G>C uc001ioo.2 - 61 9769 c.9717C>G c.(9715-9717)TCC>TCG p.S3239S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3239 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CAGGTACTGTGGAACCACAAA 0.368 16 62 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25464669 25464669 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:25464669G>A uc001isj.2 + 1 380 c.320G>A c.(319-321)GGC>GAC p.G107D LOC100128811_uc010qde.1_Missense_Mutation_p.P95S NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 107 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GAGTTGGCGGGCCTGCCGGGG 0.677 7 39 --- --- --- --- PASS RET 5979 broad.mit.edu 37 10 43600539 43600539 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:43600539G>T uc001jal.2 + 4 955 c.765G>T c.(763-765)ATG>ATT p.M255I RET_uc001jak.1_Missense_Mutation_p.M255I|RET_uc010qez.1_Missense_Mutation_p.M1I NM_020975 NP_066124 P07949 RET_HUMAN ret proto-oncogene isoform a 255 Cadherin.|Extracellular (Potential). homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1) 451 Ovarian(717;0.0423) Sunitinib(DB01268) AGGTGGTGATGGTGCCCTTCC 0.716 1 T|Mis|N|F H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3 medullary thyroid| papillary thyroid|pheochromocytoma medullary thyroid| papillary thyroid|pheochromocytoma Hirschsprung disease Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma 5 25 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48389921 48389921 + Silent SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:48389921G>T uc001jez.2 - 1 1071 c.957C>A c.(955-957)ATC>ATA p.I319I NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 319 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GCAGAGTGAGGATGGCCAGGG 0.687 10 67 --- --- --- --- PASS LRIT1 26103 broad.mit.edu 37 10 85991773 85991773 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:85991773C>A uc001kcz.1 - 4 1804 c.1782G>T c.(1780-1782)GAG>GAT p.E594D NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 594 Cytoplasmic (Potential).|LRR 6. integral to endoplasmic reticulum membrane 0 GCCTGTCAGCCTCGCTGACAC 0.562 9 44 --- --- --- --- PASS INPP5F 22876 broad.mit.edu 37 10 121571349 121571349 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:121571349G>A uc001leo.2 + 15 1934 c.1768G>A c.(1768-1770)GAA>AAA p.E590K NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 590 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TTTGCATAAGGAAAATCAGAG 0.413 49 186 --- --- --- --- PASS FGFR2 2263 broad.mit.edu 37 10 123247514 123247514 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:123247514C>G uc010qtk.1 - 15 2624 c.1977G>C c.(1975-1977)AAG>AAC p.K659N FGFR2_uc010qtg.1_Missense_Mutation_p.K547N|FGFR2_uc010qth.1_Missense_Mutation_p.K544N|FGFR2_uc010qti.1_Missense_Mutation_p.K570N|FGFR2_uc010qtj.1_Missense_Mutation_p.K660N|FGFR2_uc010qtl.1_Missense_Mutation_p.K543N|FGFR2_uc010qtm.1_Missense_Mutation_p.K542N|FGFR2_uc001lfl.3_Missense_Mutation_p.K660N|FGFR2_uc001lfm.2_Missense_Mutation_p.K571N|FGFR2_uc001lfg.3_Missense_Mutation_p.K267N NM_000141 NP_000132 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 isoform 1 659 Cytoplasmic (Potential).|Protein kinase. K -> N (in craniosynostosis). angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding p.K659E(1)|p.K659N(1)|p.K659M(1) endometrium(44)|skin(28)|lung(11)|ovary(4)|cervix(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|soft_tissue(1)|central_nervous_system(1) 96 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CATTGGTGGTCTTTTTGTAAT 0.448 5 Mis gastric. NSCLC|endometrial Crouzon|Pfeiffer|and Apert syndromes Apert_syndrome|Saethre-Chotzen_syndrome 62 260 --- --- --- --- PASS PWWP2B 170394 broad.mit.edu 37 10 134219581 134219581 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr10:134219581C>T uc001lll.3 + 2 1606 c.1577C>T c.(1576-1578)GCG>GTG p.A526V PWWP2B_uc009ybe.2_Intron NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 526 PWWP. 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) TGGCGAGAAGCGAAGGTCTCG 0.493 8 115 --- --- --- --- PASS RAG1 5896 broad.mit.edu 37 11 36595189 36595189 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:36595189G>T uc001mwu.3 + 2 459 c.335G>T c.(334-336)CGC>CTC p.R112L RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 112 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) CATCTCTGCCGCATCTGTGGG 0.453 Familial_Hemophagocytic_Lymphohistiocytosis 35 161 --- --- --- --- PASS OR4C15 81309 broad.mit.edu 37 11 55322705 55322705 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:55322705T>C uc010rig.1 + 1 923 c.923T>C c.(922-924)ATA>ACA p.I308T NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 254 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTCCCATGCATATTTGTATAT 0.413 HNSCC(20;0.049) 76 298 --- --- --- --- PASS SPRYD5 84767 broad.mit.edu 37 11 55658883 55658883 + Silent SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:55658883T>C uc010rip.1 + 7 1226 c.1134T>C c.(1132-1134)TTT>TTC p.F378F SPRYD5_uc010riq.1_Silent_p.F235F NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 378 B30.2/SPRY. intracellular zinc ion binding 0 all_epithelial(135;0.226) AGGGACTCTTTCTTCTTGGAT 0.443 22 89 --- --- --- --- PASS OR5T2 219464 broad.mit.edu 37 11 55999725 55999725 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:55999725C>A uc010rjc.1 - 1 937 c.937G>T c.(937-939)GTG>TTG p.V313L NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 313 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) AATATTGACACTATCATGTCA 0.393 45 251 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258303 56258303 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:56258303G>A uc001nix.1 - 1 544 c.544C>T c.(544-546)CCA>TCA p.P182S NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 182 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) TTAATCAGTGGTGGGTCCGCA 0.463 44 117 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995454 57995454 + Missense_Mutation SNP C A A rs149201883 byFrequency TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:57995454C>A uc010rkd.1 - 1 894 c.894G>T c.(892-894)AGG>AGT p.R298S NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 298 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) CATCCTTGTTCCTAAGGCTGT 0.542 46 216 --- --- --- --- PASS OR4D6 219983 broad.mit.edu 37 11 59224673 59224673 + Missense_Mutation SNP G T T rs139230114 byFrequency TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:59224673G>T uc010rku.1 + 1 240 c.240G>T c.(238-240)AAG>AAT p.K80N NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCGTCCCCAAGTTCCTGGTGG 0.448 49 188 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64390513 64390513 + Missense_Mutation SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:64390513G>C uc001oap.2 - 6 1258 c.747C>G c.(745-747)ATC>ATG p.I249M NRXN2_uc001oar.2_Missense_Mutation_p.I1295M|NRXN2_uc001oas.2_Missense_Mutation_p.I1225M|NRXN2_uc001oao.2_Translation_Start_Site|NRXN2_uc001oaq.2_Missense_Mutation_p.I962M NM_138734 NP_620063 P58401 NRX2B_HUMAN neurexin 2 isoform beta precursor 249 Extracellular (Potential).|Laminin G-like. cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 CCCCGATCTTGATGGCAGCCT 0.483 7 17 --- --- --- --- PASS CTTN 2017 broad.mit.edu 37 11 70266527 70266527 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:70266527G>A uc001opv.3 + 10 907 c.701G>A c.(700-702)GGA>GAA p.G234E CTTN_uc001opu.2_Missense_Mutation_p.G234E|CTTN_uc001opw.3_Missense_Mutation_p.G234E|CTTN_uc010rqm.1_5'UTR|CTTN_uc001opx.2_5'Flank NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 234 Cortactin 5. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGGTTTGGAGGAAAATTTGGT 0.443 19 89 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92087169 92087169 + Missense_Mutation SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:92087169G>C uc001pdj.3 + 1 1908 c.1891G>C c.(1891-1893)GGT>CGT p.G631R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 631 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CCCAGATTCTGGTGTTTTACA 0.373 TCGA Ovarian(4;0.039) 9 34 --- --- --- --- PASS ZNF202 7753 broad.mit.edu 37 11 123601319 123601319 + Missense_Mutation SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:123601319T>A uc001pzd.1 - 4 678 c.278A>T c.(277-279)CAA>CTA p.Q93L ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.Q93L|ZNF202_uc001pzf.1_Missense_Mutation_p.Q93L NM_003455 NP_003446 O95125 ZN202_HUMAN zinc finger protein 202 93 SCAN box. lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) GGTAAGAAATTGTTCCAGCAC 0.557 27 109 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124767626 124767626 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr11:124767626G>A uc001qbg.2 - 1 206 c.66C>T c.(64-66)ATC>ATT p.I22I ROBO4_uc010sas.1_5'UTR|ROBO4_uc001qbh.2_Silent_p.I22I|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 22 angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) ACTCACCCATGATGAGCAGGA 0.632 20 57 --- --- --- --- PASS CCND2 894 broad.mit.edu 37 12 4383320 4383320 + Silent SNP T C C rs146122734 byFrequency TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:4383320T>C uc001qmo.2 + 1 419 c.114T>C c.(112-114)CTT>CTC p.L38L NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 38 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) AGCGCTACCTTCCGCAGTGCT 0.657 T IGL@ NHL,CLL 16 81 --- --- --- --- PASS CCND2 894 broad.mit.edu 37 12 4383326 4383326 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:4383326G>T uc001qmo.2 + 1 425 c.120G>T c.(118-120)CAG>CAT p.Q40H NM_001759 NP_001750 P30279 CCND2_HUMAN cyclin D2 40 Cyclin N-terminal. cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus protein kinase binding haematopoietic_and_lymphoid_tissue(1)|breast(1)|kidney(1) 3 all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206) ACCTTCCGCAGTGCTCCTACT 0.652 T IGL@ NHL,CLL 17 85 --- --- --- --- PASS ACSM4 341392 broad.mit.edu 37 12 7479581 7479581 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:7479581G>A uc001qsx.1 + 12 1546 c.1546G>A c.(1546-1548)GCT>ACT p.A516T NM_001080454 NP_001073923 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 516 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding 0 GGTGGTGAAAGCTTTTGTTGT 0.363 4 38 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7803649 7803649 + Silent SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:7803649C>T uc001qtb.2 - 4 565 c.531G>A c.(529-531)TTG>TTA p.L177L APOBEC1_uc001qtc.2_Silent_p.L132L|APOBEC1_uc010sgf.1_Silent_p.L177L NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 177 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 CCAGTGCGTACAACATCATCC 0.443 57 184 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20799885 20799885 + Splice_Site SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:20799885G>T uc001reh.1 + 12 2587 c.2565_splice c.e12+1 p.Q855_splice NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGCTCCTCAGGTAAATCTTTA 0.403 41 144 --- --- --- --- PASS PDE3A 5139 broad.mit.edu 37 12 20799886 20799886 + Splice_Site SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:20799886T>A uc001reh.1 + 12 2587 c.2565_splice c.e12+2 p.Q855_splice NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GCTCCTCAGGTAAATCTTTAG 0.408 40 144 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49421838 49421838 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:49421838G>A uc001rta.3 - 46 14469 c.14469C>T c.(14467-14469)CCC>CCT p.P4823P NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 4823 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CTGCCCGGGCGGGGCTCTCTG 0.622 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 12 66 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49445909 49445909 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:49445909G>A uc001rta.3 - 10 1557 c.1557C>T c.(1555-1557)CCC>CCT p.P519P NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 519 15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GTGGAGACAAGGGCGACTCCT 0.607 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 15 54 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57974791 57974791 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:57974791G>T uc001sor.1 + 24 2799 c.2591G>T c.(2590-2592)CGA>CTA p.R864L KIF5A_uc010srr.1_Missense_Mutation_p.R775L NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 864 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 TTGGAAAAACGACTTAGGGCT 0.557 11 41 --- --- --- --- PASS CNOT2 4848 broad.mit.edu 37 12 70740017 70740017 + Silent SNP A G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:70740017A>G uc001svv.2 + 15 2028 c.1449A>G c.(1447-1449)CCA>CCG p.P483P CNOT2_uc009zro.2_Silent_p.P483P|CNOT2_uc009zrp.2_Silent_p.P463P|CNOT2_uc009zrq.2_Silent_p.P483P NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 483 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) CCAGGGCACCAGGCATGGAGC 0.373 25 138 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116457205 116457205 + Missense_Mutation SNP A C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr12:116457205A>C uc001tvw.2 - 7 888 c.833T>G c.(832-834)ATG>AGG p.M278R NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 278 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) AGGGTAAACCATCCGAACACC 0.438 16 82 --- --- --- --- PASS FLT3 2322 broad.mit.edu 37 13 28601260 28601260 + Missense_Mutation SNP A T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr13:28601260A>T uc001urw.2 - 17 2254 c.2172T>A c.(2170-2172)AGT>AGA p.S724R FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.S724R NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 724 Protein kinase.|Cytoplasmic (Potential). positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) TGGGGTAAAAACTGAAATTGT 0.383 Mis|O AML|ALL 64 214 --- --- --- --- PASS DCLK1 9201 broad.mit.edu 37 13 36521578 36521578 + Missense_Mutation SNP T G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr13:36521578T>G uc001uvf.2 - 4 973 c.740A>C c.(739-741)GAC>GCC p.D247A NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 247 Doublecortin 2. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) ACCAAAAAAGTCCTGAAGGCA 0.423 10 29 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23894936 23894936 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr14:23894936C>G uc001wjx.2 - 20 2360 c.2254G>C c.(2254-2256)GAT>CAT p.D752H NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 752 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TGGTTGTGATCAATGTCCAGG 0.498 24 137 --- --- --- --- PASS DHRS4L2 317749 broad.mit.edu 37 14 24470139 24470139 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr14:24470139G>A uc001wli.3 + 4 606 c.476G>A c.(475-477)CGA>CAA p.R159Q DHRS4_uc001wlc.3_Intron|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron|DHRS4L2_uc001wlg.3_Intron|DHRS4L2_uc001wlh.3_Intron|DHRS4L2_uc010tnt.1_Intron|DHRS4L2_uc010alb.2_Missense_Mutation_p.R33Q NM_198083 NP_932349 D5KJA1 D5KJA1_HUMAN dehydrogenase/reductase (SDR family) member 4 97 binding|oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) ATGGAGAAACGAGGGTACAGA 0.547 11 69 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 75070376 75070376 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr14:75070376C>G uc001xqa.2 - 2 914 c.527G>C c.(526-528)GGA>GCA p.G176A NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 176 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGTTGTCCATCCTGGGCAGCA 0.562 21 54 --- --- --- --- PASS PACS2 23241 broad.mit.edu 37 14 105860993 105860993 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr14:105860993C>G uc001yqt.2 + 24 2829 c.2654C>G c.(2653-2655)TCC>TGC p.S885C PACS2_uc001yqs.2_Missense_Mutation_p.S810C|PACS2_uc001yqv.2_Missense_Mutation_p.S889C|PACS2_uc001yqu.2_Missense_Mutation_p.S900C NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 885 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) TTCGGACACTCCAAGGCCACC 0.597 19 106 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106453064 106453064 + RNA SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr14:106453064T>A uc010tyt.1 - 1974 c.37775A>T Parts of antibodies, mostly variable regions. 0 CTCTTACCTGTGGCTGCTGCC 0.552 11 15 --- --- --- --- PASS SNRPN 6638 broad.mit.edu 37 15 25220572 25220572 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:25220572G>T uc001ywp.1 + 8 961 c.71G>T c.(70-72)GGC>GTC p.G24V SNRPN_uc001ywq.1_Missense_Mutation_p.G24V|SNRPN_uc001ywr.1_Missense_Mutation_p.G24V|SNRPN_uc001yws.1_Missense_Mutation_p.G24V|SNRPN_uc001ywt.1_Missense_Mutation_p.G24V|SNRPN_uc001ywv.1_Missense_Mutation_p.G27V|SNRPN_uc001yww.1_Missense_Mutation_p.G24V|SNRPN_uc001ywx.1_Missense_Mutation_p.G24V|SNRPN_uc001ywz.1_Intron|PAR-SN_uc001yxa.1_Intron|SNRPN_uc001ywy.1_3'UTR NM_022807 NP_073718 P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 24 RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding ovary(1) 1 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) CTGCAAGATGGCCGAATCTTC 0.418 Prader-Willi_syndrome 31 174 --- --- --- --- PASS TRPM1 4308 broad.mit.edu 37 15 31294542 31294542 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:31294542C>A uc001zfm.2 - 27 4423 c.4295G>T c.(4294-4296)TGT>TTT p.C1432F TRPM1_uc010azy.2_Missense_Mutation_p.C1339F|TRPM1_uc001zfl.2_RNA NM_002420 NP_002411 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, 1432 Cytoplasmic (Potential). cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CATTGTTTTACAAGCATTGAT 0.448 52 222 --- --- --- --- PASS CHRM5 1133 broad.mit.edu 37 15 34356323 34356323 + Missense_Mutation SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:34356323G>C uc001zhk.1 + 3 2075 c.1405G>C c.(1405-1407)GAC>CAC p.D469H CHRM5_uc001zhl.1_Missense_Mutation_p.D469H NM_012125 NP_036257 P08912 ACM5_HUMAN cholinergic receptor, muscarinic 5 469 Extracellular (By similarity). cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(1)|central_nervous_system(1) 2 all_lung(180;1.76e-08) all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372) TACCTTCTGTGACAAGTGTGT 0.507 30 162 --- --- --- --- PASS ATPBD4 89978 broad.mit.edu 37 15 35746978 35746978 + Missense_Mutation SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:35746978G>C uc001zja.2 - 4 418 c.356C>G c.(355-357)TCT>TGT p.S119C ATPBD4_uc001ziz.2_Missense_Mutation_p.S103C NM_080650 NP_542381 Q7L8W6 ATBD4_HUMAN ATP binding domain 4 isoform 1 119 0 all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07) all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) CTGATAGTCAGAAAGTATAGC 0.284 28 166 --- --- --- --- PASS ZSCAN29 146050 broad.mit.edu 37 15 43662013 43662013 + Silent SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:43662013C>G uc001zrk.1 - 1 246 c.99G>C c.(97-99)CGG>CGC p.R33R ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdf.1_Silent_p.R32R|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Silent_p.R32R|ZSCAN29_uc001zrm.2_Silent_p.R32R|TUBGCP4_uc001zrn.2_5'Flank|TUBGCP4_uc001zro.2_5'Flank NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 33 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) TGAAAGCCTCCCGCGGCCCAG 0.542 14 97 --- --- --- --- PASS TP53BP1 7158 broad.mit.edu 37 15 43762214 43762214 + Nonsense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:43762214G>A uc001zrs.2 - 11 1364 c.1216C>T c.(1216-1218)CAG>TAG p.Q406* TP53BP1_uc010udp.1_Nonsense_Mutation_p.Q406*|TP53BP1_uc001zrq.3_Nonsense_Mutation_p.Q411*|TP53BP1_uc001zrr.3_Nonsense_Mutation_p.Q411*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.Q411* NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 406 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) AGTTTCTTCTGAAAAGGCTCT 0.423 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 44 157 --- --- --- --- PASS WDR72 256764 broad.mit.edu 37 15 53992045 53992045 + Missense_Mutation SNP T G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:53992045T>G uc002acj.2 - 13 1709 c.1667A>C c.(1666-1668)CAC>CCC p.H556P WDR72_uc010bfi.1_Missense_Mutation_p.H556P NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 556 WD 8. lung(1)|skin(1) 2 all cancers(107;0.0511) AGGAAAAAGGTGCTTCCGGGC 0.468 71 250 --- --- --- --- PASS IGDCC3 9543 broad.mit.edu 37 15 65623451 65623451 + Missense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:65623451C>T uc002aos.2 - 9 1750 c.1498G>A c.(1498-1500)GCC>ACC p.A500T IGDCC3_uc002aor.1_5'Flank NM_004884 NP_004875 Q8IVU1 IGDC3_HUMAN putative neuronal cell adhesion molecule 500 Extracellular (Potential).|Fibronectin type-III 1. ovary(3) 3 GGTGTGTAGGCCTTGATGTAG 0.607 51 247 --- --- --- --- PASS TLE3 7090 broad.mit.edu 37 15 70351755 70351755 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:70351755G>A uc002asm.2 - 10 1878 c.759C>T c.(757-759)TCC>TCT p.S253S TLE3_uc002ask.2_Silent_p.S197S|TLE3_uc002asl.2_Silent_p.S258S|TLE3_uc010ukd.1_Silent_p.S246S|TLE3_uc010bik.1_Intron|TLE3_uc010bil.1_Silent_p.S253S|TLE3_uc002asn.2_Silent_p.S253S|TLE3_uc002asp.2_Silent_p.S253S|TLE3_uc002aso.2_Silent_p.S253S NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 253 CCN domain. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 ATACCTCATTGGAAACATCCA 0.522 5 24 --- --- --- --- PASS C15orf60 283677 broad.mit.edu 37 15 73843356 73843356 + Silent SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:73843356T>C uc002avq.2 + 4 439 c.411T>C c.(409-411)GTT>GTC p.V137V C15orf60_uc010bjb.2_Silent_p.V109V NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 137 pancreas(1) 1 GCAGTTGTGTTCAGAAGCTGG 0.502 13 89 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77425619 77425619 + Nonsense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr15:77425619G>A uc002bcm.2 - 5 4113 c.3805C>T c.(3805-3807)CAG>TAG p.Q1269* NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1269 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TGCGGCTTCTGGATGCCTCGG 0.512 46 122 --- --- --- --- PASS TELO2 9894 broad.mit.edu 37 16 1545551 1545551 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr16:1545551C>A uc002cly.2 + 3 831 c.540C>A c.(538-540)TTC>TTA p.F180L TELO2_uc010uvg.1_Missense_Mutation_p.F180L NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN TEL2, telomere maintenance 2, homolog 180 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding 0 Hepatocellular(780;0.219) CCGAGTTCTTCCCCCAGAACT 0.672 9 103 --- --- --- --- PASS IFT140 9742 broad.mit.edu 37 16 1561094 1561094 + Missense_Mutation SNP A G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr16:1561094A>G uc002cmb.2 - 31 4602 c.4240T>C c.(4240-4242)TAC>CAC p.Y1414H IFT140_uc002clz.2_Missense_Mutation_p.Y1027H NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 1414 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) GGGCTCACGTAGTAGGACATG 0.652 5 15 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29883585 29883585 + Missense_Mutation SNP A G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr16:29883585A>G uc002duq.3 - 16 2866 c.2626T>C c.(2626-2628)TTC>CTC p.F876L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.F819L|SEZ6L2_uc002dur.3_Missense_Mutation_p.F806L|SEZ6L2_uc002dus.3_Missense_Mutation_p.F775L|SEZ6L2_uc010vec.1_Missense_Mutation_p.F889L|SEZ6L2_uc010ved.1_Missense_Mutation_p.F845L NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 876 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 GAGAAGCCGAAAAGGGACTTT 0.607 14 52 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49672053 49672053 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr16:49672053C>A uc002efs.2 - 5 1308 c.1010G>T c.(1009-1011)GGT>GTT p.G337V ZNF423_uc010vgn.1_Missense_Mutation_p.G220V NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 337 C2H2-type 8. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GCAGTAGACACCTTCCACTGA 0.617 8 41 --- --- --- --- PASS TXNL4B 54957 broad.mit.edu 37 16 72122950 72122950 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr16:72122950C>G uc002fca.2 - 3 531 c.220G>C c.(220-222)GAC>CAC p.D74H TXNL4B_uc010cgl.2_RNA|TXNL4B_uc010vmn.1_Missense_Mutation_p.D74H|TXNL4B_uc010vmo.1_Missense_Mutation_p.D74H NM_017853 NP_060323 Q9NX01 TXN4B_HUMAN thioredoxin-like 4B 74 mitosis|mRNA processing|RNA splicing spliceosomal complex ovary(1) 1 TAACTGATGTCAAAATACTGT 0.378 40 184 --- --- --- --- PASS NUDT7 283927 broad.mit.edu 37 16 77775789 77775789 + Missense_Mutation SNP T C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr16:77775789T>C uc010chd.2 + 4 728 c.659T>C c.(658-660)TTA>TCA p.L220S NUDT7_uc010vnj.1_Missense_Mutation_p.L167S NM_001105663 NP_001099133 P0C024 NUDT7_HUMAN nudix motif 7 220 nucleoside diphosphate metabolic process peroxisome hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding ovary(1)|kidney(1) 2 AATGATGTATTAGCATCCTCT 0.378 41 151 --- --- --- --- PASS KIAA0513 9764 broad.mit.edu 37 16 85111096 85111096 + Nonsense_Mutation SNP A T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr16:85111096A>T uc002fiu.2 + 6 860 c.640A>T c.(640-642)AAA>TAA p.K214* KIAA0513_uc002fis.3_Nonsense_Mutation_p.K214*|KIAA0513_uc010voj.1_Nonsense_Mutation_p.K214*|KIAA0513_uc002fit.2_Nonsense_Mutation_p.K214* NM_014732 NP_055547 O60268 K0513_HUMAN hypothetical protein LOC9764 214 cytoplasm breast(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.234) CTCCTACCTGAAATCCGCAAA 0.607 8 47 --- --- --- --- PASS GSDMB 55876 broad.mit.edu 37 17 38073396 38073396 + Silent SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr17:38073396C>T uc010cwj.2 - 1 179 c.174G>A c.(172-174)CTG>CTA p.L58L GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Silent_p.L58L|GSDMB_uc002hth.2_Silent_p.L58L|GSDMB_uc010wem.1_Silent_p.L58L NM_001042471 NP_001035936 Q8TAX9 GSDMB_HUMAN gasdermin B isoform 1 58 cytoplasm breast(1)|pancreas(1) 2 GAATGTCCATCAGGGTGAGGC 0.517 29 127 --- --- --- --- PASS KRT20 54474 broad.mit.edu 37 17 39034494 39034494 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr17:39034494G>A uc002hvl.2 - 6 1084 c.1042C>T c.(1042-1044)CGC>TGC p.R348C NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 348 Rod.|Coil 2. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) TTGTTCTGGCGTTCCATGTTA 0.498 66 190 --- --- --- --- PASS ENGASE 64772 broad.mit.edu 37 17 77073513 77073513 + Missense_Mutation SNP A T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr17:77073513A>T uc002jwv.2 + 2 156 c.148A>T c.(148-150)ATC>TTC p.I50F ENGASE_uc002jwu.1_Missense_Mutation_p.I50F|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 50 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 TTTGCTTAGCATCAAAGATGA 0.423 6 56 --- --- --- --- PASS ENPP7 339221 broad.mit.edu 37 17 77705076 77705076 + Nonsense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr17:77705076C>T uc002jxa.2 + 1 195 c.175C>T c.(175-177)CGA>TGA p.R59* NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 59 negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CGCCATGGCCCGAGACGGGGT 0.632 6 18 --- --- --- --- PASS SMAD4 4089 broad.mit.edu 37 18 48581243 48581243 + Nonsense_Mutation SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr18:48581243C>T uc010xdp.1 + 5 1085 c.547C>T c.(547-549)CAG>TAG p.Q183* SMAD4_uc010xdo.1_RNA|SMAD4_uc002lfb.3_Nonsense_Mutation_p.Q28* NM_005359 NP_005350 Q13485 SMAD4_HUMAN mothers against decapentaplegic homolog 4 183 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(35)|p.?(3) pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1) 369 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TCAAACCATCCAGCATCCACC 0.468 Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia 48 152 --- --- --- --- PASS TMX3 54495 broad.mit.edu 37 18 66344308 66344308 + Silent SNP T G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr18:66344308T>G uc002lkf.2 - 16 1362 c.1227A>C c.(1225-1227)CGA>CGC p.R409R TMX3_uc010xez.1_Silent_p.R268R NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN thioredoxin domain containing 10 precursor 409 Cytoplasmic (Potential). cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity skin(1) 1 ACACTTCATATCGTTCTTCTA 0.458 42 182 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9085145 9085145 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr19:9085145C>G uc002mkp.2 - 1 6874 c.6670G>C c.(6670-6672)GCA>CCA p.A2224P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2224 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GGTGGACCTGCGCTGTTTACT 0.483 28 62 --- --- --- --- PASS OR10H1 26539 broad.mit.edu 37 19 15918457 15918457 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr19:15918457G>T uc002nbq.2 - 1 480 c.391C>A c.(391-393)CGC>AGC p.R131S NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACGTTGTAGCGCAGGGGGTGG 0.632 11 24 --- --- --- --- PASS MEGF8 1954 broad.mit.edu 37 19 42839328 42839328 + Missense_Mutation SNP G T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr19:42839328G>T uc002otl.3 + 4 1335 c.700G>T c.(700-702)GCC>TCC p.A234S MEGF8_uc002otm.3_5'Flank NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 234 Extracellular (Potential). integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGCAGCTGGCGCCTTCCTGTC 0.652 13 21 --- --- --- --- PASS PSG11 5680 broad.mit.edu 37 19 43523115 43523115 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr19:43523115C>G uc002ovm.1 - 3 623 c.516G>C c.(514-516)GAG>GAC p.E172D PSG11_uc002ouw.2_Missense_Mutation_p.E178D|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Missense_Mutation_p.E178D|PSG11_uc002ovn.1_Missense_Mutation_p.E178D|PSG11_uc002ovo.1_Missense_Mutation_p.E50D|PSG11_uc002ovp.1_Missense_Mutation_p.E50D NM_002785 NP_002776 Q9UQ72 PSG11_HUMAN pregnancy specific beta-1-glycoprotein 11 172 Ig-like C2-type 1. female pregnancy extracellular region 0 Prostate(69;0.00682) CGTCCGGAGTCTCAGGATTAC 0.517 90 375 --- --- --- --- PASS KLK5 25818 broad.mit.edu 37 19 51453310 51453310 + Missense_Mutation SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr19:51453310T>A uc002pue.2 - 4 354 c.136A>T c.(136-138)AGC>TGC p.S46C KLK5_uc002puf.2_Missense_Mutation_p.S46C|KLK5_uc002pug.2_Missense_Mutation_p.S46C NM_001077491 NP_001070959 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 preproprotein 46 Missing (in Ref. 3; AAG33358). epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) TCCTGGTTGCTCCCAGAGGGC 0.617 6 22 --- --- --- --- PASS SIGLEC8 27181 broad.mit.edu 37 19 51958757 51958757 + Missense_Mutation SNP A T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr19:51958757A>T uc002pwt.2 - 4 1033 c.966T>A c.(964-966)GAT>GAA p.D322E SIGLEC8_uc010yda.1_Missense_Mutation_p.D213E|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.D229E NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 322 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) ATTCCCCTTCATCCCTCACGT 0.652 12 24 --- --- --- --- PASS EPS8L1 54869 broad.mit.edu 37 19 55592768 55592768 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr19:55592768C>G uc002qis.3 + 8 786 c.682C>G c.(682-684)CCG>GCG p.P228A EPS8L1_uc010ess.1_Missense_Mutation_p.P210A|EPS8L1_uc010est.1_Missense_Mutation_p.P228A|EPS8L1_uc010yfr.1_Missense_Mutation_p.P164A|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.P101A|EPS8L1_uc002qiv.2_5'Flank|EPS8L1_uc002qiw.2_5'Flank NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 228 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) GAGGCCTGAGCCGGTGGGGAC 0.726 4 7 --- --- --- --- PASS C20orf71 128861 broad.mit.edu 37 20 31814274 31814274 + Missense_Mutation SNP T A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr20:31814274T>A uc002wyr.2 + 5 807 c.599T>A c.(598-600)CTC>CAC p.L200H C20orf71_uc002wys.2_Missense_Mutation_p.L164H NM_178466 NP_848561 Q9BQP9 SPLC3_HUMAN short long palate, lung and nasal epithelium 200 extracellular region lipid binding ovary(1)|skin(1) 2 CAAAAAGTTCTCCCACACATG 0.408 50 125 --- --- --- --- PASS PPP1R16B 26051 broad.mit.edu 37 20 37531333 37531333 + Silent SNP C T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr20:37531333C>T uc002xje.2 + 6 783 c.594C>T c.(592-594)AAC>AAT p.N198N PPP1R16B_uc010ggc.2_Silent_p.N198N NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 198 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AGAAAATCAACGAGATGCGGG 0.587 93 122 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51870996 51870996 + Silent SNP C T T rs138194448 TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr20:51870996C>T uc002xwo.2 + 2 1955 c.999C>T c.(997-999)CCC>CCT p.P333P NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 333 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CGTGTTCCCCCGATTCAACCA 0.483 166 158 --- --- --- --- PASS LZTR1 8216 broad.mit.edu 37 22 21337317 21337317 + Missense_Mutation SNP C G G TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr22:21337317C>G uc002zto.2 + 2 305 c.202C>G c.(202-204)CGC>GGC p.R68G LZTR1_uc002ztn.2_Missense_Mutation_p.R27G|LZTR1_uc011ahy.1_Missense_Mutation_p.R68G NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 68 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TCTTTCCAGGCGCAGCAAGCA 0.542 22 90 --- --- --- --- PASS SEZ6L 23544 broad.mit.edu 37 22 26695130 26695130 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr22:26695130G>A uc003acb.2 + 5 1499 c.1343G>A c.(1342-1344)TGC>TAC p.C448Y SEZ6L_uc003acc.2_Missense_Mutation_p.C448Y|SEZ6L_uc011akc.1_Missense_Mutation_p.C448Y|SEZ6L_uc003acd.2_Missense_Mutation_p.C448Y|SEZ6L_uc011akd.1_Missense_Mutation_p.C448Y|SEZ6L_uc003ace.2_Missense_Mutation_p.C448Y|SEZ6L_uc003acf.1_Missense_Mutation_p.C221Y|SEZ6L_uc010gvc.1_Missense_Mutation_p.C221Y NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 448 Sushi 1.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 GAGCCCATCTGCTCAGGTATG 0.582 3 6 --- --- --- --- PASS THOC5 8563 broad.mit.edu 37 22 29924107 29924107 + Missense_Mutation SNP C A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr22:29924107C>A uc003afr.2 - 12 1361 c.1026G>T c.(1024-1026)AAG>AAT p.K342N THOC5_uc003afq.2_Missense_Mutation_p.K3N|THOC5_uc003afs.2_Missense_Mutation_p.K342N|THOC5_uc003aft.2_Missense_Mutation_p.K342N|THOC5_uc003afu.2_Missense_Mutation_p.K342N|THOC5_uc010gvo.2_Missense_Mutation_p.K86N NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 342 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 GTGGGTGCCTCTTCAGCATCT 0.527 37 104 --- --- --- --- PASS SOX10 6663 broad.mit.edu 37 22 38369863 38369863 + Missense_Mutation SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr22:38369863G>A uc003aun.1 - 4 1318 c.1040C>T c.(1039-1041)CCA>CTA p.P347L POLR2F_uc003aum.2_Intron|SOX10_uc003auo.1_Missense_Mutation_p.P347L NM_006941 NP_008872 P56693 SOX10_HUMAN SRY (sex determining region Y)-box 10 347 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity 0 Melanoma(58;0.045) CACACCAGGTGGTGAGACCGT 0.672 11 55 --- --- --- --- PASS KLHL34 257240 broad.mit.edu 37 X 21675151 21675151 + Silent SNP G A A TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chrX:21675151G>A uc004czz.1 - 1 1298 c.756C>T c.(754-756)ATC>ATT p.I252I NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 252 ovary(1) 1 GGGCCTGGATGATGAGGCCCT 0.687 7 9 --- --- --- --- PASS PRRG1 5638 broad.mit.edu 37 X 37312768 37312768 + Missense_Mutation SNP G C C TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chrX:37312768G>C uc004ddn.2 + 5 804 c.551G>C c.(550-552)AGT>ACT p.S184T PRRG1_uc004ddo.2_Missense_Mutation_p.S184T NM_000950 NP_000941 O14668 TMG1_HUMAN proline rich Gla (G-carboxyglutamic acid) 1 184 Cytoplasmic (Potential). extracellular region|integral to plasma membrane calcium ion binding ovary(1)|breast(1) 2 CTGCAGAGGAGTGAAACAGAA 0.532 14 35 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685455 125685455 + Silent SNP G C C rs149056465 byFrequency TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chrX:125685455G>C uc004eul.2 - 1 1388 c.1137C>G c.(1135-1137)GCC>GCG p.A379A NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 379 WD 4. skin(3)|ovary(1) 4 GGAATTTCTGGGCCCGGACGT 0.632 24 46 --- --- --- --- PASS GAS5 60674 broad.mit.edu 37 1 173836247 173836248 + RNA INS - A A rs145452199 by1000genomes TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr1:173836247_173836248insA uc001gji.2 - 1 c.1_2insT GAS5_uc001gjj.2_Intron|GAS5_uc001gjk.2_Intron|SNORD81_uc009wwi.1_5'Flank|SNORD47_uc001gjl.2_5'Flank|SNORD80_uc009wwj.1_5'Flank|SNORD79_uc009wwk.1_5'Flank|SNORD78_uc009wwl.2_5'Flank|SNORD44_uc001gjn.1_5'Flank|SNORD77_uc009wwm.1_5'Flank|SNORD76_uc009wwn.1_5'Flank|SNORD75_uc009wwo.1_5'Flank|ZBTB37_uc001gjp.1_5'Flank|ZBTB37_uc001gjq.3_5'Flank|ZBTB37_uc009wwp.1_5'Flank|ZBTB37_uc001gjr.2_5'Flank Homo sapiens mRNA; cDNA DKFZp564D0164 (from clone DKFZp564D0164). 0 GAGTGTTCTTTAAAAAAACGGT 0.381 7 4 --- --- --- --- GRM7 2917 broad.mit.edu 37 3 7620360 7620361 + Frame_Shift_Ins INS - T T TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr3:7620360_7620361insT uc003bqm.2 + 8 2041_2042 c.1767_1768insT c.(1765-1770)CCCTGGfs p.P589fs GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Frame_Shift_Ins_p.P589fs|GRM7_uc003bql.2_Frame_Shift_Ins_p.P589fs|GRM7_uc003bqn.1_Frame_Shift_Ins_p.P172fs|GRM7_uc010hch.1_Frame_Shift_Ins_p.P100fs NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 589_590 Extracellular (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) GGCACTCCCCCTGGGCTGTGAT 0.530 83 37 --- --- --- --- TAS2R40 259286 broad.mit.edu 37 7 142919990 142919990 + Frame_Shift_Del DEL T - - TCGA-66-2780-01A-01D-1522-08 TCGA-66-2780-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx d088bd17-a1a0-4bd9-bfe1-d57b5725c53b 2ceee15a-1eca-47f3-8c33-6daeaf8fca69 g.chr7:142919990delT uc011ksx.1 + 1 819 c.819delT c.(817-819)ACTfs p.T273fs NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 273 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) TCTTTGACACTTACAGTTCCT 0.478 213 99 --- --- --- ---