Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele filter CCDC27 148870 broad.mit.edu 37 1 3670758 3670758 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:3670758C>A uc001akv.2 + 2 476 c.395C>A c.(394-396)CCT>CAT p.P132H NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 132 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CCCACGCATCCTGACTGCCCC 0.602 93 94 --- --- --- --- PASS PIK3CD 5293 broad.mit.edu 37 1 9782144 9782144 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:9782144G>A uc001aqb.3 + 17 2375 c.2167G>A c.(2167-2169)GCC>ACC p.A723T PIK3CD_uc010oaf.1_Missense_Mutation_p.A722T|PIK3CD_uc001aqe.3_Missense_Mutation_p.A747T NM_005026 NP_005017 O00329 PK3CD_HUMAN catalytic phosphatidylinositol 3-kinase delta 723 phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(4)|skin(2)|central_nervous_system(1) 7 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) GCGGCAGGAGGCCTACCTAGA 0.622 OREG0013082 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 40 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11562836 11562836 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:11562836C>A uc001ash.3 + 3 1336 c.1198C>A c.(1198-1200)CTG>ATG p.L400M PTCHD2_uc001asi.1_Missense_Mutation_p.L400M NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 400 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) CAGTGAGATCCTGTTTGGAGC 0.562 47 38 --- --- --- --- PASS ARID1A 8289 broad.mit.edu 37 1 27106599 27106599 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:27106599G>T uc001bmv.1 + 20 6583 c.6210G>T c.(6208-6210)CAG>CAT p.Q2070H ARID1A_uc001bmu.1_Missense_Mutation_p.Q1853H|ARID1A_uc001bmx.1_Missense_Mutation_p.Q916H|ARID1A_uc009vsm.1_Missense_Mutation_p.Q398H|ARID1A_uc009vsn.1_Missense_Mutation_p.Q312H NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2070 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCTCGGGGCAGTTGGACCTAT 0.572 Mis|N|F|S|D clear cell ovarian carcinoma|RCC 57 52 --- --- --- --- PASS KIAA0494 9813 broad.mit.edu 37 1 47150268 47150268 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:47150268C>G uc001cqk.3 - 9 2058 c.1081G>C c.(1081-1083)GAT>CAT p.D361H KIAA0494_uc010omh.1_Missense_Mutation_p.D297H|KIAA0494_uc010omj.1_Missense_Mutation_p.D153H|KIAA0494_uc001cql.1_Missense_Mutation_p.D361H NM_014774 NP_055589 O75071 K0494_HUMAN hypothetical protein LOC9813 361 calcium ion binding 0 Acute lymphoblastic leukemia(166;0.155) TTTGAACTATCTTCTTTCTGC 0.343 3 86 --- --- --- --- PASS ASB17 127247 broad.mit.edu 37 1 76397808 76397808 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:76397808A>G uc001dhe.1 - 1 309 c.169T>C c.(169-171)TAT>CAT p.Y57H ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 57 intracellular signal transduction ovary(1) 1 AAGTCCACATACCTCAGAATT 0.398 50 36 --- --- --- --- PASS LPAR3 23566 broad.mit.edu 37 1 85331494 85331494 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:85331494G>A uc001dkl.2 - 1 349 c.310C>T c.(310-312)CTC>TTC p.L104F LPAR3_uc009wcj.1_Missense_Mutation_p.L104F NM_012152 NP_036284 Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 104 Helical; Name=3; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle lung(3)|ovary(2) 5 CCCTGACGGAGAAACCAGCGG 0.493 110 85 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 93163484 93163484 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:93163484C>A uc001dox.2 - 6 840 c.830G>T c.(829-831)CGT>CTT p.R277L EVI5_uc010otf.1_Missense_Mutation_p.R277L NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 277 Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Rab-GAP TBC. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) AAAAAGTTCACGAAGTCTATA 0.328 76 58 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154067592 154067592 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:154067592G>T uc001fdw.2 - 15 2078 c.2006C>A c.(2005-2007)TCT>TAT p.S669Y NUP210L_uc009woq.2_Translation_Start_Site|NUP210L_uc010peh.1_Missense_Mutation_p.S669Y NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 669 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TTCCTTCACAGACTGCCATGT 0.403 18 83 --- --- --- --- PASS HDGF 3068 broad.mit.edu 37 1 156713634 156713634 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:156713634C>T uc001fpy.3 - 5 848 c.526G>A c.(526-528)GAA>AAA p.E176K MRPL24_uc001fpw.1_5'Flank|MRPL24_uc001fpx.1_5'Flank|HDGF_uc009wsd.2_Missense_Mutation_p.E144K|HDGF_uc001fpz.3_Missense_Mutation_p.E169K|HDGF_uc009wse.2_Missense_Mutation_p.E192K|HDGF_uc010phr.1_Missense_Mutation_p.E199K|HDGF_uc009wsf.2_Missense_Mutation_p.E144K|HDGF_uc009wsg.2_Missense_Mutation_p.E176K NM_004494 NP_004485 P51858 HDGF_HUMAN hepatoma-derived growth factor isoform a 176 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding lung(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) TCCTCTCCTTCAGGGTTTTCT 0.612 6 97 --- --- --- --- PASS OR10R2 343406 broad.mit.edu 37 1 158450081 158450081 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:158450081G>T uc010pik.1 + 1 414 c.414G>T c.(412-414)ATG>ATT p.M138I uc001fso.1_RNA NM_001004472 NP_001004472 Q8NGX6 O10R2_HUMAN olfactory receptor, family 10, subfamily R, 138 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) TGGGTGTGATGGGTTATGATC 0.483 74 495 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176679237 176679237 + Silent SNP T G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:176679237T>G uc001gkz.2 + 11 4740 c.3576T>G c.(3574-3576)GCT>GCG p.A1192A PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1192 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ATCAATGGGCTACCCGGGCTT 0.443 96 61 --- --- --- --- PASS RASAL2 9462 broad.mit.edu 37 1 178427316 178427316 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:178427316G>A uc001glr.2 + 12 2591 c.2466G>A c.(2464-2466)AAG>AAA p.K822K RASAL2_uc001glq.2_Silent_p.K963K|RASAL2_uc009wxc.2_Silent_p.K336K NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 822 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 AAGACTTCAAGCTCAGTGGAC 0.483 80 76 --- --- --- --- PASS CACNA1S 779 broad.mit.edu 37 1 201047035 201047035 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:201047035G>A uc001gvv.2 - 11 1818 c.1591C>T c.(1591-1593)CGC>TGC p.R531C NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 531 II.|Helical; Name=S4 of repeat II; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTCAGGAGGCGGATGCAGCGG 0.647 4 68 --- --- --- --- PASS FAIM3 9214 broad.mit.edu 37 1 207087143 207087143 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:207087143G>T uc001hey.2 - 2 513 c.334C>A c.(334-336)CGG>AGG p.R112R FAIM3_uc010prz.1_Intron|FAIM3_uc010psa.1_Intron|FAIM3_uc010psb.1_Silent_p.R112R NM_005449 NP_005440 O60667 FAIM3_HUMAN Fas apoptotic inhibitory molecule 3 isoform a 112 Extracellular (Potential). anti-apoptosis|cellular defense response integral to membrane central_nervous_system(1) 1 Breast(84;0.201) GTCTTTCCCCGGTCTGTGTTC 0.517 73 89 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237532900 237532900 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:237532900A>G uc001hyl.1 + 6 496 c.376A>G c.(376-378)AGT>GGT p.S126G NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 126 Cytoplasmic (By similarity).|MIR 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCATTCCTATAGTGGCATGGT 0.413 5 4 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237936851 237936851 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:237936851C>A uc001hyl.1 + 87 11798 c.11678C>A c.(11677-11679)TCT>TAT p.S3893Y RYR2_uc010pya.1_Missense_Mutation_p.S308Y NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3893 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGGTATTACTCTGGGAAAGAT 0.333 18 69 --- --- --- --- PASS MAP1LC3C 440738 broad.mit.edu 37 1 242159552 242159552 + Silent SNP G A A rs147920150 byFrequency TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:242159552G>A uc001hzk.2 - 4 432 c.357C>T c.(355-357)TAC>TAT p.Y119Y NM_001004343 NP_001004343 Q9BXW4 MLP3C_HUMAN microtubule-associated protein 1 light chain 3 119 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCTGGGAGGCGTAGGTCATGT 0.562 6 176 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343796 248343796 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:248343796G>T uc010pzf.1 + 1 509 c.509G>T c.(508-510)GGG>GTG p.G170V NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TCCTTTTGTGGGTCTCGGGAA 0.423 98 314 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343797 248343797 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:248343797G>T uc010pzf.1 + 1 510 c.510G>T c.(508-510)GGG>GGT p.G170G NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 170 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CCTTTTGTGGGTCTCGGGAAA 0.423 96 315 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48915452 48915452 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:48915452G>A uc002rwu.3 - 11 1554 c.1484C>T c.(1483-1485)TCT>TTT p.S495F GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 495 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) AGCAATTAGAGAAGAAAAGAG 0.438 Familial_Male-Limited_Precocious_Puberty 64 64 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71886131 71886131 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:71886131T>C uc002sie.2 + 43 5138 c.4762T>C c.(4762-4764)TTT>CTT p.F1588L DYSF_uc010feg.2_Missense_Mutation_p.F1619L|DYSF_uc010feh.2_Missense_Mutation_p.F1595L|DYSF_uc002sig.3_Missense_Mutation_p.F1574L|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.F1609L|DYSF_uc010fef.2_Missense_Mutation_p.F1626L|DYSF_uc010fei.2_Missense_Mutation_p.F1605L|DYSF_uc010fek.2_Missense_Mutation_p.F1606L|DYSF_uc010fej.2_Missense_Mutation_p.F1596L|DYSF_uc010fel.2_Missense_Mutation_p.F1575L|DYSF_uc010feo.2_Missense_Mutation_p.F1620L|DYSF_uc010fem.2_Missense_Mutation_p.F1610L|DYSF_uc010fen.2_Missense_Mutation_p.F1627L|DYSF_uc002sif.2_Missense_Mutation_p.F1589L|DYSF_uc010yqy.1_Missense_Mutation_p.F469L|DYSF_uc010yqz.1_Missense_Mutation_p.F349L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1588 Cytoplasmic (Potential).|C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 TGTCCGAGCATTTGGCCTGCA 0.592 21 144 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79313940 79313940 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:79313940C>A uc002sny.2 - 3 293 c.181G>T c.(181-183)GAT>TAT p.D61Y REG1B_uc010ffv.1_Missense_Mutation_p.D61Y|REG1B_uc010ffw.2_Missense_Mutation_p.D61Y NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 61 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 TCACTCACATCTGCATCAACC 0.507 48 142 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89475835 89475835 + RNA SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:89475835A>G uc010ytr.1 - 28 c.3646T>C uc002stl.2_Intron Parts of antibodies, mostly variable regions. GCTTGCATGCAGTAATAAACC 0.522 83 42 --- --- --- --- PASS TEKT4 150483 broad.mit.edu 37 2 95539813 95539813 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:95539813G>A uc002stw.1 + 3 766 c.673G>A c.(673-675)GAG>AAG p.E225K uc002stv.1_Intron|TEKT4_uc010fhr.1_RNA NM_144705 NP_653306 Q8WW24 TEKT4_HUMAN tektin 4 225 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|breast(1)|skin(1) 3 CCAGAGCACCGAGGTGCAGGC 0.642 61 54 --- --- --- --- PASS ACTR1B 10120 broad.mit.edu 37 2 98275028 98275028 + Silent SNP G C C rs147014229 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:98275028G>C uc002syb.2 - 6 727 c.519C>G c.(517-519)GGC>GGG p.G173G NM_005735 NP_005726 P42025 ACTY_HUMAN ARP1 actin-related protein 1 homolog B, 173 centrosome|dynactin complex ATP binding|protein binding skin(1) 1 GCATGGCAAAGCCCTCATAGA 0.607 5 212 --- --- --- --- PASS REV1 51455 broad.mit.edu 37 2 100065857 100065857 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:100065857A>T uc002tad.2 - 4 503 c.291T>A c.(289-291)AAT>AAA p.N97K REV1_uc002tac.2_Missense_Mutation_p.N97K|REV1_uc002tae.1_Missense_Mutation_p.N76K NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 97 BRCT. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 TAATTTTGGCATTGGGAAGAT 0.289 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 150 105 --- --- --- --- PASS AFF3 3899 broad.mit.edu 37 2 100203674 100203674 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:100203674G>C uc002tag.2 - 15 2769 c.2533C>G c.(2533-2535)CTG>GTG p.L845V AFF3_uc002taf.2_Missense_Mutation_p.L870V|AFF3_uc010fiq.1_Missense_Mutation_p.L845V|AFF3_uc010yvr.1_Missense_Mutation_p.L998V|AFF3_uc002tah.1_Missense_Mutation_p.L870V NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 845 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GAGGTGGCCAGTCTTGAAGAG 0.473 77 315 --- --- --- --- PASS IL1R2 7850 broad.mit.edu 37 2 102636197 102636197 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:102636197A>G uc002tbm.2 + 5 840 c.611A>G c.(610-612)TAT>TGT p.Y204C IL1R2_uc002tbn.2_Missense_Mutation_p.Y204C|IL1R2_uc002tbo.1_Missense_Mutation_p.Y204C NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 204 Extracellular (Potential).|Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) GATGCTGGCTATTACCGCTGT 0.458 15 80 --- --- --- --- PASS SLC35F5 80255 broad.mit.edu 37 2 114512814 114512814 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:114512814C>T uc002tku.1 - 3 625 c.201G>A c.(199-201)AGG>AGA p.R67R SLC35F5_uc002tkt.2_RNA|SLC35F5_uc002tkv.2_Silent_p.R61R|SLC35F5_uc002tkw.2_Silent_p.R67R NM_025181 NP_079457 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 67 transport integral to membrane 0 GAGCCATTCGCCTGCGCTGAG 0.413 22 84 --- --- --- --- PASS GYPC 2995 broad.mit.edu 37 2 127447886 127447886 + Silent SNP A C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:127447886A>C uc002tnq.2 + 2 261 c.105A>C c.(103-105)GCA>GCC p.A35A GYPC_uc002tnr.2_Intron|GYPC_uc010flv.2_RNA NM_002101 NP_002092 P04921 GLPC_HUMAN glycophorin C isoform 1 35 Extracellular. cortical cytoskeleton|integral to plasma membrane protein binding central_nervous_system(1) 1 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) CCACCATTGCAGGTGAGTTCT 0.527 62 30 --- --- --- --- PASS NCKAP5 344148 broad.mit.edu 37 2 133489454 133489454 + Nonsense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:133489454G>A uc002ttp.2 - 17 5673 c.5299C>T c.(5299-5301)CAA>TAA p.Q1767* NCKAP5_uc002ttq.2_Nonsense_Mutation_p.Q448* NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1767 protein binding 0 TCAAGGGTTTGGGCTCTCATG 0.592 51 51 --- --- --- --- PASS SLC4A10 57282 broad.mit.edu 37 2 162751258 162751258 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:162751258G>A uc002ubx.3 + 11 1448 c.1264G>A c.(1264-1266)GAT>AAT p.D422N SLC4A10_uc010fpa.1_Missense_Mutation_p.D434N|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Missense_Mutation_p.D392N|SLC4A10_uc010zcs.1_Missense_Mutation_p.D403N NM_022058 NP_071341 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate 422 Cytoplasmic (Potential). bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity ovary(2)|lung(2)|pancreas(1) 5 TGAGTTTCTGGATCAGGTTAC 0.358 15 46 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166165901 166165901 + Silent SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:166165901G>C uc002udc.2 + 6 935 c.645G>C c.(643-645)GCG>GCC p.A215A SCN2A_uc002udd.2_Silent_p.A215A|SCN2A_uc002ude.2_Intron NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 215 Helical; Voltage-sensor; Name=S4 of repeat I; (Potential).|I. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) ATGTCTCAGCGTTGAGAACAT 0.438 52 52 --- --- --- --- PASS CIR1 9541 broad.mit.edu 37 2 175213308 175213308 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:175213308G>A uc002uim.2 - 10 1363 c.1270C>T c.(1270-1272)CAT>TAT p.H424Y CIR1_uc002uin.2_Missense_Mutation_p.H298Y|CIR1_uc002uio.2_Missense_Mutation_p.H251Y|CIR1_uc002uip.2_Missense_Mutation_p.H313Y NM_004882 NP_004873 Q86X95 CIR1_HUMAN CBF1 interacting corepressor 424 Arg/Ser-rich (RS domain). mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing nuclear speck protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity large_intestine(1) 1 TCTGTGCCATGGCTTCTGCTG 0.463 165 270 --- --- --- --- PASS WIPF1 7456 broad.mit.edu 37 2 175436784 175436784 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:175436784G>A uc002uiy.2 - 6 1081 c.749C>T c.(748-750)CCT>CTT p.P250L uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.P250L|WIPF1_uc010fqt.1_Missense_Mutation_p.P250L|WIPF1_uc002ujc.1_Missense_Mutation_p.P250L|WIPF1_uc002uiz.2_Missense_Mutation_p.P250L|WIPF1_uc002ujb.1_Missense_Mutation_p.P250L|WIPF1_uc010zep.1_Missense_Mutation_p.P250L NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 250 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 CGGCAGGGGAGGCCGGTTGGA 0.657 9 8 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179588322 179588322 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:179588322T>A uc010zfg.1 - 71 17997 c.17773A>T c.(17773-17775)AAC>TAC p.N5925Y TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N2586Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6852 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) CTGAACCAGTTGACTTTGAAT 0.418 27 35 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196737067 196737067 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:196737067G>T uc002utj.3 - 40 6641 c.6540C>A c.(6538-6540)CTC>CTA p.L2180L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2180 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AGAAATCACGGAGGTTGAACA 0.393 4 137 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196849409 196849409 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:196849409C>A uc002utj.3 - 15 1881 c.1780G>T c.(1780-1782)GCT>TCT p.A594S NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 594 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GCTTTTTCAGCTATCCTCTCA 0.308 26 81 --- --- --- --- PASS SATB2 23314 broad.mit.edu 37 2 200137310 200137310 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:200137310T>C uc002uuy.1 - 11 2643 c.1826A>G c.(1825-1827)GAC>GGC p.D609G SATB2_uc010fsq.1_Missense_Mutation_p.D491G|SATB2_uc002uuz.1_Missense_Mutation_p.D609G|SATB2_uc002uva.1_Missense_Mutation_p.D609G NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 609 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 GGCACAACTGTCTTCAGTCGG 0.527 33 109 --- --- --- --- PASS AOX1 316 broad.mit.edu 37 2 201521602 201521602 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:201521602T>C uc002uvx.2 + 27 3214 c.3113T>C c.(3112-3114)GTG>GCG p.V1038A AOX1_uc010zhf.1_Missense_Mutation_p.V594A|AOX1_uc010fsu.2_Missense_Mutation_p.V404A NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 1038 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GATGGCTCTGTGCTGGTCACT 0.423 21 59 --- --- --- --- PASS ACADL 33 broad.mit.edu 37 2 211082716 211082716 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:211082716T>A uc002vdz.3 - 3 572 c.344A>T c.(343-345)TAC>TTC p.Y115F ACADL_uc010zjg.1_Missense_Mutation_p.Y115F NM_001608 NP_001599 P28330 ACADL_HUMAN long-chain acyl-CoA dehydrogenase precursor 115 carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis mitochondrial matrix long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity 0 Renal(323;0.202) Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621) AGCTGCGGAGTACAGATCCCC 0.438 12 70 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212989624 212989624 + Nonsense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:212989624A>T uc002veg.1 - 2 185 c.87T>A c.(85-87)TGT>TGA p.C29* ERBB4_uc002veh.1_Nonsense_Mutation_p.C29*|ERBB4_uc010zji.1_Nonsense_Mutation_p.C29*|ERBB4_uc010zjj.1_Nonsense_Mutation_p.C29*|ERBB4_uc010fut.1_Nonsense_Mutation_p.C29* NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 29 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCGTTCCTGCACACACTGCAA 0.423 TSP Lung(8;0.080) 19 19 --- --- --- --- PASS FN1 2335 broad.mit.edu 37 2 216274441 216274441 + Missense_Mutation SNP G A A rs144664306 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:216274441G>A uc002vfa.2 - 15 2410 c.2144C>T c.(2143-2145)ACG>ATG p.T715M FN1_uc002vfb.2_Missense_Mutation_p.T715M|FN1_uc002vfc.2_Missense_Mutation_p.T715M|FN1_uc002vfd.2_Missense_Mutation_p.T715M|FN1_uc002vfe.2_Missense_Mutation_p.T715M|FN1_uc002vff.2_Missense_Mutation_p.T715M|FN1_uc002vfg.2_Missense_Mutation_p.T715M|FN1_uc002vfh.2_Missense_Mutation_p.T715M|FN1_uc002vfi.2_Missense_Mutation_p.T715M|FN1_uc002vfj.2_Missense_Mutation_p.T715M NM_212482 NP_997647 P02751 FINC_HUMAN fibronectin 1 isoform 1 preproprotein 715 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) AAAGGGAGTCGTCTCTCCTGT 0.502 11 28 --- --- --- --- PASS ASB18 401036 broad.mit.edu 37 2 237149976 237149976 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:237149976T>C uc010znh.1 - 2 275 c.275A>G c.(274-276)AAT>AGT p.N92S ASB18_uc010fyp.1_Missense_Mutation_p.N63S NM_212556 NP_997721 Q6ZVZ8 ASB18_HUMAN ankyrin repeat and SOCS box-containing 18 92 intracellular signal transduction ovary(1) 1 all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815) Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244) CTCATCCTTATTGATCTCAAA 0.498 16 42 --- --- --- --- PASS GPR35 2859 broad.mit.edu 37 2 241569781 241569781 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:241569781G>A uc002vzs.1 + 1 987 c.412G>A c.(412-414)GCG>ACG p.A138T GPR35_uc010fzh.1_Missense_Mutation_p.A169T|GPR35_uc010fzi.1_Missense_Mutation_p.A169T NM_005301 NP_005292 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 138 Helical; Name=4; (Potential). integral to plasma membrane G-protein coupled receptor activity skin(2)|pancreas(1) 3 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;5.29e-32)|all cancers(36;1.38e-29)|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;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) GGCCGTGTGCGCGGTCCTCTG 0.706 8 10 --- --- --- --- PASS GADL1 339896 broad.mit.edu 37 3 30842566 30842566 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:30842566T>A uc003cep.2 - 12 1112 c.1065A>T c.(1063-1065)AAA>AAT p.K355N GADL1_uc003ceq.1_Missense_Mutation_p.K355N NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 355 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) CAGAGTAGCATTTTTTAAGAA 0.368 37 27 --- --- --- --- PASS ZNF502 91392 broad.mit.edu 37 3 44761767 44761767 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:44761767A>T uc011baa.1 + 3 269 c.14A>T c.(13-15)CAA>CTA p.Q5L ZNF502_uc003cns.2_Missense_Mutation_p.Q5L|ZNF502_uc011bab.1_Missense_Mutation_p.Q5L|ZNF502_uc003cnt.2_Missense_Mutation_p.Q5L NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 5 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) TTGAATATGCAAGGAGCTGAA 0.478 41 28 --- --- --- --- PASS IQCF3 401067 broad.mit.edu 37 3 51864598 51864598 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:51864598G>T uc010hlx.1 + 5 587 c.246G>T c.(244-246)CTG>CTT p.L82L IQCF1_uc003dbq.3_Intron|IQCF3_uc010hlw.1_RNA|IQCF3_uc011bdw.1_RNA NM_001085479 NP_001078948 P0C7M6 IQCF3_HUMAN IQ motif containing F3 82 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGCAGGCCCTGTTGAGGGTCT 0.622 26 21 --- --- --- --- PASS C3orf64 285203 broad.mit.edu 37 3 69054327 69054327 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:69054327T>C uc003dnl.2 - 7 884 c.479A>G c.(478-480)TAT>TGT p.Y160C C3orf64_uc003dnk.2_Missense_Mutation_p.Y160C|C3orf64_uc011bfw.1_RNA|C3orf64_uc003dnm.1_RNA NM_173654 NP_775925 Q5NDL2 AER61_HUMAN AER61 glycosyltransferase 160 extracellular region transferase activity, transferring glycosyl groups ovary(1) 1 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) TAAATCAAGATAGAGATTGGT 0.353 3 95 --- --- --- --- PASS PAQR9 344838 broad.mit.edu 37 3 142681325 142681325 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:142681325A>T uc003evg.2 - 1 854 c.854T>A c.(853-855)GTG>GAG p.V285E PAQR9_uc003evf.1_RNA NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 285 Extracellular (Potential). integral to membrane receptor activity 0 GGCGGCCACCACCAGCCAGAA 0.597 8 147 --- --- --- --- PASS PAQR9 344838 broad.mit.edu 37 3 142681705 142681705 + Nonsense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:142681705G>C uc003evg.2 - 1 474 c.474C>G c.(472-474)TAC>TAG p.Y158* PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 158 Cytoplasmic (Potential). integral to membrane receptor activity 0 TGATGGACGCGTAGTCCAGGT 0.612 14 63 --- --- --- --- PASS PAQR9 344838 broad.mit.edu 37 3 142681846 142681846 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:142681846G>T uc003evg.2 - 1 333 c.333C>A c.(331-333)GAC>GAA p.D111E PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 111 Extracellular (Potential). integral to membrane receptor activity 0 GGAAGGGCACGTCGCCGCCGC 0.622 14 60 --- --- --- --- PASS CHST2 9435 broad.mit.edu 37 3 142841059 142841059 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:142841059G>T uc003evm.2 + 2 2290 c.1401G>T c.(1399-1401)AAG>AAT p.K467N NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 467 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 CCTCCTCCAAGCCTTTCGTGG 0.577 22 118 --- --- --- --- PASS DHX36 170506 broad.mit.edu 37 3 154010470 154010470 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:154010470C>T uc003ezy.3 - 15 1765 c.1684G>A c.(1684-1686)GAT>AAT p.D562N DHX36_uc010hvq.2_Missense_Mutation_p.D548N|DHX36_uc003ezz.3_Missense_Mutation_p.D562N NM_020865 NP_065916 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 562 Helicase C-terminal. 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) TAAACGACATCATCTATGGTA 0.274 7 320 --- --- --- --- PASS GOLIM4 27333 broad.mit.edu 37 3 167750570 167750570 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:167750570T>C uc003ffe.2 - 9 1258 c.914A>G c.(913-915)TAT>TGT p.Y305C GOLIM4_uc011bpe.1_Missense_Mutation_p.Y305C|GOLIM4_uc011bpf.1_Missense_Mutation_p.Y277C|GOLIM4_uc011bpg.1_Missense_Mutation_p.Y277C NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 305 Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 GGTGGGAGCATAGAGTTTTGT 0.507 78 247 --- --- --- --- PASS TNIK 23043 broad.mit.edu 37 3 170811627 170811627 + Splice_Site SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:170811627C>T uc003fhh.2 - 23 3066 c.2721_splice c.e23+1 p.E907_splice TNIK_uc003fhi.2_Splice_Site_p.E852_splice|TNIK_uc003fhj.2_Splice_Site_p.E878_splice|TNIK_uc003fhk.2_Splice_Site_p.E899_splice|TNIK_uc003fhl.2_Splice_Site_p.E823_splice|TNIK_uc003fhm.2_Splice_Site_p.E844_splice|TNIK_uc003fhn.2_Splice_Site_p.E870_splice|TNIK_uc003fho.2_Splice_Site_p.E815_splice|TNIK_uc003fhg.2_Splice_Site_p.E85_splice NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) TACCAACTTACCTCTCTAATC 0.423 11 142 --- --- --- --- PASS DCUN1D1 54165 broad.mit.edu 37 3 182683507 182683507 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:182683507C>T uc003fld.1 - 2 87 c.38G>A c.(37-39)CGT>CAT p.R13H DCUN1D1_uc011bqn.1_5'UTR NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 13 UBA-like. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CATAAACTGACGAACTTTATC 0.303 44 400 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195517097 195517097 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:195517097G>A uc011bto.1 - 2 1814 c.1354C>T c.(1354-1356)CAC>TAC p.H452Y MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.H334Y NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 457 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGCTGGGTGTGGAAAGCTGTG 0.473 485 187 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196654678 196654678 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:196654678G>T uc003fwz.3 + 8 2283 c.2034G>T c.(2032-2034)AAG>AAT p.K678N SENP5_uc011bty.1_Missense_Mutation_p.K632N NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 678 Protease. cell cycle|cell division|proteolysis nucleolus cysteine-type peptidase activity breast(2)|lung(1) 3 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.004) ATATAAGAAAGTATTTGCTGA 0.403 99 44 --- --- --- --- PASS LMLN 89782 broad.mit.edu 37 3 197762799 197762799 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:197762799G>A uc011buo.1 + 15 1774 c.1752G>A c.(1750-1752)ATG>ATA p.M584I LMLN_uc003fyt.2_Missense_Mutation_p.M569I|LMLN_uc010iar.2_Missense_Mutation_p.M621I|LMLN_uc010ias.2_Missense_Mutation_p.M532I|LMLN_uc003fyu.2_Missense_Mutation_p.M381I NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 584 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) GTATCCAGATGAATGGCTGGA 0.502 247 92 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22820400 22820400 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:22820400A>T uc003gqp.3 + 5 1355 c.1264A>T c.(1264-1266)AAC>TAC p.N422Y GBA3_uc010iep.2_Missense_Mutation_p.N115Y|GBA3_uc011bxo.1_Missense_Mutation_p.N423Y NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 422 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TCTTCTGGATAACTTTGAGTG 0.423 5 14 --- --- --- --- PASS SLAIN2 57606 broad.mit.edu 37 4 48422177 48422177 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:48422177C>T uc003gya.3 + 7 1540 c.1396C>T c.(1396-1398)CCA>TCA p.P466S NM_020846 NP_065897 Q9P270 SLAI2_HUMAN SLAIN motif family, member 2 466 centrosome 0 CCCTGCAGCACCATCTCCTTT 0.448 48 25 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89527029 89527029 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:89527029C>A uc003hrw.1 + 3 221 c.55C>A c.(55-57)CAG>AAG p.Q19K HERC3_uc003hrv.2_Missense_Mutation_p.Q19K|HERC3_uc011cdn.1_Intron NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 19 RCC1 1. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) CACCAACCTGCAGGGAATTGT 0.493 49 24 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94006266 94006266 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:94006266C>T uc011cdt.1 + 3 623 c.365C>T c.(364-366)TCA>TTA p.S122L GRID2_uc010ikx.2_Missense_Mutation_p.S122L|GRID2_uc011cdu.1_Intron|GRID2_uc011cdv.1_RNA NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 122 Extracellular (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) ATTCAGCGCTCAACAGCTGGG 0.567 59 37 --- --- --- --- PASS EMCN 51705 broad.mit.edu 37 4 101342458 101342458 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:101342458C>A uc003hvr.2 - 8 824 c.645G>T c.(643-645)ATG>ATT p.M215I EMCN_uc011cel.1_Missense_Mutation_p.M202I|EMCN_uc011cem.1_Intron NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN endomucin isoform 1 215 Cytoplasmic (Potential). extracellular region|integral to membrane|plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) CCTTCCAGCACATTCGGTACA 0.358 58 33 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113538950 113538950 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:113538950A>G uc003iau.2 - 6 2459 c.2248T>C c.(2248-2250)TGT>CGT p.C750R C4orf21_uc003iaw.2_Missense_Mutation_p.C750R NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AGTGCAATACATTCATAGTGA 0.343 97 39 --- --- --- --- PASS C4orf31 79625 broad.mit.edu 37 4 121957867 121957867 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:121957867C>T uc003idq.1 - 4 1786 c.1259G>A c.(1258-1260)CGA>CAA p.R420Q NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 420 0 TCCTTTCAGTCGAACGAGGTA 0.418 123 81 --- --- --- --- PASS RXFP1 59350 broad.mit.edu 37 4 159514595 159514595 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:159514595C>A uc003ipz.2 + 3 312 c.230C>A c.(229-231)GCC>GAC p.A77D RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Missense_Mutation_p.A77D|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Missense_Mutation_p.A77D|RXFP1_uc010iqm.2_Intron|RXFP1_uc011cjf.1_Intron|RXFP1_uc010iqn.2_5'UTR NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 77 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) AAATATTTTGCCAGTTACTAC 0.333 24 25 --- --- --- --- PASS C4orf39 152756 broad.mit.edu 37 4 165878495 165878495 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:165878495G>T uc003iqx.1 + 1 396 c.321G>T c.(319-321)ACG>ACT p.T107T TRIM61_uc003iqw.2_Intron NM_153027 NP_694572 Q96MZ4 CD039_HUMAN hypothetical protein LOC152756 107 0 all_hematologic(180;0.221) Prostate(90;0.109) GBM - Glioblastoma multiforme(119;0.146) CGGCTGTCACGCCACCGAAAT 0.547 23 24 --- --- --- --- PASS DDX60L 91351 broad.mit.edu 37 4 169392938 169392938 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:169392938A>G uc003irq.3 - 4 445 c.224T>C c.(223-225)CTT>CCT p.L75P DDX60L_uc003irr.1_Missense_Mutation_p.L75P|DDX60L_uc003irt.1_Missense_Mutation_p.L75P NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 75 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) GTTACTCAGAAGATCCACAAG 0.373 46 50 --- --- --- --- PASS SH3RF1 57630 broad.mit.edu 37 4 170057544 170057544 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:170057544G>A uc003isa.1 - 5 1328 c.993C>T c.(991-993)CTC>CTT p.L331L SH3RF1_uc010irc.1_Missense_Mutation_p.H54Y NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 331 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TGGAGCTGATGAGGACAGGGG 0.562 97 145 --- --- --- --- PASS PLEKHG4B 153478 broad.mit.edu 37 5 163559 163559 + Silent SNP G T T rs114260538 byFrequency TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:163559G>T uc003jak.2 + 11 2354 c.2304G>T c.(2302-2304)CCG>CCT p.P768P NM_052909 NP_443141 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G 768 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(2) 2 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) AGAAGCTCCCGCTGTGGCAGC 0.652 19 15 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19473725 19473725 + Missense_Mutation SNP T G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:19473725T>G uc003jgc.2 - 12 2360 c.1983A>C c.(1981-1983)GAA>GAC p.E661D CDH18_uc003jgd.2_Missense_Mutation_p.E661D|CDH18_uc011cnm.1_3'UTR NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 661 Cytoplasmic (Potential). 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) CTCCGCCTCCTTCATCATCAT 0.498 76 109 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24537623 24537623 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:24537623G>T uc003jgr.1 - 3 724 c.392C>A c.(391-393)GCT>GAT p.A131D CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 131 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) TCTGTTAATAGCTTGTGCGCG 0.403 HNSCC(23;0.051) 28 116 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26903886 26903886 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:26903886G>A uc003jgs.1 - 6 1028 c.859C>T c.(859-861)CTT>TTT p.L287F CDH9_uc010iug.2_Missense_Mutation_p.L287F NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 287 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 ATCCTTCCAAGATGAGTTCCA 0.378 20 108 --- --- --- --- PASS TTC33 23548 broad.mit.edu 37 5 40716530 40716530 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:40716530G>A uc003jma.2 - 5 654 c.506C>T c.(505-507)TCT>TTT p.S169F TTC33_uc011cpm.1_Missense_Mutation_p.S61F|TTC33_uc010ivg.2_3'UTR NM_012382 NP_036514 Q6PID6 TTC33_HUMAN tetratricopeptide repeat domain 33 169 binding ovary(1) 1 TCTTGCCCAAGAGAGGTCTTC 0.408 101 115 --- --- --- --- PASS RAB3C 115827 broad.mit.edu 37 5 58021831 58021831 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:58021831C>G uc003jrp.2 + 3 352 c.255C>G c.(253-255)GAC>GAG p.D85E NM_138453 NP_612462 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 85 GTP (By similarity). protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) TTCTTTAGGACACAGCAGGCC 0.338 43 79 --- --- --- --- PASS MAP1B 4131 broad.mit.edu 37 5 71491608 71491608 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:71491608T>A uc003kbw.3 + 5 2667 c.2426T>A c.(2425-2427)ATG>AAG p.M809K MAP1B_uc010iyw.1_Missense_Mutation_p.M826K|MAP1B_uc010iyx.1_Missense_Mutation_p.M683K|MAP1B_uc010iyy.1_Missense_Mutation_p.M683K NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 809 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GCAGCTGTCATGGCGGCAGCT 0.537 7 1 --- --- --- --- PASS IQGAP2 10788 broad.mit.edu 37 5 75950040 75950040 + Nonsense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:75950040C>T uc003kek.2 + 19 2416 c.2194C>T c.(2194-2196)CGA>TGA p.R732* IQGAP2_uc010izv.2_Nonsense_Mutation_p.R285*|IQGAP2_uc011csv.1_Nonsense_Mutation_p.R228*|IQGAP2_uc003kel.2_Nonsense_Mutation_p.R228* NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 732 IQ 2. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GTCCTGGTTCCGAATGGCAAC 0.348 15 74 --- --- --- --- PASS PCDHA13 56136 broad.mit.edu 37 5 140262150 140262150 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:140262150C>T uc003lif.2 + 1 297 c.297C>T c.(295-297)AGC>AGT p.S99S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Silent_p.S99S|PCDHA13_uc003lid.2_Silent_p.S99S NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 99 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGGCGGAGCGCGGAGTGCA 0.557 46 194 --- --- --- --- PASS FAT2 2196 broad.mit.edu 37 5 150928931 150928931 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:150928931T>C uc003lue.3 - 8 4727 c.4714A>G c.(4714-4716)ACA>GCA p.T1572A GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1572 Extracellular (Potential).|Cadherin 14. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AGCAGCTCTGTGCCGGGGGCT 0.592 4 28 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169145667 169145667 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr5:169145667G>T uc003maf.2 + 22 2219 c.2139G>T c.(2137-2139)TTG>TTT p.L713F DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.L205F NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 713 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAGGAAATTGATGACAGTGC 0.373 20 28 --- --- --- --- PASS NRN1 51299 broad.mit.edu 37 6 5999430 5999430 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:5999430C>G uc003mwu.2 - 3 859 c.208G>C c.(208-210)GAG>CAG p.E70Q NRN1_uc003mwt.2_Missense_Mutation_p.E96Q NM_016588 NP_057672 Q9NPD7 NRN1_HUMAN neuritin precursor 70 anchored to membrane|plasma membrane 0 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) TGGAAATCCTCCCAGTATCTG 0.557 18 39 --- --- --- --- PASS NUP153 9972 broad.mit.edu 37 6 17649457 17649457 + Silent SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:17649457A>G uc003ncd.1 - 12 1670 c.1470T>C c.(1468-1470)AGT>AGC p.S490S NUP153_uc011dje.1_Silent_p.S521S|NUP153_uc010jpl.1_Silent_p.S490S NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 490 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) TCTCAGGGGAACTAAAATTAA 0.368 31 124 --- --- --- --- PASS SLC17A4 10050 broad.mit.edu 37 6 25773531 25773531 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:25773531C>T uc003nfe.2 + 7 854 c.735C>T c.(733-735)CTC>CTT p.L245L SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Intron|SLC17A4_uc003nfg.2_Silent_p.L182L|SLC17A4_uc010jqa.2_5'Flank NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 245 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 GTTGTCCTCTCTGGTTTCCTC 0.433 26 94 --- --- --- --- PASS SKIV2L 6499 broad.mit.edu 37 6 31929803 31929803 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:31929803A>G uc003nyn.1 + 10 1425 c.1036A>G c.(1036-1038)ATT>GTT p.I346V RDBP_uc003nyk.2_5'Flank|RDBP_uc011dot.1_5'Flank|RDBP_uc003nym.1_5'Flank|SKIV2L_uc011dou.1_Missense_Mutation_p.I188V|SKIV2L_uc011dov.1_Missense_Mutation_p.I153V NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 346 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 TGAATATGCCATTGCCCTGGC 0.502 31 42 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38790651 38790651 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:38790651G>T uc003ooe.1 + 25 3510 c.2910G>T c.(2908-2910)AAG>AAT p.K970N NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGAAGCTGAAGAATTTTTACC 0.388 12 35 --- --- --- --- PASS UBR2 23304 broad.mit.edu 37 6 42625796 42625796 + Missense_Mutation SNP A G G rs138557643 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:42625796A>G uc011dur.1 + 27 2907 c.2907A>G c.(2905-2907)ATA>ATG p.I969M UBR2_uc011dus.1_Missense_Mutation_p.I614M|UBR2_uc003osh.2_RNA NM_015255 NP_056070 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 969 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding ovary(3)|pancreas(1) 4 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) CTCCTAGCATACTAGCTATGC 0.393 197 158 --- --- --- --- PASS XPO5 57510 broad.mit.edu 37 6 43498432 43498432 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:43498432T>A uc003ovp.2 - 23 2882 c.2671A>T c.(2671-2673)ATG>TTG p.M891L NM_020750 NP_065801 Q9HAV4 XPO5_HUMAN exportin 5 891 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding skin(2)|breast(1)|kidney(1) 4 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) ATATGAAGCATGGGTCTGAGT 0.448 17 126 --- --- --- --- PASS SLC29A1 2030 broad.mit.edu 37 6 44199199 44199199 + Splice_Site SNP G C C rs75037270 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:44199199G>C uc003owu.1 + 9 1193 c.864_splice c.e9+1 p.N288_splice SLC29A1_uc003owv.1_Splice_Site_p.N288_splice|SLC29A1_uc003oww.1_Splice_Site_p.N367_splice|SLC29A1_uc003owx.1_Splice_Site_p.N288_splice|SLC29A1_uc003owy.1_Splice_Site_p.N288_splice|SLC29A1_uc003owz.1_Splice_Site_p.N288_splice NM_004955 NP_004946 Q99808 S29A1_HUMAN equilibrative nucleoside transporter 1 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding large_intestine(2)|skin(1) 3 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) CCTGAAAAATGTACGTAGGGG 0.512 9 34 --- --- --- --- PASS PKHD1 5314 broad.mit.edu 37 6 51613404 51613404 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:51613404C>G uc003pah.1 - 58 9286 c.9010G>C c.(9010-9012)GTT>CTT p.V3004L PKHD1_uc010jzn.1_Missense_Mutation_p.V987L|PKHD1_uc003pai.2_Missense_Mutation_p.V3004L NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3004 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) CTGAATTCAACAGATGAGTAC 0.458 94 148 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70049245 70049245 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:70049245G>T uc003pev.3 + 26 3756 c.3308G>T c.(3307-3309)TGT>TTT p.C1103F BAI3_uc010kak.2_Missense_Mutation_p.C1103F|BAI3_uc011dxx.1_Missense_Mutation_p.C309F|BAI3_uc003pex.1_Missense_Mutation_p.C233F NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1103 Helical; Name=6; (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGGAGCTCCTGTGTGGTGTTG 0.468 166 187 --- --- --- --- PASS TTK 7272 broad.mit.edu 37 6 80750394 80750394 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:80750394C>T uc003pjc.2 + 21 2538 c.2464C>T c.(2464-2466)CCT>TCT p.P822S TTK_uc003pjb.3_Missense_Mutation_p.P821S NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 822 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TCTGAATTCTCCTAACTCCAT 0.318 4 114 --- --- --- --- PASS SYNCRIP 10492 broad.mit.edu 37 6 86324670 86324670 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:86324670C>T uc003pla.2 - 11 2217 c.1676G>A c.(1675-1677)GGA>GAA p.G559E SYNCRIP_uc003pku.2_Intron|SYNCRIP_uc003pkw.2_Intron|SYNCRIP_uc003pky.2_Intron|SYNCRIP_uc003pkv.2_Intron|SYNCRIP_uc003pkx.2_Intron|SYNCRIP_uc003pkz.2_Missense_Mutation_p.G524E NM_006372 NP_006363 O60506 HNRPQ_HUMAN synaptotagmin binding, cytoplasmic RNA 559 1-8.|Interaction with APOBEC1.|8 X 3 AA repeats of R-G-G. CRD-mediated mRNA stabilization|interspecies interaction between organisms catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm nucleotide binding|protein binding ovary(2) 2 all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297) BRCA - Breast invasive adenocarcinoma(108;0.0389) TCCTACATTTCCACCGCGGCC 0.597 79 208 --- --- --- --- PASS C6orf162 57150 broad.mit.edu 37 6 88046835 88046835 + Missense_Mutation SNP G A A rs140990223 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:88046835G>A uc003plp.1 + 3 175 c.86G>A c.(85-87)CGC>CAC p.R29H C6orf164_uc003plr.2_RNA|C6orf162_uc003plq.1_Missense_Mutation_p.R29H NM_001042493 NP_001035958 Q96KF7 CF162_HUMAN hypothetical protein LOC57150 29 integral to membrane 0 all_cancers(76;3.81e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.3e-05) BRCA - Breast invasive adenocarcinoma(108;0.0164) AGAGGGGTGCGCACAACAACC 0.438 17 137 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90497611 90497611 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:90497611C>T uc003pnn.1 - 8 1412 c.1296G>A c.(1294-1296)CTG>CTA p.L432L MDN1_uc003pno.1_5'Flank|MDN1_uc003pnp.1_Silent_p.L432L NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 432 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GTGCCACTTTCAGACAGTCAC 0.453 35 37 --- --- --- --- PASS CASP8AP2 9994 broad.mit.edu 37 6 90575901 90575901 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:90575901G>A uc003pnr.2 + 8 3088 c.2892G>A c.(2890-2892)CGG>CGA p.R964R CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Silent_p.R964R|CASP8AP2_uc011dzz.1_Silent_p.R964R NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 964 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) CTGATGTGCGGAAGTCAAAGA 0.363 14 10 --- --- --- --- PASS MCHR2 84539 broad.mit.edu 37 6 100368871 100368871 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:100368871C>A uc003pqh.1 - 6 1283 c.968G>T c.(967-969)AGA>ATA p.R323I MCHR2_uc003pqi.1_Missense_Mutation_p.R323I NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 323 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) CTCAGTCGCTCTTCTTTGGAT 0.423 33 106 --- --- --- --- PASS AKD1 221264 broad.mit.edu 37 6 109980541 109980541 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:109980541C>T uc003ptn.2 - 7 597 c.520G>A c.(520-522)GAC>AAC p.D174N AKD1_uc003ptr.3_Missense_Mutation_p.D174N|AKD1_uc003pts.1_RNA NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 174 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TCCCACTGGTCTCTACTGTAT 0.259 18 63 --- --- --- --- PASS CDK19 23097 broad.mit.edu 37 6 110944071 110944071 + Silent SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:110944071C>A uc003puh.1 - 10 1051 c.978G>T c.(976-978)TCG>TCT p.S326S CDK19_uc003pui.1_Silent_p.S266S|CDK19_uc011eax.1_Silent_p.S202S NM_015076 NP_055891 Q9BWU1 CDK19_HUMAN cell division cycle 2-like 6 (CDK8-like) 326 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(2)|central_nervous_system(1)|skin(1) 4 GAGCTTGCTCCGAGGTAATTC 0.458 25 82 --- --- --- --- PASS MIR588 693173 broad.mit.edu 37 6 126805844 126805844 + RNA SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:126805844C>T hsa-mir-588|MI0003597 + c.68C>T uc003qaq.1_Intron 0 ccaccatggccaaaattgggc 0.000 6 12 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152540290 152540290 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:152540290C>A uc010kiw.2 - 120 22494 c.21892G>T c.(21892-21894)GAT>TAT p.D7298Y SYNE1_uc010kiv.2_Missense_Mutation_p.D1822Y|SYNE1_uc003qos.3_Missense_Mutation_p.D1822Y|SYNE1_uc003qot.3_Missense_Mutation_p.D7227Y|SYNE1_uc003qou.3_Missense_Mutation_p.D7298Y|SYNE1_uc003qor.3_Missense_Mutation_p.D198Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7298 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) AAGAGGGAATCTTTAACTGTG 0.448 HNSCC(10;0.0054) 14 78 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152651824 152651824 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:152651824C>T uc010kiw.2 - 78 14598 c.13996G>A c.(13996-13998)GTC>ATC p.V4666I SYNE1_uc003qot.3_Missense_Mutation_p.V4595I|SYNE1_uc003qou.3_Missense_Mutation_p.V4666I|SYNE1_uc010kiz.2_Missense_Mutation_p.V421I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4666 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) GCTTCCTGGACTTTATAGAAC 0.413 HNSCC(10;0.0054) 11 56 --- --- --- --- PASS MRPL18 29074 broad.mit.edu 37 6 160218358 160218358 + Silent SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:160218358T>C uc003qsw.3 + 3 407 c.279T>C c.(277-279)CTT>CTC p.L93L MRPL18_uc010kkb.2_RNA|PNLDC1_uc003qsx.1_5'Flank|PNLDC1_uc003qsy.1_5'Flank NM_014161 NP_054880 Q9H0U6 RM18_HUMAN mitochondrial ribosomal protein L18 precursor 93 rRNA transport|translation mitochondrial ribosome 5S rRNA binding|structural constituent of ribosome 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06) TAGAAGCACTTGTGGAGCATC 0.413 23 30 --- --- --- --- PASS UNC93A 54346 broad.mit.edu 37 6 167728822 167728822 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr6:167728822G>A uc003qvq.2 + 8 1431 c.1256G>A c.(1255-1257)AGC>AAC p.S419N UNC93A_uc003qvr.2_Missense_Mutation_p.S377N NM_018974 NP_061847 Q86WB7 UN93A_HUMAN unc-93 homolog A isoform 1 419 integral to membrane|plasma membrane 0 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGGGTCCTGAGCCTGACCATG 0.577 5 306 --- --- --- --- PASS GPR141 353345 broad.mit.edu 37 7 37780147 37780147 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:37780147C>A uc003tfm.1 + 1 152 c.152C>A c.(151-153)ACC>AAC p.T51N uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 51 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 CGGTCAGTGACCACCATGGCG 0.498 6 157 --- --- --- --- PASS SFRP4 6424 broad.mit.edu 37 7 37956067 37956067 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:37956067C>T uc003tfo.3 - 1 459 c.73G>A c.(73-75)GAG>AAG p.E25K NM_003014 NP_003005 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 precursor 25 FZ. brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(1) 1 CGCACCGCCTCGCAGGGCGCG 0.687 47 50 --- --- --- --- PASS OGDH 4967 broad.mit.edu 37 7 44747291 44747291 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:44747291G>T uc003tln.2 + 22 3016 c.2907G>T c.(2905-2907)GTG>GTT p.V969V OGDH_uc011kbx.1_Silent_p.V965V|OGDH_uc011kby.1_Silent_p.V819V|OGDH_uc003tlp.2_Silent_p.V980V|OGDH_uc011kbz.1_Silent_p.V764V NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 969 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) ATGACTACGTGAAGCCAAGAC 0.602 37 142 --- --- --- --- PASS ZPBP 11055 broad.mit.edu 37 7 50097646 50097646 + Silent SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:50097646G>C uc003tou.2 - 4 496 c.426C>G c.(424-426)CTC>CTG p.L142L ZPBP_uc011kci.1_Silent_p.L68L|ZPBP_uc010kyw.2_Silent_p.L141L NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 142 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) GTTTATATTCGAGGAAACATG 0.323 6 170 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53104039 53104039 + Silent SNP G T T rs114283332 by1000genomes TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:53104039G>T uc003tpz.2 + 1 691 c.675G>T c.(673-675)GCG>GCT p.A225A NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 225 0 AAAATGGAGCGGTTGCTTCCT 0.637 34 87 --- --- --- --- PASS CALN1 83698 broad.mit.edu 37 7 71743678 71743678 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:71743678C>A uc003twa.3 - 2 638 c.111G>T c.(109-111)GAG>GAT p.E37D CALN1_uc003twb.3_Missense_Mutation_p.E79D|CALN1_uc003twc.3_Missense_Mutation_p.E37D NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 37 EF-hand 1.|Cytoplasmic (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TACCATCGAGCTCCTCCACGG 0.562 33 41 --- --- --- --- PASS GTF2IRD1 9569 broad.mit.edu 37 7 73944172 73944172 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:73944172G>A uc003uaq.2 + 9 1592 c.1199G>A c.(1198-1200)CGC>CAC p.R400H GTF2IRD1_uc010lbq.2_Missense_Mutation_p.R432H|GTF2IRD1_uc003uap.2_Missense_Mutation_p.R400H|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R400H NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 400 GTF2I-like 2. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CCCTTCAAGCGCCCCTGCACT 0.562 10 51 --- --- --- --- PASS TRRAP 8295 broad.mit.edu 37 7 98580986 98580986 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:98580986A>G uc003upp.2 + 59 9114 c.8905A>G c.(8905-8907)ACG>GCG p.T2969A TRRAP_uc011kis.1_Missense_Mutation_p.T2951A|TRRAP_uc003upr.2_Missense_Mutation_p.T2668A NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2969 FAT. 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) CGACATGAAGACGGTGGTGAA 0.522 31 58 --- --- --- --- PASS SLC12A9 56996 broad.mit.edu 37 7 100454632 100454632 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:100454632C>A uc003uwp.2 + 5 733 c.591C>A c.(589-591)TTC>TTA p.F197L SLC12A9_uc003uwo.1_Missense_Mutation_p.F108L|SLC12A9_uc003uwq.2_Missense_Mutation_p.F108L|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'UTR|SLC12A9_uc003uws.2_5'UTR|SLC12A9_uc003uwt.2_5'UTR|SLC12A9_uc003uwv.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 197 Helical; (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) TCCTCACATTCCTGCTGGTCT 0.642 43 110 --- --- --- --- PASS PRKAR2B 5577 broad.mit.edu 37 7 106710740 106710740 + Nonsense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:106710740C>T uc003vdx.2 + 2 497 c.322C>T c.(322-324)CGA>TGA p.R108* NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 108 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 AGTAATAAACCGATTCACAAG 0.308 34 85 --- --- --- --- PASS IMMP2L 83943 broad.mit.edu 37 7 110303734 110303734 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:110303734C>A uc003vfq.1 - 6 895 c.452G>T c.(451-453)TGG>TTG p.W151L IMMP2L_uc010ljr.1_Missense_Mutation_p.W151L NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 151 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) CTCTGGGGGCCACAGGATATG 0.438 29 67 --- --- --- --- PASS KIAA1549 57670 broad.mit.edu 37 7 138604033 138604033 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:138604033C>T uc011kql.1 - 2 388 c.339G>A c.(337-339)CCG>CCA p.P113P KIAA1549_uc003vuk.3_Silent_p.P63P|KIAA1549_uc011kqj.1_Silent_p.P113P NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 113 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 TAGTGGCAGACGGCGGGGCTG 0.517 O BRAF pilocytic astrocytoma 17 108 --- --- --- --- PASS HIPK2 28996 broad.mit.edu 37 7 139257806 139257806 + Nonsense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:139257806G>T uc003vvf.3 - 15 3638 c.3464C>A c.(3463-3465)TCG>TAG p.S1155* HIPK2_uc003vvd.3_Nonsense_Mutation_p.S1128* NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 1155 Autoinhibitory domain (AID). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) GATGGTGGGCGAGGGCAGGAC 0.662 8 10 --- --- --- --- PASS DENND2A 27147 broad.mit.edu 37 7 140259565 140259565 + Missense_Mutation SNP A C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:140259565A>C uc010lnj.2 - 8 1977 c.1832T>G c.(1831-1833)ATT>AGT p.I611S DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.I611S|DENND2A_uc003vvw.2_Missense_Mutation_p.I611S|DENND2A_uc003vvx.2_Missense_Mutation_p.I611S NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 611 UDENN. ovary(3)|breast(1) 4 Melanoma(164;0.00956) GAACTGGGGAATGGCCTTCAG 0.512 10 41 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 146741040 146741040 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:146741040C>T uc003weu.1 + 4 960 c.444C>T c.(442-444)CAC>CAT p.H148H NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 148 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGGTCCGGCACGAATTACAGC 0.423 HNSCC(39;0.1) 18 150 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151891602 151891602 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr7:151891602T>C uc003wla.2 - 29 4649 c.4430A>G c.(4429-4431)AAT>AGT p.N1477S MLL3_uc003wkz.2_Missense_Mutation_p.N538S NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 1477 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) TGAACTCTGATTGACATTTGG 0.388 N medulloblastoma 72 53 --- --- --- --- PASS ZNF596 169270 broad.mit.edu 37 8 196171 196171 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:196171A>G uc003wot.2 + 6 1612 c.1324A>G c.(1324-1326)ACT>GCT p.T442A ZNF596_uc003wou.2_Missense_Mutation_p.T341A|ZNF596_uc003wov.2_Missense_Mutation_p.T442A|ZNF596_uc003wow.2_Missense_Mutation_p.T442A NM_173539 NP_775810 Q8TC21 ZN596_HUMAN zinc finger protein 596 442 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) GAGAACTCACACTGGAGAGAA 0.393 14 47 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2020527 2020527 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:2020527G>T uc003wpx.3 + 9 1034 c.896G>T c.(895-897)TGC>TTC p.C299F MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 299 Ig-like C2-type 2. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ACTCTCAAGTGCACCATGCTG 0.622 14 23 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2964165 2964165 + Splice_Site SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:2964165T>C uc011kwk.1 - 46 7229 c.6839_splice c.e46-1 p.G2280_splice CSMD1_uc011kwj.1_Splice_Site_p.G1672_splice|CSMD1_uc010lrg.2_Splice_Site_p.G348_splice NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CAAAATCTCCTAGAAGAGTCA 0.463 6 23 --- --- --- --- PASS GATA4 2626 broad.mit.edu 37 8 11607646 11607646 + Silent SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:11607646C>G uc003wuc.2 + 4 1364 c.810C>G c.(808-810)TCC>TCG p.S270S GATA4_uc003wub.1_Silent_p.S64S|GATA4_uc011kxc.1_Silent_p.S271S NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 270 atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) TGGGCCTCTCCTGTGCCAACT 0.627 9 32 --- --- --- --- PASS PNMA2 10687 broad.mit.edu 37 8 26365833 26365833 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:26365833C>T uc003xez.2 - 3 1209 c.439G>A c.(439-441)GGA>AGA p.G147R NM_007257 NP_009188 Q9UL42 PNMA2_HUMAN paraneoplastic antigen MA2 147 apoptosis nucleolus protein binding 0 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) attgcctgtcccaacaaatgg 0.000 5 56 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52732941 52732941 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:52732941T>A uc003xqx.3 - 6 1385 c.1044A>T c.(1042-1044)AAA>AAT p.K348N PCMTD1_uc011ldm.1_Missense_Mutation_p.K218N|PCMTD1_uc003xqw.3_Missense_Mutation_p.K348N|PCMTD1_uc011ldn.1_Missense_Mutation_p.K160N|PCMTD1_uc010lya.2_Missense_Mutation_p.K272N NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 348 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TCAAGTAAGCTTTTAAAGATT 0.328 3 66 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61735246 61735246 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:61735246G>T uc003xue.2 + 12 3619 c.3142G>T c.(3142-3144)GGG>TGG p.G1048W CHD7_uc003xuf.2_Missense_Mutation_p.G161W NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1048 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGTGTATCATGGGAGTCAAGC 0.448 60 116 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61774820 61774820 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:61774820C>T uc003xue.2 + 36 8373 c.7896C>T c.(7894-7896)AAC>AAT p.N2632N NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2632 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GATGTCGAAACCCTAATAAAT 0.363 4 14 --- --- --- --- PASS PI15 51050 broad.mit.edu 37 8 75737636 75737636 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:75737636C>T uc003yal.2 + 2 331 c.152C>T c.(151-153)GCG>GTG p.A51V uc003yak.1_Intron|PI15_uc003yam.2_Missense_Mutation_p.A51V NM_015886 NP_056970 O43692 PI15_HUMAN protease inhibitor 15 preproprotein 51 extracellular region peptidase inhibitor activity central_nervous_system(2)|ovary(1) 3 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) TTAGATTCAGCGGATATCCCC 0.468 26 55 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105263326 105263326 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:105263326A>T uc003yls.2 + 27 4061 c.3820A>T c.(3820-3822)ACG>TCG p.T1274S RIMS2_uc003ylp.2_Missense_Mutation_p.T1256S|RIMS2_uc003ylw.2_Missense_Mutation_p.T1263S|RIMS2_uc003ylq.2_Missense_Mutation_p.T1070S|RIMS2_uc003ylr.2_Missense_Mutation_p.T1095S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1318 C2 2. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GGCAAGAAAAACGCTGGAACC 0.378 HNSCC(12;0.0054) 21 38 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105361446 105361446 + Silent SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:105361446C>A uc003ylx.1 + 2 715 c.666C>A c.(664-666)CTC>CTA p.L222L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 222 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GGCTTTCGCTCGTCCTGCTTG 0.502 65 103 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113256633 113256633 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:113256633G>T uc003ynu.2 - 65 10551 c.10392C>A c.(10390-10392)CCC>CCA p.P3464P CSMD3_uc003yns.2_Silent_p.P2666P|CSMD3_uc003ynt.2_Silent_p.P3424P|CSMD3_uc011lhx.1_Silent_p.P3295P NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3464 Extracellular (Potential).|Sushi 28. integral to membrane|plasma membrane p.P3464S(1) 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 CTTCACAAATGGGAACTTTTC 0.348 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 85 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113569047 113569047 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:113569047G>A uc003ynu.2 - 25 4338 c.4179C>T c.(4177-4179)CTC>CTT p.L1393L CSMD3_uc003yns.2_Silent_p.L665L|CSMD3_uc003ynt.2_Silent_p.L1353L|CSMD3_uc011lhx.1_Silent_p.L1289L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1393 Extracellular (Potential).|Sushi 7. 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 TCATGCACTTGAGAAGGCTAC 0.448 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 69 --- --- --- --- PASS TRPS1 7227 broad.mit.edu 37 8 116599281 116599281 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:116599281A>T uc003ynz.2 - 4 3067 c.2608T>A c.(2608-2610)TAT>AAT p.Y870N TRPS1_uc011lhy.1_Missense_Mutation_p.Y874N|TRPS1_uc003yny.2_Missense_Mutation_p.Y883N|TRPS1_uc010mcy.2_Missense_Mutation_p.Y870N NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 870 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) GATGCAGGATACTGCTGGGGG 0.517 Langer-Giedion_syndrome 51 80 --- --- --- --- PASS NSMCE2 286053 broad.mit.edu 37 8 126369499 126369499 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:126369499G>A uc003yrw.2 + 6 685 c.457G>A c.(457-459)GGA>AGA p.G153R NM_173685 NP_775956 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog 153 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1) 1 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CGGAACAGAAGGAGTGGATGA 0.458 33 58 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139163694 139163694 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:139163694G>T uc003yuy.2 - 13 3195 c.3024C>A c.(3022-3024)TCC>TCA p.S1008S FAM135B_uc003yux.2_Silent_p.S909S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.S570S|FAM135B_uc003yvb.2_Silent_p.S570S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1008 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACCCCATGATGGAAGTGCCTG 0.522 HNSCC(54;0.14) 27 51 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139207519 139207519 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:139207519C>A uc003yuy.2 - 9 1026 c.855G>T c.(853-855)CAG>CAT p.Q285H FAM135B_uc003yux.2_Missense_Mutation_p.Q186H|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 285 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTGAGCACAGCTGAGAAAGTG 0.418 HNSCC(54;0.14) 34 100 --- --- --- --- PASS LRRC14 9684 broad.mit.edu 37 8 145746733 145746733 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr8:145746733C>T uc003zdk.1 + 4 1499 c.1353C>T c.(1351-1353)TCC>TCT p.S451S LRRC14_uc003zdl.1_Silent_p.S451S|LRRC14_uc003zdo.2_5'Flank NM_014665 NP_055480 Q15048 LRC14_HUMAN leucine rich repeat containing 14 451 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGAGGCCTCCATCAATGAGG 0.627 8 35 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14824964 14824964 + Silent SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:14824964C>A uc003zlm.2 - 11 2498 c.1908G>T c.(1906-1908)GTG>GTT p.V636V FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 636 CSPG 4. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GCTGGTCATCCACTGGAGTTA 0.388 45 26 --- --- --- --- PASS ZCCHC7 84186 broad.mit.edu 37 9 37356933 37356933 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:37356933T>C uc003zzq.2 + 9 1473 c.1300T>C c.(1300-1302)TGG>CGG p.W434R ZCCHC7_uc011lqh.1_Missense_Mutation_p.W144R|ZCCHC7_uc011lqi.1_Missense_Mutation_p.W433R|ZCCHC7_uc010mlt.2_Missense_Mutation_p.W433R NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 434 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.0137) CCGTGCCTCATGGAAAAGCAA 0.433 23 17 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37745120 37745120 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:37745120C>A uc004aag.1 + 16 3135 c.3091C>A c.(3091-3093)CCA>ACA p.P1031T FRMPD1_uc004aah.1_Missense_Mutation_p.P1031T NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1031 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GGCCAGCAACCCAGGACTAAA 0.502 51 69 --- --- --- --- PASS C9orf125 84302 broad.mit.edu 37 9 104238559 104238559 + Silent SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:104238559C>A uc004bbm.2 - 2 1138 c.816G>T c.(814-816)CTG>CTT p.L272L uc004bbl.1_5'Flank NM_032342 NP_115718 Q9BRR3 CI125_HUMAN hypothetical protein LOC84302 272 Helical; (Potential). integral to membrane 0 Acute lymphoblastic leukemia(62;0.0527) GTAAGGGCCCCAGCAACATGC 0.537 113 61 --- --- --- --- PASS ZFP37 7539 broad.mit.edu 37 9 115818955 115818955 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:115818955C>T uc004bgm.1 - 1 42 c.14G>A c.(13-15)AGC>AAC p.S5N ZFP37_uc011lwz.1_Missense_Mutation_p.S5N|ZFP37_uc011lxa.1_Missense_Mutation_p.S5N NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 5 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CTGGACGCCGCTGGAGACCGA 0.672 40 32 --- --- --- --- PASS TLR4 7099 broad.mit.edu 37 9 120475457 120475457 + Nonsense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:120475457A>T uc004bjz.2 + 3 1342 c.1051A>T c.(1051-1053)AAA>TAA p.K351* TLR4_uc004bka.2_Nonsense_Mutation_p.K311*|TLR4_uc004bkb.2_Nonsense_Mutation_p.K151* NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 351 LRR 9.|Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ATTGAAACTCAAATCTCTCAA 0.353 48 41 --- --- --- --- PASS OR1J4 26219 broad.mit.edu 37 9 125281783 125281783 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:125281783C>G uc011lyw.1 + 1 364 c.364C>G c.(364-366)CGG>GGG p.R122G NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCATACGATCGGTATGTGGC 0.433 94 71 --- --- --- --- PASS OR1N2 138882 broad.mit.edu 37 9 125315489 125315489 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:125315489G>T uc011lyx.1 + 1 41 c.41G>T c.(40-42)GGG>GTG p.G14V NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 GAACTACAAGGGATGGGAAAA 0.368 71 35 --- --- --- --- PASS STXBP1 6812 broad.mit.edu 37 9 130430389 130430389 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:130430389G>T uc004brl.2 + 10 1022 c.825G>T c.(823-825)CGG>CGT p.R275R STXBP1_uc004brk.2_Silent_p.R275R NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 275 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 GGGAGGCACGGGTGAAGGAGG 0.592 4 36 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139393588 139393588 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr9:139393588C>G uc004chz.2 - 32 6058 c.6058G>C c.(6058-6060)GAC>CAC p.D2020H NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 2020 ANK 3.|Cytoplasmic (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCGTTGACGTCGGCGTGTGAG 0.677 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 34 27 --- --- --- --- PASS FAM107B 83641 broad.mit.edu 37 10 14572388 14572388 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:14572388A>G uc001imx.1 - 2 316 c.71T>C c.(70-72)GTA>GCA p.V24A FAM107B_uc001ina.1_Missense_Mutation_p.V199A|FAM107B_uc010qbu.1_RNA|FAM107B_uc009xjg.1_Missense_Mutation_p.V24A|FAM107B_uc001imy.1_Missense_Mutation_p.V24A|FAM107B_uc001imz.1_Missense_Mutation_p.V24A NM_031453 NP_113641 Q9H098 F107B_HUMAN hypothetical protein LOC83641 24 breast(4) 4 GGAGGTTTTTACAGGATTGAT 0.373 3 162 --- --- --- --- PASS RSU1 6251 broad.mit.edu 37 10 16796963 16796963 + Nonsense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:16796963G>A uc001iok.2 - 4 609 c.307C>T c.(307-309)CGA>TGA p.R103* RSU1_uc001iol.2_Nonsense_Mutation_p.R103*|RSU1_uc001iom.2_Nonsense_Mutation_p.R50*|RSU1_uc001ion.2_Nonsense_Mutation_p.R103* NM_152724 NP_689937 Q15404 RSU1_HUMAN ras suppressor protein 1 isoform 2 103 LRR 3. cell junction assembly|signal transduction cytosol protein binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(1;7.54e-08) CCGAAGCCTCGTGGCAAAGTG 0.468 13 99 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16960671 16960671 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:16960671C>A uc001ioo.2 - 45 7002 c.6950G>T c.(6949-6951)CGA>CTA p.R2317L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2317 CUB 16. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTGTCAGATCGAAATCTCAA 0.348 5 45 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18292099 18292099 + Splice_Site SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:18292099G>T uc001ipo.2 + 12 2033 c.1760_splice c.e12-1 p.G587_splice SLC39A12_uc001ipn.2_Splice_Site_p.G550_splice|SLC39A12_uc001ipp.2_Splice_Site_p.G586_splice|SLC39A12_uc010qck.1_Splice_Site_p.G453_splice|uc001ipq.1_RNA NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TTAAACTTCAGGAGACTTTGC 0.393 27 130 --- --- --- --- PASS PTCHD3 374308 broad.mit.edu 37 10 27702888 27702888 + Nonsense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:27702888C>A uc001itu.2 - 1 410 c.292G>T c.(292-294)GAG>TAG p.E98* NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 98 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTTTCCTCCTCCGGCAGGGGT 0.706 11 18 --- --- --- --- PASS C10orf71 118461 broad.mit.edu 37 10 50532472 50532472 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:50532472G>T uc010qgp.1 + 3 2221 c.1882G>T c.(1882-1884)GCC>TCC p.A628S NM_199459 NP_955629 Q711Q0 CJ071_HUMAN hypothetical protein LOC118461 isoform 2 628 0 GATGGGTCCTGCCGGATCCAG 0.572 6 10 --- --- --- --- PASS ERCC6 2074 broad.mit.edu 37 10 50678601 50678601 + Silent SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:50678601T>C uc001jhs.3 - 18 3559 c.3405A>G c.(3403-3405)ACA>ACG p.T1135T ERCC6_uc009xod.2_Silent_p.T295T|ERCC6_uc010qgr.1_Silent_p.T505T|ERCC6_uc001jhr.3_Silent_p.T503T NM_000124 NP_000115 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent 1135 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding lung(5)|breast(5)|ovary(3)|large_intestine(2)|skin(1) 16 AAGTTTTGCCTGTTCCTGAAG 0.408 Direct_reversal_of_damage|NER 56 77 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61834414 61834414 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:61834414C>T uc001jky.2 - 37 6417 c.6225G>A c.(6223-6225)CAG>CAA p.Q2075Q ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2075 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GTTTGTGTTCCTGCAAAGCAA 0.393 20 103 --- --- --- --- PASS TTC18 118491 broad.mit.edu 37 10 75113471 75113471 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:75113471G>A uc009xrc.2 - 3 214 c.93C>T c.(91-93)ACC>ACT p.T31T TTC18_uc001jty.2_Silent_p.T31T|TTC18_uc009xrd.1_5'UTR NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 31 binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) CTCGAATAAAGGTAACTGGAG 0.373 18 38 --- --- --- --- PASS DLG5 9231 broad.mit.edu 37 10 79552268 79552268 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:79552268C>A uc001jzk.2 - 32 5760 c.5690G>T c.(5689-5691)TGC>TTC p.C1897F DLG5_uc001jzi.2_Missense_Mutation_p.C652F|DLG5_uc001jzj.2_Missense_Mutation_p.C1312F NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1897 Guanylate kinase-like. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GATCTGAGTGCAAATGCTTGA 0.527 4 146 --- --- --- --- PASS NRG3 10718 broad.mit.edu 37 10 84745221 84745221 + Nonsense_Mutation SNP G T T rs138878772 byFrequency TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:84745221G>T uc001kco.2 + 9 1978 c.1951G>T c.(1951-1953)GAA>TAA p.E651* NRG3_uc010qlz.1_Nonsense_Mutation_p.E650*|NRG3_uc001kcp.2_Nonsense_Mutation_p.E454*|NRG3_uc001kcq.2_Nonsense_Mutation_p.E301*|NRG3_uc001kcr.2_Nonsense_Mutation_p.E325* NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 675 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGAAGACTACGAACTGGCCAG 0.483 4 38 --- --- --- --- PASS CYP2C8 1558 broad.mit.edu 37 10 96798718 96798718 + Silent SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:96798718A>G uc001kkb.2 - 8 1322 c.1227T>C c.(1225-1227)CCT>CCC p.P409P CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Silent_p.P339P|CYP2C8_uc010qob.1_Silent_p.P323P|CYP2C8_uc010qoc.1_Silent_p.P307P|CYP2C8_uc010qod.1_3'UTR NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 409 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) GAAAGTGGCCAGGGTCAAAGA 0.368 41 59 --- --- --- --- PASS PDCD11 22984 broad.mit.edu 37 10 105172873 105172873 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:105172873G>A uc001kwy.1 + 9 1066 c.979G>A c.(979-981)GTG>ATG p.V327M NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 327 S1 motif 3. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTTTGTCTAGGTGAGGGCCTG 0.587 10 73 --- --- --- --- PASS SLK 9748 broad.mit.edu 37 10 105762780 105762780 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:105762780A>T uc001kxo.1 + 9 1878 c.1844A>T c.(1843-1845)AAA>ATA p.K615I SLK_uc001kxp.1_Missense_Mutation_p.K615I NM_014720 NP_055535 Q9H2G2 SLK_HUMAN serine/threonine kinase 2 615 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GAAGAAGGTAAAAATAAGGAA 0.368 7 29 --- --- --- --- PASS FAM160B1 57700 broad.mit.edu 37 10 116602761 116602761 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:116602761G>T uc001lcb.2 + 6 927 c.592G>T c.(592-594)GAT>TAT p.D198Y FAM160B1_uc001lcc.2_Missense_Mutation_p.D198Y NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 198 lung(1) 1 AAAAGGTCAGGATTCCTTGTC 0.378 11 79 --- --- --- --- PASS MMP21 118856 broad.mit.edu 37 10 127464382 127464382 + Silent SNP G A A rs149511576 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:127464382G>A uc001liu.2 - 1 9 c.9C>T c.(7-9)GCC>GCT p.A3A NM_147191 NP_671724 Q8N119 MMP21_HUMAN matrix metalloproteinase 21 preproprotein 3 proteolysis extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGATGGAGGCGGCGAGCATTG 0.647 7 36 --- --- --- --- PASS DHX32 55760 broad.mit.edu 37 10 127529443 127529443 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:127529443C>A uc001ljf.1 - 8 2157 c.1666G>T c.(1666-1668)GAC>TAC p.D556Y BCCIP_uc001ljd.3_Intron|DHX32_uc001lje.1_Missense_Mutation_p.D180Y|DHX32_uc001ljg.1_Missense_Mutation_p.D556Y|BCCIP_uc010qui.1_Intron|BCCIP_uc001ljc.3_Intron|BCCIP_uc010quj.1_Intron NM_018180 NP_060650 Q7L7V1 DHX32_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32 556 mitochondrion|nucleus ATP binding|helicase activity breast(2)|ovary(1)|lung(1) 4 all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936) AGAGTTGTGTCTTGGTAAGCC 0.423 80 76 --- --- --- --- PASS TCERG1L 256536 broad.mit.edu 37 10 133058677 133058677 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr10:133058677C>T uc001lkp.2 - 4 787 c.701G>A c.(700-702)AGC>AAC p.S234N TCERG1L_uc009yax.1_RNA NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 234 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) ggcggGGCTGCTGGTCACCTT 0.547 2 1 --- --- --- --- PASS ARNTL 406 broad.mit.edu 37 11 13391207 13391207 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:13391207G>A uc001mkr.2 + 12 1121 c.713G>A c.(712-714)CGA>CAA p.R238Q ARNTL_uc001mko.2_Missense_Mutation_p.R195Q|ARNTL_uc001mkp.2_Missense_Mutation_p.R238Q|ARNTL_uc001mkq.2_Missense_Mutation_p.R238Q|ARNTL_uc001mks.2_Missense_Mutation_p.R195Q|ARNTL_uc001mkt.2_Missense_Mutation_p.R238Q|ARNTL_uc001mku.2_RNA|ARNTL_uc009ygm.1_Missense_Mutation_p.R195Q|ARNTL_uc001mkv.1_Missense_Mutation_p.R195Q|ARNTL_uc001mkw.2_Missense_Mutation_p.R195Q|ARNTL_uc001mkx.2_Missense_Mutation_p.R236Q NM_001178 NP_001169 O00327 BMAL1_HUMAN aryl hydrocarbon receptor nuclear 238 circadian rhythm|positive regulation of transcription from RNA polymerase II promoter transcription factor complex aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 Epithelial(150;0.0243) GGGCCATCTCGATTATGTTCT 0.453 23 101 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20625906 20625906 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:20625906G>T uc001mqd.2 + 3 888 c.615G>T c.(613-615)GTG>GTT p.V205V SLC6A5_uc009yic.2_Intron NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 205 Helical; Name=1; (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TGTCCATGGTGGGGTACGCAG 0.607 17 185 --- --- --- --- PASS ANO5 203859 broad.mit.edu 37 11 22261201 22261201 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:22261201C>T uc001mqi.2 + 9 1166 c.849C>T c.(847-849)TTC>TTT p.F283F ANO5_uc001mqj.2_Silent_p.F282F NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 283 Cytoplasmic (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 TTTCCTATTTCTACAAGGAGC 0.368 21 142 --- --- --- --- PASS OR4C11 219429 broad.mit.edu 37 11 55371517 55371517 + Missense_Mutation SNP A C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:55371517A>C uc010rii.1 - 1 333 c.333T>G c.(331-333)TTT>TTG p.F111L NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GAATGAGGACAAAGATCTCCA 0.433 8 98 --- --- --- --- PASS OR10AG1 282770 broad.mit.edu 37 11 55735200 55735200 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:55735200G>C uc010rit.1 - 1 740 c.740C>G c.(739-741)ACT>AGT p.T247S NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) ATAAGTGATAGTACCTGCTCC 0.383 29 33 --- --- --- --- PASS OR8J3 81168 broad.mit.edu 37 11 55904834 55904834 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:55904834C>A uc010riz.1 - 1 361 c.361G>T c.(361-363)GAC>TAC p.D121Y NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) ACATAGCGGTCATAGGCCATC 0.498 15 114 --- --- --- --- PASS OR8K3 219473 broad.mit.edu 37 11 56086669 56086669 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:56086669T>A uc010rjf.1 + 1 887 c.887T>A c.(886-888)GTA>GAA p.V296E NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) AACAAAGATGTAAAATATGCC 0.323 29 29 --- --- --- --- PASS OR8J1 219477 broad.mit.edu 37 11 56127868 56127868 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:56127868C>A uc010rjh.1 + 1 146 c.146C>A c.(145-147)ACC>AAC p.T49N NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATCACCCTCACCAGTGTTGAC 0.507 57 59 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62298396 62298396 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:62298396C>T uc001ntl.2 - 5 3793 c.3493G>A c.(3493-3495)GAA>AAA p.E1165K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1165 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TCTGGGGCTTCGATGTCCACC 0.552 99 97 --- --- --- --- PASS SYVN1 84447 broad.mit.edu 37 11 64898161 64898161 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:64898161G>A uc001odb.2 - 11 1170 c.1076C>T c.(1075-1077)CCC>CTC p.P359L SYVN1_uc001odc.2_Missense_Mutation_p.P359L|SYVN1_uc009yqc.2_Missense_Mutation_p.P308L NM_172230 NP_757385 Q86TM6 SYVN1_HUMAN synoviolin 1 isoform b 359 Pro-rich.|Cytoplasmic (Potential). ER-associated protein catabolic process|response to stress endoplasmic reticulum membrane|integral to membrane|nucleus acid-amino acid ligase activity|protein binding|zinc ion binding ovary(1) 1 GAGTGGTGGGGGGTGGGGGGC 0.657 8 10 --- --- --- --- PASS EFEMP2 30008 broad.mit.edu 37 11 65634506 65634506 + Silent SNP C T T rs3182964 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:65634506C>T uc001ofy.3 - 11 1409 c.1215G>A c.(1213-1215)GTG>GTA p.V405V EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Intron NM_016938 NP_058634 O95967 FBLN4_HUMAN EGF-containing fibulin-like extracellular matrix 405 blood coagulation basement membrane|membrane calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(159;0.169) GGGGGCCCGTCACCGGCCGGG 0.607 72 30 --- --- --- --- PASS MTL5 9633 broad.mit.edu 37 11 68518014 68518014 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:68518014C>A uc001ooc.2 - 2 255 c.115G>T c.(115-117)GTG>TTG p.V39L MTL5_uc001ood.1_Missense_Mutation_p.V39L|MTL5_uc009ysi.1_Missense_Mutation_p.V39L|MTL5_uc001ooe.2_Missense_Mutation_p.V39L NM_004923 NP_004914 Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific isoform 39 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding ovary(2)|breast(1) 3 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) TCGTACTTCACGGGGGCCTTC 0.667 14 12 --- --- --- --- PASS IGHMBP2 3508 broad.mit.edu 37 11 68685319 68685319 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:68685319C>G uc001ook.1 + 7 1130 c.1028C>G c.(1027-1029)ACT>AGT p.T343S IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 343 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GAGAGCCTCACTTCGGCAAAC 0.378 98 41 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89883651 89883651 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:89883651G>C uc001pdf.3 + 5 594 c.485G>C c.(484-486)GGA>GCA p.G162A NAALAD2_uc009yvx.2_Missense_Mutation_p.G162A|NAALAD2_uc009yvy.2_Missense_Mutation_p.G162A|NAALAD2_uc001pdd.2_Missense_Mutation_p.G162A|NAALAD2_uc001pde.2_Missense_Mutation_p.G162A NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 162 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCCCTATAGGGAGATCTTGTA 0.299 64 39 --- --- --- --- PASS ALKBH8 91801 broad.mit.edu 37 11 107422636 107422636 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:107422636G>C uc010rvr.1 - 6 673 c.598C>G c.(598-600)CTT>GTT p.L200V ALKBH8_uc001pjk.2_5'UTR|ALKBH8_uc010rvq.1_Missense_Mutation_p.L63V|ALKBH8_uc009yxp.2_Missense_Mutation_p.L200V|ALKBH8_uc001pjl.2_RNA NM_138775 NP_620130 Q96BT7 ALKB8_HUMAN alkB, alkylation repair homolog 8 200 response to DNA damage stimulus cytosol|nucleus metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity 0 Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518) ATGTCAGGAAGACCTACAATG 0.313 37 30 --- --- --- --- PASS DRD2 1813 broad.mit.edu 37 11 113281606 113281606 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:113281606G>T uc001pnz.2 - 7 1496 c.1175C>A c.(1174-1176)ACA>AAA p.T392K DRD2_uc010rwv.1_Missense_Mutation_p.T391K|DRD2_uc001poa.3_Missense_Mutation_p.T392K|DRD2_uc001pob.3_Missense_Mutation_p.T363K NM_000795 NP_000786 P14416 DRD2_HUMAN dopamine receptor D2 isoform long 392 Agonist binding (By similarity).|Helical; Name=6; (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding pancreas(1)|skin(1) 2 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CAGGATGTGTGTGATGAAGAA 0.607 9 76 --- --- --- --- PASS TECTA 7007 broad.mit.edu 37 11 121016448 121016448 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:121016448G>A uc010rzo.1 + 11 3728 c.3728G>A c.(3727-3729)CGC>CAC p.R1243H NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 1243 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGTGTGGCCGCTACAACGGC 0.532 18 89 --- --- --- --- PASS OR10G9 219870 broad.mit.edu 37 11 123894283 123894283 + Nonsense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:123894283T>A uc010sad.1 + 1 564 c.564T>A c.(562-564)TGT>TGA p.C188* NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 188 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) AACTGGCCTGTGCAGACACCT 0.522 24 229 --- --- --- --- PASS SIAE 54414 broad.mit.edu 37 11 124524593 124524593 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:124524593C>T uc001qan.2 - 4 615 c.502G>A c.(502-504)GAC>AAC p.D168N NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 168 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) GCAACAAGGTCCTCCAGCTCC 0.502 31 177 --- --- --- --- PASS PRDM10 56980 broad.mit.edu 37 11 129772364 129772364 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:129772364T>A uc001qfm.2 - 22 3559 c.3327A>T c.(3325-3327)CAA>CAT p.Q1109H PRDM10_uc001qfj.2_Missense_Mutation_p.Q1010H|PRDM10_uc001qfk.2_Missense_Mutation_p.Q972H|PRDM10_uc001qfl.2_Missense_Mutation_p.Q1023H|PRDM10_uc010sbx.1_Missense_Mutation_p.Q1019H|PRDM10_uc001qfn.2_Missense_Mutation_p.Q1105H NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN PR domain containing 10 isoform 1 1096 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) GGGCAGAAGTTTGCTTTTCTT 0.493 15 51 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 993955 993955 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:993955A>G uc001qio.3 + 19 4492 c.3985A>G c.(3985-3987)ACA>GCA p.T1329A WNK1_uc001qip.3_Missense_Mutation_p.T1082A|WNK1_uc001qir.3_Missense_Mutation_p.T502A NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1329 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CTTTAGTCATACAGGACCAAC 0.498 65 53 --- --- --- --- PASS A2M 2 broad.mit.edu 37 12 9262611 9262611 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:9262611G>A uc001qvk.1 - 6 638 c.525C>T c.(523-525)ATC>ATT p.I175I A2M_uc009zgk.1_Silent_p.I25I NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 175 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) GCCATTGTGCGATGCGATTTC 0.433 99 106 --- --- --- --- PASS PRB1 5542 broad.mit.edu 37 12 11508439 11508439 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:11508439G>T uc001qzw.1 - 1 86 c.49C>A c.(49-51)CAG>AAG p.Q17K PRB1_uc001qzu.1_Missense_Mutation_p.Q17K|PRB1_uc001qzv.1_Missense_Mutation_p.Q17K NM_005039 NP_005030 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 isoform 1 17 extracellular region 0 OV - Ovarian serous cystadenocarcinoma(49;0.185) TTTAAGTTCTGAGCTGAGCTC 0.517 70 86 --- --- --- --- PASS ITPR2 3709 broad.mit.edu 37 12 26864171 26864171 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:26864171C>T uc001rhg.2 - 9 1303 c.886G>A c.(886-888)GCA>ACA p.A296T NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 296 Cytoplasmic (Potential).|MIR 4. activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) CACTGTCCTGCACCCCCACGG 0.418 11 123 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41946553 41946553 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:41946553C>A uc010skn.1 + 6 770 c.702C>A c.(700-702)AGC>AGA p.S234R PDZRN4_uc001rmq.3_Missense_Mutation_p.S175R|PDZRN4_uc009zjz.2_Missense_Mutation_p.S173R|PDZRN4_uc001rmr.2_Missense_Mutation_p.S60R NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 433 PDZ 2. 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) TTTATGTCAGCGAGGTAAGAA 0.488 38 37 --- --- --- --- PASS NCKAP5L 57701 broad.mit.edu 37 12 50190450 50190450 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:50190450T>C uc009zlk.2 - 8 1395 c.1193A>G c.(1192-1194)GAG>GGG p.E398G NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN NCK-associated protein 5-like 394 Pro-rich. central_nervous_system(1) 1 CCCCTGGCCCTCTGAGGTAGC 0.652 25 19 --- --- --- --- PASS KRT2 3849 broad.mit.edu 37 12 53038879 53038879 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:53038879C>A uc001sat.2 - 9 1877 c.1844G>T c.(1843-1845)GGA>GTA p.G615V NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 615 Tail. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) ACCCCCACCTCCAGAGCCATA 0.552 4 152 --- --- --- --- PASS KRT1 3848 broad.mit.edu 37 12 53071127 53071127 + Silent SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:53071127A>G uc001sau.1 - 5 1160 c.1101T>C c.(1099-1101)GCT>GCC p.A367A KRT1_uc001sav.1_Silent_p.A367A NM_006121 NP_006112 P04264 K2C1_HUMAN keratin 1 367 Rod.|Coil 2. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding ovary(1)|skin(1) 2 ACTCGGCCTCAGCTTTGCTCT 0.507 10 89 --- --- --- --- PASS ITGA7 3679 broad.mit.edu 37 12 56079052 56079052 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:56079052C>T uc001shh.2 - 25 3436 c.3216G>A c.(3214-3216)GCG>GCA p.A1072A ITGA7_uc001shg.2_Silent_p.A1068A|ITGA7_uc010sps.1_Silent_p.A975A|ITGA7_uc001shf.2_Missense_Mutation_p.R84Q|ITGA7_uc009znw.2_Silent_p.A315A|ITGA7_uc009znx.2_Silent_p.A949A NM_001144996 NP_001138468 Q13683 ITA7_HUMAN integrin alpha 7 isoform 1 precursor 1112 Cytoplasmic (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 CGGGGTGCTTCGCCCGTTTGA 0.607 10 85 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400498 78400498 + Silent SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:78400498C>A uc001syp.2 + 8 1353 c.1180C>A c.(1180-1182)CGG>AGG p.R394R NAV3_uc001syo.2_Silent_p.R394R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 394 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGTCAATGCCCGGACTGCTTT 0.498 HNSCC(70;0.22) 45 40 --- --- --- --- PASS C12orf26 84190 broad.mit.edu 37 12 82780745 82780745 + Silent SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:82780745T>C uc001szq.2 + 2 444 c.423T>C c.(421-423)ATT>ATC p.I141I NM_032230 NP_115606 Q8N6Q8 CL026_HUMAN hypothetical protein LOC84190 141 0 ACCAGAGAATTGGTATGTCTA 0.333 4 178 --- --- --- --- PASS SCYL2 55681 broad.mit.edu 37 12 100706354 100706354 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:100706354G>C uc001thn.2 + 6 825 c.775G>C c.(775-777)GTA>CTA p.V259L SCYL2_uc009ztw.1_Missense_Mutation_p.V86L|SCYL2_uc001thm.1_Missense_Mutation_p.V259L NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 259 Protein kinase. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 TATGTATGCTGTATTTAATAA 0.348 48 43 --- --- --- --- PASS CCDC62 84660 broad.mit.edu 37 12 123276650 123276650 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:123276650G>A uc001udc.2 + 6 899 c.754G>A c.(754-756)GAT>AAT p.D252N CCDC62_uc010tah.1_RNA|CCDC62_uc001udf.2_Missense_Mutation_p.D252N|CCDC62_uc001ude.2_Intron NM_201435 NP_958843 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 isoform b 252 Potential. cytoplasm|nucleus ovary(2)|large_intestine(1)|pancreas(1)|skin(1) 5 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) TTGCCTGCACGATGAATTGCT 0.393 5 92 --- --- --- --- PASS TMEM132D 121256 broad.mit.edu 37 12 129566322 129566322 + Silent SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:129566322A>T uc009zyl.1 - 7 2233 c.1905T>A c.(1903-1905)CTT>CTA p.L635L TMEM132D_uc001uia.2_Silent_p.L173L NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 635 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGGTCATCCCAAGCTCCTGCC 0.498 8 50 --- --- --- --- PASS PIWIL1 9271 broad.mit.edu 37 12 130827214 130827214 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:130827214C>T uc001uik.2 + 2 168 c.78C>T c.(76-78)GCC>GCT p.A26A PIWIL1_uc001uij.1_Silent_p.A26A NM_004764 NP_004755 Q96J94 PIWL1_HUMAN piwi-like 1 26 gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) GCTCCACTGCCGTGAGTGCTT 0.512 16 15 --- --- --- --- PASS NOC4L 79050 broad.mit.edu 37 12 132635872 132635872 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr12:132635872C>T uc001ujz.1 + 11 1073 c.1032C>T c.(1030-1032)CGC>CGT p.R344R NM_024078 NP_076983 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog 344 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) TCAAGTACCGCGCCCGCTTCT 0.657 6 167 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20012295 20012295 + Splice_Site SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr13:20012295T>C uc001umd.2 - 15 1185 c.974_splice c.e15-1 p.G325_splice TPTE2_uc009zzk.2_Splice_Site|TPTE2_uc009zzl.2_Splice_Site_p.G214_splice|TPTE2_uc001ume.2_Splice_Site_p.G248_splice|TPTE2_uc009zzm.2_Splice_Site|TPTE2_uc010tcm.1_Splice_Site|TPTE2_uc010tcl.1_5'UTR NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CGGTTCttcctagaaaagaaa 0.234 30 21 --- --- --- --- PASS ZMYM5 9205 broad.mit.edu 37 13 20412970 20412970 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr13:20412970T>C uc010tcn.1 - 5 1007 c.742A>G c.(742-744)AAA>GAA p.K248E ZMYM5_uc001umm.1_Missense_Mutation_p.K72E|ZMYM5_uc001umn.2_Missense_Mutation_p.K248E|ZMYM5_uc001umo.2_Intron NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 248 nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) AAAGGCTTTTTGCAATTTGCA 0.428 43 266 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25263440 25263440 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr13:25263440C>T uc001upp.2 + 5 660 c.473C>T c.(472-474)ACG>ATG p.T158M ATP12A_uc010aaa.2_Missense_Mutation_p.T158M NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 158 Helical; (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GTCATTTTAACGGGGATCTTT 0.537 13 109 --- --- --- --- PASS OR11H4 390442 broad.mit.edu 37 14 20711878 20711878 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:20711878G>T uc010tld.1 + 1 928 c.928G>T c.(928-930)GCT>TCT p.A310S NM_001004479 NP_001004479 Q8NGC9 O11H4_HUMAN olfactory receptor, family 11, subfamily H, 310 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.000888) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0146) CATGAAACTCGCTCTGAGAAA 0.393 21 142 --- --- --- --- PASS DHRS4L1 728635 broad.mit.edu 37 14 24505724 24505724 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:24505724G>A uc010alc.2 + 1 15 c.15G>A c.(13-15)CGG>CGA p.R5R DHRS4L1_uc010tnu.1_RNA NM_001082488 NP_001075957 P0CG22 DR4L1_HUMAN dehydrogenase/reductase (SDR family) member 4 5 binding|oxidoreductase activity 0 ACAAGGCGCGGCTACGAGGCC 0.662 15 14 --- --- --- --- PASS HSPA2 3306 broad.mit.edu 37 14 65008628 65008628 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:65008628A>T uc001xhj.2 + 2 1137 c.1061A>T c.(1060-1062)CAG>CTG p.Q354L HSPA2_uc001xhk.3_Missense_Mutation_p.Q354L NM_021979 NP_068814 P54652 HSP72_HUMAN heat shock 70kDa protein 2 354 response to unfolded protein|spermatid development cell surface ATP binding|unfolded protein binding skin(1) 1 all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045) AAGCTGCTGCAGGATTTCTTC 0.627 32 38 --- --- --- --- PASS LTBP2 4053 broad.mit.edu 37 14 74975970 74975970 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:74975970C>T uc001xqa.2 - 22 3761 c.3374G>A c.(3373-3375)CGG>CAG p.R1125Q NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 1125 EGF-like 10; calcium-binding (Potential).|Cys-rich. protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGGGCTGGGCCGGTAGCCCCC 0.627 21 107 --- --- --- --- PASS TTLL5 23093 broad.mit.edu 37 14 76186151 76186151 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:76186151G>C uc001xrx.2 + 11 1121 c.916G>C c.(916-918)GAA>CAA p.E306Q TTLL5_uc010ask.1_Missense_Mutation_p.E306Q|TTLL5_uc001xry.1_Intron NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 306 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity ovary(2)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.029) CCTGAAACAAGAAGGCAGAGA 0.393 47 36 --- --- --- --- PASS TMED8 283578 broad.mit.edu 37 14 77808245 77808245 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:77808245C>A uc001xto.1 - 6 847 c.847G>T c.(847-849)GAC>TAC p.D283Y TMED8_uc010ast.1_RNA|TMED8_uc001xtn.1_Missense_Mutation_p.D127Y NM_213601 NP_998766 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain 283 GOLD. transport integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) CGGTGGCTGTCCCGCCGGTAC 0.607 14 11 --- --- --- --- PASS ZNF839 55778 broad.mit.edu 37 14 102792675 102792675 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:102792675G>A uc001ylo.2 + 2 644 c.294G>A c.(292-294)CCG>CCA p.P98P ZNF839_uc010awk.1_Silent_p.P214P|ZNF839_uc001ylp.2_RNA|ZNF839_uc001ylq.1_Silent_p.P98P|ZNF839_uc001ylr.2_Silent_p.P98P NM_018335 NP_060805 A8K0R7 ZN839_HUMAN zinc finger protein 839 98 intracellular zinc ion binding ovary(1)|central_nervous_system(1) 2 CCTCTGACCCGCTGGCAGTAA 0.483 10 9 --- --- --- --- PASS ADSSL1 122622 broad.mit.edu 37 14 105209529 105209529 + Splice_Site SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:105209529G>T uc001ypd.2 + 10 1147 c.1073_splice c.e10+1 p.A358_splice INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Splice_Site_p.A401_splice|ADSSL1_uc001ypf.2_Splice_Site NM_152328 NP_689541 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 isoform 2 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) GATTCACTGCGTAAGCAACCC 0.612 68 55 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369420 22369420 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:22369420C>A uc010tzu.1 + 1 845 c.845C>A c.(844-846)CCT>CAT p.P282H 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, 282 Helical; Name=7; (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) TTAATATTCCCTTTACGTAAT 0.383 43 98 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28483881 28483881 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:28483881C>T uc001zbj.2 - 24 3721 c.3615G>A c.(3613-3615)GAG>GAA p.E1205E NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 1205 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GTGTCACTTCCTCATTATTTC 0.368 4 116 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33938728 33938728 + Splice_Site SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:33938728G>A uc001zhi.2 + 29 4011 c.3941_splice c.e29+1 p.R1314_splice RYR3_uc010bar.2_Splice_Site_p.R1314_splice NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCAGAAAAGGTGAGGGTGAG 0.517 35 117 --- --- --- --- PASS C15orf55 256646 broad.mit.edu 37 15 34640787 34640787 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:34640787G>C uc001zif.2 + 2 789 c.634G>C c.(634-636)GAG>CAG p.E212Q C15orf55_uc010ucc.1_Missense_Mutation_p.E240Q|C15orf55_uc010ucd.1_Missense_Mutation_p.E230Q NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 212 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) GGACGTTTATGAGAACTTCCG 0.542 T BRD3|BRD4 lethal midline carcinoma 61 75 --- --- --- --- PASS ITPKA 3706 broad.mit.edu 37 15 41793728 41793728 + Missense_Mutation SNP A T T rs143540732 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:41793728A>T uc001znz.2 + 2 568 c.557A>T c.(556-558)TAC>TTC p.Y186F NM_002220 NP_002211 P23677 IP3KA_HUMAN 1D-myo-inositol-trisphosphate 3-kinase A 186 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity 0 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) AAGAAGCGCTACGCCTGGGTG 0.637 5 27 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50154566 50154566 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:50154566G>A uc001zxu.2 - 27 3315 c.3173C>T c.(3172-3174)GCA>GTA p.A1058V ATP8B4_uc010ber.2_Missense_Mutation_p.A931V|ATP8B4_uc010ufd.1_Missense_Mutation_p.A868V|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.A61V NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1058 Extracellular (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) GGAATGTCGTGCATTACCTAT 0.358 31 94 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50158629 50158629 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:50158629C>A uc001zxu.2 - 26 3222 c.3080G>T c.(3079-3081)GGG>GTG p.G1027V ATP8B4_uc010ber.2_Missense_Mutation_p.G900V|ATP8B4_uc010ufd.1_Missense_Mutation_p.G837V|ATP8B4_uc010ufe.1_RNA|ATP8B4_uc001zxt.2_Missense_Mutation_p.G30V NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 1027 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) GGCAATGCTCCCCCAGATGAA 0.383 37 61 --- --- --- --- PASS UACA 55075 broad.mit.edu 37 15 70968849 70968849 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:70968849T>C uc002asr.2 - 13 1218 c.1114A>G c.(1114-1116)AGA>GGA p.R372G UACA_uc010uke.1_Missense_Mutation_p.R263G|UACA_uc002asq.2_Missense_Mutation_p.R359G|UACA_uc010bin.1_Missense_Mutation_p.R347G NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 372 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TATTTAAATCTATTTTTCAGA 0.229 51 59 --- --- --- --- PASS CD276 80381 broad.mit.edu 37 15 73996604 73996604 + Missense_Mutation SNP G A A rs150186392 byFrequency TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:73996604G>A uc002avv.1 + 6 1394 c.1160G>A c.(1159-1161)CGG>CAG p.R387Q CD276_uc010bjd.1_Missense_Mutation_p.R241Q|CD276_uc002avu.1_Missense_Mutation_p.R387Q|CD276_uc002avw.1_Missense_Mutation_p.R169Q|CD276_uc010ulb.1_Missense_Mutation_p.R333Q|CD276_uc002avx.2_RNA NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN CD276 antigen isoform a 387 Extracellular (Potential).|Ig-like C2-type 2. R -> Q (in Ref. 3; AAQ88709). cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding skin(1) 1 TCCAGCTACCGGGGCTACCCT 0.637 6 70 --- --- --- --- PASS ST8SIA2 8128 broad.mit.edu 37 15 92981642 92981642 + Missense_Mutation SNP T G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr15:92981642T>G uc002bra.2 + 4 505 c.350T>G c.(349-351)CTG>CGG p.L117R ST8SIA2_uc002brb.2_Missense_Mutation_p.L96R NM_006011 NP_006002 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide 117 Lumenal (Potential). axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity 0 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) AAGGGAACCCTGAAGCCTGGA 0.468 104 229 --- --- --- --- PASS A2BP1 54715 broad.mit.edu 37 16 7568163 7568163 + Silent SNP A C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:7568163A>C uc002cys.2 + 5 1030 c.42A>C c.(40-42)GCA>GCC p.A14A A2BP1_uc010buf.1_Silent_p.A14A|A2BP1_uc002cyr.1_Silent_p.A14A|A2BP1_uc002cyt.2_Silent_p.A14A|A2BP1_uc010uxz.1_Silent_p.A57A|A2BP1_uc010uya.1_Silent_p.A50A|A2BP1_uc002cyv.1_Silent_p.A14A|A2BP1_uc010uyb.1_Silent_p.A14A|A2BP1_uc002cyw.2_Silent_p.A34A|A2BP1_uc002cyy.2_Silent_p.A34A|A2BP1_uc002cyx.2_Silent_p.A34A|A2BP1_uc010uyc.1_Silent_p.A34A NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 14 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) ATCAGGAAGCAGCCGCTGCCC 0.582 38 110 --- --- --- --- PASS TRIM72 493829 broad.mit.edu 37 16 31226446 31226446 + Silent SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:31226446C>G uc002ebn.1 + 2 616 c.387C>G c.(385-387)CTC>CTG p.L129L NM_001008274 NP_001008275 Q6ZMU5 TRI72_HUMAN tripartite motif-containing 72 129 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding 0 ACGCACGCCTCAAGGTGCGGG 0.692 6 11 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31382999 31382999 + Missense_Mutation SNP G A A rs146647978 byFrequency TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:31382999G>A uc002ebu.1 + 17 2121 c.2054G>A c.(2053-2055)CGC>CAC p.R685H ITGAX_uc002ebt.2_Missense_Mutation_p.R685H NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 685 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GACCCTGGCCGCCTGAGTCCC 0.607 28 75 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31383005 31383005 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:31383005G>T uc002ebu.1 + 17 2127 c.2060G>T c.(2059-2061)AGT>ATT p.S687I ITGAX_uc002ebt.2_Missense_Mutation_p.S687I NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 687 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GGCCGCCTGAGTCCCCGTGCC 0.617 17 82 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31424157 31424157 + Splice_Site SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:31424157A>T uc002ebv.1 + 15 1757 c.1708_splice c.e15-2 p.R570_splice ITGAD_uc010cap.1_Splice_Site_p.R571_splice NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TCTTCTGGCCAGCGGATTGCC 0.567 44 82 --- --- --- --- PASS PHKB 5257 broad.mit.edu 37 16 47581411 47581411 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:47581411G>T uc002eev.3 + 7 714 c.662G>T c.(661-663)TGG>TTG p.W221L PHKB_uc010vgi.1_Missense_Mutation_p.W214L|PHKB_uc002eeu.3_Missense_Mutation_p.W214L NM_000293 NP_000284 Q93100 KPBB_HUMAN phosphorylase kinase, beta isoform a 221 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity ovary(1)|large_intestine(1)|breast(1) 3 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TTTGGTGTCTGGGAAAGAGGA 0.333 29 85 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53487406 53487406 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:53487406C>T uc002ehi.3 + 6 927 c.809C>T c.(808-810)TCT>TTT p.S270F RBL2_uc010vgv.1_Missense_Mutation_p.S196F|RBL2_uc002ehj.2_5'UTR|RBL2_uc010vgw.1_Missense_Mutation_p.S54F NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 270 cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 AAACCTTCCTCTGACCCCCCT 0.378 6 319 --- --- --- --- PASS CLEC3A 10143 broad.mit.edu 37 16 78064472 78064472 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr16:78064472G>C uc002ffh.3 + 3 409 c.328G>C c.(328-330)GAA>CAA p.E110Q NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 110 C-type lectin. skeletal system development extracellular region sugar binding 0 GAACTCCGACGAAATCAACGC 0.478 24 81 --- --- --- --- PASS INPP5K 51763 broad.mit.edu 37 17 1399417 1399417 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:1399417C>T uc002fsr.2 - 11 1616 c.1227G>A c.(1225-1227)GAG>GAA p.E409E INPP5K_uc002fss.2_Silent_p.E333E|INPP5K_uc002fsq.2_Silent_p.E333E|INPP5K_uc010cjr.2_Silent_p.E333E|INPP5K_uc010vql.1_Silent_p.E317E|INPP5K_uc010vqm.1_Silent_p.E313E NM_016532 NP_057616 Q9BT40 INP5K_HUMAN inositol polyphosphate-5-phosphatase K isoform 409 Required for ruffle localization. actin cytoskeleton organization cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding 0 AGAGGAGAAACTCATCTTCAG 0.308 51 27 --- --- --- --- PASS OR3A2 4995 broad.mit.edu 37 17 3181346 3181346 + Missense_Mutation SNP T A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:3181346T>A uc002fvg.2 - 1 923 c.884A>T c.(883-885)AAC>ATC p.N295I NM_002551 NP_002542 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, 295 Helical; Name=7; (Potential). sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 GATAAGAGGGTTCAGCATAGG 0.478 69 28 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578395 7578395 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:7578395G>C uc002gim.2 - 5 729 c.535C>G c.(535-537)CAT>GAT p.H179D TP53_uc002gig.1_Missense_Mutation_p.H179D|TP53_uc002gih.2_Missense_Mutation_p.H179D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H47D|TP53_uc010cng.1_Missense_Mutation_p.H47D|TP53_uc002gii.1_Missense_Mutation_p.H47D|TP53_uc010cnh.1_Missense_Mutation_p.H179D|TP53_uc010cni.1_Missense_Mutation_p.H179D|TP53_uc002gij.2_Missense_Mutation_p.H179D|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.H86D|TP53_uc002gio.2_Missense_Mutation_p.H47D|TP53_uc010vug.1_Missense_Mutation_p.H140D NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 179 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Zinc. H -> Q (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and 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.H179R(99)|p.H179Y(74)|p.H179L(31)|p.H179Q(17)|p.H179N(13)|p.H179D(10)|p.P177_C182delPHHERC(8)|p.0?(7)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.R175_E180delRCPHHE(3)|p.H179fs*68(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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) CAGCGCTCATGGTGGGGGCAG 0.642 111 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) 51 24 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10358039 10358039 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:10358039G>T uc002gmn.2 - 22 2635 c.2524C>A c.(2524-2526)CCC>ACC p.P842T uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 842 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTGAGGAGGGGCTTGATCTTG 0.453 47 34 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11797796 11797796 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:11797796G>A uc002gne.2 + 59 11457 c.11389G>A c.(11389-11391)GCG>ACG p.A3797T DNAH9_uc010coo.2_Missense_Mutation_p.A3091T|DNAH9_uc002gnf.2_Missense_Mutation_p.A109T|DNAH9_uc010vvh.1_Missense_Mutation_p.A150T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3797 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CTCCCATCAGGCGTGGGGAGC 0.547 42 33 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41245215 41245215 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:41245215C>T uc002icq.2 - 10 2565 c.2333G>A c.(2332-2334)GGC>GAC p.G778D BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.G707D|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Missense_Mutation_p.G731D|BRCA1_uc002ict.2_Missense_Mutation_p.G778D|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Missense_Mutation_p.G778D|BRCA1_uc002ide.1_Missense_Mutation_p.G609D|BRCA1_uc010cyy.1_Missense_Mutation_p.G778D|BRCA1_uc010whs.1_Missense_Mutation_p.G778D|BRCA1_uc010cyz.2_Missense_Mutation_p.G731D|BRCA1_uc010cza.2_Missense_Mutation_p.G752D|BRCA1_uc010wht.1_Missense_Mutation_p.G482D NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 778 G -> C (in a breast cancer sample; somatic mutation). androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding p.G778C(1) ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TTCCTGAGTGCCATAATCAGT 0.418 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 152 221 --- --- --- --- PASS GRN 2896 broad.mit.edu 37 17 42429094 42429094 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:42429094C>T uc002igp.1 + 10 1329 c.1110C>T c.(1108-1110)AGC>AGT p.S370S GRN_uc002igr.1_Silent_p.S164S NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 370 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) ATAATGTCAGCAGCTGTCCCT 0.612 62 70 --- --- --- --- PASS SCRN2 90507 broad.mit.edu 37 17 45915974 45915974 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:45915974G>A uc002imd.2 - 6 987 c.861C>T c.(859-861)GCC>GCT p.A287A SCRN2_uc002imc.2_Silent_p.A295A|SCRN2_uc002imf.2_Silent_p.A287A|SCRN2_uc002ime.2_RNA NM_138355 NP_612364 Q96FV2 SCRN2_HUMAN secernin 2 isoform 1 287 proteolysis dipeptidase activity ovary(1) 1 ACACCATGCTGGCCGTGGTGC 0.607 46 74 --- --- --- --- PASS CBX8 57332 broad.mit.edu 37 17 77768640 77768640 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:77768640G>C uc002jxd.1 - 5 1057 c.964C>G c.(964-966)CGG>GGG p.R322G NM_020649 NP_065700 Q9HC52 CBX8_HUMAN chromobox homolog 8 322 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex methylated histone residue binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) CCCATGTCCCGGTACAGGCCC 0.701 9 28 --- --- --- --- PASS CCDC40 55036 broad.mit.edu 37 17 78071154 78071154 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr17:78071154C>T uc010dht.2 + 19 3159 c.3132C>T c.(3130-3132)TTC>TTT p.F1044F CCDC40_uc002jxm.3_Silent_p.F827F|CCDC40_uc002jxn.3_Silent_p.F440F NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 1044 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGCAGACTTCGACACACTCG 0.562 12 107 --- --- --- --- PASS DSC1 1823 broad.mit.edu 37 18 28712547 28712547 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr18:28712547G>T uc002kwn.2 - 14 2484 c.2222C>A c.(2221-2223)CCT>CAT p.P741H DSC1_uc002kwm.2_Missense_Mutation_p.P741H NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 741 Cytoplasmic (Potential). homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TTCTTCTCCAGGTCCTTCAGT 0.343 69 158 --- --- --- --- PASS KIAA1632 57724 broad.mit.edu 37 18 43458381 43458381 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr18:43458381G>T uc002lbm.2 - 34 6002 c.5902C>A c.(5902-5904)CTC>ATC p.L1968I KIAA1632_uc010xcq.1_Missense_Mutation_p.L522I|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.L843I NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1968 autophagy 0 GGCTTAAAGAGCTGAATGATT 0.323 35 82 --- --- --- --- PASS HMHA1 23526 broad.mit.edu 37 19 1068656 1068656 + Missense_Mutation SNP G T T rs138476769 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:1068656G>T uc002lqz.1 + 2 565 c.334G>T c.(334-336)GTC>TTC p.V112F HMHA1_uc010xgd.1_Missense_Mutation_p.V128F|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 112 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGCCCGGACGTCGTCGAGGA 0.692 11 40 --- --- --- --- PASS FUT5 2527 broad.mit.edu 37 19 5867472 5867472 + Missense_Mutation SNP C G G rs141356302 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:5867472C>G uc002mdo.3 - 2 353 c.265G>C c.(265-267)GTG>CTG p.V89L FUT5_uc010duo.2_Missense_Mutation_p.V89L NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 89 Lumenal (Potential). L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity 0 GGCAGAGCCACGGGTGTGTTA 0.662 18 43 --- --- --- --- PASS EMR1 2015 broad.mit.edu 37 19 6901981 6901981 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:6901981G>A uc002mfw.2 + 6 648 c.610G>A c.(610-612)GAA>AAA p.E204K EMR1_uc010dvc.2_Missense_Mutation_p.E204K|EMR1_uc010dvb.2_Missense_Mutation_p.E152K|EMR1_uc010xji.1_Intron|EMR1_uc010xjj.1_Intron NM_001974 NP_001965 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone 204 Extracellular (Potential).|EGF-like 4; calcium-binding (Potential). cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 all_hematologic(4;0.166) CCCAGGATTTGAATCCAGCAG 0.473 107 195 --- --- --- --- PASS EVI5L 115704 broad.mit.edu 37 19 7914140 7914140 + Splice_Site SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:7914140A>G uc002min.2 + 5 707 c.553_splice c.e5-2 p.A185_splice EVI5L_uc010xjz.1_Splice_Site_p.A185_splice|EVI5L_uc002mio.1_5'Flank NM_145245 NP_660288 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like isoform intracellular protein binding|Rab GTPase activator activity ovary(1) 1 GTTCCCTTCTAGGCATACTCG 0.652 25 54 --- --- --- --- PASS OR2Z1 284383 broad.mit.edu 37 19 8842253 8842253 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:8842253T>C uc010xkg.1 + 1 863 c.863T>C c.(862-864)CTT>CCT p.L288P NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 CTCAACCCCCTTATCTACAGT 0.517 38 58 --- --- --- --- PASS ZNF266 10781 broad.mit.edu 37 19 9524910 9524910 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:9524910T>C uc002mll.2 - 4 957 c.691A>G c.(691-693)ATG>GTG p.M231V ZNF266_uc002mlm.2_Missense_Mutation_p.M231V|ZNF266_uc002mln.2_Missense_Mutation_p.M231V|ZNF266_uc002mlo.2_Missense_Mutation_p.M231V|ZNF266_uc010dwp.2_Missense_Mutation_p.M231V|ZNF266_uc010dwq.2_Missense_Mutation_p.M231V NM_198058 NP_932175 Q14584 ZN266_HUMAN zinc finger protein 266 231 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGGGTTCCCATGTGAATATTA 0.428 32 56 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11096052 11096052 + Missense_Mutation SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:11096052C>T uc002mqf.3 + 3 610 c.326C>T c.(325-327)CCG>CTG p.P109L SMARCA4_uc010dxp.2_Missense_Mutation_p.P109L|SMARCA4_uc010dxo.2_Missense_Mutation_p.P109L|SMARCA4_uc002mqg.1_Missense_Mutation_p.P109L|SMARCA4_uc010dxq.2_Missense_Mutation_p.P109L|SMARCA4_uc010dxr.2_Missense_Mutation_p.P109L|SMARCA4_uc002mqj.3_Missense_Mutation_p.P109L|SMARCA4_uc010dxs.2_Missense_Mutation_p.P109L|SMARCA4_uc002mqe.2_Missense_Mutation_p.P109L NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 109 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATGGGGCCCCCGCCCAGCCCC 0.587 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 4 35 --- --- --- --- PASS CCDC159 126075 broad.mit.edu 37 19 11460627 11460627 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:11460627G>A uc010xlw.1 + 4 397 c.318G>A c.(316-318)GTG>GTA p.V106V CCDC159_uc010xlr.1_Silent_p.V23V|CCDC159_uc010xls.1_Silent_p.V23V|CCDC159_uc010xlt.1_Silent_p.V23V|CCDC159_uc010xlu.1_Silent_p.V22V|CCDC159_uc010xlv.1_Silent_p.V22V NM_001080503 NP_001073972 P0C7I6 CC159_HUMAN coiled-coil domain-containing-like 138 ovary(1) 1 AGACCATTGTGATGATTCCCG 0.592 5 41 --- --- --- --- PASS CCDC151 115948 broad.mit.edu 37 19 11537702 11537702 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:11537702C>A uc002mrs.2 - 4 746 c.603G>T c.(601-603)GAG>GAT p.E201D CCDC151_uc002mrr.2_Missense_Mutation_p.E136D|CCDC151_uc010dxz.2_Missense_Mutation_p.E175D NM_145045 NP_659482 A5D8V7 CC151_HUMAN coiled-coil domain containing 151 201 Potential. ovary(1) 1 CCTTGGCCACCTCCGTGTGTC 0.682 38 69 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23543202 23543202 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:23543202C>A uc002nre.2 - 4 2692 c.2579G>T c.(2578-2580)GGC>GTC p.G860V ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Missense_Mutation_p.G828V NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 860 C2H2-type 26. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) AAAAGCTTTGCCACATTCCTC 0.348 22 56 --- --- --- --- PASS PSG6 5675 broad.mit.edu 37 19 43414815 43414815 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:43414815T>C uc002ovj.1 - 3 675 c.623A>G c.(622-624)AAG>AGG p.K208R PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Missense_Mutation_p.K215R|PSG6_uc002ovi.2_Missense_Mutation_p.K209R|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG6_uc002ove.1_5'UTR|PSG6_uc002ovf.1_Missense_Mutation_p.K208R|PSG6_uc002ovg.1_Missense_Mutation_p.K208R NM_002782 NP_002773 Q00889 PSG6_HUMAN pregnancy specific beta-1-glycoprotein 6 isoform 208 Ig-like C2-type 1. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00899) TGCAATATACTTTGTGACACC 0.498 3 280 --- --- --- --- PASS PSG5 5673 broad.mit.edu 37 19 43680259 43680259 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:43680259G>A uc002ovu.2 - 3 603 c.472C>T c.(472-474)CCC>TCC p.P158S PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Missense_Mutation_p.P158S|PSG5_uc002ovv.2_Missense_Mutation_p.P251S|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 158 Ig-like C2-type 1. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) TTCTCCCTGGGTTTTGAGTTG 0.493 7 336 --- --- --- --- PASS SULT2A1 6822 broad.mit.edu 37 19 48387031 48387031 + Missense_Mutation SNP A T T rs144058411 byFrequency TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:48387031A>T uc002phr.2 - 2 288 c.148T>A c.(148-150)TTG>ATG p.L50M NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 50 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) ATCTCAGCCAACCAGTTTGTT 0.358 7 25 --- --- --- --- PASS KLK7 5650 broad.mit.edu 37 19 51483083 51483083 + Silent SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:51483083C>G uc002puo.2 - 5 669 c.567G>C c.(565-567)CTG>CTC p.L189L KLK7_uc002pup.2_Silent_p.L189L|KLK7_uc010yco.1_Silent_p.L63L|KLK7_uc010eok.2_Silent_p.L117L NM_139277 NP_644806 P49862 KLK7_HUMAN stratum corneum chymotryptic enzyme 189 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) TGCCAGCGCACAGCATGGAAT 0.567 6 12 --- --- --- --- PASS ZNF320 162967 broad.mit.edu 37 19 53383976 53383976 + Missense_Mutation SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:53383976G>T uc002qag.2 - 4 1594 c.1403C>A c.(1402-1404)TCT>TAT p.S468Y ZNF320_uc010eqh.1_5'Flank|ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.2_Missense_Mutation_p.S414Y|ZNF320_uc002qai.2_Missense_Mutation_p.S468Y NM_207333 NP_997216 A2RRD8 ZN320_HUMAN zinc finger protein 320 468 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0534) ACATTTGTAAGATTTCTGTCC 0.408 8 73 --- --- --- --- PASS ZNF677 342926 broad.mit.edu 37 19 53740505 53740505 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:53740505C>A uc002qbf.1 - 5 1660 c.1475G>T c.(1474-1476)TGT>TTT p.C492F ZNF677_uc002qbg.1_Missense_Mutation_p.C492F NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 492 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) GGCTTTGCCACATTCAGTACA 0.363 26 61 --- --- --- --- PASS CACNG7 59284 broad.mit.edu 37 19 54417765 54417765 + Missense_Mutation SNP G C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:54417765G>C uc002qcr.1 + 2 223 c.208G>C c.(208-210)GGT>CGT p.G70R CACNG7_uc010era.1_Missense_Mutation_p.G70R NM_031896 NP_114102 P62955 CCG7_HUMAN voltage-dependent calcium channel gamma-7 70 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(1) 1 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) TCGGGAGAAAGGTCGCTGTGT 0.552 8 38 --- --- --- --- PASS NLRP4 147945 broad.mit.edu 37 19 56370090 56370090 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:56370090G>A uc002qmd.3 + 3 1753 c.1331G>A c.(1330-1332)CGT>CAT p.R444H NLRP4_uc002qmf.2_Missense_Mutation_p.R369H|NLRP4_uc010etf.2_Missense_Mutation_p.R275H NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 444 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TACGGGGAGCGTGAGAGCTCC 0.532 44 110 --- --- --- --- PASS ZNF264 9422 broad.mit.edu 37 19 57723617 57723617 + Silent SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr19:57723617A>T uc002qob.2 + 4 1565 c.1152A>T c.(1150-1152)GCA>GCT p.A384A NM_003417 NP_003408 O43296 ZN264_HUMAN zinc finger protein 264 384 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135) TGGAGAGTGCAGCCCTGATTC 0.527 16 40 --- --- --- --- PASS FAM83D 81610 broad.mit.edu 37 20 37580822 37580822 + Missense_Mutation SNP T G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr20:37580822T>G uc002xjg.2 + 4 1548 c.1507T>G c.(1507-1509)TCC>GCC p.S503A NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 473 Ser-rich. cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) ATCGAGATCTTCCAGTTTGAA 0.488 56 62 --- --- --- --- PASS SEMG2 6407 broad.mit.edu 37 20 43851456 43851456 + Missense_Mutation SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr20:43851456C>G uc010ggz.2 + 2 1240 c.1183C>G c.(1183-1185)CAA>GAA p.Q395E SEMG2_uc002xnk.2_Missense_Mutation_p.Q395E|SEMG2_uc002xnl.2_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 395 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AATTCCTAGTCAAGCTCAAGA 0.398 6 63 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60901774 60901774 + Missense_Mutation SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr20:60901774T>C uc002ycq.2 - 40 5324 c.5257A>G c.(5257-5259)ACG>GCG p.T1753A NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 1753 Laminin IV type A. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGCCAGGCGTGGGGTATGCC 0.657 33 24 --- --- --- --- PASS ARFGAP1 55738 broad.mit.edu 37 20 61907461 61907461 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr20:61907461G>A uc002yem.2 + 3 191 c.79G>A c.(79-81)GCG>ACG p.A27T ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.2_Missense_Mutation_p.A27T|ARFGAP1_uc002yen.2_Missense_Mutation_p.A27T NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 27 C4-type.|Arf-GAP. COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) TGAGTGTGGCGCGTTCAATCC 0.612 10 213 --- --- --- --- PASS TFF3 7033 broad.mit.edu 37 21 43735446 43735446 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr21:43735446C>T uc002zav.2 - 1 261 c.189G>A c.(187-189)CTG>CTA p.L63L NM_003226 NP_003217 Q07654 TFF3_HUMAN trefoil factor 3 precursor 13 defense response|digestion apical lamina of hyaline layer skin(1) 1 ACAGCAAGGCCAGGACCAGCC 0.647 30 31 --- --- --- --- PASS HIRA 7290 broad.mit.edu 37 22 19394780 19394780 + Missense_Mutation SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:19394780G>A uc002zpf.1 - 4 449 c.229C>T c.(229-231)CGG>TGG p.R77W HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.R77W|HIRA_uc010gro.1_Missense_Mutation_p.R33W|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 77 WD 2. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) TTTGACCACCGCACACAGTTC 0.423 4 125 --- --- --- --- PASS CCDC116 164592 broad.mit.edu 37 22 21988721 21988721 + Silent SNP T C C TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:21988721T>C uc002zve.2 + 3 576 c.483T>C c.(481-483)CAT>CAC p.H161H CCDC116_uc011aih.1_Silent_p.H161H NM_152612 NP_689825 Q8IYX3 CC116_HUMAN coiled-coil domain containing 116 161 ovary(1)|skin(1) 2 Colorectal(54;0.105) CCAACTGCCATAGCAGCCTCA 0.627 46 50 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23063563 23063563 + RNA SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:23063563C>A uc011aim.1 + 167 c.9762C>A Parts of antibodies, mostly variable regions. 0 ACACAGCTTCCTTGACCATCA 0.542 29 34 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23237706 23237706 + RNA SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:23237706G>A uc011aim.1 + 363 c.15109G>A uc011aiw.1_Silent_p.A159A|uc010gtu.1_RNA|uc002zws.2_Intron Parts of antibodies, mostly variable regions. 0 CCGTCAAGGCGGGAGTGGAGA 0.592 5 73 --- --- --- --- PASS ADORA2A 135 broad.mit.edu 37 22 24837046 24837046 + Silent SNP C G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:24837046C>G uc002zzx.2 + 5 1591 c.828C>G c.(826-828)CTC>CTG p.L276L ADORA2A_uc002zzy.3_Silent_p.L276L|ADORA2A_uc011ajs.1_Silent_p.L137L|ADORA2A_uc010gup.2_Silent_p.L276L|ADORA2A_uc010guq.2_Silent_p.L276L|ADORA2A_uc003aab.2_Silent_p.L276L|ADORA2A_uc003aac.2_Silent_p.L137L|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 276 Helical; Name=7. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) CCATCGTCCTCTCCCACACCA 0.587 7 103 --- --- --- --- PASS ADORA2A 135 broad.mit.edu 37 22 24837160 24837160 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:24837160C>A uc002zzx.2 + 5 1705 c.942C>A c.(940-942)TTC>TTA p.F314L ADORA2A_uc002zzy.3_Missense_Mutation_p.F314L|ADORA2A_uc011ajs.1_Missense_Mutation_p.F175L|ADORA2A_uc010gup.2_Missense_Mutation_p.F314L|ADORA2A_uc010guq.2_Missense_Mutation_p.F314L|ADORA2A_uc003aab.2_Missense_Mutation_p.F314L|ADORA2A_uc003aac.2_Missense_Mutation_p.F175L|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 314 Cytoplasmic. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) AAGAACCTTTCAAGGCAGCTG 0.617 6 72 --- --- --- --- PASS C22orf36 388886 broad.mit.edu 37 22 24985841 24985841 + Missense_Mutation SNP A G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:24985841A>G uc003aaq.2 - 2 283 c.254T>C c.(253-255)ATC>ACC p.I85T GGT1_uc003aan.1_Intron|C22orf36_uc003aao.2_5'Flank|C22orf36_uc003aap.2_RNA NM_207644 NP_997527 Q2VPJ9 LRC6X_HUMAN hypothetical protein LOC388886 85 0 GTCATGGGAGATGGGGTCGAC 0.562 18 48 --- --- --- --- PASS ISX 91464 broad.mit.edu 37 22 35463100 35463100 + Missense_Mutation SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:35463100C>A uc003anj.2 + 1 971 c.20C>A c.(19-21)CCT>CAT p.P7H ISX_uc011amg.1_Translation_Start_Site NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 7 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 GAGGTGGGCCCTGCTCTCTGC 0.597 28 35 --- --- --- --- PASS ZC3H7B 23264 broad.mit.edu 37 22 41716691 41716691 + Silent SNP C T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:41716691C>T uc003azw.2 + 2 243 c.27C>T c.(25-27)GAC>GAT p.D9D ZC3H7B_uc003azv.1_Silent_p.D9D|ZC3H7B_uc010gyl.1_Intron NM_017590 NP_060060 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 9 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1) 1 GGAAGGCGGACATCGAGAAAG 0.607 26 173 --- --- --- --- PASS ZBED4 9889 broad.mit.edu 37 22 50278006 50278006 + Silent SNP T G G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr22:50278006T>G uc003bix.2 + 2 1166 c.696T>G c.(694-696)TCT>TCG p.S232S NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 232 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) TAGTTTCTTCTGAAGAAATCT 0.527 37 109 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83320047 83320047 + Missense_Mutation SNP A T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chrX:83320047A>T uc004eej.1 - 21 2121 c.2044T>A c.(2044-2046)TGG>AGG p.W682R RPS6KA6_uc011mqt.1_Missense_Mutation_p.W682R|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W579R NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 682 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 TGAGTTATCCATGAGTGCTTT 0.343 32 95 --- --- --- --- PASS TCEAL2 140597 broad.mit.edu 37 X 101382216 101382216 + Silent SNP C A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chrX:101382216C>A uc004eip.2 + 3 633 c.414C>A c.(412-414)GCC>GCA p.A138A NM_080390 NP_525129 Q9H3H9 TCAL2_HUMAN transcription elongation factor A (SII)-like 2 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 CCAGGAAAGCCAAAAGAAAAA 0.358 50 35 --- --- --- --- PASS NUP62CL 54830 broad.mit.edu 37 X 106410992 106410992 + Silent SNP G A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chrX:106410992G>A uc004ena.2 - 4 340 c.81C>T c.(79-81)ACC>ACT p.T27T NUP62CL_uc004enb.2_RNA NM_017681 NP_060151 Q9H1M0 N62CL_HUMAN nucleoporin 62kDa C-terminal like 27 Thr-rich. protein transport nuclear pore structural constituent of nuclear pore 0 tgaaagtggcggtggtagtcg 0.229 32 105 --- --- --- --- PASS L1CAM 3897 broad.mit.edu 37 X 153136600 153136600 + Silent SNP G T T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chrX:153136600G>T uc004fjb.2 - 5 543 c.435C>A c.(433-435)CCC>CCA p.P145P L1CAM_uc004fjc.2_Silent_p.P145P|L1CAM_uc010nuo.2_Silent_p.P140P|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.P140P NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 145 Extracellular (Potential).|Ig-like C2-type 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCACCTCCACGGGCTTCACTG 0.617 39 15 --- --- --- --- PASS LRRN2 10446 broad.mit.edu 37 1 204588718 204588718 + Frame_Shift_Del DEL G - - TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr1:204588718delG uc001hbe.1 - 3 791 c.403delC c.(403-405)CACfs p.H135fs MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Frame_Shift_Del_p.H135fs|LRRN2_uc009xbf.1_Frame_Shift_Del_p.H135fs|MDM4_uc001hbc.2_Intron NM_006338 NP_006329 O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 precursor 135 LRR 3.|Extracellular (Potential). cell adhesion integral to membrane receptor activity central_nervous_system(2) 2 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GCAAAGCTGTGGTCCTCCAGC 0.597 152 116 --- --- --- --- ZNF804A 91752 broad.mit.edu 37 2 185803334 185803334 + Frame_Shift_Del DEL C - - TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr2:185803334delC uc002uph.2 + 4 3805 c.3211delC c.(3211-3213)CCAfs p.P1071fs NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 1071 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 TACCTTTCCTCCAGCTGCCCT 0.458 100 48 --- --- --- --- RFTN1 23180 broad.mit.edu 37 3 16475533 16475534 + Frame_Shift_Ins INS - A A TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr3:16475533_16475534insA uc003cay.2 - 3 438_439 c.156_157insT c.(154-159)CCTGGGfs p.P52fs RFTN1_uc010hes.2_Frame_Shift_Ins_p.P16fs NM_015150 NP_055965 Q14699 RFTN1_HUMAN raft-linking protein 52_53 plasma membrane ovary(3)|central_nervous_system(1) 4 GCTGAGGACCCAGGGAGCTCCG 0.668 21 11 --- --- --- --- NEIL3 55247 broad.mit.edu 37 4 178272546 178272546 + Frame_Shift_Del DEL T - - TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr4:178272546delT uc003iut.2 + 7 999 c.882delT c.(880-882)ACTfs p.T294fs NEIL3_uc010irs.2_Intron NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 294 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) AGCTACCGACTAGAAATACTA 0.368 BER_DNA_glycosylases 44 51 --- --- --- --- CNTN5 53942 broad.mit.edu 37 11 99944959 99944959 + Frame_Shift_Del DEL C - - TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr11:99944959delC uc001pga.2 + 13 1852 c.1513delC c.(1513-1515)CCCfs p.P505fs CNTN5_uc009ywv.1_Frame_Shift_Del_p.P505fs|CNTN5_uc001pfz.2_Frame_Shift_Del_p.P505fs|CNTN5_uc001pgb.2_Frame_Shift_Del_p.P431fs NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 505 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AGAGTGCAAACCCCAAGGCTC 0.358 18 8 --- --- --- --- KIAA0284 283638 broad.mit.edu 37 14 105352885 105352890 + In_Frame_Del DEL GCAGGA - - rs60001925 TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 825bd82c-f8f8-4776-a7f5-713b3a574955 49c61aed-235e-47df-ad64-e31b0a84068f g.chr14:105352885_105352890delGCAGGA uc010axb.2 + 12 2533_2538 c.2309_2314delGCAGGA c.(2308-2316)CGCAGGAGC>CGC p.RS771del INF2_uc010tyi.1_Intron|KIAA0284_uc001ypr.2_In_Frame_Del_p.RS701del|KIAA0284_uc001yps.2_In_Frame_Del_p.RS677del|KIAA0284_uc001ypt.2_5'Flank NM_001112726 NP_001106197 Q9Y4F5 K0284_HUMAN hypothetical protein LOC283638 isoform 1 771_772 cytoplasm|microtubule breast(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.178) GACAGCAGACGCAGGAGCCCCCAGGA 0.694 5 5 --- --- --- ---