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 TNFRSF8 943 broad.mit.edu 37 1 12172031 12172031 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:12172031C>T uc001atq.2 + 7 975 c.753C>T c.(751-753)GAC>GAT p.D251D TNFRSF8_uc010obc.1_Silent_p.D140D NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 251 TNFR-Cys 5.|Extracellular (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) ACTACCTGGACGAGGCCGGCC 0.602 NT5C1A 84618 broad.mit.edu 37 1 40131873 40131873 + Silent SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:40131873G>A uc001cdq.1 - 2 171 c.171C>T c.(169-171)TCC>TCT p.S57S NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 57 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGGCTCGGGAGGACACAGCGA 0.582 MSH4 4438 broad.mit.edu 37 1 76272802 76272802 + Silent SNP T C C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:76272802T>C uc001dhd.1 + 3 605 c.564T>C c.(562-564)TTT>TTC p.F188F NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 188 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 TATCCCAGTTTGCAGACAACA 0.373 MMR ELTD1 64123 broad.mit.edu 37 1 79392712 79392712 + Missense_Mutation SNP G T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:79392712G>T uc001diq.3 - 8 1098 c.942C>A c.(940-942)AAC>AAA p.N314K NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 314 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TCAATAAGAAGTTGTCAGATG 0.318 CCDC76 54482 broad.mit.edu 37 1 100602642 100602643 + Splice_Site INS - T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:100602642_100602643insT uc001dsv.2 + 3 280 c.261_splice c.e3+1 p.P87_splice CCDC76_uc010ouf.1_Splice_Site|CCDC76_uc009wea.2_Splice_Site_p.P87_splice NM_019083 NP_061956 Q9NUP7 TRM13_HUMAN coiled-coil domain containing 76 tRNA processing metal ion binding|methyltransferase activity ovary(1) 1 all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194) ACCAAAACCTGTAAGTGTTTGA 0.238 KCND3 3752 broad.mit.edu 37 1 112524445 112524445 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:112524445G>A uc001ebu.1 - 2 1384 c.904C>T c.(904-906)CGC>TGC p.R302C KCND3_uc001ebv.1_Missense_Mutation_p.R302C NM_004980 NP_004971 Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related 302 Helical; Voltage-sensor; Name=Segment S4; (Potential). sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding ovary(2)|large_intestine(1) 3 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TGGGAGTGGCGGGAAAACTTG 0.582 LOC645166 645166 broad.mit.edu 37 1 148933289 148933289 + Splice_Site SNP A G G rs9729175 by1000genomes TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:148933289A>G uc010pbc.1 + 3 c.236_splice c.e3-2 LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site NR_027355 Homo sapiens cDNA, FLJ18771. 0 TGCTGCCCGCAGGATATTGTG 0.562 FLG 2312 broad.mit.edu 37 1 152283656 152283656 + Missense_Mutation SNP G A A rs144184134 byFrequency TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:152283656G>A uc001ezu.1 - 3 3742 c.3706C>T c.(3706-3708)CGT>TGT p.R1236C uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1236 Ser-rich.|Filaggrin 7. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCATGGTGACGTGACCCTGAG 0.562 Ichthyosis FLG2 388698 broad.mit.edu 37 1 152328935 152328935 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:152328935C>T uc001ezw.3 - 3 1400 c.1327G>A c.(1327-1329)GAA>AAA p.E443K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 443 Filaggrin 2.|Ser-rich. calcium ion binding|structural molecule activity p.E443V(1) ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACATGTTGTTCGAACCCAGAG 0.448 SMCP 4184 broad.mit.edu 37 1 152857174 152857174 + Silent SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:152857174G>A uc001fat.2 + 2 421 c.276G>A c.(274-276)CCG>CCA p.P92P NM_030663 NP_109588 P49901 MCSP_HUMAN sperm mitochondria-associated cysteine-rich 92 penetration of zona pellucida|sperm motility mitochondrial membrane 0 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAACTCACCGCAAACTCAGG 0.537 USH2A 7399 broad.mit.edu 37 1 215799138 215799138 + Silent SNP T C C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:215799138T>C uc001hku.1 - 72 15981 c.15594A>G c.(15592-15594)ACA>ACG p.T5198T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 5198 Cytoplasmic (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGTGGGTGTCTGTGAATGTGG 0.463 HNSCC(13;0.011) RYR2 6262 broad.mit.edu 37 1 237806746 237806746 + Missense_Mutation SNP A T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr1:237806746A>T uc001hyl.1 + 48 7461 c.7341A>T c.(7339-7341)AAA>AAT p.K2447N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2447 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAATAGCCAAAGGTAAGGCCA 0.438 PCDH15 65217 broad.mit.edu 37 10 55944974 55944974 + Missense_Mutation SNP C T T rs61735473 byFrequency TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr10:55944974C>T uc001jju.1 - 12 1755 c.1360G>A c.(1360-1362)GTC>ATC p.V454I PCDH15_uc010qhq.1_Missense_Mutation_p.V459I|PCDH15_uc010qhr.1_Missense_Mutation_p.V454I|PCDH15_uc010qhs.1_Missense_Mutation_p.V466I|PCDH15_uc010qht.1_Missense_Mutation_p.V461I|PCDH15_uc010qhu.1_Missense_Mutation_p.V454I|PCDH15_uc001jjv.1_Missense_Mutation_p.V432I|PCDH15_uc010qhv.1_Missense_Mutation_p.V454I|PCDH15_uc010qhw.1_Missense_Mutation_p.V417I|PCDH15_uc010qhx.1_Missense_Mutation_p.V454I|PCDH15_uc010qhy.1_Missense_Mutation_p.V459I|PCDH15_uc010qhz.1_Missense_Mutation_p.V454I|PCDH15_uc010qia.1_Missense_Mutation_p.V432I|PCDH15_uc010qib.1_Missense_Mutation_p.V432I|PCDH15_uc001jjw.2_Missense_Mutation_p.V454I NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 454 Cadherin 4.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.V454I(1) pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GTCTGTGTGACGGTGAAGACT 0.393 HNSCC(58;0.16) C10orf79 80217 broad.mit.edu 37 10 105928529 105928529 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr10:105928529C>T uc001kxw.2 - 21 2780 c.2664G>A c.(2662-2664)TCG>TCA p.S888S C10orf79_uc009xxq.2_Silent_p.S196S|C10orf79_uc001kxx.3_Silent_p.S889S NM_025145 NP_079421 Q8NDM7 WDR96_HUMAN hypothetical protein LOC80217 888 0 Colorectal(252;0.178) Epithelial(162;4.83e-10)|all cancers(201;2.26e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0194) TCACAGCCATCGAATTCCAAC 0.373 ADRB1 153 broad.mit.edu 37 10 115804336 115804336 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr10:115804336C>T uc001lba.2 + 1 531 c.445C>T c.(445-447)CTG>TTG p.L149L NM_000684 NP_000675 P08588 ADRB1_HUMAN beta-1-adrenergic receptor 149 Helical; Name=3; (By similarity). positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) CATCGAGACCCTGTGTGTCAT 0.577 CD6 923 broad.mit.edu 37 11 60780934 60780934 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr11:60780934G>A uc001nqq.2 + 7 1413 c.1190G>A c.(1189-1191)CGG>CAG p.R397Q CD6_uc009yni.2_Missense_Mutation_p.R296Q|CD6_uc009ynj.2_Missense_Mutation_p.R274Q|CD6_uc001nqp.2_Missense_Mutation_p.R397Q|CD6_uc001nqr.2_Missense_Mutation_p.R397Q|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Missense_Mutation_p.R397Q NM_006725 NP_006716 P30203 CD6_HUMAN CD6 molecule precursor 397 Extracellular (Potential). cell adhesion cell surface|integral to plasma membrane scavenger receptor activity pancreas(1) 1 AAGGAATCTCGGGAGCTAATG 0.443 PPP2R5B 5526 broad.mit.edu 37 11 64695622 64695622 + Missense_Mutation SNP G T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr11:64695622G>T uc001oby.2 + 5 1168 c.583G>T c.(583-585)GTC>TTC p.V195F PPP2R5B_uc001obz.2_Missense_Mutation_p.V195F NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 195 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 TCAAAAGTTTGTCCTGATGGT 0.582 SNX32 254122 broad.mit.edu 37 11 65617743 65617744 + Splice_Site INS - T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr11:65617743_65617744insT uc001ofr.2 + 4 501 c.374_splice c.e4+1 p.A125_splice SNX32_uc010rop.1_3'UTR NM_152760 NP_689973 Q86XE0 SNX32_HUMAN sorting nexin 6B cell communication|protein transport phosphatidylinositol binding 0 READ - Rectum adenocarcinoma(159;0.171) AGCTGGAAGCGTGAGTGCCCCC 0.554 CABP4 57010 broad.mit.edu 37 11 67222962 67222962 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr11:67222962C>T uc001olo.2 + 1 145 c.68C>T c.(67-69)GCG>GTG p.A23V GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 23 visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AAGCCCCCTGCGGGGGTTGTG 0.632 AMOTL1 154810 broad.mit.edu 37 11 94554698 94554698 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr11:94554698G>A uc001pfb.2 + 4 1294 c.1124G>A c.(1123-1125)CGC>CAC p.R375H AMOTL1_uc001pfc.2_Missense_Mutation_p.R325H NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 375 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCTTGCAGCCGCCCATGCCAA 0.602 IL26 55801 broad.mit.edu 37 12 68619233 68619233 + Missense_Mutation SNP C G G TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr12:68619233C>G uc001stx.1 - 2 254 c.219G>C c.(217-219)AAG>AAC p.K73N NM_018402 NP_060872 Q9NPH9 IL26_HUMAN interleukin 26 precursor 73 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) CCATAAACTGCTTTTTTGTTT 0.274 RCBTB1 55213 broad.mit.edu 37 13 50140816 50140816 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr13:50140816C>T uc001vde.1 - 4 476 c.215G>A c.(214-216)TGT>TAT p.C72Y NM_018191 NP_060661 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and 72 RCC1 1. cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(1) 1 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) CTTCTTTCCACATAAGCCTTC 0.408 ABCC4 10257 broad.mit.edu 37 13 95715080 95715080 + Missense_Mutation SNP T C C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr13:95715080T>C uc001vmd.3 - 26 3363 c.3244A>G c.(3244-3246)AGT>GGT p.S1082G ABCC4_uc010afj.2_5'UTR|ABCC4_uc010afk.2_Missense_Mutation_p.S1035G NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 1082 ABC transporter 2.|ATP 2 (Potential). platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) ATGAGGGAACTTTTTCCAGCT 0.398 P704P 641455 broad.mit.edu 37 14 20010235 20010235 + Missense_Mutation SNP A G G TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr14:20010235A>G uc001vwc.3 - 5 975 c.923T>C c.(922-924)GTT>GCT p.V308A P704P_uc001vwb.3_RNA|uc001vwd.2_RNA NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN prostate-specific P704P 308 ANK 5. 0 AAGTATGAGAACAGTTCTAAA 0.368 RYR3 6263 broad.mit.edu 37 15 33873724 33873724 + Missense_Mutation SNP G T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr15:33873724G>T uc001zhi.2 + 14 1523 c.1453G>T c.(1453-1455)GTC>TTC p.V485F RYR3_uc010bar.2_Missense_Mutation_p.V485F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 485 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GTTGGCCCTTGTCTTAAATTG 0.438 SLTM 79811 broad.mit.edu 37 15 59181723 59181723 + Missense_Mutation SNP G C C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr15:59181723G>C uc002afp.2 - 16 2198 c.2110C>G c.(2110-2112)CGA>GGA p.R704G SLTM_uc002afn.2_Missense_Mutation_p.R246G|SLTM_uc002afo.2_Missense_Mutation_p.R686G|SLTM_uc002afq.2_Missense_Mutation_p.R273G|SLTM_uc010bgd.2_Missense_Mutation_p.R273G NM_024755 NP_079031 Q9NWH9 SLTM_HUMAN modulator of estrogen induced transcription 704 Arg/Glu-rich.|Potential. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1) 1 TCTCTTTCTCGAGCAATCCGT 0.413 CYP1A2 1544 broad.mit.edu 37 15 75042328 75042328 + Silent SNP G A A rs17861153 byFrequency TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr15:75042328G>A uc002ayr.1 + 2 313 c.249G>A c.(247-249)ACG>ACA p.T83T NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 83 T -> M (in allele CYP1A2*9). alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TTGGCTCCACGCCCGTGCTGG 0.667 IL4R 3566 broad.mit.edu 37 16 27374339 27374339 + Nonsense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr16:27374339C>T uc002don.2 + 11 1908 c.1666C>T c.(1666-1668)CGA>TGA p.R556* IL4R_uc002dop.3_Nonsense_Mutation_p.R541*|IL4R_uc010bxy.2_Nonsense_Mutation_p.R556*|IL4R_uc002doo.2_Nonsense_Mutation_p.R396* NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 556 Cytoplasmic (Potential).|Required for IRS1 activation and IL4- induced cell growth. immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 GATCCTCCGCCGAAATGTCCT 0.637 IRX6 79190 broad.mit.edu 37 16 55361572 55361572 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr16:55361572C>T uc002ehy.2 + 4 1021 c.488C>T c.(487-489)GCC>GTC p.A163V IRX6_uc002ehx.2_Missense_Mutation_p.A163V|IRX6_uc010ccb.1_RNA NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 163 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 ACACTCAAGGCCTGGCTCAAC 0.592 SOX9 6662 broad.mit.edu 37 17 70118954 70118954 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr17:70118954C>T uc002jiw.2 + 2 898 c.526C>T c.(526-528)CCG>TCG p.P176S uc002jiv.2_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 176 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) CAAGTACCAGCCGCGGCGGAG 0.652 OTOP3 347741 broad.mit.edu 37 17 72943010 72943010 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr17:72943010G>A uc010wrr.1 + 6 1060 c.1060G>A c.(1060-1062)GTC>ATC p.V354I OTOP3_uc010wrq.1_Missense_Mutation_p.V336I NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 354 Helical; (Potential). integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) AGGTGTGTGCGTCTTTGTGCT 0.627 EPB41L3 23136 broad.mit.edu 37 18 5395093 5395093 + Silent SNP C A A rs144676596 TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr18:5395093C>A uc002kmt.1 - 21 3212 c.3126G>T c.(3124-3126)ACG>ACT p.T1042T EPB41L3_uc010wzh.1_Silent_p.T873T|EPB41L3_uc002kmu.1_Silent_p.T820T|EPB41L3_uc010dkq.1_Silent_p.T711T|EPB41L3_uc002kms.1_Silent_p.T277T|EPB41L3_uc010wze.1_Silent_p.T347T|EPB41L3_uc010wzf.1_Silent_p.T339T|EPB41L3_uc010wzg.1_Silent_p.T314T|EPB41L3_uc010dkr.2_Silent_p.T434T NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1042 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTGCATCCCCCGTGATGACTA 0.448 FBXO15 201456 broad.mit.edu 37 18 71791770 71791770 + Missense_Mutation SNP G C C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr18:71791770G>C uc002lle.2 - 7 1057 c.721C>G c.(721-723)CAT>GAT p.H241D FBXO15_uc002llf.2_Missense_Mutation_p.H317D NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 241 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TGATGAAAATGAAGATTTGCC 0.328 FUT5 2527 broad.mit.edu 37 19 5867028 5867028 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:5867028G>A uc002mdo.3 - 2 797 c.709C>T c.(709-711)CGC>TGC p.R237C FUT5_uc010duo.2_Missense_Mutation_p.R237C NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 237 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 TTGTGGGAGCGTCCGTACACG 0.622 MUC16 94025 broad.mit.edu 37 19 9091524 9091524 + Silent SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:9091524G>A uc002mkp.2 - 1 495 c.291C>T c.(289-291)TCC>TCT p.S97S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 97 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 TTCTTTGCTCGGAGTGTGTCA 0.537 ZNF833 401898 broad.mit.edu 37 19 11796063 11796063 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:11796063G>A uc010dyg.2 + 3 684 c.22G>A c.(22-24)GAA>AAA p.E8K ZNF833_uc002msl.3_RNA NM_001013691 NP_001013713 zinc finger protein 833 0 CAGTGAAGATGAACCTTATAA 0.353 LYPD4 147719 broad.mit.edu 37 19 42342222 42342222 + Missense_Mutation SNP C T T rs142442476 byFrequency TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:42342222C>T uc002orp.1 - 4 1309 c.325G>A c.(325-327)GTC>ATC p.V109I LYPD4_uc002orq.1_Missense_Mutation_p.V74I NM_173506 NP_775777 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 precursor 109 anchored to membrane|plasma membrane ovary(1) 1 GACCGGCAGACGCGACTGTAG 0.522 PSG2 5670 broad.mit.edu 37 19 43576027 43576027 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:43576027C>T uc002ovr.2 - 4 882 c.789G>A c.(787-789)GCG>GCA p.A263A PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Silent_p.A263A|PSG2_uc010eiq.1_Silent_p.A263A|PSG2_uc002ovs.3_Silent_p.A263A|PSG2_uc002ovt.3_Silent_p.A263A NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 263 Ig-like C2-type 2. cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) GGTTAGAGTTCGCGAAGCAAG 0.443 PSG4 5672 broad.mit.edu 37 19 43708378 43708378 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:43708378C>T uc002ovy.2 - 2 192 c.90G>A c.(88-90)CCG>CCA p.P30P PSG4_uc002owa.2_RNA|PSG4_uc002owb.2_Silent_p.P30P|PSG4_uc002ovz.2_Silent_p.P30P NM_002780 NP_002771 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 isoform 30 defense response|female pregnancy extracellular region ovary(1) 1 Prostate(69;0.00682) CAGTTGTGGGCGGATTCCAGA 0.468 NLRP4 147945 broad.mit.edu 37 19 56370207 56370207 + Nonsense_Mutation SNP T A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:56370207T>A uc002qmd.3 + 3 1870 c.1448T>A c.(1447-1449)TTG>TAG p.L483* NLRP4_uc002qmf.2_Nonsense_Mutation_p.L408*|NLRP4_uc010etf.2_Nonsense_Mutation_p.L314* NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 483 ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GTACAGGAATTGCTAGTTGCC 0.423 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 RAD51AP2 729475 broad.mit.edu 37 2 17692095 17692095 + Silent SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr2:17692095G>A uc002rcl.1 - 3 3480 c.3456C>T c.(3454-3456)TAC>TAT p.Y1152Y RAD51AP2_uc010exn.1_Silent_p.Y1143Y NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 1152 Interaction with RAD51. ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TTAAGTTTCCGTAACACATTT 0.338 TMEM17 200728 broad.mit.edu 37 2 62728426 62728426 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr2:62728426C>T uc002sbt.2 - 4 855 c.515G>A c.(514-516)CGT>CAT p.R172H TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR NM_198276 NP_938017 Q86X19 TMM17_HUMAN transmembrane protein 17 172 integral to membrane 0 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) GAGGTGGAAACGAACTGCCAA 0.423 TGFA 7039 broad.mit.edu 37 2 70683568 70683568 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr2:70683568C>T uc002sgs.3 - 4 474 c.268G>A c.(268-270)GTG>ATG p.V90M TGFA_uc010fdq.2_Missense_Mutation_p.V96M|TGFA_uc010fdr.2_Missense_Mutation_p.V95M|TGFA_uc002sgt.3_Missense_Mutation_p.V89M|TGFA_uc002sgu.2_Missense_Mutation_p.V89M|TGFA_uc002sgv.2_Missense_Mutation_p.V90M|TGFA_uc002sgw.2_Missense_Mutation_p.V89M NM_003236 NP_003227 P01135 TGFA_HUMAN transforming growth factor, alpha isoform 1 90 Extracellular (Potential). activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis cell surface|extracellular space|integral to membrane|plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity p.V90M(1) prostate(1) 1 GCAGCCACCACGGCCAGGAGG 0.577 RGPD3 653489 broad.mit.edu 37 2 107040566 107040566 + Missense_Mutation SNP T A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr2:107040566T>A uc010ywi.1 - 20 3914 c.3857A>T c.(3856-3858)GAT>GTT p.D1286V NM_001144013 NP_001137485 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1286 intracellular transport binding ovary(1) 1 TGTTGACTCATCAAAGTGGAA 0.408 JAG1 182 broad.mit.edu 37 20 10644609 10644612 + Splice_Site DEL ACGA - - TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr20:10644609_10644612delACGA uc002wnw.2 - 3 955 c.439_splice c.e3+1 p.Q147_splice NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 AGCGATACTTACGAACGGTGTCAT 0.466 Alagille_Syndrome RALGAPA2 57186 broad.mit.edu 37 20 20493785 20493785 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr20:20493785G>A uc002wrz.2 - 32 4371 c.4228C>T c.(4228-4230)CAT>TAT p.H1410Y RALGAPA2_uc010gcx.2_Missense_Mutation_p.H1114Y|RALGAPA2_uc010zsg.1_Missense_Mutation_p.H858Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.H182Y NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1410 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 CCTTCCACATGGGCATTGTCA 0.547 MYH7B 57644 broad.mit.edu 37 20 33584258 33584258 + Missense_Mutation SNP A G G TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr20:33584258A>G uc002xbi.1 + 27 3271 c.3179A>G c.(3178-3180)CAG>CGG p.Q1060R NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 1018 Potential. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) GGTGACCTGCAGGCCGAGGAG 0.672 Unknown 0 broad.mit.edu 37 20 56063608 56063609 + Frame_Shift_Del DEL AT - - TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr20:56063608_56063609delAT uc010zzl.1 - 1 475_476 c.475_476delAT c.(475-477)ATTfs p.I159fs NM_001008735 NP_001008735 high-mobility group box 1-like 1 ATATGCAGCAATATCCTTTTCG 0.371 NPBWR2 2832 broad.mit.edu 37 20 62737704 62737704 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr20:62737704G>A uc011abt.1 - 1 481 c.481C>T c.(481-483)CGG>TGG p.R161W NM_005286 NP_005277 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 161 Cytoplasmic (Potential). plasma membrane opioid receptor activity|protein binding large_intestine(1) 1 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) TTCGCCCCCCGGTAGGTGCGC 0.632 MME 4311 broad.mit.edu 37 3 154832945 154832945 + Splice_Site SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr3:154832945G>A uc010hvr.1 + 4 569 c.358_splice c.e4+1 p.D120_splice MME_uc003fab.1_Splice_Site_p.D120_splice|MME_uc003fac.1_Splice_Site_p.D120_splice|MME_uc003fad.1_Splice_Site_p.D120_splice|MME_uc003fae.1_Splice_Site_p.D120_splice NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GTTTTGAAAGGTTAGTAGAGA 0.378 PLD1 5337 broad.mit.edu 37 3 171330189 171330189 + Missense_Mutation SNP C G G TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr3:171330189C>G uc003fhs.2 - 25 2878 c.2762G>C c.(2761-2763)GGA>GCA p.G921A PLD1_uc003fht.2_Missense_Mutation_p.G883A|PLD1_uc003fhu.3_Missense_Mutation_p.G215A NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 921 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GTCACGCTTTCCCAGCATGCT 0.423 LPHN3 23284 broad.mit.edu 37 4 62452954 62452954 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr4:62452954G>A uc010ihh.2 + 2 238 c.65G>A c.(64-66)CGT>CAT p.R22H LPHN3_uc003hcq.3_Missense_Mutation_p.R22H|LPHN3_uc010ihg.1_Missense_Mutation_p.R90H NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 22 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GCTTTCAGCCGTGCCCCAATT 0.453 CXCL1 2919 broad.mit.edu 37 4 74735288 74735288 + Splice_Site SNP G T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr4:74735288G>T uc003hhh.1 + 1 179 c.100_splice c.e1+1 p.G34_splice NM_001511 NP_001502 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CGCGCAGCAGGTGGGTACCGG 0.726 EPGN 255324 broad.mit.edu 37 4 75174232 75174232 + Translation_Start_Site SNP A T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr4:75174232A>T uc003hic.1 + 1 29 c.-18A>T c.(-20--16)AAAGT>AATGT uc003hhv.1_Intron|EPGN_uc003hhw.2_Translation_Start_Site|EPGN_uc003hhx.1_RNA|EPGN_uc003hhy.1_Translation_Start_Site|EPGN_uc003hhz.1_Translation_Start_Site|EPGN_uc010iin.1_Translation_Start_Site|EPGN_uc003hia.1_Translation_Start_Site|EPGN_uc003hib.1_Translation_Start_Site Q6UW88 EPGN_HUMAN SubName: Full=cDNA FLJ75542; activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis extracellular region|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity 0 Lung(101;0.196) AGAGAAAGAAAGTTAAGCAAC 0.363 PDHA2 5161 broad.mit.edu 37 4 96761394 96761394 + Silent SNP C T T rs143281239 TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr4:96761394C>T uc003htr.3 + 1 156 c.93C>T c.(91-93)GAC>GAT p.D31D NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 31 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) CCTCAAATGACGCTACATTTG 0.502 PRMT10 90826 broad.mit.edu 37 4 148591889 148591889 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr4:148591889G>A uc003ilc.2 - 5 891 c.749C>T c.(748-750)TCC>TTC p.S250F PRMT10_uc003ild.2_Missense_Mutation_p.S137F NM_138364 NP_612373 Q6P2P2 ANM10_HUMAN protein arginine methyltransferase 10 250 cytoplasm binding|protein methyltransferase activity ovary(1)|central_nervous_system(1) 2 TACAACTAGGGACACTCTATA 0.328 PIK3R1 5295 broad.mit.edu 37 5 67592121 67592121 + Missense_Mutation SNP T C C TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr5:67592121T>C uc003jva.2 + 15 2497 c.1937T>C c.(1936-1938)TTT>TCT p.F646S PIK3R1_uc003jvb.2_Missense_Mutation_p.F646S|PIK3R1_uc003jvc.2_Missense_Mutation_p.F346S|PIK3R1_uc003jvd.2_Missense_Mutation_p.F376S|PIK3R1_uc003jve.2_Missense_Mutation_p.F325S NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 646 SH2 2. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.?(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) GATGGCACTTTTCTTGTCCGG 0.453 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) LNPEP 4012 broad.mit.edu 37 5 96320900 96320900 + Missense_Mutation SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr5:96320900C>T uc003kmv.1 + 3 1491 c.977C>T c.(976-978)ACC>ATC p.T326I LNPEP_uc003kmw.1_Missense_Mutation_p.T312I NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 326 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GAGCAATACACCGCTTTATCA 0.378 FAT2 2196 broad.mit.edu 37 5 150925630 150925630 + Silent SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr5:150925630G>A uc003lue.3 - 9 5071 c.5058C>T c.(5056-5058)AGC>AGT p.S1686S GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1686 Cadherin 15.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTCAGAGGGGCTCATAGCAG 0.443 ENPP4 22875 broad.mit.edu 37 6 46107513 46107513 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr6:46107513G>A uc003oxy.2 + 2 452 c.193G>A c.(193-195)GTT>ATT p.V65I NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 65 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 TGTTAAAAATGTTTTTATCAC 0.363 KIF25 3834 broad.mit.edu 37 6 168443353 168443353 + Silent SNP G A A rs147561163 TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr6:168443353G>A uc003qwk.1 + 8 1204 c.942G>A c.(940-942)CCG>CCA p.P314P KIF25_uc003qwl.1_Intron NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 314 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCCATGCCCCGTACCGGAACA 0.652 SDK1 221935 broad.mit.edu 37 7 4153898 4153898 + Missense_Mutation SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr7:4153898G>A uc003smx.2 + 25 3954 c.3815G>A c.(3814-3816)CGG>CAG p.R1272Q SDK1_uc010kso.2_Missense_Mutation_p.R548Q NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1272 cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGCCGGACGCGGGAGTCAGGT 0.652 HGF 3082 broad.mit.edu 37 7 81386513 81386513 + Silent SNP G A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr7:81386513G>A uc003uhl.2 - 4 639 c.474C>T c.(472-474)CAC>CAT p.H158H HGF_uc003uhm.2_Silent_p.H158H|HGF_uc003uhn.1_Silent_p.H158H|HGF_uc003uho.1_Silent_p.H158H|HGF_uc003uhp.2_Silent_p.H158H NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 158 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 ACCTGTGTTCGTGTGGTATCA 0.393 SAMD12 401474 broad.mit.edu 37 8 119452171 119452171 + Silent SNP C G G TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr8:119452171C>G uc003yom.2 - 3 351 c.222G>C c.(220-222)GTG>GTC p.V74V SAMD12_uc010mda.1_Silent_p.V74V|SAMD12_uc010mdb.1_RNA NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 isoform 74 ovary(1) 1 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) TCCATAGAGCCACCGGTTTAG 0.428 CELP 1057 broad.mit.edu 37 9 135961717 135961717 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chr9:135961717C>T uc011mcu.1 + 4 552 c.459C>T c.(457-459)GCC>GCT p.A153A NR_001275 Homo sapiens cDNA FLJ25862 fis, clone CBR01781. 0 GGGTGGGGGCCGACCATAGAG 0.602 WWC3 55841 broad.mit.edu 37 X 10106937 10106937 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chrX:10106937C>T uc004csx.3 + 21 3243 c.3045C>T c.(3043-3045)GAC>GAT p.D1015D WWC3_uc010nds.2_Silent_p.D679D|WWC3_uc010ndt.2_RNA NM_015691 NP_056506 Q9ULE0 WWC3_HUMAN WWC family member 3 1015 Potential. ovary(4) 4 TGCTTCGGGACGAGCGGCTCC 0.711 MAGED2 10916 broad.mit.edu 37 X 54841851 54841851 + Silent SNP C T T TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chrX:54841851C>T uc004dtk.1 + 12 1651 c.1557C>T c.(1555-1557)GAC>GAT p.D519D MAGED2_uc004dtl.1_Silent_p.D519D|MAGED2_uc004dtm.1_Silent_p.D434D|MAGED2_uc010nkc.1_Intron|MAGED2_uc004dtn.1_Silent_p.D519D|MAGED2_uc004dto.1_Silent_p.D493D NM_177433 NP_803182 Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 519 ovary(2)|breast(1) 3 GCAACTGGGACGAAGCTGATA 0.488 NLGN3 54413 broad.mit.edu 37 X 70368006 70368006 + Missense_Mutation SNP A G G TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chrX:70368006A>G uc004dzd.1 + 1 607 c.407A>G c.(406-408)GAG>GGG p.E136G NLGN3_uc010nlb.1_Missense_Mutation_p.E136G|NLGN3_uc004dzb.2_Missense_Mutation_p.E136G|NLGN3_uc004dzc.2_Missense_Mutation_p.E19G|NLGN3_uc011mps.1_Missense_Mutation_p.E136G|NLGN3_uc011mpr.1_Missense_Mutation_p.E136G NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 136 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) TACATCCAGGAGCCCAACGAA 0.612 ATRX 546 broad.mit.edu 37 X 76937694 76937694 + Missense_Mutation SNP C A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chrX:76937694C>A uc004ecp.3 - 9 3286 c.3054G>T c.(3052-3054)AAG>AAT p.K1018N ATRX_uc004ecq.3_Missense_Mutation_p.K980N|ATRX_uc004eco.3_Missense_Mutation_p.K803N|ATRX_uc004ecr.2_Missense_Mutation_p.K950N|ATRX_uc010nlx.1_Missense_Mutation_p.K989N|ATRX_uc010nly.1_Missense_Mutation_p.K963N NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1018 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) GCTCAGGTAACTTTTCAGTGC 0.308 Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome STAG2 10735 broad.mit.edu 37 X 123205085 123205085 + Nonsense_Mutation SNP T A A TCGA-06-6388-01A-12D-1845-08 TCGA-06-6388-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx c9214f8b-6684-4e29-812c-2a44963e8914 4c5eb4d1-3046-4691-99de-dd448adc1dfc g.chrX:123205085T>A uc004etz.3 + 24 2784 c.2445T>A c.(2443-2445)TAT>TAA p.Y815* STAG2_uc004eua.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eub.2_Nonsense_Mutation_p.Y815*|STAG2_uc004euc.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eud.2_Nonsense_Mutation_p.Y815*|STAG2_uc004eue.2_Nonsense_Mutation_p.Y815* NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 815 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CATTAGTGTATACCCCTGATT 0.363