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 SPEN 23013 broad.mit.edu 37 1 16260498 16260498 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:16260498C>G uc001axk.1 + 11 7967 c.7763C>G c.(7762-7764)CCT>CGT p.P2588R SPEN_uc010obp.1_Missense_Mutation_p.P2547R NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 2588 RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAAACAGCACCTCCAGTGACA 0.522 CLCNKB 1188 broad.mit.edu 37 1 16377403 16377403 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:16377403G>A uc001axw.3 + 12 1167 c.1087G>A c.(1087-1089)GAC>AAC p.D363N FAM131C_uc010obz.1_Intron|CLCNKB_uc001axx.3_Missense_Mutation_p.D363N|CLCNKB_uc001axy.3_Missense_Mutation_p.D194N NM_000085 NP_000076 P51801 CLCKB_HUMAN chloride channel Kb isoform 1 363 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity skin(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTCGCTGTTCGACAACCACTC 0.672 LDLRAD2 401944 broad.mit.edu 37 1 22140914 22140914 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:22140914C>G uc001bfg.1 + 2 296 c.109C>G c.(109-111)CAG>GAG p.Q37E NM_001013693 NP_001013715 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain 37 Extracellular (Potential). integral to membrane receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) ACTGTGCGGGCAGACGTGGCA 0.448 HSPG2 3339 broad.mit.edu 37 1 22165399 22165399 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:22165399G>A uc001bfj.2 - 74 10109 c.10069C>T c.(10069-10071)CCT>TCT p.P3357S HSPG2_uc009vqd.2_Missense_Mutation_p.P3358S NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3357 Ig-like C2-type 19. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GAGTCCTCAGGGGCTGCACGC 0.682 ELAVL4 1996 broad.mit.edu 37 1 50610767 50610767 + Missense_Mutation SNP G A A rs116391279 by1000genomes TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:50610767G>A uc001csb.2 + 2 416 c.148G>A c.(148-150)GTC>ATC p.V50I ELAVL4_uc001cry.3_Missense_Mutation_p.V53I|ELAVL4_uc001crz.3_Missense_Mutation_p.V50I|ELAVL4_uc001csa.3_Missense_Mutation_p.V67I|ELAVL4_uc001csc.3_Missense_Mutation_p.V50I|ELAVL4_uc009vyu.2_Missense_Mutation_p.V55I|ELAVL4_uc010omz.1_Missense_Mutation_p.V55I NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 50 RRM 1. mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 CAACCTCATCGTCAACTATTT 0.448 DMRTB1 63948 broad.mit.edu 37 1 53925199 53925199 + Nonsense_Mutation SNP G T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:53925199G>T uc001cvq.1 + 1 128 c.73G>T c.(73-75)GGA>TGA p.G25* NM_033067 NP_149056 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 25 DM. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 GCCCGTCAAGGGACACGCGGG 0.602 ARHGAP29 9411 broad.mit.edu 37 1 94650593 94650594 + Frame_Shift_Ins INS - T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:94650593_94650594insT uc001dqj.3 - 18 2312_2313 c.1943_1944insA c.(1942-1944)AAGfs p.K648fs ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dqk.2_Frame_Shift_Ins_p.K214fs NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 648 Phorbol-ester/DAG-type. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTTCCAAACACTTTCGATGACA 0.361 CD2 914 broad.mit.edu 37 1 117311354 117311354 + Frame_Shift_Del DEL A - - TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:117311354delA uc001egu.3 + 5 1034 c.1005delA c.(1003-1005)CCAfs p.P335fs NM_001767 NP_001758 P06729 CD2_HUMAN CD2 molecule precursor 335 Cytoplasmic (Potential).|Pro-rich. blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation integral to plasma membrane receptor activity breast(1) 1 Lung SC(450;0.225) all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05) Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201) Alefacept(DB00092) GAGTTCAGCCAAAACCTCCCC 0.517 GPATCH4 54865 broad.mit.edu 37 1 156565503 156565504 + Frame_Shift_Ins INS - T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:156565503_156565504insT uc001fpm.2 - 8 668_669 c.629_630insA c.(628-630)AAGfs p.K210fs APOA1BP_uc010php.1_Intron|GPATCH4_uc001fpl.2_Frame_Shift_Ins_p.K205fs NM_015590 NP_056405 Q5T3I0 GPTC4_HUMAN G patch domain containing 4 isoform 1 205 Potential. intracellular nucleic acid binding ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TTTTCTTTTTCTTTTTTTTGGG 0.535 OR10R2 343406 broad.mit.edu 37 1 158450132 158450132 + Silent SNP T C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:158450132T>C uc010pik.1 + 1 465 c.465T>C c.(463-465)CTT>CTC p.L155L uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 155 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) ACCCCACTCTTATGAGCTGGC 0.473 RCSD1 92241 broad.mit.edu 37 1 167667016 167667016 + Silent SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:167667016C>T uc001gem.2 + 6 1342 c.1155C>T c.(1153-1155)ACC>ACT p.T385T RCSD1_uc010pli.1_Silent_p.T355T NM_052862 NP_443094 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 385 ovary(2)|central_nervous_system(2)|skin(1) 5 all_hematologic(923;0.215) GCCCCCAGACCGGCCCTGCCC 0.642 NME7 29922 broad.mit.edu 37 1 169138771 169138771 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:169138771G>A uc001gfu.2 - 11 1250 c.1012C>T c.(1012-1014)CCT>TCT p.P338S NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.P302S NM_013330 NP_037462 Q9Y5B8 NDK7_HUMAN nucleoside diphosphate kinase 7 isoform a 338 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity central_nervous_system(1) 1 all_hematologic(923;0.208) AGAGTTCCAGGGCGTAAATGC 0.368 LAMC1 3915 broad.mit.edu 37 1 183111900 183111900 + Missense_Mutation SNP A G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:183111900A>G uc001gpy.3 + 28 5062 c.4805A>G c.(4804-4806)AAC>AGC p.N1602S NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1602 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCTGCTTCAACACCCCGTCC 0.527 HMCN1 83872 broad.mit.edu 37 1 186107024 186107024 + Missense_Mutation SNP A T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:186107024A>T uc001grq.1 + 89 14073 c.13844A>T c.(13843-13845)AAT>ATT p.N4615I HMCN1_uc001grs.1_Missense_Mutation_p.N184I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4615 TSP type-1 2. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 ACTTGCAATAATCCATCAGTT 0.493 LGALS8 3964 broad.mit.edu 37 1 236711404 236711404 + Missense_Mutation SNP T A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr1:236711404T>A uc001hxz.1 + 11 1278 c.897T>A c.(895-897)AGT>AGA p.S299R LGALS8_uc001hxw.1_Missense_Mutation_p.S341R|LGALS8_uc001hxy.1_Missense_Mutation_p.S341R|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.S299R|LGALS8_uc001hyb.1_Missense_Mutation_p.S299R|LGALS8_uc001hyc.1_Missense_Mutation_p.S282R NM_201543 NP_963837 O00214 LEG8_HUMAN galectin-8 isoform b 299 Galectin 2. cytoplasm|extracellular space sugar binding ovary(1) 1 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AGCTCAGCAGTATTGACACGC 0.408 MYO3A 53904 broad.mit.edu 37 10 26312961 26312961 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr10:26312961C>T uc001isn.2 + 9 1102 c.742C>T c.(742-744)CCA>TCA p.P248S MYO3A_uc009xko.1_Missense_Mutation_p.P248S|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.P248S NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 248 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GAATCCACCCCCAAAACTAAG 0.388 GDF10 2662 broad.mit.edu 37 10 48429323 48429323 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr10:48429323C>T uc001jfb.2 - 2 1019 c.563G>A c.(562-564)CGC>CAC p.R188H GDF10_uc009xnp.2_Missense_Mutation_p.R187H|GDF10_uc009xnq.1_Missense_Mutation_p.R188H NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 188 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 CATGGCCCCGCGGAGTAGCCC 0.731 ZNF195 7748 broad.mit.edu 37 11 3381676 3381676 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr11:3381676C>G uc001lxt.2 - 6 740 c.562G>C c.(562-564)GAC>CAC p.D188H uc001lxr.2_5'Flank|ZNF195_uc001lxv.2_Missense_Mutation_p.D165H|ZNF195_uc001lxs.2_Missense_Mutation_p.D116H|ZNF195_uc010qxr.1_Missense_Mutation_p.D169H|ZNF195_uc009ydz.2_Missense_Mutation_p.D143H|ZNF195_uc001lxu.2_Missense_Mutation_p.D120H NM_001130520 NP_001123992 O14628 ZN195_HUMAN zinc finger protein 195 isoform 1 188 Spacer. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CTTTCCCAGTCTTTCCTTAAA 0.343 CD44 960 broad.mit.edu 37 11 35226085 35226085 + Nonsense_Mutation SNP G T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr11:35226085G>T uc001mvu.2 + 10 1614 c.1180G>T c.(1180-1182)GAA>TAA p.E394* CD44_uc001mvv.2_Nonsense_Mutation_p.E351*|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 394 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) TAGTACAACGGAAGAAACAGC 0.453 PTPRJ 5795 broad.mit.edu 37 11 48134462 48134462 + Silent SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr11:48134462C>T uc001ngp.3 + 3 634 c.279C>T c.(277-279)AAC>AAT p.N93N PTPRJ_uc001ngo.3_Silent_p.N93N NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 93 Extracellular (Potential). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 CTGGAGCCAACGATAGTTTAA 0.453 SLC29A2 3177 broad.mit.edu 37 11 66133408 66133409 + Missense_Mutation DNP CA AC AC TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr11:66133408_66133409CA>AC uc001oht.2 - 10 1286_1287 c.1057_1058TG>GT c.(1057-1059)TGG>GTG p.W353V SLC29A2_uc001ohs.2_Missense_Mutation_p.W233V|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.W233V|SLC29A2_uc001ohu.2_Missense_Mutation_p.W353V|SLC29A2_uc001ohv.2_Missense_Mutation_p.V308G|uc001ohw.1_5'Flank NM_001532 NP_001523 Q14542 S29A2_HUMAN solute carrier family 29 (nucleoside 353 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity ovary(1) 1 TGTGCTTACCCACAGGAAGTAA 0.535 C11orf82 220042 broad.mit.edu 37 11 82639902 82639905 + Frame_Shift_Del DEL CAAA - - TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr11:82639902_82639905delCAAA uc001ozt.2 + 4 441_444 c.197_200delCAAA c.(196-201)TCAAACfs p.S66fs C11orf82_uc010rsr.1_5'UTR|C11orf82_uc010rss.1_Intron|C11orf82_uc009yvd.2_Frame_Shift_Del_p.S66fs NM_145018 NP_659455 Q8IXT1 NOXIN_HUMAN nitric oxide-inducible gene protein 66_67 apoptosis|cell cycle arrest cytoplasm|nucleus ovary(2) 2 GTTGCAGAATCAAACAAATTGTTT 0.343 ROBO4 54538 broad.mit.edu 37 11 124764984 124764984 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr11:124764984C>T uc001qbg.2 - 7 1282 c.1142G>A c.(1141-1143)GGC>GAC p.G381D ROBO4_uc010sas.1_Missense_Mutation_p.G236D|ROBO4_uc001qbh.2_Missense_Mutation_p.G271D|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'UTR NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 381 Fibronectin type-III 2. 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) TACCTGGTAGCCACGGATGAT 0.542 VEZT 55591 broad.mit.edu 37 12 95660405 95660405 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr12:95660405C>T uc001tdz.2 + 5 812 c.707C>T c.(706-708)ACA>ATA p.T236I VEZT_uc009zsy.1_Missense_Mutation_p.T78I|VEZT_uc001tdr.2_Missense_Mutation_p.T78I|VEZT_uc001tds.2_Missense_Mutation_p.T188I|VEZT_uc001tdt.2_Missense_Mutation_p.T188I|VEZT_uc009zsz.1_Missense_Mutation_p.T236I|VEZT_uc001tdv.2_Missense_Mutation_p.T205I|VEZT_uc001tdw.1_Missense_Mutation_p.T188I|VEZT_uc009zta.1_Missense_Mutation_p.T188I NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 236 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 AGAGGATTTACACTGTGAGTT 0.313 STAB2 55576 broad.mit.edu 37 12 104147041 104147041 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr12:104147041G>A uc001tjw.2 + 61 6810 c.6624G>A c.(6622-6624)CAG>CAA p.Q2208Q STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 2208 Extracellular (Potential).|Link. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CACTGGGCCAGTATAAGCTGA 0.567 ABCB9 23457 broad.mit.edu 37 12 123434439 123434439 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr12:123434439C>T uc001udm.3 - 4 1053 c.743G>A c.(742-744)GGC>GAC p.G248D ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Missense_Mutation_p.G248D|ABCB9_uc010taj.1_Missense_Mutation_p.G248D|ABCB9_uc001udp.2_Missense_Mutation_p.G248D|ABCB9_uc001udq.2_Missense_Mutation_p.G30D|ABCB9_uc001udr.2_Missense_Mutation_p.G248D NM_019625 NP_062571 Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), 248 ABC transmembrane type-1. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) GGTAAAAATGCCGCCCCGAAT 0.522 NCOR2 9612 broad.mit.edu 37 12 124857156 124857156 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr12:124857156G>A uc010tba.1 - 20 2336 c.2219C>T c.(2218-2220)GCC>GTC p.A740V NCOR2_uc010tay.1_Missense_Mutation_p.A740V|NCOR2_uc010taz.1_Missense_Mutation_p.A723V|NCOR2_uc010tbb.1_Missense_Mutation_p.A740V|NCOR2_uc010tbc.1_Missense_Mutation_p.A722V|NCOR2_uc001ugj.1_Missense_Mutation_p.A740V NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 740 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTTGACAGTGGCTGTGCAGGG 0.647 PIWIL1 9271 broad.mit.edu 37 12 130830969 130830969 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr12:130830969G>A uc001uik.2 + 5 461 c.371G>A c.(370-372)CGT>CAT p.R124H PIWIL1_uc001uij.1_Missense_Mutation_p.R124H NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 124 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) CTGACATCCCGTCCCCAGTGG 0.393 ENOX1 55068 broad.mit.edu 37 13 43788215 43788215 + Missense_Mutation SNP G A A rs146880051 TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr13:43788215G>A uc001uza.3 - 17 2143 c.1843C>T c.(1843-1845)CGC>TGC p.R615C ENOX1_uc001uzb.3_Missense_Mutation_p.R615C|ENOX1_uc001uzc.3_Missense_Mutation_p.R615C|ENOX1_uc001uyz.3_Missense_Mutation_p.R224C NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 615 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) TTGAACATGCGTGGCAGCCTC 0.433 HEATR5A 25938 broad.mit.edu 37 14 31790820 31790820 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr14:31790820C>T uc001wrf.3 - 19 3052 c.2975G>A c.(2974-2976)AGT>AAT p.S992N HEATR5A_uc010ami.2_Missense_Mutation_p.S890N NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1279 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) GAGCTGGTCACTGTGATCTGT 0.408 FOS 2353 broad.mit.edu 37 14 75745716 75745716 + Missense_Mutation SNP G C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr14:75745716G>C uc001xrn.2 + 1 236 c.31G>C c.(31-33)GAG>CAG p.E11Q FOS_uc010tva.1_Missense_Mutation_p.E11Q|FOS_uc010asi.2_5'Flank|FOS_uc001xro.2_5'Flank NM_005252 NP_005243 P01100 FOS_HUMAN v-fos FBJ murine osteosarcoma viral oncogene 11 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(2)|ovary(1) 3 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CGCAGACTACGAGGCGTCATC 0.662 KCNK13 56659 broad.mit.edu 37 14 90650893 90650893 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr14:90650893G>A uc001xye.1 + 2 1215 c.773G>A c.(772-774)CGC>CAC p.R258H NM_022054 NP_071337 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 258 integral to membrane potassium channel activity|voltage-gated ion channel activity skin(1) 1 all_cancers(154;0.186) GGCCTCTATCGCTTTGCCAAC 0.493 BCL8 606 broad.mit.edu 37 15 20874887 20874887 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr15:20874887C>G uc010tze.1 - 3 458 c.251G>C c.(250-252)GGA>GCA p.G84A BCL8_uc010tzd.1_RNA NR_027992 RecName: Full=Putative protein BCL8; 0 AATAACTGTTCCTATTCTGCA 0.333 RYR3 6263 broad.mit.edu 37 15 34014993 34014993 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr15:34014993C>T uc001zhi.2 + 44 6767 c.6697C>T c.(6697-6699)CGG>TGG p.R2233W RYR3_uc010bar.2_Missense_Mutation_p.R2233W NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2233 4 X approximate repeats.|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) CCCGGCCCTGCGGGGTGAGGG 0.587 CILP 8483 broad.mit.edu 37 15 65495753 65495753 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr15:65495753G>A uc002aon.2 - 7 1156 c.975C>T c.(973-975)AGC>AGT p.S325S NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 325 Ig-like C2-type. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 ACAGAGACACGCTCTGCCCAG 0.498 SCAMP2 10066 broad.mit.edu 37 15 75137888 75137888 + Missense_Mutation SNP T G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr15:75137888T>G uc002azb.1 - 8 855 c.781A>C c.(781-783)ATA>CTA p.I261L ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.I111L|SCAMP2_uc010bkg.1_RNA NM_005697 NP_005688 O15127 SCAM2_HUMAN secretory carrier membrane protein 2 261 Lumenal (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane protein binding ovary(1) 1 ATGACTGATATGGCCAGGGAA 0.557 Unknown 0 broad.mit.edu 37 15 76075166 76075166 + Silent SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr15:76075166C>T uc010umm.1 + 10 806 c.729C>T c.(727-729)AGC>AGT p.S243S uc002bba.1_5'Flank SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6; CTCAGCTGAGCCCCCATCCCC 0.572 ADCY9 115 broad.mit.edu 37 16 4033331 4033331 + Silent SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr16:4033331C>T uc002cvx.2 - 7 2960 c.2421G>A c.(2419-2421)CTG>CTA p.L807L NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 807 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CCTCGTACTTCAGGAAGCAGG 0.637 OREG0023573 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) Unknown 0 broad.mit.edu 37 16 33784672 33784672 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr16:33784672G>A uc010vgb.1 + 2 81 c.61G>A c.(61-63)GTT>ATT p.V21I RecName: Full=Transporter; CATCTTCAACGTTGTGTACTA 0.428 RBL2 5934 broad.mit.edu 37 16 53500990 53500990 + Silent SNP G T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr16:53500990G>T uc002ehi.3 + 14 2002 c.1884G>T c.(1882-1884)CTG>CTT p.L628L RBL2_uc010vgv.1_Silent_p.L554L|RBL2_uc002ehj.2_Silent_p.L338L|RBL2_uc010vgw.1_Silent_p.L412L NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 628 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 CTCAGAACCTGGAAAGGGCAG 0.423 NOB1 28987 broad.mit.edu 37 16 69782153 69782153 + Missense_Mutation SNP C A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr16:69782153C>A uc002exs.2 - 7 822 c.806G>T c.(805-807)CGC>CTC p.R269L NM_014062 NP_054781 Q9ULX3 NOB1_HUMAN nin one binding protein 269 nucleus metal ion binding|protein binding 0 GCCATGGCAGCGCAAGATGTA 0.473 CLDN7 1366 broad.mit.edu 37 17 7163801 7163801 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr17:7163801G>A uc002gfm.3 - 4 961 c.528C>T c.(526-528)ATC>ATT p.I176I CLDN7_uc010cmc.2_3'UTR|CLDN7_uc002gfn.3_Silent_p.I176I NM_001307 NP_001298 O95471 CLD7_HUMAN claudin 7 176 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|lateral plasma membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 CACCTCCCAGGATGACTAGGG 0.572 CDRT15 146822 broad.mit.edu 37 17 14139674 14139674 + Silent SNP G A A rs141627800 TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr17:14139674G>A uc010vvu.1 - 2 336 c.336C>T c.(334-336)GCC>GCT p.A112A CDRT15_uc010coq.2_RNA NM_001007530 NP_001007531 Q96T59 CDRTF_HUMAN CMT1A duplicated region transcript 15 112 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822) TCTCTGGAGGGGCCTCTTCCC 0.607 NF1 4763 broad.mit.edu 37 17 29508438 29508438 + Splice_Site SNP A G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr17:29508438A>G uc002hgg.2 + 6 920 c.587_splice c.e6-2 p.E196_splice NF1_uc002hge.1_Splice_Site_p.E196_splice|NF1_uc002hgf.1_Splice_Site_p.E196_splice|NF1_uc002hgh.2_Splice_Site_p.E196_splice|NF1_uc010csn.1_Splice_Site_p.E56_splice NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGTTTTTTCCAGAAACAGCAT 0.299 D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) TADA2A 6871 broad.mit.edu 37 17 35834667 35834667 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr17:35834667G>A uc002hnt.2 + 15 1236 c.1079G>A c.(1078-1080)CGG>CAG p.R360Q TADA2A_uc002hnv.2_Missense_Mutation_p.R360Q|TADA2A_uc002hnw.2_Missense_Mutation_p.R259Q|TADA2A_uc010cvb.2_Missense_Mutation_p.R156Q NM_001488 NP_001479 O75478 TAD2A_HUMAN transcriptional adaptor 2A isoform a 360 SWIRM. histone H3 acetylation|transcription from RNA polymerase II promoter chromosome|PCAF complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding breast(3)|skin(1) 4 ATAGGTAGACGGAGTGCACCA 0.453 KRT12 3859 broad.mit.edu 37 17 39021192 39021192 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr17:39021192G>A uc002hvk.2 - 3 697 c.673C>T c.(673-675)CGC>TGC p.R225C NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 225 Rod.|Coil 1B. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) ACGCCCTGGCGCAGGGCCAGT 0.552 TANC2 26115 broad.mit.edu 37 17 61466072 61466072 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr17:61466072C>G uc002jal.3 + 14 2569 c.2546C>G c.(2545-2547)TCC>TGC p.S849C TANC2_uc010wpe.1_Missense_Mutation_p.S759C|TANC2_uc002jan.1_5'UTR|TANC2_uc002jao.3_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.S216C NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 849 ANK 1. binding ovary(2) 2 GAAGGTCTTTCCATGGCACTG 0.323 SERPINB10 5273 broad.mit.edu 37 18 61585321 61585321 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr18:61585321G>A uc010xev.1 + 4 447 c.357G>A c.(355-357)ACG>ACA p.T119T SERPINB10_uc010xew.1_Silent_p.T119T NM_005024 NP_005015 P48595 SPB10_HUMAN serine (or cysteine) proteinase inhibitor, clade 119 cytoplasm|nucleus serine-type endopeptidase inhibitor activity p.T119T(1) lung(1)|kidney(1)|skin(1) 3 Esophageal squamous(42;0.131) GAGAGAAAACGTATGCATTTC 0.348 GZMM 3004 broad.mit.edu 37 19 547333 547333 + Missense_Mutation SNP C T T rs148691419 byFrequency TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr19:547333C>T uc002low.1 + 2 154 c.109C>T c.(109-111)CGC>TGC p.R37C NM_005317 NP_005308 P51124 GRAM_HUMAN granzyme M precursor 37 Peptidase S1. apoptosis|cytolysis|innate immune response|proteolysis extracellular region serine-type endopeptidase activity 0 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCCCCACTCGCGCCCGTACAT 0.662 FSD1 79187 broad.mit.edu 37 19 4323057 4323057 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr19:4323057G>A uc002lzy.2 + 11 1267 c.1114G>A c.(1114-1116)GGC>AGC p.G372S FSD1_uc002lzz.2_Missense_Mutation_p.G372S|FSD1_uc002maa.2_Missense_Mutation_p.G185S NM_024333 NP_077309 Q9BTV5 FSD1_HUMAN fibronectin type III and SPRY domain containing 372 B30.2/SPRY. cell division|mitosis cleavage furrow|microtubule|microtubule organizing center|nucleus skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18) GTTCGGCGTGGGCGTGGCCTA 0.687 ZNF799 90576 broad.mit.edu 37 19 12501446 12501446 + Missense_Mutation SNP T C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr19:12501446T>C uc010dyt.2 - 4 1916 c.1766A>G c.(1765-1767)GAA>GGA p.E589G ZNF799_uc002mts.3_Intron NM_001080821 NP_001074290 Q96GE5 ZN799_HUMAN zinc finger protein 799 589 C2H2-type 17. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TTCCTTACATTCATACGGGTT 0.413 KPTN 11133 broad.mit.edu 37 19 47979804 47979804 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr19:47979804G>A uc002pgy.2 - 11 1271 c.1167C>T c.(1165-1167)GGC>GGT p.G389G KPTN_uc010xys.1_RNA NM_007059 NP_008990 Q9Y664 KPTN_HUMAN kaptin (actin binding protein) 389 actin filament organization|cellular component movement|sensory perception of sound actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium actin binding ovary(1) 1 all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694) GGATGTGCACGCCCTTCAGGG 0.627 TNNT1 7138 broad.mit.edu 37 19 55645562 55645562 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr19:55645562C>G uc002qjb.3 - 12 711 c.622G>C c.(622-624)GCC>CCC p.A208P TNNT1_uc002qiz.3_Intron|TNNT1_uc002qja.3_Intron|TNNT1_uc002qjc.3_Intron|TNNT1_uc002qje.3_Intron|TNNT1_uc002qjd.3_Intron NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 208 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) GGCAGCCAGGCAGACCGGGCC 0.448 LHCGR 3973 broad.mit.edu 37 2 48915481 48915481 + Silent SNP C A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr2:48915481C>A uc002rwu.3 - 11 1525 c.1455G>T c.(1453-1455)CTG>CTT p.L485L GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 485 Helical; Name=4; (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) CAAGCATAATCAGAATGGCAT 0.453 Familial_Male-Limited_Precocious_Puberty CKAP2L 150468 broad.mit.edu 37 2 113514209 113514209 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr2:113514209C>T uc002tie.2 - 4 818 c.739G>A c.(739-741)GGA>AGA p.G247R CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.G82R|CKAP2L_uc010yxq.1_Missense_Mutation_p.G82R NM_152515 NP_689728 Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 247 centrosome 0 TGTGTTTCTCCAACAAATTGT 0.403 WASH2P 375260 broad.mit.edu 37 2 114355998 114355998 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr2:114355998C>G uc002tkh.2 + 5 674 c.616C>G c.(616-618)CAC>GAC p.H206D WASH2P_uc002tka.2_RNA|WASH2P_uc002tkb.2_RNA|WASH2P_uc002tkd.2_RNA NM_182905 NP_878908 WAS protein family homolog 1 0 CCAAGGTGGGCACTTGATGTC 0.612 TRAK2 66008 broad.mit.edu 37 2 202250994 202250994 + Missense_Mutation SNP G T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr2:202250994G>T uc002uyb.3 - 14 2356 c.1910C>A c.(1909-1911)CCA>CAA p.P637Q NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 637 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 CCCTGTTACTGGCTTGGATGT 0.418 KRTAP19-5 337972 broad.mit.edu 37 21 31874370 31874370 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr21:31874370G>A uc011ada.1 - 1 39 c.39C>T c.(37-39)TAC>TAT p.Y13Y NM_181611 NP_853642 Q3LI72 KR195_HUMAN keratin associated protein 19-5 13 intermediate filament protein binding 0 CTCCGTAGCCGTAGCCCAGGC 0.572 KRTAP6-1 337966 broad.mit.edu 37 21 31986219 31986219 + Missense_Mutation SNP C T T rs146113466 TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr21:31986219C>T uc002yop.2 - 1 5 c.5G>A c.(4-6)TGT>TAT p.C2Y KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 2 cytosol|intermediate filament 0 GTAGCTGCCACACATGGTGTT 0.547 SBF1 6305 broad.mit.edu 37 22 50886843 50886843 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr22:50886843C>T uc003blh.2 - 38 5377 c.5182G>A c.(5182-5184)GCA>ACA p.A1728T SBF1_uc003ble.2_Missense_Mutation_p.A192T|SBF1_uc003blf.2_Missense_Mutation_p.A204T|SBF1_uc011arx.1_Missense_Mutation_p.A1366T NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 1702 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGGTGGGGTGCGGTGGACACA 0.657 CNTN6 27255 broad.mit.edu 37 3 1339583 1339583 + Silent SNP G T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:1339583G>T uc003boz.2 + 7 936 c.669G>T c.(667-669)GGG>GGT p.G223G CNTN6_uc010hbo.2_Silent_p.G218G|CNTN6_uc011asj.1_Silent_p.G151G|CNTN6_uc003bpa.2_Silent_p.G223G NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 223 axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTGTGATGGGGGAATATGAAC 0.353 ITPR1 3708 broad.mit.edu 37 3 4856788 4856788 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:4856788G>A uc003bqa.2 + 56 7957 c.7609G>A c.(7609-7611)GTC>ATC p.V2537I ITPR1_uc010hca.1_Missense_Mutation_p.V2522I|ITPR1_uc011asu.1_Missense_Mutation_p.V548I|ITPR1_uc003bqc.2_Missense_Mutation_p.V1507I|ITPR1_uc010hcc.1_Missense_Mutation_p.V305I|ITPR1_uc011asv.1_Missense_Mutation_p.V261I NM_001099952 NP_001093422 Q14643 ITPR1_HUMAN inositol 1,4,5-triphosphate receptor, type 1 2585 Helical; (Potential). activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding lung(7)|breast(5)|ovary(4)|large_intestine(1)|liver(1)|skin(1)|kidney(1)|pancreas(1) 21 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) CTTCTTCATGGTCATCATCAT 0.448 ATP2B2 491 broad.mit.edu 37 3 10452358 10452358 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:10452358G>A uc003bvt.2 - 3 780 c.341C>T c.(340-342)GCC>GTC p.A114V ATP2B2_uc003bvv.2_Missense_Mutation_p.A114V|ATP2B2_uc003bvw.2_Missense_Mutation_p.A114V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A114V|ATP2B2_uc010hdo.2_5'UTR NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 114 Helical; (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 GATGATGGCGGCAATCTCCAG 0.592 C3orf20 84077 broad.mit.edu 37 3 14799018 14799018 + Missense_Mutation SNP A C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:14799018A>C uc003byy.2 + 13 2485 c.2081A>C c.(2080-2082)GAC>GCC p.D694A C3orf20_uc003byz.2_Missense_Mutation_p.D572A|C3orf20_uc003bza.2_Missense_Mutation_p.D572A|C3orf20_uc003bzb.1_Missense_Mutation_p.D195A|C3orf20_uc011avj.1_Missense_Mutation_p.D21A NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 694 cytoplasm|integral to membrane ovary(3)|skin(1) 4 CTGGTCTCTGACGTGGAGCTG 0.632 MYRIP 25924 broad.mit.edu 37 3 40231528 40231528 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:40231528G>A uc003cka.2 + 10 1374 c.1239G>A c.(1237-1239)AGG>AGA p.R413R MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.R413R|MYRIP_uc010hhw.2_Silent_p.R324R|MYRIP_uc011ayz.1_Silent_p.R226R|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 413 Myosin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) TGTGTCCCAGGTCCCGGGCCC 0.637 PIK3CB 5291 broad.mit.edu 37 3 138374244 138374244 + Missense_Mutation SNP T G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:138374244T>G uc011bmq.1 - 22 3200 c.3200A>C c.(3199-3201)GAC>GCC p.D1067A PIK3CB_uc011bmn.1_Missense_Mutation_p.D579A|PIK3CB_uc011bmo.1_Missense_Mutation_p.D518A|PIK3CB_uc011bmp.1_Missense_Mutation_p.D654A|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1067 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 AGATCTGTAGTCTTTCCGAAC 0.408 PIK3CB 5291 broad.mit.edu 37 3 138374281 138374281 + Missense_Mutation SNP T C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:138374281T>C uc011bmq.1 - 22 3163 c.3163A>G c.(3163-3165)ACT>GCT p.T1055A PIK3CB_uc011bmn.1_Missense_Mutation_p.T567A|PIK3CB_uc011bmo.1_Missense_Mutation_p.T506A|PIK3CB_uc011bmp.1_Missense_Mutation_p.T642A|PIK3CB_uc003est.1_RNA NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 1055 PI3K/PI4K. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(2)|ovary(1)|lung(1)|skin(1) 5 TTCACTTTAGTAGTCCAGCTT 0.413 KCNAB1 7881 broad.mit.edu 37 3 155838668 155838668 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:155838668C>T uc003far.2 + 1 332 c.268C>T c.(268-270)CCG>TCG p.P90S KCNAB1_uc011bon.1_Missense_Mutation_p.P90S NM_172160 NP_751892 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related 90 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity ovary(3)|skin(1) 4 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CACAGGCATGCCGCACAGGTA 0.592 VPS8 23355 broad.mit.edu 37 3 184543975 184543975 + Missense_Mutation SNP C G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:184543975C>G uc003fpb.1 + 3 349 c.178C>G c.(178-180)CCT>GCT p.P60A VPS8_uc010hyd.1_Missense_Mutation_p.P60A|VPS8_uc003fpc.1_Missense_Mutation_p.P60A NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 60 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GTTTGATATTCCTCAAGTTGA 0.318 ACAP2 23527 broad.mit.edu 37 3 195012473 195012473 + Silent SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr3:195012473C>T uc003fun.3 - 20 2266 c.2025G>A c.(2023-2025)CGG>CGA p.R675R NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 675 ANK 2. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 GCAATGGTCCCCGCCCTTGGA 0.413 AFP 174 broad.mit.edu 37 4 74316398 74316398 + Frame_Shift_Del DEL A - - TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr4:74316398delA uc003hgz.1 + 11 1403 c.1356delA c.(1354-1356)AGAfs p.R452fs AFP_uc003hha.1_Frame_Shift_Del_p.R452fs|AFP_uc011cbg.1_Frame_Shift_Del_p.R226fs NM_001134 NP_001125 P02771 FETA_HUMAN alpha-fetoprotein precursor 452 Albumin 3. transport metal ion binding ovary(1) 1 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CCATCACCAGAAAAATGGCAG 0.517 Alpha-Fetoprotein_Hereditary_Persistence_of AFF1 4299 broad.mit.edu 37 4 88048823 88048823 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr4:88048823G>A uc003hqj.3 + 15 3318 c.2911G>A c.(2911-2913)GCA>ACA p.A971T AFF1_uc011ccz.1_Missense_Mutation_p.A978T|AFF1_uc003hqk.3_Missense_Mutation_p.A971T|AFF1_uc011cda.1_Missense_Mutation_p.A609T NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 971 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CATGAGGGAGGCAAAAAAGAT 0.378 NR3C2 4306 broad.mit.edu 37 4 149181209 149181209 + Missense_Mutation SNP A C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr4:149181209A>C uc003ilj.3 - 3 2152 c.1818T>G c.(1816-1818)TGT>TGG p.C606W NR3C2_uc003ilk.3_Missense_Mutation_p.C606W|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 606 NR C4-type.|Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CCTCATCCCCACACACCAAAC 0.413 POC5 134359 broad.mit.edu 37 5 74998543 74998543 + Missense_Mutation SNP T C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr5:74998543T>C uc003keh.3 - 5 597 c.400A>G c.(400-402)ACA>GCA p.T134A POC5_uc010izu.2_Missense_Mutation_p.T17A|POC5_uc003keg.3_Missense_Mutation_p.T109A NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 134 cell cycle centriole lung(1) 1 CTAGAATTTGTTGCTGGTGAG 0.403 HIVEP1 3096 broad.mit.edu 37 6 12121493 12121493 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr6:12121493G>A uc003nac.2 + 4 1644 c.1465G>A c.(1465-1467)GTA>ATA p.V489I HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 489 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TCATTCAGACGTAGAAGACAG 0.527 SNX14 57231 broad.mit.edu 37 6 86258062 86258062 + Missense_Mutation SNP G C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr6:86258062G>C uc003pkr.2 - 9 1017 c.824C>G c.(823-825)TCT>TGT p.S275C SNX14_uc003pkp.2_Missense_Mutation_p.S138C|SNX14_uc003pkq.2_5'UTR|SNX14_uc011dzg.1_Missense_Mutation_p.S223C|SNX14_uc003pks.2_Missense_Mutation_p.S231C|SNX14_uc003pkt.2_Missense_Mutation_p.S275C NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 275 PXA. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) CACAGAGCCAGACAGAATCTC 0.219 SIM1 6492 broad.mit.edu 37 6 100901720 100901720 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr6:100901720C>T uc003pqj.3 - 2 383 c.176G>A c.(175-177)GGG>GAG p.G59E SIM1_uc010kcu.2_Missense_Mutation_p.G59E NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 59 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) CTCGCCGAGCCCTGTGGAGAC 0.627 BVES 11149 broad.mit.edu 37 6 105549004 105549004 + Missense_Mutation SNP G A A rs138992583 TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr6:105549004G>A uc003pqw.2 - 8 1200 c.1043C>T c.(1042-1044)CCG>CTG p.P348L BVES_uc003pqx.2_Missense_Mutation_p.P348L|BVES_uc003pqy.2_Missense_Mutation_p.P348L NM_147147 NP_671488 Q8NE79 POPD1_HUMAN blood vessel epicardial substance isoform 5 348 Cytoplasmic (Potential). epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity 0 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) TGGAGATGCCGGTTCAAAAAC 0.453 TIAM2 26230 broad.mit.edu 37 6 155498003 155498003 + Missense_Mutation SNP C A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr6:155498003C>A uc003qqb.2 + 12 3688 c.2415C>A c.(2413-2415)GAC>GAA p.D805E TIAM2_uc003qqe.2_Missense_Mutation_p.D805E|TIAM2_uc010kjj.2_Missense_Mutation_p.D338E|TIAM2_uc003qqf.2_Missense_Mutation_p.D181E|TIAM2_uc011efl.1_Missense_Mutation_p.D141E|TIAM2_uc003qqg.2_Missense_Mutation_p.D117E NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 805 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TTCCCCGAGACAATGCATGGG 0.408 FNDC1 84624 broad.mit.edu 37 6 159672498 159672498 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr6:159672498G>A uc010kjv.2 + 17 5199 c.4999G>A c.(4999-5001)GTG>ATG p.V1667M NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1667 Fibronectin type-III 5. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGTGGTGGCCGTGGAAGGTTG 0.537 MAD1L1 8379 broad.mit.edu 37 7 2255875 2255875 + Silent SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr7:2255875C>T uc003slh.1 - 8 992 c.726G>A c.(724-726)GTG>GTA p.V242V MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.V242V|MAD1L1_uc003slg.1_Silent_p.V242V|MAD1L1_uc010ksh.1_Silent_p.V242V|MAD1L1_uc003sli.1_Silent_p.V150V|MAD1L1_uc010ksi.1_Silent_p.V195V|MAD1L1_uc010ksj.2_Silent_p.V242V NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 242 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) TCATGTTCTTCACAATCGCTG 0.493 HOXA13 3209 broad.mit.edu 37 7 27238936 27238936 + Missense_Mutation SNP A G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr7:27238936A>G uc003szb.1 - 1 790 c.761T>C c.(760-762)GTG>GCG p.V254A uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 254 skeletal system development nucleus sequence-specific DNA binding breast(1) 1 GCCCGGCACCACTGGCATATC 0.672 T NUP98 AML ZNF479 90827 broad.mit.edu 37 7 57187809 57187809 + Missense_Mutation SNP T G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr7:57187809T>G uc010kzo.2 - 5 1584 c.1313A>C c.(1312-1314)AAA>ACA p.K438T NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 438 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) TTCTTCACATTTGTAGGGTCT 0.453 ASZ1 136991 broad.mit.edu 37 7 117067510 117067510 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr7:117067510G>A uc003vjb.2 - 1 68 c.5C>T c.(4-6)GCG>GTG p.A2V ASZ1_uc011kno.1_Missense_Mutation_p.A2V|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 2 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CGCGCTCGCCGCCATGCCAGC 0.692 OREG0003439 type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay TRPV6 55503 broad.mit.edu 37 7 142575507 142575507 + Silent SNP C T T rs145875993 TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr7:142575507C>T uc003wbx.1 - 3 462 c.246G>A c.(244-246)GCG>GCA p.A82A TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 82 Cytoplasmic (Potential).|ANK 2. regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) CTATGTGTAGCGCTGTTTCCC 0.562 ARHGEF5 7984 broad.mit.edu 37 7 144060770 144060770 + Silent SNP T C C rs141931104 by1000genomes TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr7:144060770T>C uc003wel.2 + 2 1126 c.1008T>C c.(1006-1008)AAT>AAC p.N336N ARHGEF5_uc003wek.2_Silent_p.N336N NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 336 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) CAGAAGAGAATAGGGCGGACT 0.512 DPYSL2 1808 broad.mit.edu 37 8 26492400 26492400 + Silent SNP C A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr8:26492400C>A uc003xfb.1 + 8 1145 c.795C>A c.(793-795)GCC>GCA p.A265A DPYSL2_uc003xfa.2_Silent_p.A370A|DPYSL2_uc011lag.1_Silent_p.A265A|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Silent_p.A229A NM_001386 NP_001377 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 265 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding large_intestine(1) 1 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) AGGTCATCGCCCAGGCACGGA 0.607 LYN 4067 broad.mit.edu 37 8 56854426 56854426 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr8:56854426G>A uc003xsk.3 + 2 290 c.8G>A c.(7-9)TGT>TAT p.C3Y LYN_uc003xsl.3_Missense_Mutation_p.C3Y NM_002350 NP_002341 P07948 LYN_HUMAN Yamaguchi sarcoma viral (v-yes-1) oncogene 3 C->A: Loss of localization to the cell membrane; when associated with A-2. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) AATATGGGATGTATAAAATCA 0.343 DMRT2 10655 broad.mit.edu 37 9 1056405 1056405 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr9:1056405G>A uc003zha.2 + 4 1018 c.818G>A c.(817-819)CGC>CAC p.R273H DMRT2_uc003zgx.3_Missense_Mutation_p.R40H|DMRT2_uc010mgz.2_Missense_Mutation_p.R40H|DMRT2_uc003zgy.3_Missense_Mutation_p.R117H|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.R273H NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 273 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CTGCCCAACCGCATGGTGCCT 0.473 KIAA1045 23349 broad.mit.edu 37 9 34971375 34971375 + Missense_Mutation SNP G T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr9:34971375G>T uc003zvq.2 + 2 258 c.80G>T c.(79-81)GGG>GTG p.G27V KIAA1045_uc003zvr.2_Missense_Mutation_p.G27V NM_015297 NP_056112 Q9UPV7 K1045_HUMAN hypothetical protein LOC23349 27 calcium ion binding skin(1) 1 LUSC - Lung squamous cell carcinoma(32;0.00575) TTCAAGGATGGGCTGCGGGAC 0.607 OR13C3 138803 broad.mit.edu 37 9 107298263 107298263 + Missense_Mutation SNP C A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chr9:107298263C>A uc004bcb.1 - 1 832 c.832G>T c.(832-834)GTG>TTG p.V278L NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, 278 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 AATATGATCACCACAGTCAGG 0.418 CCNB3 85417 broad.mit.edu 37 X 50053319 50053319 + Missense_Mutation SNP G T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:50053319G>T uc004dox.3 + 6 2448 c.2150G>T c.(2149-2151)AGC>ATC p.S717I CCNB3_uc004doy.2_Missense_Mutation_p.S717I|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 717 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CAGGAGAAAAGCACCATGGAA 0.453 ZC3H12B 340554 broad.mit.edu 37 X 64721739 64721739 + Silent SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:64721739G>A uc010nko.2 + 5 1137 c.1128G>A c.(1126-1128)TCG>TCA p.S376S NM_001010888 NP_001010888 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 376 endonuclease activity|nucleic acid binding|zinc ion binding lung(1)|kidney(1)|pancreas(1) 3 CCCAGCGTTCGGTGGCTGATG 0.527 AWAT2 158835 broad.mit.edu 37 X 69263788 69263788 + Silent SNP A G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:69263788A>G uc004dxt.1 - 3 261 c.255T>C c.(253-255)TAT>TAC p.Y85Y NM_001002254 NP_001002254 Q6E213 AWAT2_HUMAN wax synthase 2 85 endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity 0 TGAGAGGGAAATAATCGCTGT 0.557 NONO 4841 broad.mit.edu 37 X 70514099 70514099 + Missense_Mutation SNP T C C TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:70514099T>C uc004dzo.2 + 6 1081 c.371T>C c.(370-372)ATT>ACT p.I124T BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.I124T|NONO_uc004dzp.2_Missense_Mutation_p.I124T|NONO_uc011mpv.1_Missense_Mutation_p.I35T|NONO_uc004dzq.2_5'UTR NM_001145408 NP_001138880 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 124 DBHS.|RRM 1. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) ovary(2)|kidney(2) 4 Renal(35;0.156) CTAGCGGAGATTGCCAAAGTG 0.488 T TFE3 papillary renal cancer TAF1 6872 broad.mit.edu 37 X 70586172 70586172 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:70586172C>T uc004dzu.3 + 1 59 c.8C>T c.(7-9)CCC>CTC p.P3L BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.P3L NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 3 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) TCTATGGGACCCGGCTGCGAT 0.537 ACTRT1 139741 broad.mit.edu 37 X 127185764 127185764 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:127185764G>A uc004eum.2 - 1 619 c.422C>T c.(421-423)GCG>GTG p.A141V NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 141 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 CGCTGCCACCGCATGATTAGA 0.522 SLC25A14 9016 broad.mit.edu 37 X 129492634 129492634 + Silent SNP A G G TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:129492634A>G uc004evn.1 + 7 732 c.519A>G c.(517-519)GGA>GGG p.G173G SLC25A14_uc011mut.1_Missense_Mutation_p.K110E|SLC25A14_uc011muu.1_Silent_p.G173G|SLC25A14_uc010nrg.2_Silent_p.G170G|SLC25A14_uc004evo.1_5'UTR|SLC25A14_uc004evp.1_Silent_p.G173G|SLC25A14_uc004evq.1_Silent_p.G170G|SLC25A14_uc004evr.1_Silent_p.G170G NM_003951 NP_003942 O95258 UCP5_HUMAN solute carrier family 25, member 14 isoform 173 Solcar 2. aerobic respiration|mitochondrial transport integral to plasma membrane|mitochondrial inner membrane binding ovary(1) 1 AGGCTCAAGGAAGCTTGTTCC 0.353 GPR112 139378 broad.mit.edu 37 X 135433699 135433699 + Missense_Mutation SNP C T T TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:135433699C>T uc004ezu.1 + 7 7112 c.6821C>T c.(6820-6822)TCG>TTG p.S2274L GPR112_uc010nsb.1_Missense_Mutation_p.S2069L|GPR112_uc010nsc.1_Intron NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2274 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) ACGGAAAATTCGGTAAAATAA 0.254 ATP11C 286410 broad.mit.edu 37 X 138879436 138879436 + Missense_Mutation SNP C A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:138879436C>A uc004faz.2 - 11 1015 c.916G>T c.(916-918)GCT>TCT p.A306S ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.A306S NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 306 Helical; (Potential). ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) CATACTGCAGCTTTGGTCAGT 0.343 TKTL1 8277 broad.mit.edu 37 X 153543586 153543586 + Missense_Mutation SNP G A A TCGA-32-2494-01A-01D-1353-08 TCGA-32-2494-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 7d45df59-16c5-4706-82ec-6d2f729324ab 6a0d3963-8762-440e-b8f2-757de41b3204 g.chrX:153543586G>A uc004fkg.2 + 7 1114 c.928G>A c.(928-930)GTT>ATT p.V310I TKTL1_uc011mzl.1_Missense_Mutation_p.V304I|TKTL1_uc011mzm.1_Missense_Mutation_p.V106I|TKTL1_uc004fkh.2_Missense_Mutation_p.V254I NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 310 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CAACAGAGTCGTTGTGCTGGA 0.483