Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter KIF1B 23095 broad.mit.edu 37 1 10425162 10425162 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:10425162G>A uc001aqx.3 + 42 4573 c.4371G>A c.(4369-4371)ATG>ATA p.M1457I KIF1B_uc001aqw.3_Missense_Mutation_p.M1411I|KIF1B_uc001aqy.2_Missense_Mutation_p.M1431I|KIF1B_uc001aqz.2_Missense_Mutation_p.M1457I|KIF1B_uc001ara.2_Missense_Mutation_p.M1417I|KIF1B_uc001arb.2_Missense_Mutation_p.M1443I NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1457 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) TCTTAGGTATGCAGAGAAGGA 0.373 26 39 --- --- --- --- PASS CASZ1 54897 broad.mit.edu 37 1 10716794 10716794 + Splice_Site SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:10716794C>G uc001aro.2 - 8 1730 c.1410_splice c.e8-1 p.R470_splice CASZ1_uc001arp.1_Splice_Site_p.R470_splice|CASZ1_uc009vmx.2_Splice_Site_p.R494_splice NM_001079843 NP_001073312 Q86V15 CASZ1_HUMAN castor homolog 1, zinc finger isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding skin(1) 1 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) GCCCGAGAACCTGGAGGGAGG 0.532 3 4 --- --- --- --- PASS MTOR 2475 broad.mit.edu 37 1 11297936 11297936 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:11297936G>A uc001asd.2 - 13 2293 c.2172C>T c.(2170-2172)GCC>GCT p.A724A NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 724 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 GCATGACAAAGGCAGGGTTCA 0.557 27 44 --- --- --- --- PASS CLCN6 1185 broad.mit.edu 37 1 11898493 11898493 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:11898493G>A uc001ate.3 + 21 2510 c.2397G>A c.(2395-2397)ATG>ATA p.M799I CLCN6_uc010oat.1_Missense_Mutation_p.M515I|CLCN6_uc010oau.1_Missense_Mutation_p.M777I|CLCN6_uc010oav.1_5'Flank|CLCN6_uc010oaw.1_5'Flank|CLCN6_uc010oax.1_5'Flank|CLCN6_uc010oay.1_5'Flank|CLCN6_uc010oaz.1_5'Flank|CLCN6_uc010oba.1_5'Flank NM_001286 NP_001277 P51797 CLCN6_HUMAN chloride channel 6 isoform ClC-6a 799 Cytoplasmic (By similarity). cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity 0 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) ACCCGCGCATGATCGTGGTGA 0.657 OREG0013104 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 25 --- --- --- --- PASS PRAMEF10 343071 broad.mit.edu 37 1 12955401 12955401 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:12955401A>G uc001auo.2 - 2 351 c.278T>C c.(277-279)GTT>GCT p.V93A NM_001039361 NP_001034450 O60809 PRA10_HUMAN PRAME family member 10 93 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTGGGGCGAACCTTCTGGGC 0.607 12 6 --- --- --- --- PASS SLC25A34 284723 broad.mit.edu 37 1 16065173 16065173 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:16065173G>T uc001axb.1 + 4 854 c.682G>T c.(682-684)GAT>TAT p.D228Y SLC25A34_uc009vok.1_5'Flank NM_207348 NP_997231 Q6PIV7 S2534_HUMAN solute carrier family 25, member 34 228 Solcar 3. transport integral to membrane|mitochondrial inner membrane 0 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACTCCCTTCGATGTGGTCAG 0.652 16 39 --- --- --- --- PASS RUNX3 864 broad.mit.edu 37 1 25229099 25229099 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:25229099C>A uc001bjq.2 - 5 1173 c.762G>T c.(760-762)ACG>ACT p.T254T RUNX3_uc010oen.1_Silent_p.T201T|RUNX3_uc009vrj.2_Silent_p.T268T|RUNX3_uc001bjr.2_Silent_p.T268T|RUNX3_uc001bjs.2_RNA NM_004350 NP_004341 Q13761 RUNX3_HUMAN runt-related transcription factor 3 isoform 2 254 Pro/Ser/Thr-rich. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GGGTTGGCAGCGTGGGGAAGG 0.642 3 125 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34076683 34076683 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:34076683C>T uc001bxn.1 - 41 6210 c.6181G>A c.(6181-6183)GAC>AAC p.D2061N CSMD2_uc001bxm.1_Missense_Mutation_p.D2101N|CSMD2_uc001bxo.1_Missense_Mutation_p.D974N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2061 CUB 12.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGGGAGTGGTCGCTGTGGAAA 0.567 16 14 --- --- --- --- PASS SLC1A7 6512 broad.mit.edu 37 1 53555558 53555558 + Silent SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:53555558G>C uc001cuy.2 - 9 1443 c.1275C>G c.(1273-1275)GCC>GCG p.A425A SLC1A7_uc001cux.2_Silent_p.A78A NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 425 Helical; (Potential). integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) TGACGAGGCCGGCCTGGGGGA 0.627 28 49 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037105 75037105 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:75037105C>A uc001dgg.2 - 14 4508 c.4289G>T c.(4288-4290)GGG>GTG p.G1430V NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1430 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AGTGCCCACCCCAGCCTCTGT 0.607 50 145 --- --- --- --- PASS FAM73A 374986 broad.mit.edu 37 1 78268972 78268972 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:78268972A>G uc001dhx.2 + 4 423 c.391A>G c.(391-393)AGC>GGC p.S131G FAM73A_uc010ork.1_Missense_Mutation_p.S131G|FAM73A_uc010orl.1_Missense_Mutation_p.S93G|FAM73A_uc001dhy.1_5'UTR NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 131 integral to membrane ovary(1) 1 Colorectal(170;0.226) TTGTTCCAGTAGCAGACAGAA 0.284 6 101 --- --- --- --- PASS CD53 963 broad.mit.edu 37 1 111435128 111435128 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:111435128C>A uc001dzw.2 + 4 396 c.225C>A c.(223-225)ATC>ATA p.I75I CD53_uc001dzx.2_Silent_p.I75I|CD53_uc010owa.1_Silent_p.I75I|CD53_uc001dzy.2_Silent_p.I75I NM_001040033 NP_001035122 P19397 CD53_HUMAN CD53 antigen 75 Cytoplasmic (Potential). signal transduction integral to membrane|plasma membrane 0 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) TGGGCTCTATCAAGGAAAACA 0.517 5 243 --- --- --- --- PASS GJA8 2703 broad.mit.edu 37 1 147380119 147380119 + Nonsense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:147380119G>T uc001epu.1 + 2 100 c.37G>T c.(37-39)GAG>TAG p.E13* NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 13 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CATCTTGGAGGAGGTGAATGA 0.577 34 111 --- --- --- --- PASS NES 10763 broad.mit.edu 37 1 156639573 156639573 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:156639573C>G uc001fpq.2 - 4 4540 c.4407G>C c.(4405-4407)TGG>TGC p.W1469C NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1469 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGCTGTCATCCCAGGGGACAC 0.612 30 35 --- --- --- --- PASS OR6K3 391114 broad.mit.edu 37 1 158687756 158687756 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:158687756C>G uc010pip.1 - 1 198 c.198G>C c.(196-198)AGG>AGC p.R66S NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 66 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GGGTGTCCAGCCTTACAGCAG 0.398 114 200 --- --- --- --- PASS SLAMF6 114836 broad.mit.edu 37 1 160466051 160466051 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:160466051G>T uc001fwe.1 - 2 242 c.182C>A c.(181-183)TCT>TAT p.S61Y SLAMF6_uc001fwd.1_Missense_Mutation_p.S61Y|SLAMF6_uc010pjh.1_Intron|SLAMF6_uc010pji.1_Intron|SLAMF6_uc010pjj.1_Intron|SLAMF6_uc009wtm.1_Intron NM_052931 NP_443163 Q96DU3 SLAF6_HUMAN activating NK receptor precursor 61 Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(1)|skin(1) 2 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) GAAGGCAAGAGATGTTTCATT 0.478 145 220 --- --- --- --- PASS NOS1AP 9722 broad.mit.edu 37 1 162302887 162302887 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:162302887G>C uc001gbv.2 + 5 812 c.425G>C c.(424-426)AGG>ACG p.R142T NOS1AP_uc010pkr.1_Missense_Mutation_p.R137T|NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.R137T NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 142 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AATATCTTCAGGTGTAACGTC 0.448 49 74 --- --- --- --- PASS SELP 6403 broad.mit.edu 37 1 169586442 169586442 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:169586442G>A uc001ggi.3 - 3 370 c.305C>T c.(304-306)ACA>ATA p.T102I SELP_uc001ggh.2_5'UTR|SELP_uc009wvr.2_Missense_Mutation_p.T102I NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 102 Extracellular (Potential).|C-type lectin. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TCCCACCCATGTCCATGTCTT 0.443 172 228 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175375773 175375773 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:175375773G>C uc001gkp.1 - 1 159 c.78C>G c.(76-78)ATC>ATG p.I26M TNR_uc009wwu.1_Missense_Mutation_p.I26M|TNR_uc010pmz.1_Missense_Mutation_p.I26M NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 26 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) CTGAAGGCTTGATCATGGAGC 0.532 116 166 --- --- --- --- PASS RNASEL 6041 broad.mit.edu 37 1 182544550 182544550 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:182544550C>A uc001gpj.1 - 6 2370 c.2203G>T c.(2203-2205)GGG>TGG p.G735W RNASEL_uc009wxz.1_Missense_Mutation_p.G735W NM_021133 NP_066956 Q05823 RN5A_HUMAN ribonuclease L 735 mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding ovary(4)|stomach(1) 5 CTGGCCAACCCACTGGCCCCA 0.383 Hereditary_Prostate_Cancer 63 141 --- --- --- --- PASS SMG7 9887 broad.mit.edu 37 1 183498558 183498558 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:183498558G>C uc001gqg.2 + 8 855 c.733G>C c.(733-735)GGT>CGT p.G245R SMG7_uc010pob.1_Missense_Mutation_p.G274R|SMG7_uc001gqf.2_Missense_Mutation_p.G245R|SMG7_uc001gqh.2_Missense_Mutation_p.G245R|SMG7_uc001gqi.2_Missense_Mutation_p.G203R|SMG7_uc010poc.1_Missense_Mutation_p.G203R NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 245 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 AACCAAGTGGGGTGTTTCTGA 0.418 9 201 --- --- --- --- PASS UCHL5 51377 broad.mit.edu 37 1 193018982 193018982 + Splice_Site SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:193018982C>A uc001gsm.2 - 3 272 c.141_splice c.e3-1 p.K47_splice UCHL5_uc001gsn.2_Splice_Site|UCHL5_uc001gso.2_Splice_Site_p.K47_splice|UCHL5_uc010pov.1_Splice_Site|UCHL5_uc001gsp.2_Splice_Site_p.K47_splice|UCHL5_uc001gsq.2_Splice_Site_p.K47_splice|UCHL5_uc010pow.1_Splice_Site|UCHL5_uc010pox.1_Intron NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 ATGAACTGGCCTACAAAATAA 0.343 23 49 --- --- --- --- PASS CAMK1G 57172 broad.mit.edu 37 1 209786165 209786165 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:209786165C>G uc001hhd.2 + 12 1478 c.1376C>G c.(1375-1377)GCC>GGC p.A459G CAMK1G_uc001hhe.2_Missense_Mutation_p.A459G NM_020439 NP_065172 Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 459 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CCAGTTAAAGCCAGTGGCAGC 0.507 23 64 --- --- --- --- PASS SYT14 255928 broad.mit.edu 37 1 210126103 210126103 + Splice_Site SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:210126103T>A uc009xcv.2 + 2 133 c.61_splice c.e2+2 p.V21_splice SYT14_uc001hhs.3_Splice_Site_p.K25_splice|SYT14_uc001hht.3_Splice_Site_p.V21_splice|SYT14_uc001hhu.3_Splice_Site|SYT14_uc010psn.1_Splice_Site_p.K25_splice|SYT14_uc010pso.1_Splice_Site NM_153262 NP_694994 Q8NB59 SYT14_HUMAN synaptotagmin XIV isoform 4 integral to membrane ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.085) TTAGAAAAGGTAAGTCATTGC 0.318 9 108 --- --- --- --- PASS EPRS 2058 broad.mit.edu 37 1 220153444 220153444 + Missense_Mutation SNP T G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:220153444T>G uc001hly.1 - 26 3964 c.3694A>C c.(3694-3696)AGT>CGT p.S1232R NM_004446 NP_004437 P07814 SYEP_HUMAN glutamyl-prolyl tRNA synthetase 1232 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCTCTTCCACTAGCAGATATA 0.408 22 357 --- --- --- --- PASS C1orf65 164127 broad.mit.edu 37 1 223568525 223568525 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:223568525C>A uc001hoa.2 + 1 1811 c.1708C>A c.(1708-1710)CAG>AAG p.Q570K NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 570 Potential. central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) GAAAAAGGAGCAGAGGGTGCA 0.532 19 51 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243504391 243504391 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:243504391G>A uc001hzw.2 + 11 1428 c.1272G>A c.(1270-1272)AAG>AAA p.K424K SDCCAG8_uc010pyk.1_Silent_p.K279K|SDCCAG8_uc010pyl.1_Silent_p.K236K|SDCCAG8_uc001hzx.2_Silent_p.K236K NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 424 Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AGGTGGAAAAGGTTACAAAGG 0.383 65 101 --- --- --- --- PASS ALLC 55821 broad.mit.edu 37 2 3743381 3743381 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:3743381G>T uc010ewt.2 + 8 747 c.586G>T c.(586-588)GCA>TCA p.A196S ALLC_uc002qyf.2_5'UTR NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN allantoicase isoform a 215 allantoicase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CAAAGAACCTGCAGACCTAGT 0.433 HNSCC(21;0.051) 25 36 --- --- --- --- PASS PPM1G 5496 broad.mit.edu 37 2 27607803 27607803 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:27607803C>A uc002rkl.2 - 6 669 c.562G>T c.(562-564)GGG>TGG p.G188W PPM1G_uc002rkm.2_Intron NM_002707 NP_002698 O15355 PPM1G_HUMAN protein phosphatase 1G 188 cell cycle arrest|protein dephosphorylation cytoplasm|nucleus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) CCTGCCTCCCCATTGAGGCCC 0.592 81 130 --- --- --- --- PASS C2orf71 388939 broad.mit.edu 37 2 29296801 29296801 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:29296801G>T uc002rmt.1 - 1 327 c.327C>A c.(325-327)CAC>CAA p.H109Q NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 109 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 CCTTAGCCATGTGGCTTTGTG 0.468 117 163 --- --- --- --- PASS MSH6 2956 broad.mit.edu 37 2 48026011 48026011 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:48026011G>A uc002rwd.3 + 4 1041 c.889G>A c.(889-891)GCT>ACT p.A297T MSH6_uc002rwc.2_Missense_Mutation_p.A297T|MSH6_uc010fbj.2_5'UTR|MSH6_uc010yoi.1_Missense_Mutation_p.A167T|MSH6_uc010yoj.1_5'UTR NM_000179 NP_000170 P52701 MSH6_HUMAN mutS homolog 6 297 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding large_intestine(53)|central_nervous_system(28)|endometrium(28)|stomach(22)|haematopoietic_and_lymphoid_tissue(9)|lung(7)|skin(6)|urinary_tract(5)|breast(5)|ovary(3)|thyroid(1)|upper_aerodigestive_tract(1) 168 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TGTCAAAGTTGCTCGAAAGCG 0.478 Mis|N|F|S colorectal colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 105 160 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48915454 48915454 + Silent SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:48915454A>G uc002rwu.3 - 11 1552 c.1482T>C c.(1480-1482)TCT>TCC p.S494S GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 494 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) CAATTAGAGAAGAAAAGAGCC 0.443 Familial_Male-Limited_Precocious_Puberty 53 79 --- --- --- --- PASS RTN4 57142 broad.mit.edu 37 2 55253585 55253585 + Silent SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:55253585C>G uc002rye.2 - 3 1948 c.1650G>C c.(1648-1650)CTG>CTC p.L550L RTN4_uc002ryd.2_Silent_p.L344L|RTN4_uc002ryf.2_Intron|RTN4_uc002ryg.2_Intron NM_020532 NP_065393 Q9NQC3 RTN4_HUMAN reticulon 4 isoform A 550 Cytoplasmic (Potential). apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane protein binding ovary(2)|large_intestine(1) 3 AATCTGGAGTCAGGCCTTCAG 0.393 80 124 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746748 77746748 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:77746748C>A uc002snr.2 - 3 662 c.247G>T c.(247-249)GGC>TGC p.G83C LRRTM4_uc002snq.2_Missense_Mutation_p.G83C|LRRTM4_uc002sns.2_Missense_Mutation_p.G83C|LRRTM4_uc002snt.2_Missense_Mutation_p.G84C NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 83 LRR 1.|Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TGGTTAAGGCCGGCAAACTGA 0.403 50 98 --- --- --- --- PASS IMMT 10989 broad.mit.edu 37 2 86378604 86378604 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:86378604G>C uc002sqz.3 - 12 1605 c.1217C>G c.(1216-1218)GCT>GGT p.A406G IMMT_uc002sqy.3_Missense_Mutation_p.A147G|IMMT_uc002srb.3_Missense_Mutation_p.A395G|IMMT_uc002sra.3_Missense_Mutation_p.A405G|IMMT_uc010ytd.1_Missense_Mutation_p.A394G|IMMT_uc010yte.1_Missense_Mutation_p.A359G|IMMT_uc002src.1_Missense_Mutation_p.A142G NM_006839 NP_006830 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial isoform 1 406 Mitochondrial intermembrane (Potential). integral to mitochondrial inner membrane protein binding skin(1) 1 ATGTGCATGAGCAATGAGGGA 0.428 6 105 --- --- --- --- PASS GPR17 2840 broad.mit.edu 37 2 128408686 128408686 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:128408686G>A uc010yzn.1 + 4 1072 c.461G>A c.(460-462)AGC>AAC p.S154N LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.S154N|GPR17_uc010yzo.1_Missense_Mutation_p.S126N|GPR17_uc002tpd.2_Missense_Mutation_p.S126N NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 154 Helical; Name=3; (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) ACCTGCATCAGCGCCGACCGT 0.602 50 81 --- --- --- --- PASS ARHGEF4 50649 broad.mit.edu 37 2 131688620 131688620 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:131688620C>A uc002tsa.1 + 3 610 c.90C>A c.(88-90)TTC>TTA p.F30L ARHGEF4_uc010fmw.1_Missense_Mutation_p.F676L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.F30L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.F30L|ARHGEF4_uc002trz.1_Missense_Mutation_p.F676L NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 30 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) AGCCCTGCTTCACCACTGACA 0.612 35 54 --- --- --- --- PASS THSD7B 80731 broad.mit.edu 37 2 138163301 138163301 + Silent SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:138163301C>G uc002tva.1 + 12 2526 c.2526C>G c.(2524-2526)ACC>ACG p.T842T THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.2_Silent_p.T732T NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AAGACTGCACCTTCACTGCTT 0.498 10 31 --- --- --- --- PASS SCN3A 6328 broad.mit.edu 37 2 165994574 165994574 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:165994574C>T uc002ucx.2 - 15 2698 c.2206G>A c.(2206-2208)GTG>ATG p.V736M SCN3A_uc002ucy.2_Missense_Mutation_p.V687M|SCN3A_uc002ucz.2_Missense_Mutation_p.V687M|SCN3A_uc002uda.1_Missense_Mutation_p.V556M|SCN3A_uc002udb.1_Missense_Mutation_p.V556M NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 736 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) ATCAAGAACACATTGGCAAAT 0.363 37 72 --- --- --- --- PASS CHRNA1 1134 broad.mit.edu 37 2 175624353 175624353 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:175624353C>A uc002ujd.2 - 2 130 c.52G>T c.(52-54)GTC>TTC p.V18F uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V18F|CHRNA1_uc002ujf.3_Missense_Mutation_p.V18F NM_001039523 NP_001034612 P02708 ACHA_HUMAN nicotinic cholinergic receptor alpha 1 isoform a 18 muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity ovary(2)|central_nervous_system(1)|skin(1) 4 GAGCCCAGGACGAGGCCAGCT 0.557 68 75 --- --- --- --- PASS HOXD3 3232 broad.mit.edu 37 2 177036984 177036984 + Silent SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:177036984C>G uc002ukt.1 + 3 1457 c.1281C>G c.(1279-1281)CCC>CCG p.P427P NM_006898 NP_008829 P31249 HXD3_HUMAN homeobox D3 427 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) CGGAGGCTCCCAAACTGACGC 0.632 9 20 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179604027 179604027 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:179604027G>T uc010zfh.1 - 46 13644 c.13420C>A c.(13420-13422)CCT>ACT p.P4474T TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.P4407T|TTN_uc010zfj.1_Missense_Mutation_p.P4282T|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCATCTGAAGGCACCAGTTTA 0.368 38 55 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179621084 179621084 + Nonsense_Mutation SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:179621084T>A uc010zfh.1 - 44 10830 c.10606A>T c.(10606-10608)AAA>TAA p.K3536* TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 3550 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTGATTGTTTCAGTCTCTCG 0.403 56 105 --- --- --- --- PASS MYL1 4632 broad.mit.edu 37 2 211159113 211159113 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:211159113G>T uc002vec.2 - 4 463 c.334C>A c.(334-336)CAA>AAA p.Q112K MYL1_uc002veb.2_Missense_Mutation_p.Q68K NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 112 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GGCAGAAATTGTTCAAACTCA 0.398 48 65 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211447371 211447371 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:211447371G>T uc002vee.3 + 6 691 c.559G>T c.(559-561)GGT>TGT p.G187C CPS1_uc010fur.2_Missense_Mutation_p.G193C NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 187 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGAATTTGAAGGTCAGCCTGT 0.348 56 142 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216257885 216257885 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:216257885C>T uc002vfa.2 - 25 4104 c.3838G>A c.(3838-3840)GAT>AAT p.D1280N FN1_uc002vfb.2_Intron|FN1_uc002vfc.2_Intron|FN1_uc002vfd.2_Missense_Mutation_p.D1280N|FN1_uc002vfe.2_Intron|FN1_uc002vff.2_Intron|FN1_uc002vfg.2_Intron|FN1_uc002vfh.2_Intron|FN1_uc002vfi.2_Missense_Mutation_p.D1280N|FN1_uc002vfj.2_Missense_Mutation_p.D1280N|FN1_uc002vez.2_5'Flank|FN1_uc010zjp.1_5'UTR NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 1280 Fibronectin type-III 8.|Cell-attachment. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1) 13 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATGCTTGAATCGGTTATATCA 0.468 30 79 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228881925 228881925 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:228881925G>C uc002vpq.2 - 7 3692 c.3645C>G c.(3643-3645)AGC>AGG p.S1215R SPHKAP_uc002vpp.2_Missense_Mutation_p.S1215R|SPHKAP_uc010zlx.1_Missense_Mutation_p.S1215R NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 1215 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) AATCCTGGCTGCTCCGTCTGG 0.577 61 74 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230643658 230643658 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:230643658G>C uc002vpw.1 - 34 5027 c.4918C>G c.(4918-4920)CAG>GAG p.Q1640E TRIP12_uc002vpx.1_Missense_Mutation_p.Q1688E|TRIP12_uc002vpy.1_Missense_Mutation_p.Q1370E NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1640 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGTAGTTCCTGAGATACAAGC 0.393 17 313 --- --- --- --- PASS AQP12A 375318 broad.mit.edu 37 2 241631533 241631533 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:241631533G>T uc002vzu.2 + 2 235 c.166G>T c.(166-168)GGG>TGG p.G56W AQP12A_uc002vzv.2_Intron NM_198998 NP_945349 Q8IXF9 AQ12A_HUMAN aquaporin 12A 56 Helical; Name=2; (Potential). integral to membrane transporter activity 0 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) TGGGGACTTTGGGCCTGACCT 0.692 22 9 --- --- --- --- PASS AQP12A 375318 broad.mit.edu 37 2 241631534 241631534 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:241631534G>T uc002vzu.2 + 2 236 c.167G>T c.(166-168)GGG>GTG p.G56V AQP12A_uc002vzv.2_Intron NM_198998 NP_945349 Q8IXF9 AQ12A_HUMAN aquaporin 12A 56 Helical; Name=2; (Potential). integral to membrane transporter activity 0 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GGGGACTTTGGGCCTGACCTG 0.692 22 9 --- --- --- --- PASS ATG7 10533 broad.mit.edu 37 3 11468349 11468349 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:11468349A>T uc003bwc.2 + 18 2145 c.2028A>T c.(2026-2028)TTA>TTT p.L676F ATG7_uc003bwd.2_Missense_Mutation_p.L649F|ATG7_uc011aum.1_Intron NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 676 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 ATTCCTTCTTAGAAGACTTGA 0.358 35 30 --- --- --- --- PASS SLC22A14 9389 broad.mit.edu 37 3 38357879 38357879 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:38357879A>G uc010hhc.1 + 10 1639 c.1597A>G c.(1597-1599)ATC>GTC p.I533V SLC22A14_uc003cib.2_Missense_Mutation_p.I533V|SLC22A14_uc011ayo.1_RNA NM_004803 NP_004794 Q9Y267 S22AE_HUMAN organic cation transporter like 4 533 Helical; (Potential). integral to plasma membrane organic cation transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CCTGACAATCATCAGCCAGAC 0.617 27 11 --- --- --- --- PASS PLXNB1 5364 broad.mit.edu 37 3 48450817 48450817 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:48450817C>G uc003csw.2 - 34 6277 c.6007G>C c.(6007-6009)GAT>CAT p.D2003H PLXNB1_uc003cst.2_Missense_Mutation_p.D453H|PLXNB1_uc003csu.2_Missense_Mutation_p.D1820H|PLXNB1_uc003csx.2_Missense_Mutation_p.D2003H NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 2003 Cytoplasmic (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TCCATGTTATCAGATGTTTGC 0.552 79 33 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 97467485 97467485 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:97467485C>G uc010how.1 + 18 3376 c.3333C>G c.(3331-3333)AGC>AGG p.S1111R NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 1016 SAM.|Cytoplasmic (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GAATAGTCAGCAGCATACAGA 0.333 14 47 --- --- --- --- PASS ABI3BP 25890 broad.mit.edu 37 3 100472662 100472662 + Splice_Site SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:100472662C>A uc003dun.2 - 32 2912 c.2827_splice c.e32+1 p.A943_splice ABI3BP_uc003duj.2_Splice_Site_p.A523_splice|ABI3BP_uc003duk.2_Splice_Site_p.A652_splice|ABI3BP_uc003dul.2_Splice_Site_p.A773_splice|ABI3BP_uc011bhd.1_Splice_Site_p.A897_splice|ABI3BP_uc003dum.2_Splice_Site_p.A354_splice NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 CAGGTACTTACCAGAAACTGG 0.423 14 32 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 100962934 100962934 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:100962934C>A uc003duq.1 - 13 2444 c.2241G>T c.(2239-2241)ATG>ATT p.M747I IMPG2_uc011bhe.1_Missense_Mutation_p.M610I NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 747 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TAATTTGTTCCATATCCTCCC 0.403 14 295 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108224623 108224623 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:108224623C>A uc003dxa.1 - 3 259 c.202G>T c.(202-204)GTA>TTA p.V68L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 68 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTCCCTTTTACCTCAGCCTCG 0.358 87 287 --- --- --- --- PASS HSPBAP1 79663 broad.mit.edu 37 3 122487665 122487665 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:122487665G>A uc003efu.1 - 3 438 c.315C>T c.(313-315)AAC>AAT p.N105N HSPBAP1_uc003efv.1_Silent_p.N105N NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 105 Interaction with HSPB1 (By similarity). cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) ACTGGTCACAGTTCCAGGTCA 0.363 3 115 --- --- --- --- PASS OSBPL11 114885 broad.mit.edu 37 3 125313525 125313525 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:125313525G>T uc003eic.2 - 1 857 c.120C>A c.(118-120)AGC>AGA p.S40R NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 40 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 tgctgctgctgctactgattc 0.388 63 32 --- --- --- --- PASS GATA2 2624 broad.mit.edu 37 3 128205181 128205181 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:128205181G>C uc003ekm.3 - 4 695 c.260C>G c.(259-261)CCA>CGA p.P87R GATA2_uc003ekn.3_Missense_Mutation_p.P87R|GATA2_uc003eko.2_Missense_Mutation_p.P87R|uc003ekp.2_5'Flank NM_001145661 NP_001139133 P23769 GATA2_HUMAN GATA binding protein 2 isoform 1 87 blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter nucleoplasm C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding haematopoietic_and_lymphoid_tissue(13)|lung(1)|skin(1) 15 GBM - Glioblastoma multiforme(114;0.173) CAACAAGTGTGGGCGGCACAT 0.677 Mis AML(CML blast transformation) 2 6 --- --- --- --- PASS IFT122 55764 broad.mit.edu 37 3 129238477 129238477 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:129238477G>C uc003emm.2 + 29 3744 c.3538G>C c.(3538-3540)GAT>CAT p.D1180H IFT122_uc003eml.2_Missense_Mutation_p.D1231H|IFT122_uc003emn.2_Missense_Mutation_p.D1121H|IFT122_uc003emo.2_Missense_Mutation_p.D1070H|IFT122_uc003emp.2_Missense_Mutation_p.D1030H|IFT122_uc010htc.2_Missense_Mutation_p.D1173H|IFT122_uc011bky.1_Missense_Mutation_p.D971H|IFT122_uc003emq.2_Missense_Mutation_p.D1020H|IFT122_uc003emr.2_Missense_Mutation_p.D933H|IFT122_uc011bla.1_Missense_Mutation_p.D954H|IFT122_uc010hte.2_Missense_Mutation_p.D506H|IFT122_uc003ems.2_Missense_Mutation_p.D562H NM_052989 NP_443715 Q9HBG6 IF122_HUMAN WD repeat domain 10 isoform 2 1180 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium ovary(1)|skin(1) 2 GAGCCGCCGGGATGTCCTCAT 0.642 17 91 --- --- --- --- PASS PIK3CB 5291 broad.mit.edu 37 3 138382872 138382872 + Splice_Site SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:138382872C>T uc011bmq.1 - 19 2673 c.2673_splice c.e19-1 p.G891_splice PIK3CB_uc011bmn.1_Splice_Site_p.G403_splice|PIK3CB_uc011bmo.1_Splice_Site_p.G342_splice|PIK3CB_uc011bmp.1_Splice_Site_p.G478_splice NM_006219 NP_006210 P42338 PK3CB_HUMAN catalytic phosphatidylinositol 3-kinase beta 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 CAGGTCATCCCTGAACAAGAG 0.453 4 101 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 139894792 139894792 + Splice_Site SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:139894792G>T uc003etn.2 + 2 300 c.110_splice c.e2-1 p.V37_splice CLSTN2_uc003etm.2_Splice_Site_p.V37_splice NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TTATTTTCTAGTCAATAAGCA 0.333 HNSCC(16;0.037) 44 121 --- --- --- --- PASS C3orf58 205428 broad.mit.edu 37 3 143691762 143691762 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:143691762C>T uc003evo.2 + 1 1123 c.588C>T c.(586-588)AAC>AAT p.N196N C3orf58_uc011bnl.1_5'Flank NM_173552 NP_775823 Q8NDZ4 CC058_HUMAN hypothetical protein LOC205428 isoform a 196 COPI vesicle coat|extracellular region ovary(1) 1 TGCTTCGCAACCTCAAGGACT 0.692 6 3 --- --- --- --- PASS DHX36 170506 broad.mit.edu 37 3 154024045 154024045 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:154024045C>A uc003ezy.3 - 6 934 c.853G>T c.(853-855)GGC>TGC p.G285C DHX36_uc010hvq.2_Missense_Mutation_p.G285C|DHX36_uc003ezz.3_Missense_Mutation_p.G285C NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 285 Helicase ATP-binding. cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding skin(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TTACCACTGCCACAAGATTCT 0.348 49 162 --- --- --- --- PASS ZBBX 79740 broad.mit.edu 37 3 167045879 167045879 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:167045879G>T uc003fep.2 - 11 1036 c.713C>A c.(712-714)GCA>GAA p.A238E ZBBX_uc011bpc.1_Missense_Mutation_p.A238E|ZBBX_uc003feq.2_Missense_Mutation_p.A209E NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 238 intracellular zinc ion binding ovary(2) 2 TGTACGTTGTGCTCTTTTCAT 0.338 7 306 --- --- --- --- PASS RTP2 344892 broad.mit.edu 37 3 187416661 187416661 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:187416661C>A uc003fro.1 - 2 732 c.303G>T c.(301-303)ACG>ACT p.T101T NM_001004312 NP_001004312 Q5QGT7 RTP2_HUMAN receptor transporting protein 2 101 Cytoplasmic (Potential). protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding 0 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CCAGCCGCGCCGTGCCGCACT 0.647 16 33 --- --- --- --- PASS ATP13A5 344905 broad.mit.edu 37 3 193039528 193039528 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr3:193039528G>C uc011bsq.1 - 16 1857 c.1857C>G c.(1855-1857)TTC>TTG p.F619L NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 619 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TGTAGACATGGAAATGATTCT 0.458 4 186 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22749311 22749311 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:22749311G>C uc003gqp.3 + 3 770 c.679G>C c.(679-681)GTC>CTC p.V227L GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.V228L NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 227 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 ACTTTTTGCGGTCTGGTTGGA 0.423 9 285 --- --- --- --- PASS TMEM156 80008 broad.mit.edu 37 4 38972693 38972693 + Silent SNP T C C rs148909241 byFrequency TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:38972693T>C uc003gto.2 - 6 996 c.888A>G c.(886-888)CTA>CTG p.L296L TMEM156_uc010ifj.2_Silent_p.L295L NM_024943 NP_079219 Q8N614 TM156_HUMAN transmembrane protein 156 296 Cytoplasmic (Potential). integral to membrane skin(1) 1 AAGTAACTTATAGTTCTGGAA 0.403 6 105 --- --- --- --- PASS RBM47 54502 broad.mit.edu 37 4 40440165 40440165 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:40440165T>C uc003gvc.2 - 4 1456 c.746A>G c.(745-747)TAC>TGC p.Y249C RBM47_uc003gvd.2_Missense_Mutation_p.Y249C|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.Y211C|RBM47_uc003gvg.1_Missense_Mutation_p.Y249C NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 249 RRM 3. nucleus nucleotide binding|RNA binding breast(3) 3 GTTGCGCACGTAGAGGATCTT 0.622 59 110 --- --- --- --- PASS KCTD8 386617 broad.mit.edu 37 4 44177019 44177019 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:44177019G>T uc003gwu.2 - 2 1494 c.1210C>A c.(1210-1212)CCA>ACA p.P404T NM_198353 NP_938167 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerisation domain 404 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(2)|ovary(1) 3 CGTTTGTCTGGTGGGGGTATC 0.483 HNSCC(17;0.042) 159 259 --- --- --- --- PASS GABRA2 2555 broad.mit.edu 37 4 46388199 46388199 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:46388199G>T uc003gxc.3 - 2 752 c.79C>A c.(79-81)CTG>ATG p.L27M GABRA2_uc010igc.2_Missense_Mutation_p.L27M|GABRA2_uc011bzc.1_Translation_Start_Site|GABRA2_uc003gxe.2_Missense_Mutation_p.L27M|GABRA2_uc010igd.1_Missense_Mutation_p.L27M NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 27 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATGTTAGCCAGCACCAACCTA 0.343 20 39 --- --- --- --- PASS KDR 3791 broad.mit.edu 37 4 55962494 55962494 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:55962494C>A uc003has.2 - 19 2932 c.2630G>T c.(2629-2631)AGT>ATT p.S877I KDR_uc003hat.1_Missense_Mutation_p.S877I NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 877 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TCGATGCTCACTGTGTGTTGC 0.463 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 58 103 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91229477 91229477 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:91229477G>T uc003hsv.3 + 2 382 c.42G>T c.(40-42)CGG>CGT p.R14R FAM190A_uc003hsu.3_Silent_p.R14R|FAM190A_uc010ikv.2_RNA|FAM190A_uc003hsw.2_Silent_p.R14R NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 14 Ser-rich. large_intestine(1)|ovary(1) 2 TGGTCTCCCGGTTGCCAATAT 0.453 18 6 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94690580 94690580 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr4:94690580C>A uc011cdt.1 + 15 2838 c.2580C>A c.(2578-2580)GGC>GGA p.G860G GRID2_uc011cdu.1_Silent_p.G765G NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 860 Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGAGGAAAGGCTCCCGGGTTC 0.488 38 22 --- --- --- --- PASS LPCAT1 79888 broad.mit.edu 37 5 1463865 1463865 + Silent SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:1463865T>C uc003jcm.2 - 14 1623 c.1506A>G c.(1504-1506)GCA>GCG p.A502A LPCAT1_uc003jcl.2_Silent_p.A76A NM_024830 NP_079106 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 502 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) GTGAGGTCTCTGCACAGCTTT 0.537 45 198 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747261 19747261 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:19747261C>A uc003jgc.2 - 3 690 c.313G>T c.(313-315)GAT>TAT p.D105Y CDH18_uc003jgd.2_Missense_Mutation_p.D105Y|CDH18_uc011cnm.1_Missense_Mutation_p.D105Y NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 105 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCCGTGGTATCGTCAATGATA 0.438 66 140 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19747262 19747262 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:19747262G>C uc003jgc.2 - 3 689 c.312C>G c.(310-312)GAC>GAG p.D104E CDH18_uc003jgd.2_Missense_Mutation_p.D104E|CDH18_uc011cnm.1_Missense_Mutation_p.D104E NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 104 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCGTGGTATCGTCAATGATAA 0.438 68 141 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24593426 24593426 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:24593426C>A uc003jgr.1 - 2 506 c.174G>T c.(172-174)TGG>TGT p.W58C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 58 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AAAATTGATTCCACATCCAAC 0.388 HNSCC(23;0.051) 69 240 --- --- --- --- PASS PCSK1 5122 broad.mit.edu 37 5 95751805 95751805 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:95751805C>G uc003kls.1 - 6 847 c.641G>C c.(640-642)GGA>GCA p.G214A NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 214 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGCAATTTCTCCTGCACATCT 0.383 7 87 --- --- --- --- PASS FBN2 2201 broad.mit.edu 37 5 127680126 127680126 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:127680126G>C uc003kuu.2 - 25 3733 c.3294C>G c.(3292-3294)TGC>TGG p.C1098W FBN2_uc003kuv.2_Missense_Mutation_p.C1065W NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1098 EGF-like 15; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TATTGCAACGGCATTTGAAGC 0.413 81 37 --- --- --- --- PASS PCDHA1 56147 broad.mit.edu 37 5 140167445 140167445 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:140167445G>T uc003lhb.2 + 1 1570 c.1570G>T c.(1570-1572)GAC>TAC p.D524Y PCDHA1_uc003lha.2_Missense_Mutation_p.D524Y|PCDHA1_uc003lgz.2_Missense_Mutation_p.D524Y NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 524 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCCCCTGGACCACGAGGA 0.677 39 8 --- --- --- --- PASS PCDHB8 56128 broad.mit.edu 37 5 140558611 140558611 + Nonsense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:140558611C>A uc011dai.1 + 1 1182 c.996C>A c.(994-996)TGC>TGA p.C332* PCDHB16_uc003liv.2_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 332 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGGAAAATGCACCGTTCTGA 0.438 8 161 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140725487 140725487 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:140725487G>A uc003ljm.1 + 1 1887 c.1887G>A c.(1885-1887)GCG>GCA p.A629A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Silent_p.A389A|PCDHGA3_uc011dap.1_Silent_p.A629A NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 629 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGCACGGCGCGAGCCCTGC 0.701 21 14 --- --- --- --- PASS PCDHGB2 56103 broad.mit.edu 37 5 140741626 140741626 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:140741626C>A uc003ljs.1 + 1 1924 c.1924C>A c.(1924-1926)CTG>ATG p.L642M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.L642M|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 642 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGCCAGCGCCTGCTGGTCGC 0.687 11 1 --- --- --- --- PASS PCDHGB5 56101 broad.mit.edu 37 5 140779598 140779598 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:140779598G>C uc003lkf.1 + 1 1904 c.1904G>C c.(1903-1905)CGC>CCC p.R635P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R635P|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCGGCCCGCCAGCGCCTG 0.687 26 8 --- --- --- --- PASS FBXO38 81545 broad.mit.edu 37 5 147821650 147821650 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:147821650G>T uc003lpf.1 + 22 3627 c.3507G>T c.(3505-3507)GTG>GTT p.V1169V FBXO38_uc003lpg.1_Silent_p.V1094V|FBXO38_uc003lph.2_Silent_p.V924V NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 1169 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCGAGTAGTGGCAATTTTTA 0.418 13 132 --- --- --- --- PASS ADRB2 154 broad.mit.edu 37 5 148207106 148207106 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:148207106G>A uc003lpr.1 + 1 951 c.712G>A c.(712-714)GGC>AGC p.G238S SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 238 Cytoplasmic. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) CAAATCTGAGGGCCGCTTCCA 0.552 35 21 --- --- --- --- PASS CSF1R 1436 broad.mit.edu 37 5 149465950 149465950 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:149465950G>T uc003lrl.2 - 1 236 c.41C>A c.(40-42)GCT>GAT p.A14D CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.A14D|CSF1R_uc011dce.1_Missense_Mutation_p.A14D|CSF1R_uc011dcf.1_Missense_Mutation_p.A14D NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 14 cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) ACCATGCCAAGCTGTGGCCAC 0.627 6 2 --- --- --- --- PASS ADAM19 8728 broad.mit.edu 37 5 156947033 156947033 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:156947033C>T uc003lwz.2 - 6 478 c.414G>A c.(412-414)CTG>CTA p.L138L ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_Silent_p.L69L NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 138 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCACCGTAATCAGTCCTCTGT 0.473 7 78 --- --- --- --- PASS FGF18 8817 broad.mit.edu 37 5 170883546 170883546 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:170883546G>T uc003mbk.2 + 5 898 c.361G>T c.(361-363)GAT>TAT p.D121Y NM_003862 NP_003853 O76093 FGF18_HUMAN fibroblast growth factor 18 precursor 121 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation extracellular space|nucleolus growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CCTGCAGCCCGATGGCACCAG 0.368 53 20 --- --- --- --- PASS HRH2 3274 broad.mit.edu 37 5 175110623 175110623 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:175110623G>T uc003mdd.2 + 1 2160 c.387G>T c.(385-387)CTG>CTT p.L129L HRH2_uc003mdc.3_Silent_p.L129L NM_022304 NP_071640 P25021 HRH2_HUMAN histamine receptor H2 isoform 2 129 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity ovary(1) 1 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) ACCCTGTGCTGGTCACCCCAG 0.557 31 15 --- --- --- --- PASS ZNF454 285676 broad.mit.edu 37 5 178392042 178392042 + Nonsense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:178392042G>T uc003mjo.1 + 5 908 c.637G>T c.(637-639)GAG>TAG p.E213* ZNF454_uc010jkz.1_Nonsense_Mutation_p.E213* NM_182594 NP_872400 Q8N9F8 ZN454_HUMAN zinc finger protein 454 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) TCATATTAAGGAGAAAAGATA 0.353 50 30 --- --- --- --- PASS BTNL9 153579 broad.mit.edu 37 5 180477308 180477308 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr5:180477308G>A uc003mmt.2 + 4 906 c.675G>A c.(673-675)GTG>GTA p.V225V BTNL9_uc011dhi.1_Silent_p.V156V NM_152547 NP_689760 Q6UXG8 BTNL9_HUMAN butyrophilin-like 9 precursor 225 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1) 2 all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCAGCAATGTGTCCGTCTCCA 0.547 52 25 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 6 9933028 9933028 + RNA SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:9933028C>A uc003myg.1 - 2 c.219G>T uc010jog.1_Missense_Mutation_p.R52S|uc003myh.1_Missense_Mutation_p.R77S|uc003myj.1_Missense_Mutation_p.R77S|uc003myk.1_RNA|uc003myn.2_Missense_Mutation_p.R77S|uc010joi.1_Missense_Mutation_p.R145S|uc010joh.1_RNA|uc011dif.1_Missense_Mutation_p.R77S|uc011dig.1_Missense_Mutation_p.R77S Homo sapiens clone 958LR MRDS1 protein (MRDS1) mRNA, complete cds. AGGCTGGCAGCCTGAATTTTT 0.488 82 191 --- --- --- --- PASS PSMB8 5696 broad.mit.edu 37 6 32810867 32810867 + Splice_Site SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:32810867C>A uc003oce.2 - 2 191 c.148_splice c.e2-1 p.P50_splice PSMB8_uc003ocf.2_Splice_Site_p.P46_splice|PSMB8_uc011dqh.1_Intron NM_148919 NP_683720 P28062 PSB8_HUMAN proteasome beta 8 subunit isoform E2 proprotein anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity skin(1) 1 ATTCTGTGGGCTGATAAGAGA 0.488 25 60 --- --- --- --- PASS MDGA1 266727 broad.mit.edu 37 6 37614074 37614074 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:37614074C>T uc003onu.1 - 11 3303 c.2124G>A c.(2122-2124)CTG>CTA p.L708L MDGA1_uc003onv.1_5'UTR NM_153487 NP_705691 Q8NFP4 MDGA1_HUMAN MAM domain containing 708 Fibronectin type-III. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2) 2 GGAGATCGGTCAGGATGTACT 0.592 6 12 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40400339 40400339 + Missense_Mutation SNP T G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:40400339T>G uc003oph.1 - 2 979 c.514A>C c.(514-516)ATG>CTG p.M172L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 172 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGTTGACCATGCGTCGCACG 0.592 5 114 --- --- --- --- PASS LRFN2 57497 broad.mit.edu 37 6 40400484 40400484 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:40400484C>A uc003oph.1 - 2 834 c.369G>T c.(367-369)CTG>CTT p.L123L NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 123 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAGGTTGACCAGGCCCCGGA 0.582 21 45 --- --- --- --- PASS CUL7 9820 broad.mit.edu 37 6 43020080 43020080 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:43020080G>T uc003otq.2 - 2 750 c.447C>A c.(445-447)AGC>AGA p.S149R CUL7_uc011dvb.1_Missense_Mutation_p.S201R|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 149 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GGGGCTCAATGCTGGCATAGG 0.562 5 98 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46803046 46803046 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:46803046G>T uc010jzh.1 + 13 1886 c.1844G>T c.(1843-1845)GGC>GTC p.G615V MEP1A_uc011dwg.1_Missense_Mutation_p.G337V|MEP1A_uc011dwh.1_Missense_Mutation_p.G643V|MEP1A_uc011dwi.1_Missense_Mutation_p.G515V NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 615 Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) AGCCCCCAAGGCCTCATTCTC 0.547 19 8 --- --- --- --- PASS GSTA1 2938 broad.mit.edu 37 6 52658956 52658956 + Missense_Mutation SNP T G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:52658956T>G uc003paz.2 - 5 493 c.381A>C c.(379-381)AAA>AAC p.K127N NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 127 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) GATTTTTTATTTTCTCTTTGA 0.418 15 648 --- --- --- --- PASS TPBG 7162 broad.mit.edu 37 6 83075380 83075380 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:83075380C>T uc003pjn.3 + 3 1638 c.702C>T c.(700-702)CCC>CCT p.P234P TPBG_uc010kbj.2_Silent_p.P234P|TPBG_uc003pjo.2_Silent_p.P234P NM_006670 NP_006661 Q13641 TPBG_HUMAN trophoblast glycoprotein precursor 234 Extracellular (Potential). cell adhesion integral to plasma membrane central_nervous_system(1) 1 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) CCCAACTGCCCAGCCTCAGGC 0.622 38 107 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84895046 84895046 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:84895046C>T uc010kbp.2 - 13 1619 c.1522G>A c.(1522-1524)GCG>ACG p.A508T KIAA1009_uc003pkj.3_Missense_Mutation_p.A432T|KIAA1009_uc003pkk.2_Missense_Mutation_p.A508T|KIAA1009_uc003pki.3_5'UTR NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 508 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) CTAACTGACGCATATAATCCA 0.413 82 228 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102124587 102124587 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:102124587G>A uc003pqp.3 + 4 880 c.631G>A c.(631-633)GCA>ACA p.A211T GRIK2_uc003pqn.2_Missense_Mutation_p.A211T|GRIK2_uc003pqo.3_Missense_Mutation_p.A211T|GRIK2_uc010kcw.2_Missense_Mutation_p.A211T NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 211 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TACAAAGGATGCAAAACCCTT 0.368 36 66 --- --- --- --- PASS LATS1 9113 broad.mit.edu 37 6 150004707 150004707 + Silent SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:150004707T>C uc003qmu.1 - 4 2066 c.1518A>G c.(1516-1518)CCA>CCG p.P506P LATS1_uc010kif.1_Silent_p.P401P|LATS1_uc003qmv.1_Silent_p.P506P|LATS1_uc003qmw.2_Silent_p.P506P|LATS1_uc010kig.1_Silent_p.P401P NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 506 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TCTGTAGCTCTGGTTTTAATA 0.453 81 197 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152451874 152451874 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:152451874C>T uc010kiw.2 - 145 26736 c.26134G>A c.(26134-26136)GTC>ATC p.V8712I SYNE1_uc010kiv.2_Missense_Mutation_p.V3236I|SYNE1_uc003qos.3_Missense_Mutation_p.V3236I|SYNE1_uc003qot.3_Missense_Mutation_p.V8664I|SYNE1_uc003qou.3_Missense_Mutation_p.V8712I|SYNE1_uc003qop.3_Missense_Mutation_p.V897I|SYNE1_uc011eez.1_Intron|SYNE1_uc003qoq.3_Intron|SYNE1_uc003qor.3_Intron NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8712 Ser-rich.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGACTGCTGACAGAGGGTCCA 0.468 HNSCC(10;0.0054) 7 40 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152737884 152737884 + Silent SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:152737884A>G uc010kiw.2 - 41 6290 c.5688T>C c.(5686-5688)AGT>AGC p.S1896S SYNE1_uc003qot.3_Silent_p.S1903S|SYNE1_uc003qou.3_Silent_p.S1896S|SYNE1_uc010kjb.1_Silent_p.S1879S NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1896 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTTATTCATACTGTTGGTTG 0.488 HNSCC(10;0.0054) 67 66 --- --- --- --- PASS PARK2 5071 broad.mit.edu 37 6 161969928 161969928 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr6:161969928C>A uc003qtx.3 - 9 1175 c.1041G>T c.(1039-1041)CAG>CAT p.Q347H PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Missense_Mutation_p.Q156H|PARK2_uc003qtw.3_Missense_Mutation_p.Q156H|PARK2_uc003qty.3_Missense_Mutation_p.Q319H|PARK2_uc003qtz.3_Missense_Mutation_p.Q198H|PARK2_uc010kke.1_Missense_Mutation_p.Q366H|PARK2_uc011egf.1_Missense_Mutation_p.Q21H NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 347 IBR-type. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TGACTTTCCTCTGGTCAGGCT 0.632 103 94 --- --- --- --- PASS GPNMB 10457 broad.mit.edu 37 7 23296615 23296615 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:23296615G>C uc003swc.2 + 4 633 c.472G>C c.(472-474)GAT>CAT p.D158H GPNMB_uc003swa.2_Missense_Mutation_p.D158H|GPNMB_uc003swb.2_Missense_Mutation_p.D158H|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.D59H NM_001005340 NP_001005340 Q14956 GPNMB_HUMAN glycoprotein (transmembrane) nmb isoform a 158 Extracellular (Potential). negative regulation of cell proliferation melanosome ovary(3)|breast(2) 5 GBM - Glioblastoma multiforme(13;0.154) CGTCTTCCCTGATGGGAAACC 0.483 64 43 --- --- --- --- PASS HOXA3 3200 broad.mit.edu 37 7 27147774 27147774 + Silent SNP G A A rs140908739 TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:27147774G>A uc011jzl.1 - 3 1292 c.1092C>T c.(1090-1092)CCC>CCT p.P364P HOXA3_uc011jzk.1_Silent_p.P206P|HOXA3_uc003syk.2_Silent_p.P364P NM_030661 NP_109377 O43365 HXA3_HUMAN homeobox A3 isoform a 364 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2) 2 CCACGAAGACGGGGCTTCCCT 0.682 9 4 --- --- --- --- PASS C7orf10 79783 broad.mit.edu 37 7 40220565 40220565 + Silent SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:40220565A>G uc003thn.1 + 2 165 c.120A>G c.(118-120)CCA>CCG p.P40P C7orf10_uc003thm.1_Silent_p.P47P|C7orf10_uc003tho.1_Silent_p.P40P NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 47 transferase activity ovary(2) 2 ATATAAAGCCATTGGAAGGGG 0.294 14 188 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43484986 43484986 + Nonsense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:43484986G>T uc003tid.1 + 11 2820 c.2215G>T c.(2215-2217)GAG>TAG p.E739* HECW1_uc011kbi.1_Nonsense_Mutation_p.E739* NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 739 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 GCAAGACGACGAGGAGGAGGA 0.642 6 66 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48684351 48684351 + Splice_Site SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:48684351G>A uc003toq.2 + 61 15106 c.15081_splice c.e61+1 p.Q5027_splice ABCA13_uc010kys.1_Splice_Site_p.Q2102_splice|ABCA13_uc010kyu.1_Splice_Site_p.Q757_splice NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTTGGAGCAGGTATAGTATCT 0.343 9 143 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57187718 57187718 + Missense_Mutation SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:57187718T>A uc010kzo.2 - 5 1675 c.1404A>T c.(1402-1404)GAA>GAT p.E468D NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 468 C2H2-type 11. 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) TGCCACATTCTTCACATGTGT 0.423 7 97 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98506430 98506430 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:98506430G>A uc003upp.2 + 14 1404 c.1195G>A c.(1195-1197)GTC>ATC p.V399I TRRAP_uc011kis.1_Missense_Mutation_p.V399I|TRRAP_uc003upr.2_Missense_Mutation_p.V91I NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 399 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CTCCCTCGCCGTCCAGCTCTT 0.647 7 11 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100676069 100676069 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:100676069C>A uc003uxp.1 + 3 1425 c.1372C>A c.(1372-1374)CCT>ACT p.P458T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 458 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|5. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACAAGTATGCCTGTCAGCAC 0.498 169 213 --- --- --- --- PASS MOGAT3 346606 broad.mit.edu 37 7 100839548 100839548 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:100839548G>T uc003uyc.2 - 6 958 c.791C>A c.(790-792)CCT>CAT p.P264H MOGAT3_uc010lhr.2_Intron NM_178176 NP_835470 Q86VF5 MOGT3_HUMAN monoacylglycerol O-acyltransferase 3 264 glycerol metabolic process|lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity ovary(2) 2 Lung NSC(181;0.168)|all_lung(186;0.215) GAAGATGCAAGGAGAGAAGCC 0.582 11 16 --- --- --- --- PASS NAMPT 10135 broad.mit.edu 37 7 105893560 105893560 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:105893560T>C uc003vdq.2 - 10 1576 c.1268A>G c.(1267-1269)AAA>AGA p.K423R NM_005746 NP_005737 P43490 NAMPT_HUMAN nicotinamide phosphoribosyltransferase 423 cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process cytosol cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity large_intestine(1) 1 TTTGGACCTTTTGTTGGGATC 0.403 37 72 --- --- --- --- PASS MET 4233 broad.mit.edu 37 7 116411551 116411551 + Splice_Site SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:116411551G>C uc003vij.2 + 13 2918 c.2731_splice c.e13-1 p.W911_splice MET_uc010lkh.2_Splice_Site_p.W929_splice|MET_uc011knj.1_Splice_Site_p.W481_splice NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) GTCATTTTTAGTGGAAGCAAG 0.368 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 84 159 --- --- --- --- PASS LMOD2 442721 broad.mit.edu 37 7 123296224 123296224 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:123296224G>T uc003vky.2 + 1 364 c.207G>T c.(205-207)CTG>CTT p.L69L NM_207163 NP_997046 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 69 Glu-rich. cytoskeleton actin binding|tropomyosin binding 0 GAGAGGCACTGATGGCCTATT 0.532 12 12 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141765143 141765143 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:141765143A>T uc003vwy.2 + 38 4547 c.4493A>T c.(4492-4494)CAG>CTG p.Q1498L NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1498 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) AGAGCCGTGCAGGAGGTGACG 0.607 5 9 --- --- --- --- PASS OR2A5 393046 broad.mit.edu 37 7 143747699 143747699 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:143747699G>C uc011ktw.1 + 1 205 c.205G>C c.(205-207)GAT>CAT p.D69H NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) GGCCATCATTGATATTTCGTA 0.498 84 120 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149418508 149418508 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:149418508G>T uc003wfz.2 + 5 747 c.348G>T c.(346-348)CTG>CTT p.L116L KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 116 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TCCGAGGCCTGCTCAGCTGCC 0.627 4 15 --- --- --- --- PASS GALNTL5 168391 broad.mit.edu 37 7 151711789 151711789 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:151711789A>G uc003wkp.2 + 8 1310 c.1087A>G c.(1087-1089)AAG>GAG p.K363E GALNTL5_uc003wkq.2_Missense_Mutation_p.K114E|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.K252E NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 363 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) ACATATCAGTAAGAAACAAAC 0.408 66 115 --- --- --- --- PASS DLC1 10395 broad.mit.edu 37 8 12947973 12947973 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:12947973C>T uc003wwm.2 - 15 4306 c.3862G>A c.(3862-3864)GAG>AAG p.E1288K DLC1_uc003wwk.1_Missense_Mutation_p.E851K|DLC1_uc003wwl.1_Missense_Mutation_p.E885K|DLC1_uc011kxx.1_Missense_Mutation_p.E777K NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1288 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CTCATTTCCTCGGGAACCTGT 0.512 42 8 --- --- --- --- PASS XPO7 23039 broad.mit.edu 37 8 21856802 21856802 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:21856802C>T uc003xaa.3 + 23 2731 c.2629C>T c.(2629-2631)CAC>TAC p.H877Y XPO7_uc010lti.2_Missense_Mutation_p.H886Y|XPO7_uc010ltk.2_Missense_Mutation_p.H878Y NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN exportin 7 isoform b 877 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity ovary(1)|kidney(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) CTCTATTCCTCACAGTGATCT 0.478 166 70 --- --- --- --- PASS PHYHIP 9796 broad.mit.edu 37 8 22084393 22084393 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:22084393C>A uc003xbk.3 - 4 1005 c.311G>T c.(310-312)TGG>TTG p.W104L PHYHIP_uc003xbj.3_Missense_Mutation_p.W104L NM_001099335 NP_001092805 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 104 Fibronectin type-III. 0 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) CGTCTCGCTCCAGCCGGACAC 0.647 28 5 --- --- --- --- PASS FZD3 7976 broad.mit.edu 37 8 28420380 28420380 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:28420380C>A uc003xgx.2 + 8 2331 c.1853C>A c.(1852-1854)ACA>AAA p.T618K FZD3_uc010lvb.2_Missense_Mutation_p.T618K NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 618 Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) TCACGACTAACAGATCACTCC 0.453 31 8 --- --- --- --- PASS TMEM66 51669 broad.mit.edu 37 8 29927553 29927553 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:29927553T>C uc003xhs.2 - 3 489 c.305A>G c.(304-306)GAT>GGT p.D102G TMEM66_uc003xht.2_Missense_Mutation_p.D102G|TMEM66_uc003xhu.2_Missense_Mutation_p.D66G|TMEM66_uc003xhv.2_5'UTR NM_016127 NP_057211 Q96BY9 TMM66_HUMAN transmembrane protein 66 precursor 102 integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) GTATGCAATATCTAAGTCCGT 0.333 4 227 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35606132 35606132 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:35606132G>T uc003xjr.1 + 12 2182 c.1854G>T c.(1852-1854)TTG>TTT p.L618F UNC5D_uc003xjs.1_Missense_Mutation_p.L613F|UNC5D_uc003xju.1_Missense_Mutation_p.L194F NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 618 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCTTTGCATTGACCATCCCGC 0.507 133 135 --- --- --- --- PASS SGK3 23678 broad.mit.edu 37 8 67755686 67755686 + Splice_Site SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:67755686G>C uc003xwr.2 + 14 1278 c.979_splice c.e14-1 p.Y327_splice SGK3_uc003xwp.2_Splice_Site_p.Y321_splice|SGK3_uc003xwt.2_Splice_Site_p.Y327_splice|SGK3_uc003xwu.2_Intron NM_001033578 NP_001028750 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase 3 isoform cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity ovary(1)|large_intestine(1)|lung(1)|breast(1) 4 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) GTTTTCTATAGTATCTTGCAC 0.308 4 152 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113649187 113649187 + Missense_Mutation SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:113649187T>A uc003ynu.2 - 22 3733 c.3574A>T c.(3574-3576)AGT>TGT p.S1192C CSMD3_uc003yns.2_Missense_Mutation_p.S464C|CSMD3_uc003ynt.2_Missense_Mutation_p.S1152C|CSMD3_uc011lhx.1_Missense_Mutation_p.S1088C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1192 Sushi 6.|Extracellular (Potential). 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 CCGATTCGACTACCATATTGA 0.443 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 5 179 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139838952 139838952 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:139838952C>T uc003yvd.2 - 6 1365 c.918G>A c.(916-918)CGG>CGA p.R306R NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 306 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) AGTCTTCCTTCCGAGAGGTTT 0.507 HNSCC(7;0.00092) 95 22 --- --- --- --- PASS PTK2 5747 broad.mit.edu 37 8 141810641 141810641 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr8:141810641G>A uc003yvu.2 - 12 1240 c.1010C>T c.(1009-1011)GCG>GTG p.A337V PTK2_uc011ljq.1_5'UTR|PTK2_uc003yvp.2_5'UTR|PTK2_uc003yvq.2_5'UTR|PTK2_uc003yvr.2_Missense_Mutation_p.A236V|PTK2_uc003yvs.2_Missense_Mutation_p.A337V|PTK2_uc003yvt.2_Missense_Mutation_p.A359V|PTK2_uc003yvv.2_Missense_Mutation_p.A224V|PTK2_uc011ljr.1_Missense_Mutation_p.A337V NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 337 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) CATATTCTCCGCAATGGTTAG 0.483 4 134 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37740726 37740726 + Missense_Mutation SNP C T T rs147406379 byFrequency TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:37740726C>T uc004aag.1 + 15 2245 c.2201C>T c.(2200-2202)CCG>CTG p.P734L FRMPD1_uc004aah.1_Missense_Mutation_p.P734L|FRMPD1_uc011lqm.1_Missense_Mutation_p.P556L|FRMPD1_uc011lqn.1_Missense_Mutation_p.P603L NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 734 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GGGGGAGCCCCGCCAGCCTGG 0.652 24 16 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79318347 79318347 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:79318347G>T uc010mpk.2 - 9 8306 c.8182C>A c.(8182-8184)CCA>ACA p.P2728T PRUNE2_uc004akj.3_Missense_Mutation_p.P181T|PRUNE2_uc010mpl.1_Missense_Mutation_p.P181T NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2728 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ACAGGCTGTGGTGAAAGCATT 0.512 75 60 --- --- --- --- PASS BAAT 570 broad.mit.edu 37 9 104125029 104125029 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:104125029A>G uc010mtd.2 - 4 1047 c.938T>C c.(937-939)ATT>ACT p.I313T BAAT_uc004bbd.3_Missense_Mutation_p.I313T NM_001127610 NP_001121082 Q14032 BAAT_HUMAN bile acid Coenzyme A: amino acid 313 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity ovary(1)|lung(1)|skin(1) 3 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GGCCTCTTCAATAGGAAACAA 0.448 91 101 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115818962 115818962 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:115818962C>G uc004bgm.1 - 1 35 c.7G>C c.(7-9)GTC>CTC p.V3L ZFP37_uc011lwz.1_Missense_Mutation_p.V3L|ZFP37_uc011lxa.1_Missense_Mutation_p.V3L NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 3 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CCGCTGGAGACCGACATGGCG 0.662 27 37 --- --- --- --- PASS OLFML2A 169611 broad.mit.edu 37 9 127572392 127572392 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:127572392G>A uc004bov.2 + 8 1773 c.1660G>A c.(1660-1662)GAC>AAC p.D554N OLFML2A_uc004bow.2_Missense_Mutation_p.D340N NM_182487 NP_872293 Q68BL7 OLM2A_HUMAN olfactomedin-like 2A precursor 554 Olfactomedin-like. 0 GAGTCGCTTGGACCCCGGCGA 0.652 31 46 --- --- --- --- PASS NCS1 23413 broad.mit.edu 37 9 132984952 132984952 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:132984952G>A uc004bzi.2 + 5 417 c.331G>A c.(331-333)GAC>AAC p.D111N NCS1_uc010myz.1_Missense_Mutation_p.D93N NM_014286 NP_055101 P62166 NCS1_HUMAN frequenin homolog isoform 1 111 EF-hand 3.|2. negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|protein binding 0 CTACGACTTGGACAATGATGG 0.567 28 40 --- --- --- --- PASS KCNT1 57582 broad.mit.edu 37 9 138669314 138669314 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:138669314C>G uc011mdq.1 + 21 2554 c.2480C>G c.(2479-2481)TCC>TGC p.S827C KCNT1_uc011mdr.1_Missense_Mutation_p.S654C|KCNT1_uc010nbf.2_Missense_Mutation_p.S782C|KCNT1_uc004cgo.1_Missense_Mutation_p.S576C NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 827 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) TACTACAGATCCCGCAAGGAG 0.627 28 41 --- --- --- --- PASS UBAC1 10422 broad.mit.edu 37 9 138838190 138838190 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:138838190C>T uc004cgt.2 - 5 687 c.469G>A c.(469-471)GTG>ATG p.V157M UBAC1_uc004cgs.1_Missense_Mutation_p.V157M|UBAC1_uc004cgu.2_RNA NM_016172 NP_057256 Q9BSL1 UBAC1_HUMAN ubiquitin associated domain containing 1 157 Golgi apparatus|plasma membrane protein binding skin(2) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06) ATGAGAGACACCAGTATCTTC 0.473 49 54 --- --- --- --- PASS INPP5E 56623 broad.mit.edu 37 9 139327487 139327487 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:139327487C>G uc004cho.2 - 5 1585 c.1200G>C c.(1198-1200)CAG>CAC p.Q400H INPP5E_uc010nbm.2_Missense_Mutation_p.Q400H NM_019892 NP_063945 Q9NRR6 INP5E_HUMAN inositol polyphosphate-5-phosphatase E 400 cilium axoneme|cytoskeleton|Golgi cisterna membrane inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity skin(1) 1 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05) TGGTCTTGATCTGAGACACGA 0.602 21 30 --- --- --- --- PASS SEC16A 9919 broad.mit.edu 37 9 139366443 139366443 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr9:139366443C>T uc004chx.2 - 4 3997 c.3688G>A c.(3688-3690)GAA>AAA p.E1230K SEC16A_uc004chv.3_Missense_Mutation_p.E620K|SEC16A_uc004chw.2_Missense_Mutation_p.E1230K|SEC16A_uc010nbn.2_Missense_Mutation_p.E1230K NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 1052 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) GGTGGCCGTTCCGAGGAGTGG 0.632 24 18 --- --- --- --- PASS FAM21A 387680 broad.mit.edu 37 10 51892656 51892656 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr10:51892656A>T uc001jjb.2 + 31 4059 c.3977A>T c.(3976-3978)AAG>ATG p.K1326M FAM21A_uc001jja.1_Intron|FAM21A_uc010qhi.1_Missense_Mutation_p.K1305M|FAM21A_uc010qhj.1_Missense_Mutation_p.K1264M|FAM21B_uc009xoq.2_Missense_Mutation_p.K1238M NM_001005751 NP_001005751 Q641Q2 FA21A_HUMAN hypothetical protein LOC387680 1326 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 TTTGAACACAAGGTGTCCAAC 0.473 32 15 --- --- --- --- PASS ZMIZ1 57178 broad.mit.edu 37 10 81061960 81061960 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr10:81061960A>G uc001kaf.2 + 18 2688 c.2116A>G c.(2116-2118)ATC>GTC p.I706V ZMIZ1_uc001kag.2_Missense_Mutation_p.I582V NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 706 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) AGAGCACTGTATCACGAAAAG 0.617 9 68 --- --- --- --- PASS DNTT 1791 broad.mit.edu 37 10 98078223 98078223 + Nonsense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr10:98078223G>A uc001kmf.2 + 2 488 c.318G>A c.(316-318)TGG>TGA p.W106* DNTT_uc001kmg.2_Nonsense_Mutation_p.W106* NM_004088 NP_004079 P04053 TDT_HUMAN terminal deoxynucleotidyltransferase isoform 1 106 BRCT. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding ovary(1) 1 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) ATGTCTCCTGGCTGATCGAAT 0.478 70 30 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115423110 115423110 + Splice_Site SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr10:115423110C>A uc001laj.2 - 2 331 c.167_splice c.e2+1 p.A56_splice NRAP_uc001lak.2_Splice_Site_p.A56_splice|NRAP_uc001lal.3_Splice_Site_p.A56_splice NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CAAACACTTACGCGTGACAGT 0.398 26 12 --- --- --- --- PASS OR51B2 79345 broad.mit.edu 37 11 5345298 5345298 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:5345298G>C uc001mao.1 - 1 285 c.230C>G c.(229-231)CCT>CGT p.P77R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033180 NP_149420 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, 77 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATTACAGTAGGCATCGTGGT 0.493 43 58 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6191107 6191107 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:6191107G>A uc010qzy.1 - 1 450 c.450C>T c.(448-450)GTC>GTT p.V150V NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TTCGGGTGATGACGGCCAGAG 0.507 17 35 --- --- --- --- PASS HPS5 11234 broad.mit.edu 37 11 18320386 18320386 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:18320386C>A uc001mod.1 - 10 1395 c.1117G>T c.(1117-1119)GCT>TCT p.A373S HPS5_uc001moe.1_Missense_Mutation_p.A259S|HPS5_uc001mof.1_Missense_Mutation_p.A259S NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 373 cytosol ovary(1)|pancreas(1)|skin(1) 3 GTACGAGCAGCCAAGTTCCAT 0.463 Hermansky-Pudlak_syndrome 81 137 --- --- --- --- PASS NELL1 4745 broad.mit.edu 37 11 20805279 20805279 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:20805279C>G uc001mqe.2 + 3 391 c.238C>G c.(238-240)CTG>GTG p.L80V NELL1_uc001mqf.2_Missense_Mutation_p.L80V|NELL1_uc009yid.2_Missense_Mutation_p.L108V|NELL1_uc010rdo.1_Missense_Mutation_p.L80V|NELL1_uc010rdp.1_5'UTR NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 80 cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 ATTAATTCAGCTGTTCCGGAA 0.368 39 63 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48266819 48266819 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:48266819T>C uc001ngs.1 + 1 164 c.164T>C c.(163-165)CTC>CCC p.L55P NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 55 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TACTTCTTCCTCAGCTACCTC 0.493 13 195 --- --- --- --- PASS OR8H3 390152 broad.mit.edu 37 11 55890765 55890765 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:55890765A>T uc001nii.1 + 1 917 c.917A>T c.(916-918)CAG>CTG p.Q306L NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, 306 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00693) AGAGTCATGCAGAGAAGACAG 0.353 29 134 --- --- --- --- PASS OR4D6 219983 broad.mit.edu 37 11 59224643 59224643 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:59224643C>T uc010rku.1 + 1 210 c.210C>T c.(208-210)GAC>GAT p.D70D NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 70 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CAGTCCTGGACATCGTTTTTT 0.458 58 101 --- --- --- --- PASS HNRNPUL2 221092 broad.mit.edu 37 11 62490111 62490111 + Nonsense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:62490111G>A uc001nuw.2 - 6 1250 c.1057C>T c.(1057-1059)CAG>TAG p.Q353* HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 353 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding 0 CCAAAAGTCTGGCCAAATTCC 0.438 80 96 --- --- --- --- PASS MACROD1 28992 broad.mit.edu 37 11 63767113 63767113 + Splice_Site SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:63767113C>A uc001nyh.2 - 6 905 c.786_splice c.e6+1 p.V262_splice NM_014067 NP_054786 Q9BQ69 MACD1_HUMAN MACRO domain containing 1 0 CCGTCCCTCACCACCGAGCGG 0.716 4 6 --- --- --- --- PASS NUMA1 4926 broad.mit.edu 37 11 71725724 71725724 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:71725724G>A uc001orl.1 - 15 2997 c.2825C>T c.(2824-2826)GCG>GTG p.A942V NUMA1_uc009ysw.1_Missense_Mutation_p.A505V|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.A942V|NUMA1_uc001orn.2_Missense_Mutation_p.A505V|NUMA1_uc009ysx.1_Missense_Mutation_p.A942V|NUMA1_uc001oro.1_Missense_Mutation_p.A942V NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 942 Potential. G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 TCCTGCCCTCGCAGGCTCCTT 0.637 T RARA APL 4 105 --- --- --- --- PASS PICALM 8301 broad.mit.edu 37 11 85707960 85707960 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:85707960C>T uc001pbm.2 - 12 1453 c.1167G>A c.(1165-1167)CTG>CTA p.L389L PICALM_uc001pbl.2_Silent_p.L389L|PICALM_uc001pbn.2_Silent_p.L389L|PICALM_uc010rtl.1_Silent_p.L338L|PICALM_uc010rtk.1_Silent_p.L21L|PICALM_uc001pbo.1_Silent_p.L21L NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 389 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) GATCATTGGGCAGCTTTGATG 0.413 T MLLT10|MLL TALL|AML| 54 49 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92523317 92523317 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:92523317C>T uc001pdj.3 + 7 4561 c.4544C>T c.(4543-4545)ACT>ATT p.T1515I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1515 Cadherin 14.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACCCTAGCACTGGCGTGCTC 0.483 TCGA Ovarian(4;0.039) 80 227 --- --- --- --- PASS GPR83 10888 broad.mit.edu 37 11 94113620 94113620 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:94113620T>C uc001pet.2 - 4 1139 c.967A>G c.(967-969)AAC>GAC p.N323D NM_016540 NP_057624 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 precursor 323 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity central_nervous_system(2)|ovary(1) 3 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGGCATTGTTGGTGCGGATG 0.527 160 86 --- --- --- --- PASS ANGPTL5 253935 broad.mit.edu 37 11 101765763 101765763 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:101765763A>G uc001pgl.2 - 8 1290 c.694T>C c.(694-696)TAT>CAT p.Y232H NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 232 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) TTTACTATATAAAAAATCTTT 0.264 61 51 --- --- --- --- PASS C11orf63 79864 broad.mit.edu 37 11 122795604 122795604 + Splice_Site SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr11:122795604G>T uc001pym.2 + 4 1162 c.865_splice c.e4-1 p.I289_splice NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) tACCTACCTAGATCTCCTACC 0.333 7 83 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 406233 406233 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:406233G>A uc001qif.1 - 25 4571 c.4208C>T c.(4207-4209)TCT>TTT p.S1403F KDM5A_uc001qie.1_Missense_Mutation_p.S1403F NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 1403 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 AGAAGCAGAAGAATAAGCATG 0.398 T NUP98 AML 17 40 --- --- --- --- PASS FOXJ2 55810 broad.mit.edu 37 12 8197386 8197386 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:8197386G>A uc001qtu.2 + 6 1734 c.649G>A c.(649-651)GCA>ACA p.A217T FOXJ2_uc001qtt.1_Missense_Mutation_p.A217T NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 217 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) TGGAGCAGTGGCAGCAGGGGC 0.502 66 60 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9230374 9230374 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:9230374G>T uc001qvk.1 - 26 3312 c.3199C>A c.(3199-3201)CTC>ATC p.L1067I A2M_uc001qvj.1_Missense_Mutation_p.L109I|A2M_uc009zgk.1_Missense_Mutation_p.L917I NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1067 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) AGCCATATGAGGGCTTGGGTA 0.498 38 62 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21015494 21015494 + Splice_Site SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:21015494T>A uc001rek.2 + 6 754 c.628_splice c.e6+2 p.G210_splice SLCO1B3_uc001rel.2_Splice_Site_p.G210_splice|SLCO1B3_uc010sil.1_Splice_Site_p.G210_splice|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Splice_Site_p.G35_splice NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGTATTTAGGTAACGTACAGA 0.318 40 95 --- --- --- --- PASS FAR2 55711 broad.mit.edu 37 12 29423457 29423457 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:29423457G>T uc001ris.3 + 2 222 c.75G>T c.(73-75)GTG>GTT p.V25V FAR2_uc001rit.2_Silent_p.V25V|FAR2_uc009zjm.2_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 25 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 TGGGCAAAGTGCTGATGGAGA 0.522 34 47 --- --- --- --- PASS DDX11 1663 broad.mit.edu 37 12 31237560 31237560 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:31237560A>G uc001rjt.1 + 4 688 c.437A>G c.(436-438)CAG>CGG p.Q146R DDX11_uc010sjw.1_Missense_Mutation_p.Q146R|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Missense_Mutation_p.Q146R|DDX11_uc001rjs.1_Missense_Mutation_p.Q146R|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.Q146R|DDX11_uc001rjw.1_Missense_Mutation_p.Q120R NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 146 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CGCCTGCAGCAGCTGCAGCAC 0.587 Multiple Myeloma(12;0.14) 8 9 --- --- --- --- PASS SYT10 341359 broad.mit.edu 37 12 33579334 33579334 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:33579334C>A uc001rll.1 - 2 545 c.248G>T c.(247-249)TGC>TTC p.C83F SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 83 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) GCTTTTCCAGCATGGCCAACA 0.438 43 57 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41966881 41966881 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:41966881C>A uc010skn.1 + 10 1771 c.1703C>A c.(1702-1704)ACC>AAC p.T568N PDZRN4_uc001rmq.3_Missense_Mutation_p.T509N|PDZRN4_uc009zjz.2_Missense_Mutation_p.T507N|PDZRN4_uc001rmr.2_Missense_Mutation_p.T394N NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 767 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) ATCAACCTCACCAATAAGAAA 0.512 70 111 --- --- --- --- PASS NR4A1 3164 broad.mit.edu 37 12 52449850 52449850 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:52449850G>T uc001rzs.2 + 4 1227 c.913G>T c.(913-915)GCT>TCT p.A305S NR4A1_uc010sno.1_Missense_Mutation_p.A318S|NR4A1_uc001rzt.2_Missense_Mutation_p.A305S|NR4A1_uc009zmc.2_5'Flank NM_002135 NP_002126 P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 305 NR C4-type.|Nuclear receptor. nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(357;0.0967) CATCTGCCTGGCTAACAAGGA 0.612 38 54 --- --- --- --- PASS KRT85 3891 broad.mit.edu 37 12 52760914 52760914 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:52760914G>T uc001sag.2 - 1 396 c.276C>A c.(274-276)CCC>CCA p.P92P NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 92 Head. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGATGCATGGGGGGCTGGGTC 0.677 33 82 --- --- --- --- PASS KRT6A 3853 broad.mit.edu 37 12 52882246 52882246 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:52882246C>A uc001sam.2 - 7 1499 c.1290G>T c.(1288-1290)CTG>CTT p.L430L NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 430 Rod.|Coil 2. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) GGGCATCCTCCAGCCCTTCCA 0.612 55 69 --- --- --- --- PASS SMARCC2 6601 broad.mit.edu 37 12 56565666 56565666 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:56565666C>T uc001skb.2 - 20 1995 c.1889G>A c.(1888-1890)CGC>CAC p.R630H SMARCC2_uc001skd.2_Missense_Mutation_p.R661H|SMARCC2_uc001ska.2_Missense_Mutation_p.R661H|SMARCC2_uc001skc.2_Missense_Mutation_p.R660H|SMARCC2_uc010sqf.1_Missense_Mutation_p.R550H NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 630 SANT. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) GTCCTGTGTGCGGCTTCCCAC 0.532 3 75 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101584285 101584285 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:101584285T>C uc001thz.3 - 6 1184 c.794A>G c.(793-795)CAG>CGG p.Q265R NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 265 Cytoplasmic (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 AATATATCTCTGCACCTGGGA 0.398 84 119 --- --- --- --- PASS ASCL1 429 broad.mit.edu 37 12 103352352 103352352 + Nonsense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:103352352C>A uc001tjr.3 + 1 901 c.330C>A c.(328-330)TAC>TAA p.Y110* NM_004316 NP_004307 P50553 ASCL1_HUMAN achaete-scute complex homolog 1 110 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity 0 GCTTTGGCTACAGCCTGCCGC 0.667 3 3 --- --- --- --- PASS STAB2 55576 broad.mit.edu 37 12 104107464 104107464 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:104107464G>T uc001tjw.2 + 42 4641 c.4455G>T c.(4453-4455)AAG>AAT p.K1485N STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1485 Extracellular (Potential).|EGF-like 12. 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 GCTCTGCCAAGGCTGACTGTA 0.532 140 194 --- --- --- --- PASS RNF34 80196 broad.mit.edu 37 12 121855404 121855404 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:121855404C>T uc001ual.1 + 3 437 c.323C>T c.(322-324)ACA>ATA p.T108I RNF34_uc010szw.1_Missense_Mutation_p.T109I|RNF34_uc001uak.1_Missense_Mutation_p.T109I|RNF34_uc001uam.1_Missense_Mutation_p.T108I NM_025126 NP_079402 Q969K3 RNF34_HUMAN ring finger protein 34 isoform 2 108 apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) TTACAAGAGACAGCATTTCAG 0.423 55 83 --- --- --- --- PASS EP400 57634 broad.mit.edu 37 12 132561094 132561094 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:132561094A>T uc001ujn.2 + 51 9090 c.9055A>T c.(9055-9057)ACA>TCA p.T3019S EP400_uc001ujl.2_Missense_Mutation_p.T3018S|EP400_uc001ujm.2_Missense_Mutation_p.T2938S|EP400_uc001ujp.2_Missense_Mutation_p.T229S|EP400_uc010tbo.1_Missense_Mutation_p.N85I NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 3055 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) TCAACAGCAAACACCCGTGGC 0.443 12 39 --- --- --- --- PASS STARD13 90627 broad.mit.edu 37 13 33684944 33684944 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr13:33684944C>A uc001uuw.2 - 11 2834 c.2708G>T c.(2707-2709)GGG>GTG p.G903V STARD13_uc001uuu.2_Missense_Mutation_p.G895V|STARD13_uc001uuv.2_Missense_Mutation_p.G785V|STARD13_uc001uux.2_Missense_Mutation_p.G868V|STARD13_uc010tec.1_RNA NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 903 START. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GAAAGTTGCCCCACTCTCCTC 0.547 104 37 --- --- --- --- PASS SPG20 23111 broad.mit.edu 37 13 36878767 36878767 + Missense_Mutation SNP T G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr13:36878767T>G uc001uvn.2 - 10 2006 c.1736A>C c.(1735-1737)TAC>TCC p.Y579S SPG20_uc010ten.1_Missense_Mutation_p.Y569S|SPG20_uc001uvm.2_Missense_Mutation_p.Y579S|SPG20_uc001uvo.2_Missense_Mutation_p.Y579S|SPG20_uc001uvq.2_Missense_Mutation_p.Y579S NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 579 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) ATTATATCCGTATCTTTAAAA 0.343 66 12 --- --- --- --- PASS TMTC4 84899 broad.mit.edu 37 13 101287433 101287433 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr13:101287433G>T uc001vou.2 - 10 1322 c.1162C>A c.(1162-1164)CTG>ATG p.L388M TMTC4_uc001vot.2_Missense_Mutation_p.L407M|TMTC4_uc010tja.1_Missense_Mutation_p.L277M|TMTC4_uc001vov.1_Missense_Mutation_p.L133M|TMTC4_uc001vow.1_Missense_Mutation_p.L171M NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 388 Helical; (Potential). integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AGAAATCCCAGGCCCAGAGTA 0.458 22 4 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389649 20389649 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:20389649A>T uc010tkw.1 + 1 884 c.884A>T c.(883-885)AAG>ATG p.K295M NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 295 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGGGATATGAAGGCTGCCGTA 0.383 65 183 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20404281 20404281 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:20404281C>T uc001vwj.1 + 1 456 c.456C>T c.(454-456)GGC>GGT p.G152G NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GGGCGGTGGGCGTTCTTCATT 0.458 40 163 --- --- --- --- PASS IPO4 79711 broad.mit.edu 37 14 24655080 24655080 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:24655080G>C uc001wmv.1 - 12 1287 c.1156C>G c.(1156-1158)CAC>GAC p.H386D IPO4_uc001wmt.1_5'Flank|IPO4_uc001wmu.2_Missense_Mutation_p.H48D|IPO4_uc001wmx.1_Missense_Mutation_p.H250D|IPO4_uc001wmy.1_Missense_Mutation_p.H250D|IPO4_uc010tnz.1_RNA|IPO4_uc001wmw.1_RNA|IPO4_uc001wmz.1_Missense_Mutation_p.H386D NM_024658 NP_078934 Q8TEX9 IPO4_HUMAN importin 4 386 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity kidney(1) 1 GBM - Glioblastoma multiforme(265;0.0087) TGCCTGATGTGGTCGCCAGCT 0.507 29 52 --- --- --- --- PASS KHNYN 23351 broad.mit.edu 37 14 24900891 24900891 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:24900891C>T uc001wph.3 + 3 626 c.424C>T c.(424-426)CTG>TTG p.L142L KHNYN_uc010tpc.1_Silent_p.L183L|KHNYN_uc010alw.2_Silent_p.L142L|CBLN3_uc001wpg.3_5'Flank NM_015299 NP_056114 O15037 KHNYN_HUMAN hypothetical protein LOC23351 142 ovary(2)|liver(1) 3 GGCAGAGCGGCTGAGCTGGGA 0.622 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 53 --- --- --- --- PASS NOVA1 4857 broad.mit.edu 37 14 26949315 26949315 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:26949315C>A uc001wpy.2 - 3 633 c.315G>T c.(313-315)ACG>ACT p.T105T NOVA1_uc001wpz.2_Silent_p.T105T|NOVA1_uc001wqa.2_5'UTR|NOVA1_uc001wqb.2_Silent_p.T105T NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 108 KH 1. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GTGCTTCAACCGTTCCCTGGA 0.398 131 79 --- --- --- --- PASS NPAS3 64067 broad.mit.edu 37 14 33684419 33684419 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:33684419G>A uc001wru.2 + 3 236 c.172G>A c.(172-174)GAT>AAT p.D58N NPAS3_uc001wrs.2_Missense_Mutation_p.D28N|NPAS3_uc001wrt.2_Missense_Mutation_p.D28N|NPAS3_uc001wrv.2_Missense_Mutation_p.D28N|NPAS3_uc001wrw.2_5'UTR NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 58 Basic motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.L58L(1) ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GAAATCCCGAGATGCTGCTCG 0.453 47 35 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73717712 73717712 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:73717712C>T uc010ttx.1 + 6 726 c.563C>T c.(562-564)ACC>ATC p.T188I PAPLN_uc001xnw.3_Missense_Mutation_p.T188I|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.T188I NM_173462 NP_775733 O95428 PPN_HUMAN papilin 188 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) GTCGCAGGCACCTTTGACGCT 0.632 4 83 --- --- --- --- PASS TSHR 7253 broad.mit.edu 37 14 81609743 81609743 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:81609743C>A uc001xvd.1 + 10 1497 c.1341C>A c.(1339-1341)AAC>AAA p.N447K NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 447 Cytoplasmic (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) ACAAACTGAACGTCCCCCGCT 0.517 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 81 39 --- --- --- --- PASS PTPN21 11099 broad.mit.edu 37 14 88940130 88940130 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:88940130C>A uc001xwv.3 - 14 2859 c.2528G>T c.(2527-2529)CGA>CTA p.R843L PTPN21_uc010twc.1_Missense_Mutation_p.R639L NM_007039 NP_008970 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 843 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity ovary(3)|skin(1) 4 TGCATCTACTCGAGTCTTTTT 0.403 8 90 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106926397 106926397 + RNA SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:106926397C>A uc010tyt.1 - 235 c.10158G>T uc010tyu.1_Intron Parts of antibodies, mostly variable regions. 0 GTATAATCATCAAAGGTGAAT 0.557 74 127 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107211191 107211191 + RNA SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr14:107211191G>A uc010tyt.1 - 18 c.1150C>T Parts of antibodies, mostly variable regions. 0 GGACCCCCCAGGCTGGACCAA 0.622 4 62 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369104 22369104 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr15:22369104T>C uc010tzu.1 + 1 529 c.529T>C c.(529-531)TAC>CAC p.Y177H LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 177 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GTTAGACAGTTACTTCTGTGA 0.507 121 356 --- --- --- --- PASS UBE3A 7337 broad.mit.edu 37 15 25585248 25585248 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr15:25585248C>A uc001zaq.2 - 10 2491 c.2491G>T c.(2491-2493)GGC>TGC p.G831C uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.G808C|UBE3A_uc001zas.2_Missense_Mutation_p.G828C|UBE3A_uc001zat.2_Missense_Mutation_p.G808C NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 831 HECT. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) GTGTCTGGGCCATTTTTGGCT 0.393 59 97 --- --- --- --- PASS SEMA6D 80031 broad.mit.edu 37 15 48063935 48063935 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr15:48063935G>C uc010bek.2 + 19 3535 c.3175G>C c.(3175-3177)GTT>CTT p.V1059L SEMA6D_uc001zvw.2_Missense_Mutation_p.V997L|SEMA6D_uc001zvy.2_Missense_Mutation_p.V1059L|SEMA6D_uc001zvz.2_Missense_Mutation_p.V1003L|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Missense_Mutation_p.V997L|SEMA6D_uc001zwc.2_Missense_Mutation_p.V984L NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 1059 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) GCCTTCCTTTGTTCCTCAAAC 0.502 143 214 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50158605 50158605 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr15:50158605A>G uc001zxu.2 - 26 3246 c.3104T>C c.(3103-3105)ATT>ACT p.I1035T ATP8B4_uc010ber.2_Missense_Mutation_p.I908T|ATP8B4_uc010ufd.1_Missense_Mutation_p.I845T|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.I38T NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1035 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) TGTAAATAAAATGGAGAAATA 0.388 40 83 --- --- --- --- PASS RFX7 64864 broad.mit.edu 37 15 56387143 56387143 + Missense_Mutation SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr15:56387143T>A uc010bfn.2 - 9 2783 c.2783A>T c.(2782-2784)CAC>CTC p.H928L RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Missense_Mutation_p.H742L NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 831 regulation of transcription, DNA-dependent nucleus DNA binding 0 GCTGGAAGTGTGAGATGACAT 0.368 20 19 --- --- --- --- PASS C15orf27 123591 broad.mit.edu 37 15 76430135 76430135 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr15:76430135G>A uc002bbq.2 + 3 281 c.126G>A c.(124-126)CTG>CTA p.L42L C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 42 integral to membrane 0 CTGTGCAGCTGGTGAACTTTG 0.527 76 104 --- --- --- --- PASS SGK269 79834 broad.mit.edu 37 15 77425758 77425758 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr15:77425758C>T uc002bcm.2 - 5 3974 c.3666G>A c.(3664-3666)TTG>TTA p.L1222L NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1222 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) TCTCCTTGCGCAAAGGCCTTT 0.483 40 66 --- --- --- --- PASS DEXI 28955 broad.mit.edu 37 16 11035742 11035742 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr16:11035742G>A uc002dal.2 - 1 516 c.121C>T c.(121-123)CTG>TTG p.L41L CLEC16A_uc002dan.3_5'Flank|CLEC16A_uc002dao.2_5'Flank NM_014015 NP_054734 O95424 DEXI_HUMAN dexamethasone-induced protein 41 0 GCGTAGTACAGGATCAGCACA 0.642 14 4 --- --- --- --- PASS SEZ6L2 26470 broad.mit.edu 37 16 29884939 29884939 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr16:29884939A>G uc002duq.3 - 13 2456 c.2216T>C c.(2215-2217)CTC>CCC p.L739P uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.L669P|SEZ6L2_uc002dur.3_Missense_Mutation_p.L669P|SEZ6L2_uc002dus.3_Missense_Mutation_p.L625P|SEZ6L2_uc010vec.1_Missense_Mutation_p.L739P|SEZ6L2_uc010ved.1_Missense_Mutation_p.L695P NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 739 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 TGCCCCCTCGAGGCTGTACCC 0.677 14 17 --- --- --- --- PASS ZNF48 197407 broad.mit.edu 37 16 30409275 30409275 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr16:30409275G>A uc002dya.1 + 2 763 c.704G>A c.(703-705)CGC>CAC p.R235H ZNF48_uc002dxz.1_Missense_Mutation_p.R112H NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 235 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTTCCGCCCGCATCAAGCAC 0.657 3 54 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7579355 7579355 + Missense_Mutation SNP A C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:7579355A>C uc002gim.2 - 4 526 c.332T>G c.(331-333)CTG>CGG p.L111R TP53_uc002gig.1_Missense_Mutation_p.L111R|TP53_uc002gih.2_Missense_Mutation_p.L111R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.L111R|TP53_uc010cni.1_Missense_Mutation_p.L111R|TP53_uc002gij.2_Missense_Mutation_p.L111R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.L72R|TP53_uc010cnk.1_Missense_Mutation_p.L126R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 111 |Interaction with HIPK1 (By similarity). L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.L111P(6)|p.L111Q(4)|p.L111R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.Y107fs*44(1)|p.L111L(1)|p.L111M(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAAGAAGCCCAGACGGAAACC 0.617 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 13 --- --- --- --- PASS HS3ST3A1 9955 broad.mit.edu 37 17 13400066 13400066 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:13400066C>A uc002gob.1 - 2 1467 c.669G>T c.(667-669)CGG>CGT p.R223R NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN heparan sulfate D-glucosaminyl 223 Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity ovary(1)|central_nervous_system(1) 2 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) CGGGGGCCTCCCGCGTGACGA 0.622 28 17 --- --- --- --- PASS LYZL6 57151 broad.mit.edu 37 17 34266340 34266340 + Missense_Mutation SNP G C C rs141105239 TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:34266340G>C uc002hkj.1 - 1 171 c.21C>G c.(19-21)ATC>ATG p.I7M LYZL6_uc002hkk.1_Missense_Mutation_p.I7M NM_020426 NP_065159 O75951 LYZL6_HUMAN lysozyme-like 6 precursor 7 cell wall macromolecule catabolic process extracellular region lysozyme activity 0 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) TGACCAAATAGATGAGTAGCG 0.547 60 136 --- --- --- --- PASS FBXL20 84961 broad.mit.edu 37 17 37420578 37420578 + Nonsense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:37420578G>T uc010wed.1 - 14 1274 c.1053C>A c.(1051-1053)TGC>TGA p.C351* FBXL20_uc002hrt.2_Nonsense_Mutation_p.C351*|FBXL20_uc010cvu.2_Nonsense_Mutation_p.C319* NM_032875 NP_116264 Q96IG2 FXL20_HUMAN F-box and leucine-rich repeat protein 20 351 LRR 11. cytoplasm ovary(1) 1 LUAD - Lung adenocarcinoma(14;0.146) GGTCATGGGCGCAGGCCCCAT 0.517 59 79 --- --- --- --- PASS KRT17 3872 broad.mit.edu 37 17 39778625 39778625 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:39778625C>A uc002hxh.2 - 3 775 c.654G>T c.(652-654)CTG>CTT p.L218L JUP_uc010wfs.1_Intron NM_000422 NP_000413 Q04695 K1C17_HUMAN keratin 17 218 Coil 1B.|Rod. epidermis development cytoplasm|intermediate filament protein binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Breast(137;0.000307) GGTTCTTCTTCAGGTAGGCCA 0.622 Steatocystoma_Multiplex 8 114 --- --- --- --- PASS AOC3 8639 broad.mit.edu 37 17 41007479 41007479 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:41007479C>A uc002ibv.2 + 3 2065 c.1905C>A c.(1903-1905)ACC>ACA p.T635T NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 635 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) TGGCTGTGACCCAGCGGAAGG 0.552 7 16 --- --- --- --- PASS MPP3 4356 broad.mit.edu 37 17 41891393 41891393 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:41891393C>A uc002iei.3 - 16 1407 c.1241G>T c.(1240-1242)GGC>GTC p.G414V MPP3_uc002ieh.2_Missense_Mutation_p.G439V|MPP3_uc002iej.2_RNA NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 414 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) AACAGCGACGCCAAAGTGCTG 0.542 62 117 --- --- --- --- PASS DCAKD 79877 broad.mit.edu 37 17 43107538 43107538 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:43107538T>C uc002ihx.2 - 3 582 c.326A>G c.(325-327)TAC>TGC p.Y109C DCAKD_uc010daa.1_Missense_Mutation_p.Y109C|DCAKD_uc010dab.1_Missense_Mutation_p.Y109C NM_024819 NP_079095 Q8WVC6 DCAKD_HUMAN dephospho-CoA kinase domain containing 109 DPCK. coenzyme A biosynthetic process ATP binding|dephospho-CoA kinase activity 0 Prostate(33;0.155) CAGAATCACGTAGCGGTATCC 0.537 86 135 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62018584 62018584 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:62018584C>A uc002jds.1 - 24 5135 c.5058G>T c.(5056-5058)GAG>GAT p.E1686D NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1686 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) CACCCAGGACCTCTTTGGTCA 0.567 56 177 --- --- --- --- PASS BAHCC1 57597 broad.mit.edu 37 17 79414562 79414562 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:79414562C>T uc002kaf.2 + 9 3664 c.3664C>T c.(3664-3666)CCT>TCT p.P1222S BAHCC1_uc002kae.2_Missense_Mutation_p.P452S NM_001080519 NP_001073988 Q9P281 BAHC1_HUMAN BAH domain and coiled-coil containing 1 1222 DNA binding ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116) GCAGCCGGCCCCTGAGGAGGA 0.697 3 7 --- --- --- --- PASS P4HB 5034 broad.mit.edu 37 17 79813047 79813047 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:79813047C>G uc002kbn.1 - 4 792 c.595G>C c.(595-597)GAC>CAC p.D199H P4HB_uc002kbm.1_5'UTR NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 199 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CCATCTTTGTCGAGCTGGTAT 0.542 10 585 --- --- --- --- PASS HEXDC 284004 broad.mit.edu 37 17 80400154 80400154 + Missense_Mutation SNP A C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:80400154A>C uc002kew.2 + 12 1406 c.1355A>C c.(1354-1356)CAC>CCC p.H452P HEXDC_uc002kev.3_Missense_Mutation_p.T482P|HEXDC_uc010diq.2_Silent_p.A454A|HEXDC_uc010wvm.1_RNA Q8WVB3 HEXDC_HUMAN SubName: Full=Hexosaminidase (Glycosyl hydrolase family 20, catalytic domain) containing, isoform CRA_c; SubName: Full=Hexosaminidase D; 452 carbohydrate metabolic process cytoplasm|nucleus beta-N-acetylhexosaminidase activity|cation binding ovary(1)|skin(1) 2 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GAAAACGTGCACCCCAGCCTG 0.677 5 14 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 334876 334876 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr18:334876G>C uc002kkm.2 - 6 1897 c.1682C>G c.(1681-1683)CCT>CGT p.P561R NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 561 Collagen-like 3.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CAGTCCCCGAGGTCCAGGCAC 0.741 10 9 --- --- --- --- PASS MYL12B 103910 broad.mit.edu 37 18 3277383 3277383 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr18:3277383C>T uc010dkl.2 + 3 476 c.317C>T c.(316-318)GCC>GTC p.A106V MYL12B_uc002klt.3_Missense_Mutation_p.A84V|MYL12B_uc010wyv.1_Missense_Mutation_p.A106V NM_001144944 NP_001138416 O14950 ML12B_HUMAN myosin regulatory light chain MRCL2 isoform A 106 EF-hand 2. axon guidance|muscle contraction cytosol|myosin complex calcium ion binding 0 ATCAGAAACGCCTTTGCTTGC 0.433 102 135 --- --- --- --- PASS LAMA3 3909 broad.mit.edu 37 18 21390438 21390438 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr18:21390438C>T uc002kuq.2 + 13 1798 c.1712C>T c.(1711-1713)TCA>TTA p.S571L LAMA3_uc002kur.2_Missense_Mutation_p.S571L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 571 Domain V.|Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGGTGTCTCTCAGGAGCTTAT 0.552 41 75 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806383 22806383 + Missense_Mutation SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr18:22806383T>A uc002kvk.2 - 4 1746 c.1499A>T c.(1498-1500)CAT>CTT p.H500L ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.H500L|ZNF521_uc002kvl.2_Missense_Mutation_p.H280L NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 500 C2H2-type 11. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TGCAAATCCATGAGAACATCG 0.443 T PAX5 ALL 58 113 --- --- --- --- PASS DSG4 147409 broad.mit.edu 37 18 28989767 28989767 + Silent SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr18:28989767C>T uc002kwq.2 + 14 2268 c.2133C>T c.(2131-2133)TCC>TCT p.S711S DSG4_uc002kwr.2_Intron NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 711 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGATGGATTCCTCTGGTCAGT 0.343 34 65 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65180602 65180602 + Nonsense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr18:65180602C>T uc002lke.1 - 2 2498 c.1274G>A c.(1273-1275)TGG>TAG p.W425* NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 415 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) AACCACACCCCAGTTAGGGAA 0.478 6 100 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76753665 76753665 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr18:76753665C>A uc002lmt.2 + 2 1674 c.1674C>A c.(1672-1674)CCC>CCA p.P558P SALL3_uc010dra.2_Silent_p.P165P NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GGCCCTCGCCCGCCTCCAGCG 0.756 4 1 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9065840 9065840 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:9065840G>C uc002mkp.2 - 3 21810 c.21606C>G c.(21604-21606)GAC>GAG p.D7202E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7204 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGTCTCTGAGTCAGCTAAGG 0.488 110 141 --- --- --- --- PASS OR7D2 162998 broad.mit.edu 37 19 9297382 9297382 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:9297382G>T uc002mkz.1 + 1 1113 c.925G>T c.(925-927)GCC>TCC p.A309S NM_175883 NP_787079 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, 309 Cytoplasmic (Potential). regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|upper_aerodigestive_tract(1) 3 CAGCAGGGCAGCCTCTTGTTT 0.468 32 42 --- --- --- --- PASS OLFM2 93145 broad.mit.edu 37 19 9968144 9968144 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:9968144C>A uc002mmp.2 - 4 403 c.375G>T c.(373-375)AGG>AGT p.R125S OLFM2_uc002mmo.2_Missense_Mutation_p.R47S NM_058164 NP_477512 O95897 NOE2_HUMAN olfactomedin 2 precursor 125 extracellular region large_intestine(1)|skin(1) 2 GTTCCGTCATCCTGTCCTTCA 0.572 16 34 --- --- --- --- PASS S1PR2 9294 broad.mit.edu 37 19 10334967 10334967 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:10334967G>A uc002mnl.2 - 2 726 c.615C>T c.(613-615)ATC>ATT p.I205I NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 205 Helical; Name=5; (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 ACAGGGCCACGATGGCCAACA 0.627 7 53 --- --- --- --- PASS ICAM4 3386 broad.mit.edu 37 19 10398376 10398376 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:10398376G>T uc002mns.1 + 2 598 c.559G>T c.(559-561)GAT>TAT p.D187Y ICAM4_uc002mnr.1_Missense_Mutation_p.G161V|ICAM4_uc002mnt.1_Missense_Mutation_p.D187Y|ICAM5_uc002mnu.3_5'Flank NM_001544 NP_001535 Q14773 ICAM4_HUMAN intercellular adhesion molecule 4 isoform 1 187 Ig-like C2-type 2.|Extracellular (Potential). cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CACCGGCCTGGATCTGGCCAA 0.632 31 43 --- --- --- --- PASS ZNF442 79973 broad.mit.edu 37 19 12461833 12461833 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:12461833G>A uc002mtr.1 - 6 1177 c.566C>T c.(565-567)ACC>ATC p.T189I ZNF442_uc010xmk.1_Missense_Mutation_p.T120I NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 189 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 AGAACTGAAGGTTTTCCCACA 0.418 4 234 --- --- --- --- PASS MAN2B1 4125 broad.mit.edu 37 19 12768935 12768935 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:12768935C>A uc002mub.2 - 10 1327 c.1251G>T c.(1249-1251)GCG>GCT p.A417A MAN2B1_uc010dyv.1_Silent_p.A416A NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 417 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 GGCCCACCAGCGCCTCCAGCT 0.682 21 18 --- --- --- --- PASS C19orf44 84167 broad.mit.edu 37 19 16614123 16614123 + Missense_Mutation SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:16614123C>G uc002neh.1 + 3 1080 c.1007C>G c.(1006-1008)TCC>TGC p.S336C MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.S336C|C19orf44_uc002neg.2_Missense_Mutation_p.S336C|C19orf44_uc010eai.1_RNA NM_032207 NP_115583 Q9H6X5 CS044_HUMAN hypothetical protein LOC84167 336 0 CTTGTGTCCTCCCCGGGAAGG 0.562 28 56 --- --- --- --- PASS MAG 4099 broad.mit.edu 37 19 35804240 35804240 + Silent SNP T G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:35804240T>G uc002nyy.1 + 11 1913 c.1764T>G c.(1762-1764)GGT>GGG p.G588G MAG_uc002nyx.1_3'UTR|MAG_uc010eds.1_Silent_p.G563G|MAG_uc002nyz.1_Silent_p.G588G NM_002361 NP_002352 P20916 MAG_HUMAN myelin associated glycoprotein isoform a 588 Cytoplasmic (Potential). blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane sugar binding breast(3)|lung(2)|central_nervous_system(1)|skin(1) 7 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Renal(1328;0.242) Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) GCCTTCGGGGTGAGCCCCCAG 0.617 41 63 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38937345 38937345 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:38937345A>G uc002oit.2 + 9 867 c.737A>G c.(736-738)TAT>TGT p.Y246C RYR1_uc002oiu.2_Missense_Mutation_p.Y246C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 246 MIR 3.|Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CTTGTCTACTATGAGGGGGGA 0.597 44 64 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41063166 41063166 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:41063166G>T uc002ony.2 + 26 5613 c.5527G>T c.(5527-5529)GCC>TCC p.A1843S SPTBN4_uc002onx.2_Missense_Mutation_p.A1843S|SPTBN4_uc002onz.2_Missense_Mutation_p.A1843S|SPTBN4_uc010egx.2_Missense_Mutation_p.A586S|SPTBN4_uc002ooa.2_Missense_Mutation_p.A519S NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1843 Spectrin 16. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTTCAGTGACGCCCGAGAGCT 0.662 15 36 --- --- --- --- PASS CPT1C 126129 broad.mit.edu 37 19 50195642 50195642 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:50195642C>T uc002ppj.2 + 2 338 c.133C>T c.(133-135)CGT>TGT p.R45C CPT1C_uc002ppl.3_Missense_Mutation_p.R45C|CPT1C_uc002ppi.2_Translation_Start_Site|CPT1C_uc002ppk.2_Missense_Mutation_p.R45C|CPT1C_uc010eng.2_Missense_Mutation_p.R45C|CPT1C_uc010enh.2_Missense_Mutation_p.R45C|CPT1C_uc010ybc.1_Translation_Start_Site NM_152359 NP_689572 Q8TCG5 CPT1C_HUMAN carnitine palmitoyltransferase 1C isoform 2 45 Cytoplasmic (Potential). fatty acid metabolic process integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786) GCATCTCTCACGTTTCTGGGT 0.597 12 29 --- --- --- --- PASS SIGLEC7 27036 broad.mit.edu 37 19 51647859 51647859 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:51647859C>A uc002pvv.1 + 2 699 c.630C>A c.(628-630)CAC>CAA p.H210Q SIGLEC7_uc002pvw.1_Intron|SIGLEC7_uc010eoq.1_Intron|SIGLEC7_uc010eor.1_Intron NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN sialic acid binding Ig-like lectin 7 isoform 1 210 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to plasma membrane receptor activity|sugar binding large_intestine(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) AGCCCCAGCACCACGGCACCA 0.647 27 35 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423270 56423270 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:56423270A>G uc010ygg.1 - 5 1938 c.1913T>C c.(1912-1914)CTT>CCT p.L638P NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 638 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) GCAGTGAAAAAGTCGTAGAAT 0.418 62 118 --- --- --- --- PASS ZNF135 7694 broad.mit.edu 37 19 58573067 58573067 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:58573067C>A uc010yhq.1 + 3 249 c.153C>A c.(151-153)GTC>GTA p.V51V ZNF135_uc002qre.2_Silent_p.V51V|ZNF135_uc002qrd.1_Silent_p.V9V|ZNF135_uc002qrf.2_Silent_p.V9V|ZNF135_uc002qrg.2_Silent_p.V9V|ZNF135_uc010yhr.1_Intron NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 51 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GGCTTCTGGTCTCTGTGGGTA 0.517 89 119 --- --- --- --- PASS PLCB1 23236 broad.mit.edu 37 20 8709735 8709735 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr20:8709735G>T uc002wnb.2 + 18 1805 c.1802G>T c.(1801-1803)GGA>GTA p.G601V PLCB1_uc010zrb.1_Missense_Mutation_p.G500V|PLCB1_uc002wna.2_Missense_Mutation_p.G601V|PLCB1_uc002wnc.1_Missense_Mutation_p.G500V|PLCB1_uc002wnd.1_Missense_Mutation_p.G178V NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 601 PI-PLC Y-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TATCCAAAAGGAACACGTGTG 0.358 40 75 --- --- --- --- PASS BTBD3 22903 broad.mit.edu 37 20 11903423 11903423 + Silent SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr20:11903423T>C uc002wnz.2 + 4 1037 c.678T>C c.(676-678)TGT>TGC p.C226C BTBD3_uc002wny.2_Silent_p.C165C|BTBD3_uc002woa.2_Silent_p.C165C|BTBD3_uc010zrf.1_Silent_p.C75C|BTBD3_uc010zrg.1_Silent_p.C75C|BTBD3_uc010zrh.1_Silent_p.C75C NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 226 ovary(2)|central_nervous_system(1) 3 AGAATGCCTGTGTGCTCCTCT 0.552 42 76 --- --- --- --- PASS BTBD3 22903 broad.mit.edu 37 20 11903424 11903424 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr20:11903424G>T uc002wnz.2 + 4 1038 c.679G>T c.(679-681)GTG>TTG p.V227L BTBD3_uc002wny.2_Missense_Mutation_p.V166L|BTBD3_uc002woa.2_Missense_Mutation_p.V166L|BTBD3_uc010zrf.1_Missense_Mutation_p.V76L|BTBD3_uc010zrg.1_Missense_Mutation_p.V76L|BTBD3_uc010zrh.1_Missense_Mutation_p.V76L NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 227 ovary(2)|central_nervous_system(1) 3 GAATGCCTGTGTGCTCCTCTC 0.557 42 74 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33637788 33637788 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr20:33637788C>A uc002xbk.2 - 6 572 c.538G>T c.(538-540)GTT>TTT p.V180F TRPC4AP_uc002xbl.2_Missense_Mutation_p.V180F|TRPC4AP_uc010zur.1_Missense_Mutation_p.V141F|TRPC4AP_uc002xbm.1_Missense_Mutation_p.V180F NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 180 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) CGCTTTGTAACTCCCTCTGTC 0.363 53 142 --- --- --- --- PASS JPH2 57158 broad.mit.edu 37 20 42815135 42815135 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr20:42815135C>A uc002xli.1 - 1 1084 c.211G>T c.(211-213)GGG>TGG p.G71W JPH2_uc002xlj.2_Missense_Mutation_p.G71W NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 71 Gly-rich.|MORN 3.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) ATGCCCAGCCCATGCCGTTTG 0.597 21 62 --- --- --- --- PASS RIMS4 140730 broad.mit.edu 37 20 43438895 43438895 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr20:43438895G>T uc002xms.2 - 1 18 c.18C>A c.(16-18)AGC>AGA p.S6R RIMS4_uc010ggu.2_Missense_Mutation_p.S6R NM_182970 NP_892015 Q9H426 RIMS4_HUMAN regulating synaptic membrane exocytosis 4 6 exocytosis|neurotransmitter transport cell junction|synapse ovary(4)|central_nervous_system(1) 5 Myeloproliferative disorder(115;0.0122) GACTGAGGCGGCTCTGCGAGC 0.507 6 4 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10914395 10914395 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr21:10914395C>A uc002yip.1 - 21 1692 c.1324G>T c.(1324-1326)GTC>TTC p.V442F TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.V424F|TPTE_uc002yir.1_Missense_Mutation_p.V404F|TPTE_uc010gkv.1_Missense_Mutation_p.V304F NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 442 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTGGAAAAGACAACCTTTTTC 0.323 6 51 --- --- --- --- PASS USP25 29761 broad.mit.edu 37 21 17197357 17197357 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr21:17197357G>A uc002yjy.1 + 12 1498 c.1281G>A c.(1279-1281)ACG>ACA p.T427T USP25_uc011aby.1_Silent_p.T427T|USP25_uc002yjz.1_Silent_p.T427T|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 427 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.T427M(1) ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) ATTACCTCACGGTATTACAAC 0.299 29 39 --- --- --- --- PASS ABCG1 9619 broad.mit.edu 37 21 43645932 43645932 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr21:43645932G>T uc002zaq.2 + 2 300 c.194G>T c.(193-195)CGC>CTC p.R65L ABCG1_uc002zan.2_Missense_Mutation_p.R67L|ABCG1_uc002zam.2_Missense_Mutation_p.R43L|ABCG1_uc002zao.2_Missense_Mutation_p.R62L|ABCG1_uc002zap.2_Missense_Mutation_p.R65L|ABCG1_uc002zar.2_Missense_Mutation_p.R76L|ABCG1_uc011aev.1_Missense_Mutation_p.R76L NM_004915 NP_004906 P45844 ABCG1_HUMAN ATP-binding cassette sub-family G member 1 65 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) GAAGCCCAGCGCTTCTCCTCC 0.532 137 14 --- --- --- --- PASS IL17RA 23765 broad.mit.edu 37 22 17589252 17589252 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr22:17589252G>C uc002zly.2 + 13 1276 c.1143G>C c.(1141-1143)TGG>TGC p.W381C IL17RA_uc010gqt.2_Missense_Mutation_p.W329C NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 381 Cytoplasmic (Potential).|SEFIR. fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) GGAAGGTCTGGATCATCTACT 0.632 7 26 --- --- --- --- PASS AIFM3 150209 broad.mit.edu 37 22 21329007 21329007 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr22:21329007G>C uc002ztj.2 + 8 840 c.622G>C c.(622-624)GTG>CTG p.V208L AIFM3_uc002ztk.2_Missense_Mutation_p.V208L|AIFM3_uc002ztl.2_Missense_Mutation_p.V214L|AIFM3_uc011ahx.1_Missense_Mutation_p.V196L|AIFM3_uc002ztm.1_Intron NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 208 activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) AGCTGGCCTGGTGTGTGCAGA 0.647 4 5 --- --- --- --- PASS LZTR1 8216 broad.mit.edu 37 22 21345987 21345987 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr22:21345987A>G uc002zto.2 + 9 965 c.862A>G c.(862-864)ACC>GCC p.T288A LZTR1_uc002ztn.2_Missense_Mutation_p.T247A|LZTR1_uc011ahy.1_Missense_Mutation_p.T269A|LZTR1_uc010gsr.1_Missense_Mutation_p.T159A NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 288 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) CTACGGGCATACCATGGTGGC 0.622 5 3 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 22453531 22453531 + RNA SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr22:22453531C>A uc011aim.1 + 7 c.664C>A Parts of antibodies, mostly variable regions. 0 TGGCTCCATCCTTGGGAACAA 0.552 4 82 --- --- --- --- PASS SCML2 10389 broad.mit.edu 37 X 18259411 18259411 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:18259411C>A uc004cyl.2 - 15 2220 c.2063G>T c.(2062-2064)TGT>TTT p.C688F SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 688 SAM. anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) AATGTAGTAACACAGCTTTAA 0.358 106 135 --- --- --- --- PASS POLA1 5422 broad.mit.edu 37 X 24741271 24741271 + Splice_Site SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:24741271G>T uc004dbl.2 + 11 1093 c.1070_splice c.e11-1 p.G357_splice POLA1_uc004dbm.2_Splice_Site_p.G363_splice|POLA1_uc004dbn.2_Splice_Site_p.G221_splice NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) TATTCTTTCAGGTGTGGTATT 0.383 82 120 --- --- --- --- PASS MAGEB6 158809 broad.mit.edu 37 X 26212431 26212431 + Silent SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:26212431G>T uc004dbr.2 + 2 617 c.468G>T c.(466-468)TCG>TCT p.S156S MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 156 Ser-rich. ovary(3) 3 CCACTGGCTCGCCTGATGCAG 0.507 3 69 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29973704 29973704 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:29973704C>A uc004dby.2 + 11 2366 c.1858C>A c.(1858-1860)CGT>AGT p.R620S NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 620 Cytoplasmic (Potential).|Interaction with NCS1. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TTCACAAATGCGTCAGAAACA 0.532 13 19 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30236736 30236736 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:30236736G>C uc004dbz.2 + 2 142 c.39G>C c.(37-39)GAG>GAC p.E13D NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 13 protein binding ovary(1) 1 GTGCCCGTGAGAAACGCCGCA 0.537 16 33 --- --- --- --- PASS MAGEB3 4114 broad.mit.edu 37 X 30254995 30254995 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:30254995C>A uc004dca.1 + 5 1691 c.954C>A c.(952-954)GTC>GTA p.V318V NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 318 0 AAGAAAGAGTCCAAGCTGCAG 0.502 19 36 --- --- --- --- PASS FAM47A 158724 broad.mit.edu 37 X 34148685 34148685 + Nonsense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:34148685C>A uc004ddg.2 - 1 1744 c.1711G>T c.(1711-1713)GAG>TAG p.E571* NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 571 ovary(4)|central_nervous_system(1) 5 TTGGGAGGCTCCGAGAATTGA 0.522 42 46 --- --- --- --- PASS SSX1 6756 broad.mit.edu 37 X 48123281 48123281 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:48123281C>A uc004djb.1 + 6 486 c.395C>A c.(394-396)CCA>CAA p.P132Q NM_005635 NP_005626 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169) soft_tissue(1169) 1169 GCATCTGGCCCACAAAACGAT 0.418 153 218 --- --- --- --- PASS CCDC22 28952 broad.mit.edu 37 X 49104772 49104772 + Splice_Site SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:49104772G>T uc004dnd.1 + 10 1368 c.1212_splice c.e10+1 p.Q404_splice CCDC22_uc004dnc.1_Splice_Site NM_014008 NP_054727 O60826 CCD22_HUMAN coiled-coil domain containing 22 central_nervous_system(1) 1 CAAGCTGCAGGTGGGGTTGGG 0.537 7 12 --- --- --- --- PASS WNK3 65267 broad.mit.edu 37 X 54265524 54265524 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:54265524G>A uc004dtd.1 - 18 4099 c.3660C>T c.(3658-3660)TCC>TCT p.S1220S WNK3_uc004dtc.1_Silent_p.S1220S NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1220 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 AAGCATCTGAGGACATCTCCT 0.363 22 49 --- --- --- --- PASS GNL3L 54552 broad.mit.edu 37 X 54581038 54581038 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:54581038G>A uc004dth.1 + 14 1498 c.1359G>A c.(1357-1359)ACG>ACA p.T453T GNL3L_uc004dti.2_RNA NM_019067 NP_061940 Q9NVN8 GNL3L_HUMAN guanine nucleotide binding protein-like 3 453 ribosome biogenesis nucleolus GTP binding ovary(1) 1 TGGGTGACACGGACCCACTTG 0.512 36 55 --- --- --- --- PASS USP51 158880 broad.mit.edu 37 X 55514393 55514393 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:55514393G>A uc004dun.1 - 2 1059 c.980C>T c.(979-981)TCA>TTA p.S327L USP51_uc011moo.1_Missense_Mutation_p.S31L NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 327 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 TTCAAACCCTGATGTCATAAA 0.353 11 287 --- --- --- --- PASS ITGB1BP2 26548 broad.mit.edu 37 X 70524083 70524083 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:70524083T>C uc004dzr.1 + 9 715 c.686T>C c.(685-687)GTA>GCA p.V229A BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.V211A NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 229 CS. muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) GATTCCTTAGTAGTGGTGACT 0.463 27 77 --- --- --- --- PASS RLIM 51132 broad.mit.edu 37 X 73812559 73812559 + Missense_Mutation SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:73812559T>A uc004ebu.2 - 5 881 c.591A>T c.(589-591)GAA>GAT p.E197D RLIM_uc004ebw.2_Missense_Mutation_p.E197D NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 197 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CTGTTAACGCTTCAGTTGAAT 0.493 125 202 --- --- --- --- PASS DIAPH2 1730 broad.mit.edu 37 X 96171548 96171548 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:96171548A>G uc004efu.3 + 8 1240 c.844A>G c.(844-846)ATT>GTT p.I282V DIAPH2_uc004eft.3_Missense_Mutation_p.I282V|DIAPH2_uc004efs.2_Missense_Mutation_p.I289V NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 282 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 ACTTTCTGCTATTTGCATTGT 0.323 3 75 --- --- --- --- PASS RAB40A 142684 broad.mit.edu 37 X 102755198 102755198 + Missense_Mutation SNP T C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:102755198T>C uc004ekk.2 - 3 829 c.487A>G c.(487-489)ATC>GTC p.I163V NM_080879 NP_543155 Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 163 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 GACTCTATGATGTTGAAATTG 0.587 6 72 --- --- --- --- PASS HTR2C 3358 broad.mit.edu 37 X 114082670 114082670 + Missense_Mutation SNP C T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:114082670C>T uc004epu.1 + 5 1182 c.454C>T c.(454-456)CGG>TGG p.R152W HTR2C_uc010nqc.1_Missense_Mutation_p.R152W|HTR2C_uc004epv.1_Missense_Mutation_p.R152W NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 152 Cytoplasmic (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) ATCGCTGGATCGGTATGTAGC 0.428 100 198 --- --- --- --- PASS CXorf56 63932 broad.mit.edu 37 X 118699258 118699258 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:118699258C>A uc004erk.1 - 1 107 c.61G>T c.(61-63)GAC>TAC p.D21Y CXorf56_uc004erj.1_5'UTR|CXorf56_uc011mtu.1_Missense_Mutation_p.D21Y NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 21 protein binding 0 TCGCCGTCGTCATATTCCTCC 0.557 42 94 --- --- --- --- PASS NKAP 79576 broad.mit.edu 37 X 119070583 119070583 + Missense_Mutation SNP G C C TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:119070583G>C uc004esh.2 - 3 697 c.530C>G c.(529-531)ACT>AGT p.T177S NKAP_uc004esg.2_Missense_Mutation_p.T64S NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 177 negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 ACCTTCTGAAGTAGAAGCTGA 0.279 76 110 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122754763 122754763 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:122754763C>A uc004etu.2 - 32 4302 c.4270G>T c.(4270-4272)GTA>TTA p.V1424L THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.V245L NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1424 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 CTAACCTTTACTGTGGAGGAA 0.413 159 250 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122757771 122757771 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:122757771A>T uc004etu.2 - 28 3402 c.3370T>A c.(3370-3372)TTG>ATG p.L1124M THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1124 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 AGCACAATCAAGATATTCCTG 0.358 94 133 --- --- --- --- PASS SASH3 54440 broad.mit.edu 37 X 128927642 128927642 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:128927642G>A uc011mun.1 + 8 1159 c.977G>A c.(976-978)GGC>GAC p.G326D SASH3_uc004euu.2_Missense_Mutation_p.G326D|SASH3_uc011muo.1_Missense_Mutation_p.G293D NM_018990 NP_061863 O75995 SASH3_HUMAN SAM and SH3 domain containing 3 326 ovary(2)|pancreas(1) 3 GCTGAAGAGGGCGCCGAGAGC 0.632 15 27 --- --- --- --- PASS ZNF449 203523 broad.mit.edu 37 X 134481156 134481156 + Missense_Mutation SNP A G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:134481156A>G uc004eys.2 + 2 278 c.113A>G c.(112-114)TAC>TGC p.Y38C ZNF449_uc004eyq.1_Missense_Mutation_p.Y38C|ZNF449_uc004eyr.3_Missense_Mutation_p.Y38C|ZNF449_uc004eyt.2_5'UTR NM_152695 NP_689908 Q6P9G9 ZN449_HUMAN zinc finger protein 449 38 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAGTTCCAGTACAGAGAAGCA 0.478 55 128 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135429072 135429072 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:135429072G>T uc004ezu.1 + 6 3498 c.3207G>T c.(3205-3207)CAG>CAT p.Q1069H GPR112_uc010nsb.1_Missense_Mutation_p.Q864H|GPR112_uc010nsc.1_Missense_Mutation_p.Q836H NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1069 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) CTTTGGATCAGACTGCTTCCA 0.473 199 319 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138679676 138679676 + Silent SNP C G G TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:138679676C>G uc004fau.2 - 18 2292 c.1998G>C c.(1996-1998)CTG>CTC p.L666L MCF2_uc004fav.2_Silent_p.L682L|MCF2_uc011mwl.1_Silent_p.L643L|MCF2_uc010nsh.1_Silent_p.L666L|MCF2_uc011mwm.1_Silent_p.L627L|MCF2_uc011mwn.1_Silent_p.L811L|MCF2_uc004faw.2_Silent_p.L726L|MCF2_uc011mwo.1_Silent_p.L742L NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 666 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TCAGTAAATCCAGCATTGCAT 0.294 44 123 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138679723 138679723 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:138679723C>A uc004fau.2 - 18 2245 c.1951G>T c.(1951-1953)GAC>TAC p.D651Y MCF2_uc004fav.2_Missense_Mutation_p.D667Y|MCF2_uc011mwl.1_Missense_Mutation_p.D628Y|MCF2_uc010nsh.1_Missense_Mutation_p.D651Y|MCF2_uc011mwm.1_Missense_Mutation_p.D612Y|MCF2_uc011mwn.1_Missense_Mutation_p.D796Y|MCF2_uc004faw.2_Missense_Mutation_p.D711Y|MCF2_uc011mwo.1_Missense_Mutation_p.D727Y NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 651 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) CCTTCACAGTCTTTGCTATAT 0.338 34 83 --- --- --- --- PASS MAGEA10 4109 broad.mit.edu 37 X 151303347 151303347 + Missense_Mutation SNP G T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:151303347G>T uc004ffk.2 - 5 1154 c.746C>A c.(745-747)GCA>GAA p.A249E MAGEA10_uc004ffl.2_Missense_Mutation_p.A249E NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 249 MAGE. 0 Acute lymphoblastic leukemia(192;6.56e-05) CATATTCAGTGCTTCCCAGAT 0.512 67 98 --- --- --- --- PASS GABRA3 2556 broad.mit.edu 37 X 151424346 151424346 + Missense_Mutation SNP A T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:151424346A>T uc010ntk.1 - 5 695 c.455T>A c.(454-456)TTC>TAC p.F152Y NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 152 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ATTGTGGAAGAAGGTGTCCGG 0.488 110 153 --- --- --- --- PASS MIR105-1 406897 broad.mit.edu 37 X 151560708 151560708 + RNA SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:151560708G>A hsa-mir-105-1|MI0000111 - c.64G>A GABRA3_uc010ntk.1_Intron|uc004ffo.2_RNA 0 CGTAGCACATGCTCAAACATC 0.463 17 24 --- --- --- --- PASS GABRQ 55879 broad.mit.edu 37 X 151818344 151818344 + Splice_Site SNP T A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:151818344T>A uc004ffp.1 + 6 768 c.748_splice c.e6+2 p.G250_splice NM_018558 NP_061028 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) receptor, theta cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) TCTACACAGGTGGGTCTGACC 0.512 73 130 --- --- --- --- PASS TREX2 11219 broad.mit.edu 37 X 152710223 152710223 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:152710223G>A uc010nue.1 - 3 908 c.792C>T c.(790-792)ATC>ATT p.I264I TREX2_uc010nud.1_Silent_p.I222I|TREX2_uc011myp.1_Silent_p.I222I|HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA NM_080701 NP_542432 Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 265 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding large_intestine(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACATGGGCTCGATGTGGGCCC 0.687 Editing_and_processing_nucleases 3 3 --- --- --- --- PASS ABCD1 215 broad.mit.edu 37 X 153001941 153001941 + Missense_Mutation SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:153001941G>A uc004fif.2 + 4 1766 c.1367G>A c.(1366-1368)CGT>CAT p.R456H ABCD1_uc004fig.2_5'Flank NM_000033 NP_000024 P33897 ABCD1_HUMAN ATP-binding cassette, sub-family D (ALD), member 456 fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity 0 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGGTGTCCGTGTGGAGGGC 0.632 22 34 --- --- --- --- PASS FLNA 2316 broad.mit.edu 37 X 153582818 153582818 + Silent SNP G A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:153582818G>A uc004fkk.2 - 33 5596 c.5347C>T c.(5347-5349)CTG>TTG p.L1783L FLNA_uc004fki.2_5'Flank|FLNA_uc011mzn.1_5'UTR|FLNA_uc010nuu.1_Silent_p.L1775L NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1783 Filamin 16. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) GTCACATCCAGCCCATTGACA 0.622 26 33 --- --- --- --- PASS PLXNA3 55558 broad.mit.edu 37 X 153697756 153697756 + Silent SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:153697756C>A uc004flm.2 + 27 4802 c.4629C>A c.(4627-4629)CTC>CTA p.L1543L NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1543 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) GCATCATCCTCCAGGATGAGG 0.607 58 72 --- --- --- --- PASS PLXNA3 55558 broad.mit.edu 37 X 153697757 153697757 + Missense_Mutation SNP C A A TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:153697757C>A uc004flm.2 + 27 4803 c.4630C>A c.(4630-4632)CAG>AAG p.Q1544K NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 1544 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) CATCATCCTCCAGGATGAGGA 0.612 55 71 --- --- --- --- PASS F8 2157 broad.mit.edu 37 X 154250707 154250707 + Missense_Mutation SNP C A A rs137852379 TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:154250707C>A uc004fmt.2 - 1 292 c.121G>T c.(121-123)GGT>TGT p.G41C F8_uc011mzx.1_Intron NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 41 Plastocyanin-like 1.|F5/8 type A 1. G -> C (in HEMA; severe/moderate). acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) GGCAGCTCACCGAGATCACTT 0.517 128 193 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 1 700514 700514 + RNA DEL A - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr1:700514delA uc001abo.2 - 7 c.1040delT Homo sapiens cDNA clone IMAGE:4129277, partial cds. actccatctcaaaaaaaaaaa 0.179 5 3 --- --- --- --- LRRTM1 347730 broad.mit.edu 37 2 80530767 80530767 + Frame_Shift_Del DEL C - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:80530767delC uc002sok.1 - 2 448 c.178delG c.(178-180)GCGfs p.A60fs CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 60 LRRNT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TTGTGGGGCGCCTCGGTGAGG 0.701 HNSCC(69;0.2) 50 26 --- --- --- --- NEB 4703 broad.mit.edu 37 2 152529031 152529031 + Frame_Shift_Del DEL G - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr2:152529031delG uc010fnx.2 - 37 4342 c.4151delC c.(4150-4152)CCTfs p.P1384fs NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 1384 Nebulin 35. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CATGTCCCCAGGGGTATGGTA 0.468 128 78 --- --- --- --- SP4 6671 broad.mit.edu 37 7 21468304 21468306 + In_Frame_Del DEL AGG - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr7:21468304_21468306delAGG uc003sva.2 + 2 198_200 c.17_19delAGG c.(16-21)AAGGAG>AAG p.E11del SP4_uc003svb.2_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 11 Poly-Glu. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 GATCAGAAGAAGGAGGAGGAGGA 0.517 4 2 --- --- --- --- NR1H4 9971 broad.mit.edu 37 12 100904587 100904587 + Frame_Shift_Del DEL G - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr12:100904587delG uc001tht.1 + 2 169 c.141delG c.(139-141)CTGfs p.L47fs NR1H4_uc001thp.1_Frame_Shift_Del_p.L37fs|NR1H4_uc001thq.1_Frame_Shift_Del_p.L37fs|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Frame_Shift_Del_p.L37fs|NR1H4_uc010svk.1_Frame_Shift_Del_p.L37fs|NR1H4_uc001ths.1_Frame_Shift_Del_p.L47fs NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 47 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 CAGGTCCTCTGGGACAGAACC 0.438 53 31 --- --- --- --- Unknown 0 broad.mit.edu 37 16 90204189 90204190 + RNA INS - T T TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr16:90204189_90204190insT uc002fqr.2 + 9 c.1571_1572insT Homo sapiens cDNA FLJ35239 fis, clone PROST2002212. TCCCAAAGGAAttttttttttt 0.213 4 3 --- --- --- --- SERPINF1 5176 broad.mit.edu 37 17 1673345 1673346 + Splice_Site INS - TC TC TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr17:1673345_1673346insTC uc002ftl.2 + 3 440 c.283_splice c.e3+1 p.G95_splice SERPINF1_uc010cjw.2_Intron NM_002615 NP_002606 P36955 PEDF_HUMAN serine (or cysteine) proteinase inhibitor, clade cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis extracellular space|melanosome serine-type endopeptidase inhibitor activity ovary(1) 1 CTCTCGCTGGGTGAGTGCTCAG 0.624 15 14 --- --- --- --- ZNF211 10520 broad.mit.edu 37 19 58153213 58153214 + Frame_Shift_Del DEL TG - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chr19:58153213_58153214delTG uc002qpq.2 + 3 1539_1540 c.1359_1360delTG c.(1357-1362)TATGTGfs p.Y453fs ZNF211_uc010yhb.1_Frame_Shift_Del_p.Y457fs|ZNF211_uc002qpp.2_Frame_Shift_Del_p.Y466fs|ZNF211_uc002qpr.2_Frame_Shift_Del_p.Y517fs|ZNF211_uc002qps.2_Frame_Shift_Del_p.Y518fs|ZNF211_uc002qpt.2_Frame_Shift_Del_p.Y465fs|ZNF211_uc010yhc.1_Frame_Shift_Del_p.Y465fs|ZNF211_uc010yhd.1_Frame_Shift_Del_p.Y392fs|ZNF211_uc010yhe.1_Frame_Shift_Del_p.Y444fs NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 453_454 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAGGCCTTATGTGTGTGGGGA 0.470 86 53 --- --- --- --- PGAM4 441531 broad.mit.edu 37 X 77224391 77224391 + Frame_Shift_Del DEL G - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:77224391delG uc004ecy.1 - 1 745 c.745delC c.(745-747)CAGfs p.Q249fs ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.3_Intron NM_001029891 NP_001025062 Q8N0Y7 PGAM4_HUMAN bisphosphoglycerate mutase 4 249 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity 0 GCCTTGCCCTGGGCAGCCACA 0.572 95 46 --- --- --- --- PNMA5 114824 broad.mit.edu 37 X 152159576 152159576 + Frame_Shift_Del DEL C - - TCGA-66-2757-01A-01D-1522-08 TCGA-66-2757-11A-01D-1522-08 Somatic Phase_I Capture Illumina GAIIx 1886dba0-4662-4342-84ac-96af0beb2393 17ef241d-f6fa-4663-8d60-c0bd5931ac96 g.chrX:152159576delC uc010ntw.2 - 3 906 c.567delG c.(565-567)TGGfs p.W189fs PNMA5_uc004fha.3_Frame_Shift_Del_p.W189fs|PNMA5_uc010ntx.2_Frame_Shift_Del_p.W189fs|PNMA5_uc004fgy.3_Frame_Shift_Del_p.W189fs NM_001103151 NP_001096621 Q96PV4 PNMA5_HUMAN paraneoplastic antigen like 5 189 apoptosis ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(192;6.56e-05) CAGACACTTGCCATATGGGCA 0.532 101 66 --- --- --- ---