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 KIAA1751 85452 broad.mit.edu 37 1 1888142 1888142 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:1888142C>T uc001aim.1 - 17 2089 c.1933G>A c.(1933-1935)GTT>ATT p.V645I KIAA1751_uc009vkz.1_Missense_Mutation_p.V645I NM_001080484 NP_001073953 Q9C0B2 K1751_HUMAN hypothetical protein LOC85452 645 pancreas(1) 1 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) AAGCCCCCAACGTTGGTCAGC 0.572 KIF1B 23095 broad.mit.edu 37 1 10425498 10425498 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:10425498G>A uc001aqx.3 + 43 4746 c.4544G>A c.(4543-4545)CGT>CAT p.R1515H KIF1B_uc001aqw.3_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.2_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.2_Missense_Mutation_p.R1515H|KIF1B_uc001ara.2_Missense_Mutation_p.R1475H|KIF1B_uc001arb.2_Missense_Mutation_p.R1501H NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1515 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TTGCTGCTGCGTGAGAGACTT 0.507 RPL11 6135 broad.mit.edu 37 1 24019182 24019185 + Frame_Shift_Del DEL AGAC - - TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:24019182_24019185delAGAC uc001bhk.2 + 2 110_113 c.90_93delAGAC c.(88-93)GGAGACfs p.G30fs RPL11_uc001bhl.2_Frame_Shift_Del_p.G29fs|RPL11_uc001bhm.2_Frame_Shift_Del_p.G19fs|RPL11_uc001bhn.1_Frame_Shift_Del_p.G19fs NM_000975 NP_000966 P62913 RL11_HUMAN ribosomal protein L11 30_31 D -> G (in Ref. 1; CAA55816). endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) GGGAGAGTGGAGACAGACTGACGC 0.544 CNKSR1 10256 broad.mit.edu 37 1 26507077 26507077 + Silent SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:26507077C>T uc001bln.3 + 2 244 c.186C>T c.(184-186)GGC>GGT p.G62G CNKSR1_uc010oex.1_RNA|CNKSR1_uc001blm.3_Silent_p.G62G|CNKSR1_uc009vsd.2_5'UTR|CNKSR1_uc009vse.2_5'UTR|CNKSR1_uc001blo.2_5'UTR NM_006314 NP_006305 Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 62 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging lung(1)|kidney(1) 2 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) TCATCCTGGGCGGGGTGGAAC 0.657 Unknown 0 broad.mit.edu 37 1 33772943 33772943 + Silent SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:33772943G>A uc001bxd.1 - 5 447 c.447C>T c.(445-447)CGC>CGT p.R149R NM_001080438 NP_001073907 RecName: Full=Alpha 1,3-galactosyltransferase 2; Short=A3galt2; EC=2.4.1.87; AltName: Full=Isoglobotriaosylceramide synthase; AltName: Full=iGb3 synthase; Short=iGb3S; Flags: Precursor; CCAGCGCCACGCGGGGCACCG 0.716 TACSTD2 4070 broad.mit.edu 37 1 59042498 59042498 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:59042498C>T uc001cyz.3 - 1 669 c.331G>A c.(331-333)GAG>AAG p.E111K NM_002353 NP_002344 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 111 Extracellular (Potential).|Thyroglobulin type-1. cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity 0 all_cancers(7;6.54e-05) AAGCGGCCCTCGGGGTCGCAG 0.706 CCDC18 343099 broad.mit.edu 37 1 93698049 93698049 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:93698049G>A uc001dpq.2 + 18 2881 c.2713G>A c.(2713-2715)GTT>ATT p.V905I CCDC18_uc009wdl.1_Missense_Mutation_p.V422I NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 786 Potential. ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TGAGCAAAACGTTATTCTACA 0.318 NOTCH2 4853 broad.mit.edu 37 1 120510196 120510196 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr1:120510196C>T uc001eik.2 - 8 1569 c.1313G>A c.(1312-1314)GGC>GAC p.G438D NOTCH2_uc001eil.2_Missense_Mutation_p.G438D|NOTCH2_uc001eim.3_Missense_Mutation_p.G355D NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 438 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGAAGGCGCCATCCGTGTT 0.478 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome PTCHD3 374308 broad.mit.edu 37 10 27688091 27688091 + Missense_Mutation SNP A T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr10:27688091A>T uc001itu.2 - 4 1554 c.1436T>A c.(1435-1437)ATG>AAG p.M479K NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 479 SSD. spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GACATTGGACATCCGCTCTCG 0.403 RPL13AP6 644511 broad.mit.edu 37 10 112696573 112696573 + Missense_Mutation SNP T C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr10:112696573T>C uc010qrh.1 - 1 441 c.419A>G c.(418-420)CAC>CGC p.H140R SHOC2_uc001kzl.3_Intron|SHOC2_uc009xxx.2_Intron|SHOC2_uc010qrg.1_Intron NR_026715 SubName: Full=cDNA FLJ51256, highly similar to 60S ribosomal protein L13a; 0 GTGAGCCAGGTGCCCCAGATA 0.537 TRIM3 10612 broad.mit.edu 37 11 6470405 6470405 + Missense_Mutation SNP G C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr11:6470405G>C uc001mdh.2 - 13 2475 c.2088C>G c.(2086-2088)TTC>TTG p.F696L TRIM3_uc001mdi.2_Missense_Mutation_p.F696L|TRIM3_uc010raj.1_Missense_Mutation_p.F577L|TRIM3_uc009yfd.2_Missense_Mutation_p.F696L NM_006458 NP_006449 O75382 TRIM3_HUMAN tripartite motif-containing 3 696 NHL 5. nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding central_nervous_system(2)|large_intestine(1)|ovary(1)|skin(1) 5 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAGCTGTCGAATACCTGGG 0.562 SYT9 143425 broad.mit.edu 37 11 7324279 7324279 + Missense_Mutation SNP T C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr11:7324279T>C uc001mfe.2 + 2 392 c.155T>C c.(154-156)GTG>GCG p.V52A SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 52 Vesicular (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GATATCTCAGTGAGCCTGCTG 0.537 ANO1 55107 broad.mit.edu 37 11 69924755 69924755 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr11:69924755C>T uc001opj.2 + 1 348 c.43C>T c.(43-45)CGC>TGC p.R15C NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 15 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 GGCCGAGGACCGCAGCGTCCA 0.731 NOX4 50507 broad.mit.edu 37 11 89155085 89155085 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr11:89155085G>A uc001pct.2 - 8 853 c.614C>T c.(613-615)ACG>ATG p.T205M NOX4_uc009yvr.2_Missense_Mutation_p.T180M|NOX4_uc001pcu.2_Missense_Mutation_p.T131M|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.T205M|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.T39M|NOX4_uc009yvp.2_Missense_Mutation_p.T205M|NOX4_uc010rtv.1_Missense_Mutation_p.T181M|NOX4_uc009yvq.2_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 205 Helical; (Potential).|Ferric oxidoreductase. cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) AACATGCAACGTCAGCAGCAT 0.333 CARD16 114769 broad.mit.edu 37 11 104915384 104915384 + Missense_Mutation SNP G T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr11:104915384G>T uc001pip.1 - 2 36 c.9C>A c.(7-9)GAC>GAA p.D3E CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.D3E NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 3 CARD. regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 TCAGGACCTTGTCTGTTTGGA 0.408 OLR1 4973 broad.mit.edu 37 12 10319338 10319338 + Missense_Mutation SNP T A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:10319338T>A uc001qxo.1 - 3 511 c.397A>T c.(397-399)ACA>TCA p.T133S OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc010sha.1_Missense_Mutation_p.T133S NM_002543 NP_002534 P78380 OLR1_HUMAN oxidized low density lipoprotein (lectin-like) 133 Extracellular (Potential).|Neck. blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis extracellular region|integral to plasma membrane|membrane fraction sugar binding ovary(1) 1 CTCTTCAGTGTTTCTTGGAGA 0.403 CSRNP2 81566 broad.mit.edu 37 12 51457947 51457947 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:51457947G>A uc001rxu.1 - 5 1512 c.1214C>T c.(1213-1215)ACG>ATG p.T405M NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 405 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GCTGTTCACCGTTGAGGCAGT 0.567 MYO1A 4640 broad.mit.edu 37 12 57430106 57430106 + Missense_Mutation SNP G T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:57430106G>T uc001smw.3 - 22 2577 c.2334C>A c.(2332-2334)TTC>TTA p.F778L MYO1A_uc010sqz.1_Missense_Mutation_p.F616L|MYO1A_uc009zpd.2_Missense_Mutation_p.F778L NM_005379 NP_005370 Q9UBC5 MYO1A_HUMAN myosin IA 778 sensory perception of sound|vesicle localization brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex actin binding|ATP binding|calmodulin binding|motor activity skin(4)|ovary(2)|urinary_tract(1) 7 TCTTGTAGATGAAATCTGCCA 0.502 IL22 50616 broad.mit.edu 37 12 68646552 68646552 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:68646552C>T uc001sty.1 - 2 297 c.244G>A c.(244-246)GGA>AGA p.G82R IL22_uc010stb.1_Missense_Mutation_p.G82R NM_020525 NP_065386 Q9GZX6 IL22_HUMAN interleukin 22 precursor 82 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding 0 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) ACACTGACTCCGTGGAACAGT 0.498 MDM1 56890 broad.mit.edu 37 12 68719231 68719231 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:68719231G>A uc001stz.2 - 4 759 c.623C>T c.(622-624)GCA>GTA p.A208V MDM1_uc010stc.1_Intron|MDM1_uc009zqv.1_5'UTR|MDM1_uc001sua.3_3'UTR|MDM1_uc010std.1_3'UTR NM_017440 NP_059136 Q8TC05 MDM1_HUMAN mouse Mdm1 nuclear protein homolog isoform 1 208 nucleus ovary(3)|skin(2) 5 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) CTGATTGGCTGCAAAAGCTGG 0.338 KCNC2 3747 broad.mit.edu 37 12 75444575 75444575 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:75444575C>T uc001sxg.1 - 3 1754 c.1210G>A c.(1210-1212)GAG>AAG p.E404K KCNC2_uc009zry.2_Missense_Mutation_p.E404K|KCNC2_uc001sxe.2_Missense_Mutation_p.E404K|KCNC2_uc001sxf.2_Missense_Mutation_p.E404K|KCNC2_uc010stw.1_Missense_Mutation_p.E404K NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 404 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CCCACTCTCTCGGCATAGTAG 0.448 RIMBP2 23504 broad.mit.edu 37 12 130927141 130927141 + Silent SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:130927141G>A uc001uil.2 - 8 869 c.705C>T c.(703-705)AAC>AAT p.N235N RIMBP2_uc001uim.2_Silent_p.N143N|RIMBP2_uc001uin.1_Translation_Start_Site NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 235 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ACCGCGACTCGTTGTCCTGCA 0.582 EP400 57634 broad.mit.edu 37 12 132490816 132490816 + Missense_Mutation SNP T G G TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr12:132490816T>G uc001ujn.2 + 13 3130 c.3095T>G c.(3094-3096)CTG>CGG p.L1032R EP400_uc001ujl.2_Missense_Mutation_p.L1031R|EP400_uc001ujm.2_Missense_Mutation_p.L1032R NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 1068 Interactions with RUVBL1 and RUVBL2. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAAGCCATCCTGCCGAAGGGC 0.542 TSSK4 283629 broad.mit.edu 37 14 24675764 24675764 + Missense_Mutation SNP T C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr14:24675764T>C uc001wng.2 + 2 443 c.275T>C c.(274-276)ATT>ACT p.I92T TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.2_Missense_Mutation_p.I16T|TSSK4_uc001wnf.2_5'UTR|TSSK4_uc001wnh.2_Missense_Mutation_p.I92T NM_174944 NP_777604 Q6SA08 TSSK4_HUMAN testis-specific serine kinase 4 92 Protein kinase. cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity 0 GBM - Glioblastoma multiforme(265;0.018) TATCGGGCCATTGAGAGCACA 0.532 LTBP2 4053 broad.mit.edu 37 14 74969471 74969471 + Silent SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr14:74969471G>A uc001xqa.2 - 34 5442 c.5055C>T c.(5053-5055)ACC>ACT p.T1685T NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1685 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCTCAGGGACGGTGTCCTCGG 0.637 PROX2 283571 broad.mit.edu 37 14 75329549 75329549 + Missense_Mutation SNP G C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr14:75329549G>C uc001xqr.1 - 1 989 c.989C>G c.(988-990)GCA>GGA p.A330G PROX2_uc001xqq.1_Intron NM_001080408 NP_001073877 Q3B8N5 PROX2_HUMAN prospero homeobox 2 330 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GGGAAAGTTTGCTGGGGGATC 0.502 MESDC2 23184 broad.mit.edu 37 15 81282094 81282094 + Silent SNP C A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr15:81282094C>A uc002bfy.1 - 1 112 c.39G>T c.(37-39)CTG>CTT p.L13L MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA NM_015154 NP_055969 Q14696 MESD_HUMAN mesoderm development candidate 2 13 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum 0 AGGCACAAAGCAGGACCACGG 0.652 CPPED1 55313 broad.mit.edu 37 16 12875067 12875067 + Silent SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr16:12875067G>A uc002dca.3 - 2 375 c.264C>T c.(262-264)TGC>TGT p.C88C CPPED1_uc002dcb.3_Silent_p.C88C NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 88 hydrolase activity|metal ion binding 0 TGAGGTCGCCGCACAGAACGA 0.532 CIRH1A 84916 broad.mit.edu 37 16 69201051 69201051 + Missense_Mutation SNP G A A rs34057086 byFrequency TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr16:69201051G>A uc002ews.3 + 16 2003 c.1907G>A c.(1906-1908)CGC>CAC p.R636H CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.3_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.2_Missense_Mutation_p.R438H NM_032830 NP_116219 Q969X6 CIR1A_HUMAN cirhin 636 nucleolus protein binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.125) ATCCGGAGGCGCACAGCTCAT 0.348 MYH2 4620 broad.mit.edu 37 17 10430055 10430055 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr17:10430055G>A uc010coi.2 - 30 4176 c.4048C>T c.(4048-4050)CGG>TGG p.R1350W uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1350W|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1350 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TACTGTTCCCGCAGCAGGTCA 0.547 JMJD6 23210 broad.mit.edu 37 17 74721588 74721588 + Missense_Mutation SNP A G G TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr17:74721588A>G uc002jso.2 - 2 803 c.479T>C c.(478-480)CTT>CCT p.L160P JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|JMJD6_uc010dgz.2_Missense_Mutation_p.L160P|C17orf95_uc002jsp.2_5'Flank|C17orf95_uc002jsq.2_5'Flank|C17orf95_uc002jsr.2_5'Flank|C17orf95_uc002jss.2_5'Flank|C17orf95_uc002jst.2_5'Flank|C17orf95_uc002jsu.2_5'Flank NM_015167 NP_055982 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 isoform 2 160 JmjC. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding skin(2)|ovary(1) 3 ATACTGGAAAAGGTCATCAGT 0.383 PTPRM 5797 broad.mit.edu 37 18 7888281 7888281 + Missense_Mutation SNP T A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr18:7888281T>A uc002knn.3 + 3 877 c.374T>A c.(373-375)CTG>CAG p.L125Q PTPRM_uc010dkv.2_Missense_Mutation_p.L125Q NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 125 MAM.|Extracellular (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) AACGGGCCACTGGGGAATCCT 0.453 CTAGE1 64693 broad.mit.edu 37 18 19997860 19997860 + Translation_Start_Site SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr18:19997860G>A uc002ktv.1 - 1 19 c.-85C>T c.(-87--83)TACGG>TATGG NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) AGGCTCCTCCGTAGCGCCAAG 0.587 DCC 1630 broad.mit.edu 37 18 50734176 50734176 + Missense_Mutation SNP C G G TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr18:50734176C>G uc002lfe.1 + 11 2437 c.1850C>G c.(1849-1851)ACA>AGA p.T617R DCC_uc010xdr.1_Missense_Mutation_p.T465R|DCC_uc010dpf.1_Missense_Mutation_p.T272R NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 617 Extracellular (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ACAGTGGTTACACTTTCTGAC 0.338 MUC16 94025 broad.mit.edu 37 19 9067947 9067947 + Missense_Mutation SNP G C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr19:9067947G>C uc002mkp.2 - 3 19703 c.19499C>G c.(19498-19500)ACA>AGA p.T6500R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6502 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 GGGTGGGCTTGTCCCTGATAT 0.468 GAPDHS 26330 broad.mit.edu 37 19 36029512 36029512 + Nonsense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr19:36029512C>T uc002oaf.1 + 4 492 c.376C>T c.(376-378)CGA>TGA p.R126* NM_014364 NP_055179 O14556 G3PT_HUMAN glyceraldehyde-3-phosphate dehydrogenase, 126 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding 0 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) CACCCACGGCCGATACAAGGG 0.522 NLRP5 126206 broad.mit.edu 37 19 56539808 56539808 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr19:56539808C>T uc002qmj.2 + 7 2209 c.2209C>T c.(2209-2211)CGG>TGG p.R737W NLRP5_uc002qmi.2_Missense_Mutation_p.R718W NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 737 LRR 2. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCGGAAAATTCGGGTGGATGT 0.498 LOXL3 84695 broad.mit.edu 37 2 74779634 74779634 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr2:74779634C>T uc002smp.1 - 2 200 c.128G>A c.(127-129)CGG>CAG p.R43Q LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.2_Intron|DOK1_uc002sms.2_5'Flank|DOK1_uc010ffo.2_5'Flank|DOK1_uc002smt.2_5'Flank|DOK1_uc002smu.2_5'Flank|DOK1_uc010yrz.1_5'Flank|DOK1_uc002smv.2_5'Flank|DOK1_uc002smw.1_5'Flank NM_032603 NP_115992 P58215 LOXL3_HUMAN lysyl oxidase-like 3 precursor 43 extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity 0 CAGCCGGAACCGAAGCCCCTG 0.662 LONRF2 164832 broad.mit.edu 37 2 100916305 100916305 + Nonsense_Mutation SNP C A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr2:100916305C>A uc002tal.3 - 5 1781 c.1141G>T c.(1141-1143)GAA>TAA p.E381* LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 381 proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 TTATCCTCTTCAAAGTGTAGA 0.413 SLC20A1 6574 broad.mit.edu 37 2 113417335 113417335 + Missense_Mutation SNP G A A rs142437239 TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr2:113417335G>A uc002tib.2 + 8 2049 c.1603G>A c.(1603-1605)GTA>ATA p.V535I SLC20A1_uc002tic.1_Missense_Mutation_p.V347I NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 535 Extracellular (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 TGGCAATGACGTAAGGTCAGT 0.458 LRP1B 53353 broad.mit.edu 37 2 141072536 141072536 + Missense_Mutation SNP T C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr2:141072536T>C uc002tvj.1 - 83 13745 c.12773A>G c.(12772-12774)CAG>CGG p.Q4258R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4258 Extracellular (Potential).|EGF-like 11. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TCCTCCATTCTGGCAGTAGTT 0.373 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141072633 141072633 + Missense_Mutation SNP T C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr2:141072633T>C uc002tvj.1 - 83 13648 c.12676A>G c.(12676-12678)AGA>GGA p.R4226G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4226 Extracellular (Potential).|EGF-like 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AAAATGCATCTTCCTCCATTT 0.343 TSP Lung(27;0.18) LRP1B 53353 broad.mit.edu 37 2 141092130 141092130 + Splice_Site SNP T C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr2:141092130T>C uc002tvj.1 - 79 13089 c.12117_splice c.e79-1 p.G4039_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TACATCATCCTGAAGAGAGCG 0.358 TSP Lung(27;0.18) TMC2 117532 broad.mit.edu 37 20 2539347 2539347 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr20:2539347C>T uc002wgf.1 + 3 343 c.328C>T c.(328-330)CGG>TGG p.R110W TMC2_uc002wgg.1_Missense_Mutation_p.R94W|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN transmembrane cochlear-expressed protein 2 110 Arg/Asp/Glu/Lys-rich (highly charged).|Cytoplasmic (Potential). integral to membrane ovary(3) 3 CTTCCAGGAGCGGACAGCAGC 0.622 C20orf111 51526 broad.mit.edu 37 20 42826177 42826177 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr20:42826177C>T uc002xlk.2 - 4 531 c.394G>A c.(394-396)GGA>AGA p.G132R NM_016470 NP_057554 Q9NX31 CT111_HUMAN oxidative stress responsive 1 132 0 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) GAGCTTTCTCCTGCACTGAAC 0.498 PCK1 5105 broad.mit.edu 37 20 56138743 56138743 + Silent SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr20:56138743C>T uc002xyn.3 + 6 1084 c.921C>T c.(919-921)TGC>TGT p.C307C PCK1_uc010zzm.1_Intron NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 307 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) AGGTTGAGTGCGTCGGGGATG 0.567 C2CD2 25966 broad.mit.edu 37 21 43327136 43327136 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr21:43327136C>T uc002yzw.2 - 10 1525 c.1283G>A c.(1282-1284)CGC>CAC p.R428H C2CD2_uc002yzt.2_Missense_Mutation_p.R44H|C2CD2_uc002yzu.2_Missense_Mutation_p.R260H|C2CD2_uc002yzv.2_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H NM_015500 NP_056315 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 isoform 428 cytosol|extracellular region|nucleus ovary(1) 1 CACGTCGACGCGAGGCTTGGT 0.592 ABCG1 9619 broad.mit.edu 37 21 43711761 43711761 + Silent SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr21:43711761C>T uc002zaq.2 + 13 1790 c.1684C>T c.(1684-1686)CTG>TTG p.L562L ABCG1_uc002zan.2_Silent_p.L552L|ABCG1_uc002zam.2_Silent_p.L528L|ABCG1_uc002zao.2_Silent_p.L547L|ABCG1_uc002zap.2_Silent_p.L550L|ABCG1_uc002zar.2_Silent_p.L561L|ABCG1_uc011aev.1_Silent_p.L573L|ABCG1_uc010gpb.1_Missense_Mutation_p.P202L NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 562 ABC transmembrane type-2.|Cytoplasmic (Potential). amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity ovary(2)|central_nervous_system(1) 3 Adenosine triphosphate(DB00171) CTCCACGTCCCTGCAGGTGCC 0.677 ITGB2 3689 broad.mit.edu 37 21 46320283 46320283 + Silent SNP G A A rs35013643 by1000genomes TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr21:46320283G>A uc002zgd.2 - 6 893 c.849C>T c.(847-849)GAC>GAT p.D283D ITGB2_uc002zge.2_Silent_p.D283D|ITGB2_uc002zgf.3_Silent_p.D283D|ITGB2_uc011afl.1_Silent_p.D205D|ITGB2_uc010gpw.2_Silent_p.D226D|ITGB2_uc002zgg.2_Silent_p.D283D NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 283 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) GACAGCGGCCGTCGTTGGGGG 0.642 ITGB2 3689 broad.mit.edu 37 21 46320342 46320342 + Missense_Mutation SNP C A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr21:46320342C>A uc002zgd.2 - 6 834 c.790G>T c.(790-792)GAT>TAT p.D264Y ITGB2_uc002zge.2_Missense_Mutation_p.D264Y|ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y NM_001127491 NP_001120963 P05107 ITB2_HUMAN integrin, beta 2 precursor 264 Extracellular (Potential).|VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity ovary(4)|central_nervous_system(3)|breast(2) 9 Colorectal(79;0.0669) Simvastatin(DB00641) AAGCCGTCATCAGTGGCAAAC 0.627 INPP5J 27124 broad.mit.edu 37 22 31523945 31523945 + Missense_Mutation SNP T A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr22:31523945T>A uc003aju.3 + 7 1888 c.1796T>A c.(1795-1797)TTC>TAC p.F599Y INPP5J_uc003ajv.3_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.3_Missense_Mutation_p.F232Y|INPP5J_uc011alk.1_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.2_Missense_Mutation_p.F164Y|INPP5J_uc003ajw.2_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.3_Missense_Mutation_p.F231Y|INPP5J_uc003ajx.2_5'UTR|INPP5J_uc003ajy.2_5'UTR|INPP5J_uc003ajz.2_5'UTR NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 599 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 AGCCTCGTGTTCTGGTTCGGG 0.577 DEPDC5 9681 broad.mit.edu 37 22 32239728 32239728 + Nonsense_Mutation SNP G T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr22:32239728G>T uc003als.2 + 29 2846 c.2704G>T c.(2704-2706)GAA>TAA p.E902* DEPDC5_uc011als.1_Nonsense_Mutation_p.E833*|DEPDC5_uc011alu.1_Nonsense_Mutation_p.E911*|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Nonsense_Mutation_p.E902*|DEPDC5_uc003alu.2_Nonsense_Mutation_p.E351*|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.2_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.1_Intron|DEPDC5_uc010gwk.2_5'Flank NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 902 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 ATTCTCCCACGAACGGCTGGA 0.498 CHL1 10752 broad.mit.edu 37 3 439999 439999 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:439999C>T uc003bou.2 + 24 3407 c.3136C>T c.(3136-3138)CGC>TGC p.R1046C CHL1_uc003bot.2_Missense_Mutation_p.R1062C|CHL1_uc003bow.1_Missense_Mutation_p.R1046C|CHL1_uc011asi.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1046 Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) ACATATAGTTCGCCTAATGAC 0.388 NEK10 152110 broad.mit.edu 37 3 27233555 27233555 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:27233555C>T uc010hfk.2 - 5 635 c.406G>A c.(406-408)GTC>ATC p.V136I NEK10_uc003cds.1_Missense_Mutation_p.V221I|NEK10_uc010hfj.2_Missense_Mutation_p.V136I Q6ZWH5 NEK10_HUMAN RecName: Full=Serine/threonine-protein kinase Nek10; EC=2.7.11.1; AltName: Full=NimA-related protein kinase 10; 824 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(5)|stomach(2)|central_nervous_system(2)|lung(2)|skin(1)|pancreas(1) 13 TGACATGTGACGGTGTTCCGG 0.438 SCN11A 11280 broad.mit.edu 37 3 38951639 38951639 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:38951639G>A uc011ays.1 - 8 1218 c.1019C>T c.(1018-1020)ACG>ATG p.T340M NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 340 I. response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity p.T340T(1) skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTCAAAATTCGTATAATTATA 0.358 COL29A1 256076 broad.mit.edu 37 3 130187963 130187963 + Missense_Mutation SNP A T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:130187963A>T uc010htj.1 + 38 7609 c.7115A>T c.(7114-7116)CAT>CTT p.H2372L COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.H411L NM_153264 NP_694996 A8TX70 CO6A5_HUMAN collagen, type XXIX, alpha 1 2372 VWFA 10.|Nonhelical region. axon guidance|cell adhesion collagen 0 CAAATGAAACATCATCTCCAA 0.428 PLSCR1 5359 broad.mit.edu 37 3 146239654 146239654 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:146239654C>T uc003evx.3 - 6 930 c.542G>A c.(541-543)TGT>TAT p.C181Y PLSCR1_uc003evy.3_Missense_Mutation_p.C174Y|PLSCR1_uc011bnn.1_Missense_Mutation_p.C100Y|PLSCR1_uc003evz.3_Intron NM_021105 NP_066928 O15162 PLS1_HUMAN phospholipid scramblase 1 181 Cytoplasmic.|Cys-rich. phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding ovary(2) 2 ACAGCTGCTACATCTTAGTGG 0.438 SI 6476 broad.mit.edu 37 3 164700076 164700076 + Silent SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:164700076G>A uc003fei.2 - 47 5432 c.5370C>T c.(5368-5370)AAC>AAT p.N1790N NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1790 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTTTATTTCCGTTATACGTTA 0.348 HNSCC(35;0.089) PIK3CA 5290 broad.mit.edu 37 3 178916851 178916853 + In_Frame_Del DEL GAA - - TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:178916851_178916853delGAA uc003fjk.2 + 2 395_397 c.238_240delGAA c.(238-240)GAAdel p.E81del NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 81 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E81K(2) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGCAGAAAGGGAAGAATTTTTTG 0.365 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) TMEM207 131920 broad.mit.edu 37 3 190147491 190147491 + Missense_Mutation SNP C G G TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr3:190147491C>G uc003fsj.2 - 5 401 c.334G>C c.(334-336)GGA>CGA p.G112R NM_207316 NP_997199 Q6UWW9 TM207_HUMAN transmembrane protein 207 precursor 112 integral to membrane 0 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.0176) AGGTGAATTCCAACAGTTGGA 0.428 CPEB2 132864 broad.mit.edu 37 4 15005738 15005739 + In_Frame_Ins INS - GCG GCG TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr4:15005738_15005739insGCG uc003gni.1 + 1 217_218 c.130_131insGCG c.(130-132)AGC>AGCGGC p.50_51insG uc003gng.3_5'Flank|uc003gnh.1_5'Flank|CPEB2_uc003gnj.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnk.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnl.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnm.1_In_Frame_Ins_p.50_51insG|CPEB2_uc003gnn.1_In_Frame_Ins_p.50_51insG NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 50_51 Pro-rich. regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 CGTTCCGACGAgcggcggcggc 0.545 CCDC158 339965 broad.mit.edu 37 4 77305567 77305567 + Nonsense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr4:77305567G>A uc003hkb.3 - 5 553 c.400C>T c.(400-402)CGA>TGA p.R134* CCDC158_uc003hkd.2_Nonsense_Mutation_p.R134* NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 134 Potential. skin(3)|ovary(2)|pancreas(1) 6 CTCTCCCTTCGTCTATGAAAT 0.313 HEATR7B2 133558 broad.mit.edu 37 5 41051102 41051102 + Missense_Mutation SNP G T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr5:41051102G>T uc003jmj.3 - 13 1811 c.1321C>A c.(1321-1323)CCA>ACA p.P441T HEATR7B2_uc003jmi.3_5'UTR NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 441 HEAT 5. binding ovary(6)|central_nervous_system(2) 8 ATGACCAGTGGGTCCAGGGTT 0.408 SNX24 28966 broad.mit.edu 37 5 122281829 122281829 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr5:122281829G>A uc011cwo.1 + 3 393 c.224G>A c.(223-225)CGA>CAA p.R75Q SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.2_Missense_Mutation_p.R75Q NM_014035 NP_054754 Q9Y343 SNX24_HUMAN SBBI31 protein 75 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding 0 Prostate(80;0.0387) KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137) OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139) GAACAGCGACGACAAGGCTTG 0.348 SLC25A2 83884 broad.mit.edu 37 5 140682773 140682773 + Silent SNP T C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr5:140682773T>C uc003ljf.2 - 1 840 c.660A>G c.(658-660)GGA>GGG p.G220G NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 220 Solcar 3.|Helical; Name=5; (Potential). mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) ACAGGCAAATTCCAGCAACTC 0.443 G3BP1 10146 broad.mit.edu 37 5 151170550 151170550 + Missense_Mutation SNP A G G TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr5:151170550A>G uc003lun.2 + 4 449 c.278A>G c.(277-279)CAG>CGG p.Q93R G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.2_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 93 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) GTGGTAGTCCAGGTGATGGGG 0.453 MDC1 9656 broad.mit.edu 37 6 30671524 30671524 + Missense_Mutation SNP C G G TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr6:30671524C>G uc003nrg.3 - 10 5876 c.5436G>C c.(5434-5436)AAG>AAC p.K1812N MDC1_uc003nrf.3_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1812 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 CTAAAGACCTCTTGCGGCTTT 0.498 Other_conserved_DNA_damage_response_genes KIAA1586 57691 broad.mit.edu 37 6 56918065 56918065 + Missense_Mutation SNP A C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr6:56918065A>C uc003pdj.2 + 4 938 c.768A>C c.(766-768)TTA>TTC p.L256F KIAA1586_uc011dxm.1_Missense_Mutation_p.L229F NM_020931 NP_065982 Q9HCI6 K1586_HUMAN hypothetical protein LOC57691 256 nucleic acid binding 0 Lung NSC(77;0.0969) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TTTACAGTTTAGTAAAACATA 0.279 KCNQ5 56479 broad.mit.edu 37 6 73904449 73904449 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr6:73904449C>T uc003pgk.2 + 14 2458 c.2111C>T c.(2110-2112)GCG>GTG p.A704V KCNQ5_uc011dyh.1_Missense_Mutation_p.A723V|KCNQ5_uc011dyi.1_Missense_Mutation_p.A714V|KCNQ5_uc010kat.2_Missense_Mutation_p.A695V|KCNQ5_uc011dyj.1_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.1_Missense_Mutation_p.A454V NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 704 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) ACTTTCTACGCGCTTAGCCCT 0.488 IMPG1 3617 broad.mit.edu 37 6 76751736 76751736 + Nonsense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr6:76751736G>A uc003pik.1 - 2 305 c.175C>T c.(175-177)CGA>TGA p.R59* NM_001563 NP_001554 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 59 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TCGAATATTCGTCTCATAGTT 0.363 NOX3 50508 broad.mit.edu 37 6 155776184 155776184 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr6:155776184G>A uc003qqm.2 - 2 231 c.128C>T c.(127-129)ACA>ATA p.T43I NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 43 Extracellular (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) AATAACTCGTGTGTAATGGAA 0.343 EGFR 1956 broad.mit.edu 37 7 55238894 55238894 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:55238894G>A uc003tqk.2 + 16 2153 c.1907G>A c.(1906-1908)TGT>TAT p.C636Y EGFR_uc010kzg.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.1_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_RNA|EGFR_uc011kcq.1_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 636 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.C636Y(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CTTGAAGGCTGTCCAACGAAT 0.423 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) NSUN5P2 260294 broad.mit.edu 37 7 72419558 72419558 + Nonsense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:72419558G>A uc003twn.2 - 9 1178 c.466C>T c.(466-468)CGA>TGA p.R156* POM121_uc010lam.1_3'UTR|NSUN5P2_uc003twl.2_Intron|NSUN5P2_uc003twm.2_Intron|NSUN5P2_uc003two.2_Nonsense_Mutation_p.R156*|NSUN5P2_uc003twq.2_Silent_p.S158S|NSUN5P2_uc010lan.1_Nonsense_Mutation_p.R28*|NSUN5P2_uc003twp.2_Nonsense_Mutation_p.R156* NM_032158 NP_115534 NOL1/NOP2/Sun domain family, member 5C isoform 0 CACAGGGCTCGCTGCTGGAAC 0.622 CCL24 6369 broad.mit.edu 37 7 75442963 75442963 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:75442963G>A uc011kga.1 - 1 71 c.71C>T c.(70-72)ACG>ATG p.T24M NM_002991 NP_002982 O00175 CCL24_HUMAN small inducible cytokine A24 precursor 24 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity 0 GGTCTTACCCGTAGGGATGAT 0.612 HGF 3082 broad.mit.edu 37 7 81331979 81331979 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:81331979C>T uc003uhl.2 - 18 2270 c.2105G>A c.(2104-2106)CGT>CAT p.R702H HGF_uc003uhm.2_Missense_Mutation_p.R697H NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 702 Peptidase S1. 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 AATACCAGGACGATTTGGAAT 0.403 ZNF804B 219578 broad.mit.edu 37 7 88963595 88963595 + Silent SNP C A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:88963595C>A uc011khi.1 + 4 1837 c.1299C>A c.(1297-1299)ACC>ACA p.T433T NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 433 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAGCATGTACCCATAATGTGG 0.373 HNSCC(36;0.09) COL1A2 1278 broad.mit.edu 37 7 94055328 94055328 + Missense_Mutation SNP G C C TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:94055328G>C uc003ung.1 + 45 3433 c.2962G>C c.(2962-2964)GGT>CGT p.G988R COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 988 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TGGTCCTGTTGGTCCTGCTGG 0.478 HNSCC(75;0.22) SLC26A3 1811 broad.mit.edu 37 7 107434196 107434196 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:107434196C>T uc003ver.2 - 3 473 c.262G>A c.(262-264)GTA>ATA p.V88I SLC26A3_uc003ves.2_Missense_Mutation_p.V53I NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 88 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 ccttGTAGTACGGCCACAATC 0.254 SPAM1 6677 broad.mit.edu 37 7 123595133 123595133 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:123595133G>A uc003vld.2 + 5 1439 c.1037G>A c.(1036-1038)CGA>CAA p.R346Q SPAM1_uc003vle.2_Missense_Mutation_p.R346Q|SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vlf.3_Missense_Mutation_p.R346Q|SPAM1_uc010lku.2_Missense_Mutation_p.R346Q NM_153189 NP_694859 P38567 HYALP_HUMAN sperm adhesion molecule 1 isoform 2 346 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity ovary(3)|kidney(1) 4 Hyaluronidase(DB00070) AGTATAATGCGAAGTATGGTA 0.294 SVOPL 136306 broad.mit.edu 37 7 138310791 138310791 + Missense_Mutation SNP C T T rs144549446 TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr7:138310791C>T uc011kqh.1 - 12 1186 c.1186G>A c.(1186-1188)GGC>AGC p.G396S SVOPL_uc003vue.2_Missense_Mutation_p.G244S NM_001139456 NP_001132928 Q8N434 SVOPL_HUMAN SVOP-like isoform 1 396 Helical; (Potential). integral to membrane transmembrane transporter activity 0 CCAATCAGGCCGGCACTAGAA 0.507 RIMS2 9699 broad.mit.edu 37 8 105001550 105001550 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr8:105001550G>A uc003yls.2 + 15 2520 c.2279G>A c.(2278-2280)GGG>GAG p.G760E RIMS2_uc003ylp.2_Missense_Mutation_p.G982E|RIMS2_uc003ylw.2_Missense_Mutation_p.G774E|RIMS2_uc003ylq.2_Missense_Mutation_p.G774E|RIMS2_uc003ylr.2_Missense_Mutation_p.G821E NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1044 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTGGAACAGGGGCTTCGAGGG 0.398 HNSCC(12;0.0054) CSMD3 114788 broad.mit.edu 37 8 114290824 114290824 + Missense_Mutation SNP C T T TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr8:114290824C>T uc003ynu.2 - 3 670 c.511G>A c.(511-513)GAA>AAA p.E171K CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 171 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CACTTACCTTCGTAATATACC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) IFNA21 3452 broad.mit.edu 37 9 21166247 21166247 + Missense_Mutation SNP C G G TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr9:21166247C>G uc003zom.2 - 1 413 c.365G>C c.(364-366)TGC>TCC p.C122S NM_002175 NP_002166 P01568 IFN21_HUMAN interferon, alpha 21 precursor 122 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CTGTATCACGCAGGCTTCCAG 0.463 S1PR3 1903 broad.mit.edu 37 9 91616623 91616623 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr9:91616623G>A uc004aqe.2 + 2 904 c.508G>A c.(508-510)GCC>ACC p.A170T NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 170 Helical; Name=4; (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity p.A170A(1) ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 CACGCTGGGCGCCCTGCCCAT 0.557 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) SURF4 6836 broad.mit.edu 37 9 136230519 136230519 + Silent SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr9:136230519G>A uc004cdj.2 - 6 790 c.660C>T c.(658-660)AAC>AAT p.N220N SURF4_uc011mda.1_Silent_p.N211N|SURF4_uc010nal.2_3'UTR|SURF4_uc011mdb.1_Silent_p.N177N|SURF4_uc011mdc.1_Silent_p.N177N|SURF4_uc011mdd.1_3'UTR NM_033161 NP_149351 O15260 SURF4_HUMAN surfeit 4 220 Helical; (Potential). endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05) TCCAGAAGGCGTTGAAATATA 0.488 LCN1 3933 broad.mit.edu 37 9 138415760 138415760 + Silent SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chr9:138415760G>A uc004cfz.1 + 4 385 c.327G>A c.(325-327)TCG>TCA p.S109S LCN1_uc004cga.1_Silent_p.S109S NM_002297 NP_002288 P31025 LCN1_HUMAN lipocalin 1 precursor 109 proteolysis|response to stimulus|sensory perception of taste extracellular region cysteine-type endopeptidase inhibitor activity|transporter activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155) TCATCAGGTCGCACGTGAAGG 0.602 MAGEB1 4112 broad.mit.edu 37 X 30269614 30269614 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chrX:30269614G>A uc004dcc.2 + 4 1324 c.1004G>A c.(1003-1005)CGT>CAT p.R335H MAGEB1_uc004dcd.2_Missense_Mutation_p.R335H|MAGEB1_uc004dce.2_Missense_Mutation_p.R335H NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 335 0 TTTAGAGCGCGTTCTAGAGCC 0.507 GRIA3 2892 broad.mit.edu 37 X 122460032 122460032 + Missense_Mutation SNP G A A TCGA-15-0742-01A-01W-0348-08 TCGA-15-0742-10A-01W-0348-08 Somatic Phase_I Capture Illumina GAIIx 3c015456-02f0-4473-be25-b53166da41ea 141031c5-2359-4c57-8982-a1ea3c57d411 g.chrX:122460032G>A uc004etq.3 + 5 957 c.664G>A c.(664-666)GAA>AAA p.E222K GRIA3_uc004etr.3_Missense_Mutation_p.E222K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.E206K NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 222 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) GATTGACTGCGAAGTCGAAAG 0.423