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 TNFRSF9 3604 broad.mit.edu 37 1 7995185 7995185 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:7995185C>T uc001aot.2 - 6 560 c.432G>A c.(430-432)AAG>AAA p.K144K NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 144 Extracellular (Potential).|TNFR-Cys 4. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) CAAGCACAGACTTTCCATCCA 0.468 19 59 --- --- --- --- PASS PLOD1 5351 broad.mit.edu 37 1 12027126 12027126 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:12027126A>T uc001atm.2 + 16 1824 c.1733A>T c.(1732-1734)CAG>CTG p.Q578L PLOD1_uc010obb.1_Missense_Mutation_p.Q625L NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 578 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) CACTTTGGCCAGTGGTCTCTG 0.632 36 78 --- --- --- --- PASS RHD 6007 broad.mit.edu 37 1 25628018 25628018 + Silent SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:25628018C>G uc001bjz.2 + 5 700 c.642C>G c.(640-642)CTC>CTG p.L214L RHD_uc010oep.1_Silent_p.L214L|RHD_uc001bkc.2_Silent_p.L214L|RHD_uc009vrm.2_Silent_p.L46L|RHD_uc001bka.2_Silent_p.L214L|RHD_uc001bkb.2_Silent_p.L214L|RHD_uc009vrn.2_Silent_p.L214L|RHD_uc009vro.2_Silent_p.L214L|RHD_uc009vrp.2_Silent_p.L214L NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 214 Helical; (Potential). integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGGCGCCCTCTTCTTGTGGA 0.537 7 184 --- --- --- --- PASS PTGER3 5733 broad.mit.edu 37 1 71512400 71512400 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:71512400G>T uc001dfg.1 - 1 1092 c.861C>A c.(859-861)ATC>ATA p.I287I PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Silent_p.I287I|PTGER3_uc001dfl.1_Silent_p.I287I|PTGER3_uc009wbm.1_Silent_p.I287I|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Silent_p.I287I|PTGER3_uc009wbn.1_Silent_p.I287I|PTGER3_uc009wbo.2_Silent_p.I287I|PTGER3_uc001dfo.2_Silent_p.I287I|PTGER3_uc001dfp.1_Silent_p.I287I|PTGER3_uc001dfq.2_Silent_p.I287I|uc001dfr.2_RNA NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 287 Helical; Name=6; (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) GCACGCACATGATCCCCATAA 0.627 23 74 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74954877 74954877 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:74954877G>T uc001dgf.1 + 22 2177 c.2126G>T c.(2125-2127)AGA>ATA p.R709I TNNI3K_uc001dge.1_Missense_Mutation_p.R810I NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 709 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 TTACAGGGAAGACCCGAATTT 0.343 28 91 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75078454 75078454 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:75078454G>T uc001dgg.2 - 9 1259 c.1040C>A c.(1039-1041)CCC>CAC p.P347H uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.P141H NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 347 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 GAGACTGAAGGGGAAACCATG 0.413 16 44 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76343990 76343990 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:76343990A>G uc001dhd.1 + 11 1568 c.1527A>G c.(1525-1527)GTA>GTG p.V509V NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 509 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 CAGAGATTGTAGATGACATAG 0.373 MMR 8 64 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76349469 76349469 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:76349469A>T uc001dhd.1 + 15 2111 c.2070A>T c.(2068-2070)TTA>TTT p.L690F NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 690 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 CCACATATTTAAAACAGATTG 0.348 MMR 39 107 --- --- --- --- PASS DNASE2B 58511 broad.mit.edu 37 1 84880477 84880477 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:84880477T>C uc001djt.1 + 6 1045 c.1012T>C c.(1012-1014)TTC>CTC p.F338L DNASE2B_uc001dju.1_Missense_Mutation_p.F130L|DNASE2B_uc009wch.1_Missense_Mutation_p.F130L NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta isoform 1 precursor 338 DNA metabolic process lysosome deoxyribonuclease II activity 0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) AAGTGGAGGATTCATTTGTAC 0.408 Direct_reversal_of_damage 33 64 --- --- --- --- PASS BARHL2 343472 broad.mit.edu 37 1 91182612 91182612 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:91182612G>A uc001dns.2 - 1 183 c.141C>T c.(139-141)GCC>GCT p.A47A NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 47 nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) GAGATGGGGTGGCCTGACTCC 0.592 59 101 --- --- --- --- PASS EVI5 7813 broad.mit.edu 37 1 93202101 93202101 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:93202101C>A uc001dox.2 - 2 145 c.135G>T c.(133-135)ATG>ATT p.M45I EVI5_uc010otf.1_Missense_Mutation_p.M45I NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 45 Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Ser-rich. 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) CCTGACTGGCCATCTGACTGA 0.458 61 156 --- --- --- --- PASS AMY2B 280 broad.mit.edu 37 1 104120169 104120169 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:104120169A>T uc001duq.2 + 10 1775 c.1159A>T c.(1159-1161)ATT>TTT p.I387F AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.I387F|AMY2B_uc001dus.1_RNA NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 387 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) AGAAGTTACTATTAATCCAGA 0.353 72 163 --- --- --- --- PASS FAM102B 284611 broad.mit.edu 37 1 109143220 109143220 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:109143220G>A uc010ouy.1 + 2 250 c.170G>A c.(169-171)AGA>AAA p.R57K NM_001010883 NP_001010883 Q5T8I3 F102B_HUMAN hypothetical protein LOC284611 57 large_intestine(1) 1 all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182) GTTCGCTGGAGAAAGAAGTTC 0.388 9 80 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114308799 114308799 + Silent SNP T G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:114308799T>G uc001edq.2 - 7 2248 c.2212A>C c.(2212-2214)AGG>CGG p.R738R RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 738 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTTTTATCCTCACACATTGG 0.418 11 192 --- --- --- --- PASS IGSF3 3321 broad.mit.edu 37 1 117150804 117150804 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:117150804T>C uc001egr.1 - 5 1687 c.982A>G c.(982-984)ATG>GTG p.M328V IGSF3_uc001egq.1_Missense_Mutation_p.M328V|IGSF3_uc001egs.1_Missense_Mutation_p.M1V NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 328 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TTAGGACCCATGGTGGCGATG 0.577 7 21 --- --- --- --- PASS SPAG17 200162 broad.mit.edu 37 1 118539335 118539335 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:118539335A>G uc001ehk.2 - 33 4876 c.4808T>C c.(4807-4809)TTA>TCA p.L1603S NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1603 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TTTTTCAGGTAATATAGTTGA 0.338 26 84 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152188349 152188349 + Nonsense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:152188349G>T uc001ezt.1 - 3 5832 c.5756C>A c.(5755-5757)TCA>TAA p.S1919* NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 1919 21. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCTGGAAGATGAACCTGAGCT 0.577 31 901 --- --- --- --- PASS LCE4A 199834 broad.mit.edu 37 1 152681748 152681748 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:152681748A>G uc001fak.2 + 1 226 c.197A>G c.(196-198)CAT>CGT p.H66R NM_178356 NP_848133 Q5TA78 LCE4A_HUMAN late cornified envelope 4A 66 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CACAGACACCATAGGTCCCAC 0.627 35 76 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157667548 157667548 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:157667548C>A uc001frb.2 - 5 752 c.460G>T c.(460-462)GTC>TTC p.V154F FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.V154F|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.V154F NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 154 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TCCCTGGAGACTGAATTCACT 0.343 47 158 --- --- --- --- PASS OR10J3 441911 broad.mit.edu 37 1 159283599 159283599 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:159283599G>T uc010piu.1 - 1 851 c.851C>A c.(850-852)CCT>CAT p.P284H NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 284 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) GGGTTCAGTAGGGGAGTGATG 0.507 40 124 --- --- --- --- PASS DCAF8 50717 broad.mit.edu 37 1 160209596 160209596 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:160209596C>A uc001fvo.2 - 4 926 c.614G>T c.(613-615)GGC>GTC p.G205V DCAF8_uc001fvn.2_Missense_Mutation_p.G205V|DCAF8_uc009wth.2_Missense_Mutation_p.G205V|DCAF8_uc010pjb.1_Missense_Mutation_p.G205V|DCAF8_uc010pjc.1_Missense_Mutation_p.G359V|DCAF8_uc001fvq.3_Missense_Mutation_p.G205V|DCAF8_uc001fvp.3_Missense_Mutation_p.G205V|uc010pjd.1_Missense_Mutation_p.P43T NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 205 WD 1. CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 CAGCCAGGTGCCGCGCTGGTT 0.582 26 46 --- --- --- --- PASS C1orf129 80133 broad.mit.edu 37 1 170928624 170928624 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:170928624G>T uc001ghg.2 + 5 304 c.174G>T c.(172-174)CAG>CAT p.Q58H C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.Q58H NM_025063 NP_079339 Q5TGP6 CA129_HUMAN hypothetical protein LOC80133 isoform 2 58 binding pancreas(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CCTTACTGCAGTTTGAATCTC 0.328 5 90 --- --- --- --- PASS FMO1 2326 broad.mit.edu 37 1 171250059 171250059 + Nonsense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:171250059G>A uc009wvz.2 + 6 898 c.762G>A c.(760-762)TGG>TGA p.W254* FMO1_uc010pme.1_Nonsense_Mutation_p.W191*|FMO1_uc001ghl.2_Nonsense_Mutation_p.W254*|FMO1_uc001ghm.2_Nonsense_Mutation_p.W254*|FMO1_uc001ghn.2_Nonsense_Mutation_p.W254* NM_002021 NP_002012 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 254 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTGTGACTTGGTTGATGGAGC 0.443 4 120 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176903441 176903441 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:176903441T>C uc001glc.2 - 16 2730 c.2518A>G c.(2518-2520)ACA>GCA p.T840A ASTN1_uc001glb.1_Missense_Mutation_p.T840A|ASTN1_uc001gld.1_Missense_Mutation_p.T840A NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 848 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCACGAGATGTAGCCCCATCC 0.527 13 54 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 185704138 185704138 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:185704138G>A uc001grq.1 + 1 456 c.227G>A c.(226-228)AGA>AAA p.R76K NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 76 VWFA. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGACCTAAAAGACCTCTTTTC 0.368 15 114 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067614 190067614 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:190067614A>G uc001gse.1 - 8 2067 c.1835T>C c.(1834-1836)TTA>TCA p.L612S FAM5C_uc010pot.1_Missense_Mutation_p.L510S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 612 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CCCCAGAGTTAATGTCCAGTT 0.453 122 285 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190068100 190068100 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:190068100A>T uc001gse.1 - 8 1581 c.1349T>A c.(1348-1350)CTG>CAG p.L450Q FAM5C_uc010pot.1_Missense_Mutation_p.L348Q NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 450 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGCGCATGTCAGGCAGGCAGA 0.637 31 58 --- --- --- --- PASS FAM71A 149647 broad.mit.edu 37 1 212798765 212798765 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:212798765C>T uc001hjk.2 + 1 950 c.546C>T c.(544-546)AGC>AGT p.S182S uc010pth.1_RNA NM_153606 NP_705834 Q8IYT1 FA71A_HUMAN hypothetical protein LOC149647 182 skin(3)|ovary(1)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) AGAGTAACAGCAGTACCTGTG 0.517 6 158 --- --- --- --- PASS MOSC2 54996 broad.mit.edu 37 1 220955184 220955184 + Missense_Mutation SNP T G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:220955184T>G uc001hmq.2 + 7 1147 c.949T>G c.(949-951)TAT>GAT p.Y317D MOSC2_uc001hmr.2_Missense_Mutation_p.Y317D|MOSC2_uc009xdx.2_Intron NM_017898 NP_060368 Q969Z3 MOSC2_HUMAN MOCO sulphurase C-terminal domain containing 2 317 MOSC. mitochondrial outer membrane|peroxisome molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding 0 GBM - Glioblastoma multiforme(131;0.00499)|all cancers(67;0.204) TGGGATCTATTATTCAGTGGA 0.428 7 224 --- --- --- --- PASS LIN9 286826 broad.mit.edu 37 1 226496852 226496852 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:226496852C>A uc001hqa.2 - 1 347 c.37G>T c.(37-39)GGC>TGC p.G13C LIN9_uc001hqb.2_Missense_Mutation_p.G13C|LIN9_uc001hqc.2_Intron|LIN9_uc009xel.1_Missense_Mutation_p.G13C NM_173083 NP_775106 Q5TKA1 LIN9_HUMAN lin-9 homolog Error:Variant_position_missing_in_Q5TKA1_after_alignment cell cycle|DNA replication nucleoplasm 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.131) TTGAACGAGCCGCGCCGCTTT 0.587 19 55 --- --- --- --- PASS ARID4B 51742 broad.mit.edu 37 1 235345368 235345368 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:235345368G>T uc001hwq.2 - 20 3364 c.2866C>A c.(2866-2868)CCG>ACG p.P956T ARID4B_uc001hwr.2_Missense_Mutation_p.P870T|ARID4B_uc001hws.3_Missense_Mutation_p.P870T|ARID4B_uc001hwp.2_RNA|ARID4B_uc001hwt.3_Missense_Mutation_p.P637T NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 956 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GCAGGATGCGGTGGGGAAGCT 0.512 6 140 --- --- --- --- PASS MTR 4548 broad.mit.edu 37 1 236998969 236998969 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:236998969C>T uc001hyi.3 + 14 1734 c.1311C>T c.(1309-1311)TCC>TCT p.S437S MTR_uc010pxw.1_Silent_p.S30S|MTR_uc010pxx.1_Silent_p.S437S|MTR_uc010pxy.1_Silent_p.S437S NM_000254 NP_000245 Q99707 METH_HUMAN 5-methyltetrahydrofolate-homocysteine 437 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TAATTGCTTCCGAGCCAGACA 0.438 25 181 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947865 237947865 + Missense_Mutation SNP T G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:237947865T>G uc001hyl.1 + 90 12973 c.12853T>G c.(12853-12855)TCA>GCA p.S4285A RYR2_uc010pya.1_Missense_Mutation_p.S700A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4285 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) GGCCTTCTTTTCATCCTACTG 0.473 18 29 --- --- --- --- PASS PLD5 200150 broad.mit.edu 37 1 242511451 242511451 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr1:242511451C>A uc001hzn.1 - 2 410 c.283G>T c.(283-285)GAT>TAT p.D95Y PLD5_uc001hzl.3_Missense_Mutation_p.D33Y|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_5'UTR Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 95 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CCATCCTCATCCTCTCCCATG 0.458 37 129 --- --- --- --- PASS KCNF1 3754 broad.mit.edu 37 2 11053971 11053971 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:11053971C>T uc002rax.2 + 1 1909 c.1419C>T c.(1417-1419)AGC>AGT p.S473S NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 473 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) TCTCCCACAGCGACACCTTCA 0.672 11 64 --- --- --- --- PASS EMILIN1 11117 broad.mit.edu 37 2 27303605 27303605 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:27303605G>A uc002rii.3 + 3 724 c.296G>A c.(295-297)CGC>CAC p.R99H EMILIN1_uc010eyq.1_Missense_Mutation_p.R99H|EMILIN1_uc002rik.3_5'Flank NM_007046 NP_008977 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 precursor 99 EMI. cell adhesion collagen pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCAGGTACCGCCGCTTCCTC 0.622 OREG0014513 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 27 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56420240 56420240 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:56420240C>A uc002rzn.2 + 2 1407 c.905C>A c.(904-906)CCC>CAC p.P302H NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 302 His-rich. breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGGAGCAGCCCCGAAACGCTG 0.642 8 116 --- --- --- --- PASS NAGK 55577 broad.mit.edu 37 2 71305540 71305540 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:71305540C>G uc002shp.3 + 10 1343 c.937C>G c.(937-939)CTG>GTG p.L313V NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.L164V|NAGK_uc002shr.2_Missense_Mutation_p.L262V NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 313 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) CTCCTCCGCTCTGGGTGGGGC 0.592 22 68 --- --- --- --- PASS REG3A 5068 broad.mit.edu 37 2 79385540 79385540 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:79385540C>A uc002sod.1 - 3 500 c.245G>T c.(244-246)GGG>GTG p.G82V REG3A_uc002soe.1_Missense_Mutation_p.G82V|REG3A_uc002sof.1_Missense_Mutation_p.G82V NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 82 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 TCCCTCAGCCCCACTGAGCAC 0.567 30 73 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141707850 141707850 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:141707850G>T uc002tvj.1 - 20 4062 c.3090C>A c.(3088-3090)GAC>GAA p.D1030E LRP1B_uc010fnl.1_Missense_Mutation_p.D212E NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1030 Extracellular (Potential).|LDL-receptor class A 7. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AGTCCCCACAGTCATTGTCAC 0.403 TSP Lung(27;0.18) 23 79 --- --- --- --- PASS MBD5 55777 broad.mit.edu 37 2 149243368 149243368 + Nonsense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:149243368C>A uc002twm.3 + 11 3891 c.2903C>A c.(2902-2904)TCG>TAG p.S968* MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Nonsense_Mutation_p.S968*|MBD5_uc002two.2_Nonsense_Mutation_p.S226*|MBD5_uc002twp.2_Nonsense_Mutation_p.S18* NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 968 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) CATCTACAGTCGCTGTTAAAC 0.378 8 58 --- --- --- --- PASS GRB14 2888 broad.mit.edu 37 2 165404254 165404254 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:165404254C>G uc002ucl.2 - 3 938 c.397G>C c.(397-399)GTT>CTT p.V133L GRB14_uc010zcv.1_Missense_Mutation_p.V46L|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 133 Ras-associating. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 AGCTGACAAACATCTCGAGCC 0.438 9 48 --- --- --- --- PASS MYO3B 140469 broad.mit.edu 37 2 171238525 171238525 + Splice_Site SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:171238525G>A uc002ufy.2 + 10 1115 c.972_splice c.e10-1 p.R324_splice MYO3B_uc002ufv.2_Splice_Site_p.R311_splice|MYO3B_uc010fqb.1_Splice_Site_p.R311_splice|MYO3B_uc002ufz.2_Splice_Site_p.R324_splice|MYO3B_uc002ufw.2_Splice_Site|MYO3B_uc002ufx.2_Splice_Site|MYO3B_uc002uga.2_Splice_Site_p.R311_splice|MYO3B_uc002ugb.2_Splice_Site NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 TAAATTTCTAGGCATGAGAGG 0.408 21 101 --- --- --- --- PASS OSBPL6 114880 broad.mit.edu 37 2 179259114 179259114 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:179259114G>T uc002ulx.2 + 24 3026 c.2648G>T c.(2647-2649)AGA>ATA p.R883I OSBPL6_uc002uly.2_Missense_Mutation_p.R908I|OSBPL6_uc010zfe.1_Missense_Mutation_p.R852I|OSBPL6_uc002ulz.2_Missense_Mutation_p.R847I|OSBPL6_uc002uma.2_Missense_Mutation_p.R887I NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 883 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGATCTCGGAGACGATATATG 0.358 56 200 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179431458 179431458 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:179431458A>G uc010zfg.1 - 275 71921 c.71697T>C c.(71695-71697)GCT>GCC p.A23899A uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.A17594A|TTN_uc010zfi.1_Silent_p.A17527A|TTN_uc010zfj.1_Silent_p.A17402A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 24826 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) CCCCAACTCCAGCAGCATTTT 0.428 67 206 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179437396 179437396 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:179437396T>C uc010zfg.1 - 275 65983 c.65759A>G c.(65758-65760)AAT>AGT p.N21920S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N15615S|TTN_uc010zfi.1_Missense_Mutation_p.N15548S|TTN_uc010zfj.1_Missense_Mutation_p.N15423S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 22847 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) TCTGTTTACATTTCCAACAAT 0.438 3 218 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179667009 179667009 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:179667009G>C uc002und.2 - 3 376 c.151C>G c.(151-153)CTG>GTG p.L51V TTN_uc010zfg.1_Missense_Mutation_p.L51V|TTN_uc010zfh.1_Missense_Mutation_p.L51V|TTN_uc010zfi.1_Missense_Mutation_p.L51V|TTN_uc010zfj.1_Missense_Mutation_p.L51V|TTN_uc002unb.2_Missense_Mutation_p.L51V Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 51 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) ACGCCGGGCAGAGTGGAAGTG 0.517 4 101 --- --- --- --- PASS CERKL 375298 broad.mit.edu 37 2 182430786 182430786 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:182430786C>G uc002unx.2 - 4 777 c.676G>C c.(676-678)GGT>CGT p.G226R CERKL_uc002uny.2_Missense_Mutation_p.G226R|CERKL_uc010zfm.1_Missense_Mutation_p.G182R|CERKL_uc002unz.2_Intron|CERKL_uc002uoa.2_Intron|CERKL_uc002uob.2_Intron|CERKL_uc002uoc.2_Intron|CERKL_uc010frk.2_Intron|CERKL_uc002uod.1_Missense_Mutation_p.G21R|CERKL_uc002uoe.2_Missense_Mutation_p.G226R NM_001030311 NP_001025482 Q49MI3 CERKL_HUMAN ceramide kinase-like isoform b 226 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|endoplasmic reticulum|Golgi apparatus|Golgi apparatus|nucleolus|nucleolus diacylglycerol kinase activity ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.088) ATAACCTACCCATCAAATCCC 0.308 3 111 --- --- --- --- PASS NCKAP1 10787 broad.mit.edu 37 2 183866998 183866998 + Splice_Site SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:183866998C>T uc002upc.2 - 5 772 c.370_splice c.e5-1 p.T124_splice NCKAP1_uc002upb.2_Splice_Site_p.T130_splice NM_013436 NP_038464 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 isoform 1 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) AGTTTACAGTCTAGGAGAAAA 0.284 7 64 --- --- --- --- PASS ITGAV 3685 broad.mit.edu 37 2 187455140 187455140 + Silent SNP A G G rs144478131 TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:187455140A>G uc002upq.2 + 1 351 c.75A>G c.(73-75)CTA>CTG p.L25L ITGAV_uc010frs.2_Silent_p.L25L NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 25 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTCCTGCTACCTCTGTGCC 0.667 12 68 --- --- --- --- PASS MARS2 92935 broad.mit.edu 37 2 198570870 198570870 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:198570870C>T uc002uuq.2 + 1 784 c.741C>T c.(739-741)GAC>GAT p.D247D uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 247 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) AGTGGCTGGACGAGGAGCTGC 0.612 5 114 --- --- --- --- PASS SPATS2L 26010 broad.mit.edu 37 2 201305442 201305442 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:201305442G>C uc002uvn.3 + 8 1075 c.723G>C c.(721-723)ATG>ATC p.M241I SPATS2L_uc010fst.2_Missense_Mutation_p.M241I|SPATS2L_uc002uvo.3_Missense_Mutation_p.M181I|SPATS2L_uc002uvp.3_Missense_Mutation_p.M241I|SPATS2L_uc002uvq.3_Missense_Mutation_p.M172I|SPATS2L_uc002uvr.3_Missense_Mutation_p.M241I|SPATS2L_uc010zhc.1_Missense_Mutation_p.M271I NM_015535 NP_056350 Q9NUQ6 SPS2L_HUMAN SPATS2-like protein isoform a 241 cytoplasm|nucleolus ovary(2)|pancreas(1) 3 ATCGCGTCATGATTAAGGAAG 0.373 3 159 --- --- --- --- PASS NIF3L1 60491 broad.mit.edu 37 2 201756740 201756740 + Missense_Mutation SNP G A A rs79840632 by1000genomes TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:201756740G>A uc002uwm.2 + 2 165 c.74G>A c.(73-75)CGT>CAT p.R25H PPIL3_uc002uwh.2_5'Flank|PPIL3_uc002uwi.2_5'Flank|PPIL3_uc002uwj.2_5'Flank|PPIL3_uc002uwk.2_5'Flank|NIF3L1_uc002uwl.2_5'UTR|NIF3L1_uc002uwn.2_5'UTR|NIF3L1_uc002uwo.2_Missense_Mutation_p.R25H|NIF3L1_uc002uwp.2_Missense_Mutation_p.R25H|NIF3L1_uc002uwq.2_Missense_Mutation_p.R25H NM_001136039 NP_001129511 Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 isoform 1 25 positive regulation of transcription, DNA-dependent transcription factor binding skin(1) 1 AATTCTTCCCGTTCCTTCATG 0.463 6 146 --- --- --- --- PASS TRAK2 66008 broad.mit.edu 37 2 202259537 202259537 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:202259537C>T uc002uyb.3 - 9 1405 c.959G>A c.(958-960)CGG>CAG p.R320Q NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 320 Potential. Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 TGTCAGTTGCCGTTGGGCATC 0.363 4 153 --- --- --- --- PASS STRADB 55437 broad.mit.edu 37 2 202334695 202334695 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:202334695C>T uc002uyd.3 + 4 478 c.113C>T c.(112-114)TCC>TTC p.S38F NM_018571 NP_061041 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 38 activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity skin(2)|stomach(1)|lung(1) 4 CCAACCCTTTCCTGGTCACGT 0.388 17 117 --- --- --- --- PASS RHBDD1 84236 broad.mit.edu 37 2 227779053 227779053 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:227779053G>T uc002voi.2 + 6 963 c.842G>T c.(841-843)AGC>ATC p.S281I RHBDD1_uc010fxc.2_Missense_Mutation_p.S281I|RHBDD1_uc002voj.2_Missense_Mutation_p.S112I NM_032276 NP_115652 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 281 integral to membrane serine-type endopeptidase activity ovary(1) 1 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) TTACAAGCCAGCCTCTGGGAC 0.463 28 11 --- --- --- --- PASS SP110 3431 broad.mit.edu 37 2 231077723 231077723 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:231077723C>T uc002vqh.3 - 4 576 c.336G>A c.(334-336)CGG>CGA p.R112R SP110_uc002vqg.3_Silent_p.R112R|SP110_uc002vqi.3_Silent_p.R112R|SP110_uc010fxk.2_Nonsense_Mutation_p.W112* NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 112 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CTCTGCTCTGCCATTCATAGG 0.537 9 78 --- --- --- --- PASS CAPN10 11132 broad.mit.edu 37 2 241531369 241531369 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr2:241531369C>A uc002vzk.1 + 4 674 c.490C>A c.(490-492)CAC>AAC p.H164N CAPN10_uc010zoh.1_Missense_Mutation_p.H164N|CAPN10_uc002vzl.1_Missense_Mutation_p.H164N|CAPN10_uc002vzm.1_Intron|CAPN10_uc002vzn.1_Missense_Mutation_p.H36N|CAPN10_uc002vzo.1_RNA|CAPN10_uc010fzg.1_RNA|CAPN10_uc002vzp.1_RNA|CAPN10_uc002vzq.1_Intron NM_023083 NP_075571 Q9HC96 CAN10_HUMAN calpain 10 isoform a 164 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding ovary(3)|large_intestine(2)|lung(1) 6 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) GTCCTACGAGCACCTGTGGGC 0.637 12 14 --- --- --- --- PASS BRPF1 7862 broad.mit.edu 37 3 9788857 9788857 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:9788857C>T uc003bse.2 + 14 3868 c.3469C>T c.(3469-3471)CTG>TTG p.L1157L BRPF1_uc003bsf.2_Silent_p.L1163L|BRPF1_uc003bsg.2_Silent_p.L1156L|BRPF1_uc011ati.1_Silent_p.L1062L|OGG1_uc003bsh.2_5'Flank|OGG1_uc003bsi.2_5'Flank|OGG1_uc003bsj.2_5'Flank|OGG1_uc003bsk.2_5'Flank|OGG1_uc003bsl.2_5'Flank|OGG1_uc003bsm.2_5'Flank|OGG1_uc003bsn.2_5'Flank|OGG1_uc003bso.2_5'Flank NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 1157 PWWP. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) TAGGCAGTGGCTGCCCAGGAC 0.517 22 208 --- --- --- --- PASS DAZL 1618 broad.mit.edu 37 3 16636046 16636046 + Silent SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:16636046T>A uc003cbb.2 - 8 909 c.615A>T c.(613-615)GTA>GTT p.V205V DAZL_uc003cba.2_Silent_p.V225V NM_001351 NP_001342 Q92904 DAZL_HUMAN deleted in azoospermia-like 205 germ cell development|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm|nucleus nucleotide binding|protein binding|RNA binding|translation activator activity 0 TTACCGGAGGTACAACATAGC 0.299 15 19 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19436644 19436644 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:19436644C>T uc003cbk.1 + 7 1213 c.1018C>T c.(1018-1020)CGT>TGT p.R340C KCNH8_uc011awe.1_Missense_Mutation_p.R340C|KCNH8_uc010hex.1_5'UTR|KCNH8_uc011awf.1_5'UTR NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 340 Helical; Voltage-sensor; Name=Segment S4; (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GCGTCTTTTGCGTCTGCTGCA 0.488 25 102 --- --- --- --- PASS EOMES 8320 broad.mit.edu 37 3 27759046 27759046 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:27759046G>T uc003cdx.2 - 6 1576 c.1576C>A c.(1576-1578)CCT>ACT p.P526T EOMES_uc003cdy.3_Missense_Mutation_p.P545T|EOMES_uc010hfn.2_3'UTR|EOMES_uc011axc.1_Missense_Mutation_p.P250T NM_005442 NP_005433 O95936 EOMES_HUMAN eomesodermin 526 CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|breast(1) 4 TTGGTCCCAGGTTGCTGGACA 0.532 87 88 --- --- --- --- PASS GOLGA4 2803 broad.mit.edu 37 3 37366072 37366072 + Nonsense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:37366072C>T uc003cgv.2 + 14 2999 c.2695C>T c.(2695-2697)CAG>TAG p.Q899* GOLGA4_uc010hgr.1_Nonsense_Mutation_p.Q460*|GOLGA4_uc003cgw.2_Nonsense_Mutation_p.Q921*|GOLGA4_uc010hgs.2_Intron|GOLGA4_uc003cgx.2_Nonsense_Mutation_p.Q780* NM_002078 NP_002069 Q13439 GOGA4_HUMAN golgi autoantigen, golgin subfamily a, 4 899 Potential.|Glu-rich. Golgi to plasma membrane protein transport Golgi membrane|trans-Golgi network protein binding ovary(2)|breast(1)|central_nervous_system(1) 4 TAACAAAGAACAGGAACAGAC 0.333 29 20 --- --- --- --- PASS SCN5A 6331 broad.mit.edu 37 3 38592636 38592636 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:38592636C>T uc003cio.2 - 28 5421 c.5227G>A c.(5227-5229)GGG>AGG p.G1743R SCN5A_uc003cin.2_Missense_Mutation_p.G1742R|SCN5A_uc003cil.3_Missense_Mutation_p.G1743R|SCN5A_uc010hhi.2_Missense_Mutation_p.G1725R|SCN5A_uc010hhk.2_Missense_Mutation_p.G1710R|SCN5A_uc011ayr.1_Missense_Mutation_p.G1689R NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 1743 G -> E (in BRS1).|G -> R (in BRS1; yields nearly undetectable currents in transfected cells). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCTGGGCTCCCGCAGTCCCCC 0.607 16 18 --- --- --- --- PASS MYL3 4634 broad.mit.edu 37 3 46901133 46901133 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:46901133T>C uc003cql.1 - 4 406 c.313A>G c.(313-315)AAT>GAT p.N105D NM_000258 NP_000249 P08590 MYL3_HUMAN slow skeletal ventricular myosin alkali light 105 cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis A band|cytosol|I band|muscle myosin complex actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle 0 BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063) ATCTTGGTATTGAGCTCTGCA 0.547 30 63 --- --- --- --- PASS ARIH2 10425 broad.mit.edu 37 3 49002404 49002404 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:49002404C>G uc003cvb.2 + 5 688 c.376C>G c.(376-378)CCA>GCA p.P126A ARIH2_uc003cvc.2_Missense_Mutation_p.P126A|ARIH2_uc003cvf.2_Missense_Mutation_p.P44A|ARIH2_uc010hkl.2_Missense_Mutation_p.P126A NM_006321 NP_006312 O95376 ARI2_HUMAN ariadne homolog 2 126 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TCAGCCTAATCCATCAAAACA 0.393 29 38 --- --- --- --- PASS PPP4R2 151987 broad.mit.edu 37 3 73108204 73108204 + Nonsense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:73108204C>T uc003dph.1 + 4 374 c.304C>T c.(304-306)CAG>TAG p.Q102* PPP4R2_uc003dpi.1_Nonsense_Mutation_p.Q45*|FLJ10213_uc003dpj.2_5'Flank NM_174907 NP_777567 Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 102 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity lung(1) 1 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) TTTTACTATTCAGCGACTATG 0.313 29 30 --- --- --- --- PASS IMPG2 50939 broad.mit.edu 37 3 101023099 101023099 + Missense_Mutation SNP C A A rs147901568 byFrequency TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:101023099C>A uc003duq.1 - 3 595 c.392G>T c.(391-393)CGT>CTT p.R131L IMPG2_uc011bhe.1_5'UTR NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 131 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 ATATTCCTCACGCCCAGGAAG 0.398 4 144 --- --- --- --- PASS ZPLD1 131368 broad.mit.edu 37 3 102157338 102157338 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:102157338C>A uc003dvs.1 + 9 889 c.7C>A c.(7-9)CAA>AAA p.Q3K ZPLD1_uc003dvt.1_Missense_Mutation_p.Q19K|ZPLD1_uc011bhg.1_Missense_Mutation_p.Q3K NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 3 integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 TGCAATGGAACAAATATGGTT 0.458 15 32 --- --- --- --- PASS IFT57 55081 broad.mit.edu 37 3 107938410 107938410 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:107938410A>G uc003dwx.3 - 2 470 c.222T>C c.(220-222)TTT>TTC p.F74F NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 74 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) TAGGCAGTGCAAAATAGTGTC 0.423 21 95 --- --- --- --- PASS C3orf17 25871 broad.mit.edu 37 3 112727209 112727209 + Silent SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:112727209C>G uc003dzr.2 - 8 1105 c.1044G>C c.(1042-1044)GTG>GTC p.V348V GTPBP8_uc011bhy.1_Intron|C3orf17_uc003dzq.2_5'UTR|C3orf17_uc011bhz.1_5'UTR|C3orf17_uc010hqh.2_5'UTR|C3orf17_uc003dzt.2_Silent_p.V251V|C3orf17_uc003dzs.2_Silent_p.V212V|C3orf17_uc010hqg.2_Silent_p.V173V|C3orf17_uc011bia.1_Silent_p.V145V|C3orf17_uc003dzu.2_Silent_p.V277V|C3orf17_uc011bib.1_Silent_p.V237V|C3orf17_uc011bic.1_Silent_p.V181V|C3orf17_uc011bid.1_RNA NM_015412 NP_056227 Q6NW34 CC017_HUMAN hypothetical protein LOC25871 348 integral to membrane 0 GAGTTCCTATCACTTTCTGAG 0.388 17 71 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113138979 113138979 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:113138979A>G uc003eae.1 - 5 501 c.455T>C c.(454-456)CTG>CCG p.L152P NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 152 central_nervous_system(1) 1 ACTGTCGTCCAGAAGTTGTAG 0.428 14 46 --- --- --- --- PASS PLA1A 51365 broad.mit.edu 37 3 119327761 119327761 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:119327761C>A uc003ecu.2 + 3 459 c.420C>A c.(418-420)AGC>AGA p.S140R PLA1A_uc003ecv.2_Intron|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_5'UTR NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 140 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TTAAGTTGAGCCTCGAGATCT 0.473 38 90 --- --- --- --- PASS RAB43 339122 broad.mit.edu 37 3 128875486 128875486 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:128875486C>T uc003elo.1 - 5 388 c.177G>A c.(175-177)CAG>CAA p.Q59Q ISY1_uc010hsz.1_5'UTR|ISY1_uc003elp.1_Silent_p.Q59Q|ISY1_uc010hta.1_Silent_p.Q59Q NM_020701 NP_065752 Q86YS6 RAB43_HUMAN ISY1 splicing factor homolog Error:Variant_position_missing_in_Q86YS6_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding lung(1) 1 CATTCTGAATCTGAGCCACTT 0.194 24 97 --- --- --- --- PASS CPB1 1360 broad.mit.edu 37 3 148562525 148562525 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:148562525C>A uc003ewl.2 + 8 772 c.749C>A c.(748-750)CCC>CAC p.P250H NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 250 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) GGCACAGACCCCAACAGAAAT 0.403 31 113 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164735594 164735594 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:164735594C>T uc003fei.2 - 30 3650 c.3588G>A c.(3586-3588)ATG>ATA p.M1196I NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1196 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGCCCAAAAACATATAAAAAT 0.328 HNSCC(35;0.089) 6 100 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164907320 164907320 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:164907320G>A uc003fej.3 - 2 1743 c.1299C>T c.(1297-1299)TCC>TCT p.S433S SLITRK3_uc003fek.2_Silent_p.S433S NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 433 LRR 8.|Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 AGAGATCCAAGGAAGAAAAAT 0.408 HNSCC(40;0.11) 4 104 --- --- --- --- PASS TBL1XR1 79718 broad.mit.edu 37 3 176756174 176756174 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:176756174C>G uc003fiw.3 - 11 1234 c.974G>C c.(973-975)TGT>TCT p.C325S TBL1XR1_uc003fix.3_Missense_Mutation_p.C325S|TBL1XR1_uc011bpz.1_5'UTR NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 325 WD 4. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) ATCTGTACTACAAGAAGCAAA 0.373 4 25 --- --- --- --- PASS KCNMB2 10242 broad.mit.edu 37 3 178560680 178560680 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:178560680G>A uc003fjd.2 + 5 1006 c.663G>A c.(661-663)CAG>CAA p.Q221Q uc003fjb.1_Intron|uc003fjc.1_Intron|KCNMB2_uc003fje.2_Silent_p.Q221Q|KCNMB2_uc003fjf.2_Silent_p.Q221Q|KCNMB2_uc011bqa.1_Intron|KCNMB2_uc011bqb.1_RNA NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN calcium-activated potassium channel beta 2 221 Cytoplasmic (Potential). detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity ovary(1) 1 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) AACTTACACAGTACCTCTCCC 0.398 16 172 --- --- --- --- PASS CLDN16 10686 broad.mit.edu 37 3 190126224 190126224 + Silent SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:190126224C>A uc003fsi.2 + 4 782 c.714C>A c.(712-714)CTC>CTA p.L238L CLDN16_uc010hze.2_Intron NM_006580 NP_006571 Q9Y5I7 CLD16_HUMAN claudin 16 238 Extracellular (Potential). calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) CCTGTTGGCTCGGAATGGCTG 0.388 5 361 --- --- --- --- PASS ATP13A4 84239 broad.mit.edu 37 3 193158357 193158357 + Nonsense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:193158357G>A uc003ftd.2 - 21 2617 c.2509C>T c.(2509-2511)CAG>TAG p.Q837* ATP13A4_uc003fte.1_Nonsense_Mutation_p.Q837*|ATP13A4_uc011bsr.1_Nonsense_Mutation_p.Q308*|ATP13A4_uc010hzi.2_RNA NM_032279 NP_115655 Q4VNC1 AT134_HUMAN ATPase type 13A4 837 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(2) 2 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TCCAGTTTCTGAAATTCTTCC 0.463 5 128 --- --- --- --- PASS SENP5 205564 broad.mit.edu 37 3 196626831 196626831 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr3:196626831G>T uc003fwz.3 + 4 1905 c.1656G>T c.(1654-1656)CGG>CGT p.R552R SENP5_uc011bty.1_Silent_p.R552R NM_152699 NP_689912 Q96HI0 SENP5_HUMAN SUMO1/sentrin specific peptidase 5 552 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) CAAACTATCGGGCCAGACATC 0.368 30 106 --- --- --- --- PASS TNIP2 79155 broad.mit.edu 37 4 2749604 2749604 + Silent SNP G C C rs143687899 TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:2749604G>C uc003gfg.2 - 2 432 c.345C>G c.(343-345)CCC>CCG p.P115P TNIP2_uc003gff.2_Silent_p.P8P|TNIP2_uc003gfh.2_Silent_p.P115P NM_024309 NP_077285 Q8NFZ5 TNIP2_HUMAN A20-binding inhibitor of NF-kappaB activation 2 115 Potential. cytosol protein binding central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCTCGTGTTGGGGCTGGCTCA 0.572 20 59 --- --- --- --- PASS CPEB2 132864 broad.mit.edu 37 4 15055755 15055755 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:15055755A>C uc003gni.1 + 7 1127 c.1040A>C c.(1039-1041)GAA>GCA p.E347A CPEB2_uc003gnj.1_Missense_Mutation_p.E317A|CPEB2_uc003gnk.1_Missense_Mutation_p.E355A|CPEB2_uc003gnl.1_Missense_Mutation_p.E328A|CPEB2_uc003gnm.1_Missense_Mutation_p.E325A|CPEB2_uc003gnn.1_Missense_Mutation_p.E320A NM_182485 NP_872291 Q7Z5Q1 CPEB2_HUMAN cytoplasmic polyadenylation element binding 347 RRM 1. regulation of translation cytoplasm nucleotide binding|RNA binding skin(1) 1 TCTTAAGATGAAATAACTGCT 0.323 4 126 --- --- --- --- PASS CCKAR 886 broad.mit.edu 37 4 26490935 26490935 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:26490935A>G uc003gse.1 - 2 437 c.284T>C c.(283-285)ATG>ACG p.M95T NM_000730 NP_000721 P32238 CCKAR_HUMAN cholecystokinin A receptor 95 Helical; Name=2; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity lung(3)|pancreas(1) 4 Breast(46;0.0503) Ceruletide(DB00403) GTTGAACGGCATGCAGAAGAG 0.547 19 80 --- --- --- --- PASS PTTG2 10744 broad.mit.edu 37 4 37962435 37962435 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:37962435G>T uc011bye.1 + 1 380 c.380G>T c.(379-381)AGT>ATT p.S127I TBC1D1_uc003gtb.2_Intron|TBC1D1_uc011byd.1_Intron|TBC1D1_uc010ifd.2_Intron NM_006607 NP_006598 Q9NZH5 PTTG2_HUMAN pituitary tumor-transforming 2 127 chromosome organization|DNA metabolic process cytoplasm|nucleus SH3 domain binding 0 GACTTTGAGAGTTTTGACCTG 0.453 26 87 --- --- --- --- PASS APBB2 323 broad.mit.edu 37 4 41016210 41016210 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:41016210G>A uc003gvl.2 - 6 855 c.225C>T c.(223-225)ATC>ATT p.I75I APBB2_uc003gvm.2_Silent_p.I75I|APBB2_uc003gvn.2_Silent_p.I75I|APBB2_uc011byt.1_Silent_p.I58I NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 75 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 TGGCCGCCTGGATGTTAGTTA 0.502 51 87 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46060551 46060551 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:46060551A>G uc003gxb.2 - 6 866 c.714T>C c.(712-714)TTT>TTC p.F238F NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 238 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CTACAAATGCAAACTGATATA 0.348 18 53 --- --- --- --- PASS PDCL2 132954 broad.mit.edu 37 4 56448400 56448400 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:56448400G>T uc003hbb.2 - 2 114 c.11C>A c.(10-12)CCC>CAC p.P4H NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN phosducin-like 2 4 0 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) ATCTTCATTGGGATCCTACAC 0.299 15 55 --- --- --- --- PASS PDCL2 132954 broad.mit.edu 37 4 56448401 56448401 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:56448401G>T uc003hbb.2 - 2 113 c.10C>A c.(10-12)CCC>ACC p.P4T NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN phosducin-like 2 4 0 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) TCTTCATTGGGATCCTACACA 0.299 15 55 --- --- --- --- PASS REST 5978 broad.mit.edu 37 4 57786007 57786007 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:57786007A>T uc003hch.2 + 3 1300 c.953A>T c.(952-954)CAT>CTT p.H318L REST_uc003hci.2_Missense_Mutation_p.H318L|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 318 C2H2-type 5. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) CAGAAGACTCATCTAACTAGA 0.323 3 96 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66356236 66356236 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:66356236G>T uc003hcy.2 - 5 1454 c.1261C>A c.(1261-1263)CTG>ATG p.L421M EPHA5_uc003hcx.2_Missense_Mutation_p.L352M|EPHA5_uc003hcz.2_Missense_Mutation_p.L421M|EPHA5_uc011cah.1_Missense_Mutation_p.L421M|EPHA5_uc011cai.1_Missense_Mutation_p.L421M|EPHA5_uc003hda.2_Missense_Mutation_p.L421M NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 421 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 GTGTTTTTCAGGCCGCTTTGC 0.507 TSP Lung(17;0.13) 53 54 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66356237 66356237 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:66356237G>T uc003hcy.2 - 5 1453 c.1260C>A c.(1258-1260)GGC>GGA p.G420G EPHA5_uc003hcx.2_Silent_p.G351G|EPHA5_uc003hcz.2_Silent_p.G420G|EPHA5_uc011cah.1_Silent_p.G420G|EPHA5_uc011cai.1_Silent_p.G420G|EPHA5_uc003hda.2_Silent_p.G420G NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 420 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGTTTTTCAGGCCGCTTTGCC 0.502 TSP Lung(17;0.13) 53 53 --- --- --- --- PASS UGT2B15 7366 broad.mit.edu 37 4 69535760 69535760 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:69535760A>C uc011cal.1 - 1 615 c.577T>G c.(577-579)TCC>GCC p.S193A NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 193 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 GGTACATAGGAAGGAGGGAAC 0.358 4 402 --- --- --- --- PASS WDFY3 23001 broad.mit.edu 37 4 85771053 85771053 + Splice_Site SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:85771053A>G uc003hpd.2 - 5 712 c.304_splice c.e5+1 p.E102_splice WDFY3_uc003hpf.2_Splice_Site_p.E102_splice NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CTGTAAAAATACCTGTGGATT 0.363 5 111 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114278132 114278132 + Silent SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:114278132T>A uc003ibe.3 + 38 8458 c.8358T>A c.(8356-8358)GCT>GCA p.A2786A ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Silent_p.A88A|ANK2_uc011cgb.1_Silent_p.A2801A NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2753 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GCAGCTCAGCTGCTCCTGTCT 0.463 42 23 --- --- --- --- PASS POU4F2 5458 broad.mit.edu 37 4 147561769 147561769 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:147561769C>T uc003ikv.2 + 2 1287 c.1039C>T c.(1039-1041)CGC>TGC p.R347C NM_004575 NP_004566 Q12837 PO4F2_HUMAN Brn3b POU domain transcription factor 347 Homeobox. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1) 1 all_hematologic(180;0.151) GGAGAAGAAGCGCAAGCGCAC 0.622 7 161 --- --- --- --- PASS FGA 2243 broad.mit.edu 37 4 155510606 155510606 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:155510606A>T uc003iod.1 - 2 221 c.163T>A c.(163-165)TGC>AGC p.C55S FGA_uc003ioe.1_Missense_Mutation_p.C55S|FGA_uc003iof.1_Missense_Mutation_p.C55S NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 55 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCATCAGAGCAGAAGGGCCAG 0.542 53 64 --- --- --- --- PASS VEGFC 7424 broad.mit.edu 37 4 177649017 177649017 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:177649017C>A uc003ius.1 - 3 897 c.467G>T c.(466-468)TGT>TTT p.C156F NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 156 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GACGGACACACATGGAGGTTT 0.517 39 50 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183675813 183675813 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr4:183675813G>T uc003ivd.1 + 21 4330 c.4293G>T c.(4291-4293)CAG>CAT p.Q1431H ODZ3_uc003ive.1_Missense_Mutation_p.Q844H NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1431 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGATAAGGCAGGTCACAACAG 0.468 5 37 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1409227 1409227 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:1409227A>T uc003jck.2 - 11 1533 c.1412T>A c.(1411-1413)GTC>GAC p.V471D NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 471 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GAGCGTGAAGACGTAGATGCC 0.572 3 38 --- --- --- --- PASS C5orf49 134121 broad.mit.edu 37 5 7832066 7832066 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:7832066T>A uc003jea.3 - 3 471 c.341A>T c.(340-342)AAC>ATC p.N114I NM_001089584 NP_001083053 A4QMS7 CE049_HUMAN hypothetical protein LOC134121 114 0 AAAGTCCCGGTTTAGGGGCTC 0.547 11 327 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31511217 31511217 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:31511217C>A uc003jhg.2 - 8 1716 c.1357G>T c.(1357-1359)GGG>TGG p.G453W RNASEN_uc003jhh.2_Missense_Mutation_p.G416W|RNASEN_uc003jhi.2_Missense_Mutation_p.G416W|RNASEN_uc010iui.1_Missense_Mutation_p.G376W NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 453 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TGCCTGCTCCCCAACTCCTCC 0.448 59 69 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32000253 32000253 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:32000253G>T uc003jhl.2 + 5 1518 c.1130G>T c.(1129-1131)AGG>ATG p.R377M PDZD2_uc003jhm.2_Missense_Mutation_p.R377M|PDZD2_uc011cnx.1_Missense_Mutation_p.R203M NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 377 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 AGGGATGGCAGGCTGTCCTTA 0.547 21 48 --- --- --- --- PASS PDZD2 23037 broad.mit.edu 37 5 32059445 32059445 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:32059445G>C uc003jhl.2 + 13 2689 c.2301G>C c.(2299-2301)AAG>AAC p.K767N PDZD2_uc003jhm.2_Missense_Mutation_p.K767N|PDZD2_uc011cnx.1_Missense_Mutation_p.K593N NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 767 PDZ 4. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 CAGTGGCCAAGATGGAGAGCA 0.448 6 82 --- --- --- --- PASS RANBP3L 202151 broad.mit.edu 37 5 36249793 36249793 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:36249793G>A uc003jkh.2 - 14 1854 c.1361C>T c.(1360-1362)TCT>TTT p.S454F RANBP3L_uc011cow.1_Missense_Mutation_p.S479F NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 454 intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) AGTCCAACTAGAAGGATCTGT 0.284 4 108 --- --- --- --- PASS RPL37 6167 broad.mit.edu 37 5 40834286 40834286 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:40834286A>G uc003jme.1 - 3 321 c.221T>C c.(220-222)TTC>TCC p.F74S SNORD72_uc003jmf.1_5'Flank NM_000997 NP_000988 P61927 RL37_HUMAN ribosomal protein L37 74 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit metal ion binding|protein binding|rRNA binding|structural constituent of ribosome 0 Breast(839;0.238) ACTGTACCTGAATCTGCGGTA 0.408 5 114 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41199881 41199881 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:41199881C>G uc003jmk.2 - 4 644 c.434G>C c.(433-435)CGC>CCC p.R145P C6_uc003jml.1_Missense_Mutation_p.R145P NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 145 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ACTGTCACAGCGAAATTTATT 0.413 34 105 --- --- --- --- PASS EMB 133418 broad.mit.edu 37 5 49699253 49699253 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:49699253G>C uc003jom.2 - 6 885 c.636C>G c.(634-636)ATC>ATG p.I212M EMB_uc010ivq.2_Missense_Mutation_p.I6M|EMB_uc003jol.2_Missense_Mutation_p.I143M|EMB_uc011cpy.1_Missense_Mutation_p.I162M|EMB_uc010ivr.2_Missense_Mutation_p.I158M NM_198449 NP_940851 Q6PCB8 EMB_HUMAN embigin precursor 212 Extracellular (Potential).|Ig-like V-type 2. integral to membrane 0 Lung SC(58;0.218) Lung NSC(810;0.0795) ATGTTCCATTGATCACATATT 0.363 3 76 --- --- --- --- PASS IPO11 51194 broad.mit.edu 37 5 61778973 61778973 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:61778973A>G uc003jtc.2 + 10 1064 c.874A>G c.(874-876)ATT>GTT p.I292V IPO11_uc011cqr.1_Missense_Mutation_p.I332V|IPO11_uc003jtb.1_Missense_Mutation_p.I292V NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 292 cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TACTCCTCTAATTCAGAGATC 0.299 8 75 --- --- --- --- PASS IPO11 51194 broad.mit.edu 37 5 61802105 61802105 + Missense_Mutation SNP T G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:61802105T>G uc003jtc.2 + 19 1893 c.1703T>G c.(1702-1704)CTG>CGG p.L568R IPO11_uc011cqr.1_Missense_Mutation_p.L608R|IPO11_uc003jtd.1_RNA NM_016338 NP_057422 Q9UI26 IPO11_HUMAN Ran binding protein 11 isoform 2 568 HEAT 7. cytoplasm|nucleus protein binding lung(2)|skin(2) 4 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) TTTCAGTTACTGCAGCAAGTT 0.328 12 66 --- --- --- --- PASS F2RL1 2150 broad.mit.edu 37 5 76129526 76129526 + Missense_Mutation SNP G A A rs149001132 TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:76129526G>A uc003keo.2 + 2 1269 c.1094G>A c.(1093-1095)CGC>CAC p.R365H NM_005242 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 365 Cytoplasmic (Potential). blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity central_nervous_system(1) 1 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) CGAAGTGTCCGCACTGTAAAG 0.448 13 234 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82817981 82817981 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:82817981C>T uc003kii.3 + 7 4212 c.3856C>T c.(3856-3858)CCT>TCT p.P1286S VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.P1286S|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1286 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTCAAGTCCTCCTGCTACACA 0.473 4 87 --- --- --- --- PASS SLCO6A1 133482 broad.mit.edu 37 5 101834440 101834440 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:101834440C>T uc003knn.2 - 1 281 c.109G>A c.(109-111)GGA>AGA p.G37R SLCO6A1_uc003kno.2_Missense_Mutation_p.G37R|SLCO6A1_uc003knp.2_Missense_Mutation_p.G37R|SLCO6A1_uc003knq.2_Missense_Mutation_p.G37R NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 37 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) TTCGGGGTTCCCTTGGCCCTC 0.602 112 164 --- --- --- --- PASS CEP120 153241 broad.mit.edu 37 5 122708355 122708355 + Missense_Mutation SNP T G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:122708355T>G uc003ktk.2 - 18 2552 c.2470A>C c.(2470-2472)ACC>CCC p.T824P CEP120_uc011cwq.1_Missense_Mutation_p.T633P NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 824 Potential. centrosome ovary(1) 1 TTTTCCAAGGTGAGAAGATTT 0.299 32 54 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128844873 128844873 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:128844873C>T uc003kvb.1 + 3 833 c.833C>T c.(832-834)TCC>TTC p.S278F ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 278 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CAGAAAAGGTCCATGGAGGAA 0.398 9 63 --- --- --- --- PASS PCDHA12 56137 broad.mit.edu 37 5 140257180 140257180 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:140257180C>A uc003lic.2 + 1 2250 c.2123C>A c.(2122-2124)TCC>TAC p.S708Y 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_uc011daf.1_Missense_Mutation_p.S708Y NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 708 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTGCGGTGTCCAGCCTGCTG 0.667 18 23 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140553393 140553393 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:140553393G>A uc003lit.2 + 1 1151 c.977G>A c.(976-978)GGG>GAG p.G326E NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 326 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGGCGGCGGGCTTTCTGGA 0.433 31 35 --- --- --- --- PASS PCDHGA3 56112 broad.mit.edu 37 5 140723680 140723680 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:140723680G>C uc003ljm.1 + 1 80 c.80G>C c.(79-81)GGA>GCA p.G27A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.G27A NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 27 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCGAAACAGGATCCGGTCAG 0.582 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 82 94 --- --- --- --- PASS PCDHGA11 56105 broad.mit.edu 37 5 140802625 140802625 + Nonsense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:140802625A>T uc003lkq.1 + 1 2089 c.1831A>T c.(1831-1833)AAG>TAG p.K611* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Nonsense_Mutation_p.K611*|PCDHGA11_uc003lkp.1_Nonsense_Mutation_p.K611* NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 611 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGCCTGCTTAAGGCCAGCGA 0.662 35 42 --- --- --- --- PASS CCNJL 79616 broad.mit.edu 37 5 159680516 159680516 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:159680516C>T uc003lyb.1 - 7 1429 c.1177G>A c.(1177-1179)GTG>ATG p.V393M CCNJL_uc011dee.1_Missense_Mutation_p.V345M|CCNJL_uc003lyc.1_RNA NM_024565 NP_078841 Q8IV13 CCNJL_HUMAN cyclin J-like 393 nucleus 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGACGGGCACGGGACACATA 0.622 7 90 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169081483 169081483 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr5:169081483G>T uc003maf.2 + 2 200 c.120G>T c.(118-120)ACG>ACT p.T40T DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 40 SH3. 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) TACAGGAGACGTGTGGAGGTG 0.582 39 39 --- --- --- --- PASS C6orf195 154386 broad.mit.edu 37 6 2623807 2623807 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:2623807C>A uc003mtw.2 - 3 1235 c.250G>T c.(250-252)GCC>TCC p.A84S NM_152554 NP_689767 Q96MT4 CF195_HUMAN hypothetical protein LOC154386 84 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) ATGCTCCAGGCCTGACAGCAA 0.597 43 40 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7583049 7583049 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:7583049C>T uc003mxp.1 + 24 5833 c.5554C>T c.(5554-5556)CGC>TGC p.R1852C DSP_uc003mxq.1_Missense_Mutation_p.R1253C NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1852 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GGTGAAACAGCGCCTGGAGTG 0.478 11 118 --- --- --- --- PASS SLC17A3 10786 broad.mit.edu 37 6 25851025 25851025 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:25851025A>T uc003nfi.3 - 6 669 c.559T>A c.(559-561)TCA>ACA p.S187T SLC17A3_uc003nfk.3_Missense_Mutation_p.S265T|SLC17A3_uc011djz.1_Missense_Mutation_p.S265T|SLC17A3_uc011dka.1_Missense_Mutation_p.S187T NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 187 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 TCTTTTTCTGAGGTGCTTATC 0.413 49 56 --- --- --- --- PASS HIST1H2BN 8341 broad.mit.edu 37 6 27806769 27806769 + Silent SNP C T T rs144906486 byFrequency TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:27806769C>T uc003njv.2 + 1 330 c.330C>T c.(328-330)CAC>CAT p.H110H HIST1H2AK_uc003njs.2_5'Flank|HIST1H2BN_uc003njt.1_RNA|HIST1H2BN_uc003nju.1_Silent_p.H110H NM_003520 NP_003511 Q99877 H2B1N_HUMAN histone cluster 1, H2bn 110 nucleosome assembly nucleosome|nucleus DNA binding 0 TGGCCAAGCACGCGGTGTCGG 0.662 57 40 --- --- --- --- PASS GNL1 2794 broad.mit.edu 37 6 30514615 30514615 + Splice_Site SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:30514615T>A uc003nqh.2 - 11 2470 c.1442_splice c.e11-1 p.A481_splice GNL1_uc011dmi.1_Splice_Site_p.A278_splice|GNL1_uc011dmj.1_Splice_Site_p.A479_splice|GNL1_uc011dmk.1_Splice_Site_p.A136_splice NM_005275 NP_005266 P36915 GNL1_HUMAN guanine nucleotide binding protein-like 1 response to DNA damage stimulus|signal transduction|T cell mediated immunity extracellular space|intracellular GTP binding|structural molecule activity ovary(3) 3 CTGCCCAGGCTGGAGGAAGAA 0.517 43 38 --- --- --- --- PASS STK19 8859 broad.mit.edu 37 6 31948524 31948524 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:31948524G>A uc003nyv.2 + 7 1135 c.1007G>A c.(1006-1008)CGG>CAG p.R336Q STK19_uc003nyt.2_Missense_Mutation_p.R289Q|STK19_uc011dox.1_Missense_Mutation_p.R293Q|STK19_uc003nyw.2_Missense_Mutation_p.R332Q|STK19_uc010jtn.1_RNA|C4A_uc011doy.1_5'Flank|C4A_uc011doz.1_5'Flank|C4A_uc011dpa.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN serine/threonine kinase 19 isoform 2 336 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(4) 4 GTCGTGGTGCGGCTTGGCCTC 0.617 4 64 --- --- --- --- PASS CRISP2 7180 broad.mit.edu 37 6 49668381 49668381 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:49668381C>A uc003ozq.2 - 5 439 c.183G>T c.(181-183)ATG>ATT p.M61I CRISP2_uc003ozl.2_Missense_Mutation_p.M61I|CRISP2_uc003ozn.2_Missense_Mutation_p.M61I|CRISP2_uc003ozr.2_Missense_Mutation_p.M61I|CRISP2_uc003ozo.2_Missense_Mutation_p.M61I|CRISP2_uc003ozm.2_Missense_Mutation_p.M61I|CRISP2_uc003ozp.2_Missense_Mutation_p.M61I NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 61 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TGCCTCTTACCATCTTTAGCA 0.458 8 58 --- --- --- --- PASS BMP5 653 broad.mit.edu 37 6 55625317 55625317 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:55625317C>T uc003pcq.2 - 5 1754 c.1042G>A c.(1042-1044)GAG>AAG p.E348K BMP5_uc011dxf.1_Missense_Mutation_p.E348K NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 348 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) TGTTTTTGCTCACTTGTGTTA 0.363 31 43 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97679345 97679345 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:97679345T>C uc003ppb.2 - 13 1752 c.1486A>G c.(1486-1488)ATG>GTG p.M496V C6orf167_uc011eaf.1_Missense_Mutation_p.M456V|C6orf167_uc010kcn.1_Missense_Mutation_p.M270V NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 496 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) TTGCTCTTCATTGCTTTTTTA 0.368 26 34 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102483400 102483400 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:102483400G>T uc003pqp.3 + 14 2519 c.2270G>T c.(2269-2271)GGC>GTC p.G757V GRIK2_uc003pqo.3_Missense_Mutation_p.G757V|GRIK2_uc010kcw.2_Missense_Mutation_p.G757V NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 757 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CAGATTGGCGGCCTTATAGAC 0.458 76 159 --- --- --- --- PASS CDC40 51362 broad.mit.edu 37 6 110551303 110551303 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:110551303G>T uc003pua.2 + 15 1733 c.1709G>T c.(1708-1710)GGT>GTT p.G570V NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 570 WD 7. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) ATAACATGTGGTTGGGATGGT 0.338 36 51 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112430732 112430732 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:112430732G>A uc003pvu.2 - 39 5689 c.5380C>T c.(5380-5382)CGC>TGC p.R1794C LAMA4_uc003pvv.2_Missense_Mutation_p.R1787C|LAMA4_uc003pvt.2_Missense_Mutation_p.R1787C NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1794 Laminin G-like 5. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding p.R1787C(1) ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ACAAAGTGGCGTATGCAGCCT 0.502 36 68 --- --- --- --- PASS ROS1 6098 broad.mit.edu 37 6 117709004 117709004 + Silent SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:117709004T>A uc003pxp.1 - 13 2152 c.1953A>T c.(1951-1953)GCA>GCT p.A651A ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 651 Fibronectin type-III 3.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTGGAGAACTTGCTCTCACAG 0.483 T GOPC|ROS1 glioblastoma|NSCLC 90 140 --- --- --- --- PASS RSPO3 84870 broad.mit.edu 37 6 127476525 127476525 + Silent SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:127476525A>T uc003qar.2 + 4 866 c.576A>T c.(574-576)CCA>CCT p.P192P RSPO3_uc003qas.1_Silent_p.P192P NM_032784 NP_116173 Q9BXY4 RSPO3_HUMAN R-spondin 3 precursor 192 TSP type-1. extracellular region heparin binding 0 GBM - Glioblastoma multiforme(226;0.0555) TGTGTCCCCCAACAAATGAGA 0.428 15 47 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132891742 132891742 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:132891742G>A uc011eck.1 + 1 282 c.282G>A c.(280-282)GTG>GTA p.V94V NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 94 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCAGGACGGTGGAGAGCTGCT 0.502 37 108 --- --- --- --- PASS AHI1 54806 broad.mit.edu 37 6 135611618 135611618 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:135611618T>C uc003qgi.2 - 28 3915 c.3531A>G c.(3529-3531)ATA>ATG p.I1177M AHI1_uc003qgf.2_RNA|AHI1_uc003qgg.2_Intron|AHI1_uc003qgh.2_Missense_Mutation_p.I1177M|AHI1_uc003qgj.2_Missense_Mutation_p.I1177M NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 1177 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) GTGTATCCATTATGTGTCCTT 0.234 161 234 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152629688 152629688 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:152629688A>G uc010kiw.2 - 91 17884 c.17282T>C c.(17281-17283)ATT>ACT p.I5761T SYNE1_uc010kiv.2_Missense_Mutation_p.I285T|SYNE1_uc003qos.3_Missense_Mutation_p.I285T|SYNE1_uc003qot.3_Missense_Mutation_p.I5690T|SYNE1_uc003qou.3_Missense_Mutation_p.I5761T NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5761 Cytoplasmic (Potential).|Spectrin 19. 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) TTTATCCTCAATCTCTCTGTG 0.428 HNSCC(10;0.0054) 5 131 --- --- --- --- PASS CNKSR3 154043 broad.mit.edu 37 6 154727502 154727502 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:154727502G>T uc003qpy.2 - 13 2159 c.1654C>A c.(1654-1656)CTG>ATG p.L552M NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 552 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) TGAGTCAACAGTTTGAGGCGC 0.562 3 32 --- --- --- --- PASS SERAC1 84947 broad.mit.edu 37 6 158538849 158538849 + Nonsense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:158538849C>T uc003qrc.2 - 13 1455 c.1313G>A c.(1312-1314)TGG>TAG p.W438* SERAC1_uc003qrb.2_Nonsense_Mutation_p.W166* NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 438 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) TTTTGCTAACCATGTCTAAGT 0.413 6 79 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166572067 166572067 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:166572067G>T uc003quu.1 - 9 1537 c.1044C>A c.(1042-1044)CCC>CCA p.P348P T_uc003qut.1_Silent_p.P349P|T_uc003quv.1_Silent_p.P290P NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 348 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) ACCACAGGCTGGGGTACTGAC 0.652 Chordoma_Familial_Clustering_of 5 8 --- --- --- --- PASS T 6862 broad.mit.edu 37 6 166572068 166572068 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr6:166572068G>A uc003quu.1 - 9 1536 c.1043C>T c.(1042-1044)CCC>CTC p.P348L T_uc003qut.1_Missense_Mutation_p.P349L|T_uc003quv.1_Missense_Mutation_p.P290L NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 348 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CCACAGGCTGGGGTACTGACT 0.652 Chordoma_Familial_Clustering_of 4 9 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1526289 1526289 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:1526289T>A uc003skn.2 - 22 3049 c.2948A>T c.(2947-2949)CAG>CTG p.Q983L INTS1_uc003skp.1_Missense_Mutation_p.Q330L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 983 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) GGAGGCCACCTGGGAGGAGCC 0.597 3 6 --- --- --- --- PASS TMEM184A 202915 broad.mit.edu 37 7 1587401 1587401 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:1587401G>C uc003skv.3 - 8 1306 c.989C>G c.(988-990)GCA>GGA p.A330G TMEM184A_uc003skt.3_Missense_Mutation_p.A309G|TMEM184A_uc003skw.3_Missense_Mutation_p.A135G NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 330 integral to membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CTTCTTCTCTGCGTACACCTG 0.642 3 23 --- --- --- --- PASS GGCT 79017 broad.mit.edu 37 7 30538534 30538534 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:30538534C>G uc003tba.2 - 3 435 c.308G>C c.(307-309)GGA>GCA p.G103A GGCT_uc003tbb.2_Intron|GGCT_uc003tbc.2_RNA|GGCT_uc003taz.2_Missense_Mutation_p.G42A NM_024051 NP_076956 O75223 GGCT_HUMAN gamma-glutamyl cyclotransferase 103 release of cytochrome c from mitochondria cytosol acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity 0 AACATACATTCCACTTTTAAC 0.378 58 64 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38433815 38433815 + Splice_Site SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:38433815C>G uc003tgu.2 - 18 1468 c.1399_splice c.e18-1 p.I467_splice AMPH_uc003tgv.2_Splice_Site_p.I425_splice|AMPH_uc003tgt.2_Splice_Site_p.I352_splice|AMPH_uc003tgw.1_Splice_Site_p.I490_splice|AMPH_uc010kxl.1_Splice_Site NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 CAGGTATGATCTGCAGGGCAG 0.577 37 40 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45632493 45632493 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:45632493G>A uc003tne.3 + 2 793 c.775G>A c.(775-777)GAG>AAG p.E259K ADCY1_uc003tnd.2_Missense_Mutation_p.E34K NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 259 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GCTGGAGGATGAGAACGAGAA 0.592 24 37 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45725678 45725678 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:45725678C>G uc003tne.3 + 13 2209 c.2191C>G c.(2191-2193)CTG>GTG p.L731V NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 731 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACACCATGCCCTGCTCTGCTG 0.627 7 39 --- --- --- --- PASS POM121L12 285877 broad.mit.edu 37 7 53103760 53103760 + Silent SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:53103760G>C uc003tpz.2 + 1 412 c.396G>C c.(394-396)CGG>CGC p.R132R NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 132 0 ACCCAGGACGGACCTGGAGCC 0.602 6 55 --- --- --- --- PASS ELN 2006 broad.mit.edu 37 7 73474266 73474266 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:73474266G>A uc003tzw.2 + 23 1574 c.1483G>A c.(1483-1485)GTC>ATC p.V495I RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.V489I|ELN_uc003tzz.2_Missense_Mutation_p.V408I|ELN_uc003tzo.2_Missense_Mutation_p.V456I|ELN_uc003tzp.2_Missense_Mutation_p.V400I|ELN_uc003tzq.2_Missense_Mutation_p.V353I|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.V470I|ELN_uc003tzt.2_Missense_Mutation_p.V494I|ELN_uc003tzu.2_Missense_Mutation_p.V475I|ELN_uc003tzv.2_Missense_Mutation_p.V460I|ELN_uc003tzx.2_Missense_Mutation_p.V479I|ELN_uc011kff.1_Missense_Mutation_p.V489I|ELN_uc003tzy.2_Missense_Mutation_p.V465I NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 518 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) GGCTCCTGGTGTCGGTGTGGC 0.572 T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 25 245 --- --- --- --- PASS SEMA3A 10371 broad.mit.edu 37 7 83610772 83610772 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:83610772G>T uc003uhz.2 - 14 1832 c.1517C>A c.(1516-1518)ACG>AAG p.T506K NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 506 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 AACCCCAGCCGTTGAACCAAT 0.438 6 32 --- --- --- --- PASS CROT 54677 broad.mit.edu 37 7 86991136 86991136 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:86991136C>T uc003uit.2 + 6 760 c.515C>T c.(514-516)ACT>ATT p.T172I CROT_uc003uiu.2_Missense_Mutation_p.T200I NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 172 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) CCAGGAATTACTAGAGACTCC 0.348 15 189 --- --- --- --- PASS DLX5 1749 broad.mit.edu 37 7 96650095 96650095 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:96650095C>A uc003uon.2 - 3 1031 c.823G>T c.(823-825)GGC>TGC p.G275C NM_005221 NP_005212 P56178 DLX5_HUMAN distal-less homeobox 5 275 cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) TGTAAGGAGCCCGGCGGCGGC 0.572 18 55 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100693916 100693916 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:100693916G>T uc003uxp.1 + 7 12927 c.12874G>T c.(12874-12876)GAC>TAC p.D4292Y MUC17_uc010lho.1_Intron NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4292 Extracellular (Potential).|SEA. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TATTTGCTCAGGTGAACTCTG 0.458 9 31 --- --- --- --- PASS TMEM168 64418 broad.mit.edu 37 7 112413056 112413056 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:112413056C>G uc003vgn.2 - 4 1718 c.1326G>C c.(1324-1326)TTG>TTC p.L442F TMEM168_uc010lju.2_Missense_Mutation_p.L442F|TMEM168_uc011kmr.1_Missense_Mutation_p.L58F NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 442 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 CAGTAGACCTCAAATTTAACT 0.393 4 84 --- --- --- --- PASS FOXP2 93986 broad.mit.edu 37 7 114299649 114299649 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:114299649G>A uc003vhb.2 + 13 1942 c.1568G>A c.(1567-1569)AGG>AAG p.R523K FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.R548K|FOXP2_uc003vha.2_Missense_Mutation_p.R431K|FOXP2_uc011kmu.1_Missense_Mutation_p.R540K|FOXP2_uc011kmv.1_Missense_Mutation_p.R522K|FOXP2_uc010ljz.1_Missense_Mutation_p.R338K|FOXP2_uc003vhe.1_Missense_Mutation_p.R93K NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 523 Fork-head. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TCATCTGACAGGCAGTTAACA 0.388 30 102 --- --- --- --- PASS OPN1SW 611 broad.mit.edu 37 7 128415785 128415785 + Silent SNP C T T rs150585695 byFrequency TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:128415785C>T uc003vnt.3 - 1 60 c.60G>A c.(58-60)CCG>CCA p.P20P NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 20 Extracellular (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 GCCCATCCCACGGCCCCACTG 0.517 6 129 --- --- --- --- PASS MGAM 8972 broad.mit.edu 37 7 141758051 141758051 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:141758051C>T uc003vwy.2 + 31 3796 c.3742C>T c.(3742-3744)CTG>TTG p.L1248L NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1248 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GGGGTTCCAGCTGTGTCGCTA 0.478 19 372 --- --- --- --- PASS FAM115A 9747 broad.mit.edu 37 7 143573132 143573132 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:143573132C>T uc003wdo.1 - 2 703 c.570G>A c.(568-570)ACG>ACA p.T190T FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Silent_p.T190T NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 190 0 Melanoma(164;0.0903) TAAAGAAACTCGTGTCCCCTT 0.517 9 48 --- --- --- --- PASS MLL3 58508 broad.mit.edu 37 7 151874635 151874635 + Nonsense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:151874635G>A uc003wla.2 - 38 8122 c.7903C>T c.(7903-7905)CAA>TAA p.Q2635* MLL3_uc003wkz.2_Nonsense_Mutation_p.Q1696*|MLL3_uc003wky.2_Nonsense_Mutation_p.Q144* NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2635 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) GAATGACCTTGCTCTTGTTGA 0.498 N medulloblastoma 62 108 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154672636 154672636 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr7:154672636T>A uc003wlk.2 + 21 2246 c.2117T>A c.(2116-2118)GTG>GAG p.V706E DPP6_uc003wli.2_Missense_Mutation_p.V642E|DPP6_uc003wlm.2_Missense_Mutation_p.V644E|DPP6_uc011kvq.1_Missense_Mutation_p.V599E NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 706 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) AGGACGCGCGTGGCCGTGTTT 0.552 10 79 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10464570 10464570 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:10464570T>A uc003wtc.2 - 4 7267 c.7038A>T c.(7036-7038)GAA>GAT p.E2346D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2346 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) AAGTAGAACTTTCTGGGTACA 0.547 36 127 --- --- --- --- PASS EXTL3 2137 broad.mit.edu 37 8 28608235 28608235 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:28608235C>T uc003xgz.1 + 7 3205 c.2612C>T c.(2611-2613)TCC>TTC p.S871F NM_001440 NP_001431 O43909 EXTL3_HUMAN exostoses-like 3 871 Lumenal (Potential). integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding skin(2) 2 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CATGATGACTCCCACTTCCAC 0.567 39 106 --- --- --- --- PASS DUSP4 1846 broad.mit.edu 37 8 29207707 29207707 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:29207707C>T uc003xhm.2 - 1 479 c.89G>A c.(88-90)GGC>GAC p.G30D DUSP4_uc003xhl.2_5'Flank NM_001394 NP_001385 Q13115 DUS4_HUMAN dual specificity phosphatase 4 isoform 1 30 endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity lung(1) 1 KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113) GCTGCCGCTGCCGCCCGCGCC 0.682 5 4 --- --- --- --- PASS TEX15 56154 broad.mit.edu 37 8 30701206 30701206 + Missense_Mutation SNP T G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:30701206T>G uc003xil.2 - 1 5328 c.5328A>C c.(5326-5328)GAA>GAC p.E1776D NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1776 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ATGAATTCTTTTCCCTTTTTG 0.328 24 26 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37699818 37699818 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:37699818T>A uc003xkj.2 + 19 4325 c.3962T>A c.(3961-3963)GTA>GAA p.V1321E GPR124_uc010lvy.2_Missense_Mutation_p.V1104E NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 1321 Cytoplasmic (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGCGCGGAGGTAGCCAGCGGC 0.677 2 3 --- --- --- --- PASS CHRNB3 1142 broad.mit.edu 37 8 42587227 42587227 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:42587227G>A uc003xpi.1 + 5 905 c.777G>A c.(775-777)TCG>TCA p.S259S NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 259 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) ATTTACCTTCGGATGAAGGAG 0.433 4 111 --- --- --- --- PASS POTEA 340441 broad.mit.edu 37 8 43157238 43157238 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:43157238C>G uc003xpz.1 + 5 861 c.818C>G c.(817-819)TCT>TGT p.S273C POTEA_uc003xqa.1_Intron NM_001005365 NP_001005365 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A isoform 2 273 ovary(1) 1 TATGCAGTTTCTAGTCATCAT 0.299 7 115 --- --- --- --- PASS RB1CC1 9821 broad.mit.edu 37 8 53569508 53569508 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:53569508C>T uc003xre.3 - 15 3439 c.2881G>A c.(2881-2883)GAC>AAC p.D961N RB1CC1_uc003xrf.3_Missense_Mutation_p.D961N NM_014781 NP_055596 Q8TDY2 RBCC1_HUMAN Rb1-inducible coiled coil protein 1 isoform 1 961 Potential. autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 11 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TTTTTTAAGTCTTCTAACACT 0.353 4 133 --- --- --- --- PASS PLAG1 5324 broad.mit.edu 37 8 57078946 57078946 + Silent SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:57078946A>T uc003xsq.3 - 3 1810 c.1359T>A c.(1357-1359)GTT>GTA p.V453V PLAG1_uc003xsr.3_Silent_p.V453V|PLAG1_uc010lyi.2_Silent_p.V453V|PLAG1_uc010lyj.2_Silent_p.V371V NM_001114635 NP_001108107 Q6DJT9 PLAG1_HUMAN pleiomorphic adenoma gene 1 isoform b 453 Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CTNNB1/PLAG1(60)|FGFR1_ENST00000447712/PLAG1(28)|CHCHD7/PLAG1(12)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|COL1A2/PLAG1(3)|TCEA1_ENST00000521604/PLAG1(3) salivary_gland(113)|soft_tissue(13)|lung(1)|central_nervous_system(1)|breast(1) 129 all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125) Epithelial(17;0.00179)|all cancers(17;0.0125) GGAGCTGGGAAACAGAAGAAT 0.463 T TCEA1|LIFR|CTNNB1|CHCHD7 salivary adenoma 16 131 --- --- --- --- PASS SULF1 23213 broad.mit.edu 37 8 70541814 70541814 + Missense_Mutation SNP G T T rs140600931 TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:70541814G>T uc010lza.1 + 19 2901 c.2184G>T c.(2182-2184)AAG>AAT p.K728N SULF1_uc003xyd.2_Missense_Mutation_p.K728N|SULF1_uc003xye.2_Missense_Mutation_p.K728N|SULF1_uc003xyf.2_Missense_Mutation_p.K728N|SULF1_uc003xyg.2_Missense_Mutation_p.K728N|SULF1_uc003xyh.1_RNA|SULF1_uc003xyi.1_Translation_Start_Site NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 728 K -> R (in Ref. 4; BAC11258). apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) AGGAGAGGAAGGAGAAGAGAC 0.527 29 79 --- --- --- --- PASS TRPA1 8989 broad.mit.edu 37 8 72951117 72951117 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:72951117C>T uc003xza.2 - 19 2453 c.2278G>A c.(2278-2280)GAA>AAA p.E760K uc011lff.1_Intron|uc003xyy.2_Intron NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 760 Extracellular (Potential). integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) TCTAGTATTTCTGAATGATCA 0.303 18 62 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89209517 89209517 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:89209517C>A uc003yeb.3 - 2 433 c.151G>T c.(151-153)GGC>TGC p.G51C MMP16_uc003yec.2_Missense_Mutation_p.G51C NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 51 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 GGAAGGTAGCCGTACTTTTGT 0.393 16 43 --- --- --- --- PASS MTERFD1 51001 broad.mit.edu 37 8 97269295 97269295 + Nonsense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:97269295C>A uc003yhs.1 - 3 460 c.382G>T c.(382-384)GAA>TAA p.E128* MTERFD1_uc003yhr.1_Nonsense_Mutation_p.E7*|MTERFD1_uc010mbd.1_Nonsense_Mutation_p.E128* NM_015942 NP_057026 Q96E29 MTER1_HUMAN MTERF domain containing 1 precursor 128 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding ovary(1) 1 Breast(36;5.16e-05) ATAGCCTCTTCCTCTGAAATT 0.408 31 46 --- --- --- --- PASS LAPTM4B 55353 broad.mit.edu 37 8 98787974 98787974 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:98787974C>T uc003yia.2 + 1 166 c.10C>T c.(10-12)CGG>TGG p.R4W LAPTM4B_uc010mbg.2_Missense_Mutation_p.R4W NM_018407 NP_060877 Q86VI4 LAP4B_HUMAN lysosomal associated transmembrane protein 4 57 transport endomembrane system|integral to membrane protein binding skin(1) 1 Breast(36;1.59e-06) OV - Ovarian serous cystadenocarcinoma(57;0.149) GATGACGTCACGGACTCGGGT 0.697 6 25 --- --- --- --- PASS SYBU 55638 broad.mit.edu 37 8 110592214 110592214 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:110592214C>T uc003ynj.3 - 5 711 c.548G>A c.(547-549)CGG>CAG p.R183Q SYBU_uc003yni.3_Missense_Mutation_p.R180Q|SYBU_uc003ynk.3_Missense_Mutation_p.R64Q|SYBU_uc010mco.2_Missense_Mutation_p.R182Q|SYBU_uc003ynl.3_Missense_Mutation_p.R182Q|SYBU_uc010mcp.2_Missense_Mutation_p.R183Q|SYBU_uc010mcq.2_Missense_Mutation_p.R183Q|SYBU_uc003yno.3_Missense_Mutation_p.R64Q|SYBU_uc010mcr.2_Missense_Mutation_p.R183Q|SYBU_uc003ynm.3_Missense_Mutation_p.R182Q|SYBU_uc003ynn.3_Missense_Mutation_p.R182Q|SYBU_uc010mcs.2_Missense_Mutation_p.R64Q|SYBU_uc010mct.2_Missense_Mutation_p.R183Q|SYBU_uc010mcu.2_Missense_Mutation_p.R182Q|SYBU_uc003ynp.3_Missense_Mutation_p.R115Q|SYBU_uc010mcv.2_Missense_Mutation_p.R183Q|SYBU_uc003ynh.3_5'UTR|SYBU_uc011lhw.1_Missense_Mutation_p.R53Q NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 183 Sufficient for interaction with KIF5B.|Ser-rich. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 TCCATTACTCCGCCCATGAGG 0.507 11 294 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113395805 113395805 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:113395805T>A uc003ynu.2 - 37 6181 c.6022A>T c.(6022-6024)AGC>TGC p.S2008C CSMD3_uc003yns.2_Missense_Mutation_p.S1210C|CSMD3_uc003ynt.2_Missense_Mutation_p.S1968C|CSMD3_uc011lhx.1_Missense_Mutation_p.S1904C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2008 Extracellular (Potential).|CUB 11. 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 CCTGAATAGCTTCCAAGTCTT 0.333 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 52 --- --- --- --- PASS NOV 4856 broad.mit.edu 37 8 120429198 120429198 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:120429198G>C uc003yoq.2 + 2 520 c.299G>C c.(298-300)GGC>GCC p.G100A NM_002514 NP_002505 P48745 NOV_HUMAN nephroblastoma overexpressed precursor 100 IGFBP N-terminal. regulation of cell growth growth factor activity|insulin-like growth factor binding ovary(2)|skin(2)|kidney(1) 5 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AACCAGACTGGCATCTGCACG 0.587 OREG0018940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 29 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120756528 120756528 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:120756528C>A uc003you.2 - 24 3484 c.3214G>T c.(3214-3216)GGG>TGG p.G1072W NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 1072 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) CTAATCTTACCTGGAGTTGAC 0.378 26 117 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120801883 120801883 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:120801883G>A uc003you.2 - 12 1787 c.1517C>T c.(1516-1518)TCC>TTC p.S506F NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 506 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATTTGAAATGGATTTCAAAAA 0.403 6 125 --- --- --- --- PASS ASAP1 50807 broad.mit.edu 37 8 131136311 131136311 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:131136311T>C uc003yta.1 - 17 1583 c.1555A>G c.(1555-1557)ATG>GTG p.M519V ASAP1_uc003ysz.1_Missense_Mutation_p.M330V|ASAP1_uc011liw.1_Missense_Mutation_p.M512V NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 519 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 TTTGCTTCCATAATATCATTA 0.328 37 69 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73233933 73233933 + Silent SNP C G G rs139079542 byFrequency TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr9:73233933C>G uc004aid.2 - 16 2416 c.2172G>C c.(2170-2172)ACG>ACC p.T724T TRPM3_uc004ahu.2_Silent_p.T554T|TRPM3_uc004ahv.2_Silent_p.T526T|TRPM3_uc004ahw.2_Silent_p.T596T|TRPM3_uc004ahx.2_Silent_p.T583T|TRPM3_uc004ahy.2_Silent_p.T586T|TRPM3_uc004ahz.2_Silent_p.T573T|TRPM3_uc004aia.2_Silent_p.T571T|TRPM3_uc004aib.2_Silent_p.T561T|TRPM3_uc004aic.2_Silent_p.T724T NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 749 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TCAGCTCATACGTCAGCAGTT 0.577 3 82 --- --- --- --- PASS RNF20 56254 broad.mit.edu 37 9 104317101 104317101 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr9:104317101G>A uc004bbn.2 + 15 2235 c.2145G>A c.(2143-2145)CAG>CAA p.Q715Q NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 715 Potential. histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AATACCTACAGAAGAAGCTAG 0.403 16 40 --- --- --- --- PASS GAPVD1 26130 broad.mit.edu 37 9 128064643 128064643 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr9:128064643G>T uc010mwx.2 + 5 893 c.567G>T c.(565-567)CTG>CTT p.L189L GAPVD1_uc004bpo.2_Silent_p.L189L|GAPVD1_uc011lzs.1_Silent_p.L189L|GAPVD1_uc004bpp.2_Silent_p.L189L|GAPVD1_uc004bpq.2_Silent_p.L189L|GAPVD1_uc004bpr.2_Silent_p.L189L|GAPVD1_uc004bps.2_Silent_p.L189L|GAPVD1_uc010mwy.1_Silent_p.L48L NM_015635 NP_056450 Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 189 Ras-GAP. endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 CTGAAGGACTGTTTTCTGCCA 0.388 3 85 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16870833 16870833 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:16870833A>T uc001ioo.2 - 66 10787 c.10735T>A c.(10735-10737)TCT>ACT p.S3579T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3579 CUB 27. 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) GAGGATGGAGAGCTGGCGTTG 0.433 OREG0020047 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 91 --- --- --- --- PASS VIM 7431 broad.mit.edu 37 10 17271981 17271981 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:17271981A>G uc001iou.2 + 2 973 c.560A>G c.(559-561)GAG>GGG p.E187G uc001iot.1_RNA|VIM_uc001iov.1_Missense_Mutation_p.E187G|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.E187G|VIM_uc001ioy.1_Missense_Mutation_p.E187G|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.E187G|VIM_uc001ipc.1_Missense_Mutation_p.E187G NM_003380 NP_003371 P08670 VIME_HUMAN vimentin 187 Rod.|Coil 1B. cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton p.E187*(1) large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 CGCCTCCGGGAGAAGTAAGGC 0.701 7 14 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18254536 18254536 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:18254536G>T uc001ipo.2 + 4 941 c.668G>T c.(667-669)GGA>GTA p.G223V SLC39A12_uc001ipn.2_Missense_Mutation_p.G223V|SLC39A12_uc001ipp.2_Missense_Mutation_p.G223V|SLC39A12_uc010qck.1_Missense_Mutation_p.G89V NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 223 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GTTTGTCTGGGACAAGGAAAC 0.438 17 59 --- --- --- --- PASS NEBL 10529 broad.mit.edu 37 10 21185952 21185952 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:21185952A>T uc001iqi.2 - 2 485 c.88T>A c.(88-90)TAT>AAT p.Y30N NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 30 Nebulin 1. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 ACAGGCTTATAGAAGACCTAT 0.353 5 141 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26432395 26432395 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:26432395G>C uc001isn.2 + 21 2641 c.2281G>C c.(2281-2283)GAT>CAT p.D761H MYO3A_uc009xko.1_Missense_Mutation_p.D761H|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 761 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 CCTAAATGAAGATGTGGATGC 0.308 12 20 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37422867 37422867 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:37422867G>A uc001iza.1 + 5 572 c.473G>A c.(472-474)TGT>TAT p.C158Y NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 214 ANK 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CTTGCTGTATGTCATGGATCA 0.373 28 209 --- --- --- --- PASS ANKRD30A 91074 broad.mit.edu 37 10 37454039 37454039 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:37454039G>A uc001iza.1 + 18 1951 c.1852G>A c.(1852-1854)GAA>AAA p.E618K NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 674 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ACTCCCATCAGAATCCAAACA 0.284 22 66 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50835781 50835781 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:50835781C>A uc001jhz.2 + 7 1214 c.1061C>A c.(1060-1062)ACG>AAG p.T354K CHAT_uc001jhv.1_Missense_Mutation_p.T236K|CHAT_uc001jhx.1_Missense_Mutation_p.T236K|CHAT_uc001jhy.1_Missense_Mutation_p.T236K|CHAT_uc001jia.2_Missense_Mutation_p.T236K|CHAT_uc010qgs.1_Missense_Mutation_p.T236K NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 354 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GGCCTGCTGACGTCTGACGGG 0.592 30 40 --- --- --- --- PASS KIAA1274 27143 broad.mit.edu 37 10 72289727 72289727 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:72289727G>T uc001jrd.3 + 4 652 c.371G>T c.(370-372)CGG>CTG p.R124L NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 124 ovary(2)|central_nervous_system(1) 3 CCCAACTTCCGGCAGGTGCAG 0.637 3 56 --- --- --- --- PASS CDH23 64072 broad.mit.edu 37 10 73406254 73406254 + Silent SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:73406254T>C uc001jrx.3 + 13 1706 c.1329T>C c.(1327-1329)TAT>TAC p.Y443Y CDH23_uc001jrw.3_Silent_p.Y443Y|CDH23_uc001jry.2_Silent_p.Y59Y|CDH23_uc001jrz.2_Silent_p.Y59Y NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 443 Cadherin 4.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ATGTGGGCTATGCCAAGGTGA 0.557 84 119 --- --- --- --- PASS C10orf58 84293 broad.mit.edu 37 10 82187220 82187220 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:82187220G>A uc001kcc.3 + 5 704 c.544G>A c.(544-546)GGG>AGG p.G182R C10orf58_uc001kcd.3_Missense_Mutation_p.G171R|C10orf58_uc001kce.3_Missense_Mutation_p.G182R|C10orf58_uc001kcf.3_Missense_Mutation_p.G182R NM_032333 NP_115709 Q9BRX8 CJ058_HUMAN hypothetical protein LOC84293 precursor 182 extracellular region 0 Colorectal(32;0.229) CTTCATCCTTGGGGGAGTTTT 0.502 34 42 --- --- --- --- PASS MYOF 26509 broad.mit.edu 37 10 95093544 95093544 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:95093544C>G uc001kin.2 - 42 4813 c.4690G>C c.(4690-4692)GAG>CAG p.E1564Q MYOF_uc001kio.2_Missense_Mutation_p.E1551Q|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1564 Cytoplasmic (Potential).|C2 5. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GGCTGGAGCTCTAAGCCTCGA 0.522 8 46 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 95791902 95791902 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:95791902A>G uc001kjk.2 + 2 1733 c.1099A>G c.(1099-1101)AAG>GAG p.K367E PLCE1_uc010qnx.1_Missense_Mutation_p.K367E NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 367 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) CATAGATCAGAAGAGAAATGG 0.483 32 35 --- --- --- --- PASS PDCD4 27250 broad.mit.edu 37 10 112653929 112653929 + Silent SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:112653929T>C uc001kzh.2 + 9 1314 c.1071T>C c.(1069-1071)CCT>CCC p.P357P PDCD4_uc001kzg.2_Silent_p.P346P|PDCD4_uc010qre.1_Silent_p.P343P NM_014456 NP_055271 Q53EL6 PDCD4_HUMAN programmed cell death 4 isoform 1 357 MI 2. apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent cytosol|nucleus protein binding|RNA binding ovary(1)|breast(1)|skin(1) 3 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGGAAGTACCTCATTTTCACC 0.333 4 115 --- --- --- --- PASS LHPP 64077 broad.mit.edu 37 10 126172723 126172723 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr10:126172723G>A uc001lhs.1 + 2 161 c.141G>A c.(139-141)CGG>CGA p.R47R LHPP_uc001lht.1_Silent_p.R47R|LHPP_uc009yai.1_Silent_p.R47R NM_022126 NP_071409 Q9H008 LHPP_HUMAN phospholysine phosphohistidine inorganic 47 protein dephosphorylation cytosol|nucleus inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity 0 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187) AGCGTTCCCGGCTGAAGGTGA 0.617 3 36 --- --- --- --- PASS OR51B4 79339 broad.mit.edu 37 11 5322984 5322984 + Missense_Mutation SNP C T T rs115914853 by1000genomes TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:5322984C>T uc010qza.1 - 1 193 c.193G>A c.(193-195)GCA>ACA p.A65T HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCGTGTCTGCCAGCATAGCC 0.517 37 86 --- --- --- --- PASS OR51B6 390058 broad.mit.edu 37 11 5373029 5373029 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:5373029C>G uc010qzb.1 + 1 292 c.292C>G c.(292-294)CAG>GAG p.Q98E HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 98 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGCTTCTCTCAGGCCTATTT 0.493 3 122 --- --- --- --- PASS OR10A4 283297 broad.mit.edu 37 11 6898336 6898336 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:6898336G>A uc010rat.1 + 1 458 c.458G>A c.(457-459)GGG>GAG p.G153E NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGGTTCTCAGGGTTTTCAGTG 0.532 32 52 --- --- --- --- PASS TPH1 7166 broad.mit.edu 37 11 18051058 18051058 + Splice_Site SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:18051058C>T uc001mnp.2 - 4 496 c.470_splice c.e4+1 p.H157_splice TPH1_uc009yhe.2_Splice_Site NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AATATACTTACTGTTTATAGT 0.284 33 92 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20668426 20668426 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:20668426G>T uc001mqd.2 + 14 2289 c.2016G>T c.(2014-2016)CAG>CAT p.Q672H SLC6A5_uc009yic.2_Missense_Mutation_p.Q437H NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 672 synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TTGGATTCCAGCCTAACATCT 0.438 32 60 --- --- --- --- PASS FIBIN 387758 broad.mit.edu 37 11 27016328 27016328 + Silent SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:27016328C>A uc001mrd.2 + 1 701 c.255C>A c.(253-255)ACC>ACA p.T85T NM_203371 NP_976249 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog precursor 85 extracellular region|Golgi apparatus 0 AGGAGTTCACCGTGCTGGGCC 0.652 6 19 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 11 30946900 30946900 + RNA SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:30946900C>T uc001mss.1 - 1 c.56G>A uc009yjk.1_Missense_Mutation_p.G433R Homo sapiens mRNA for KIAA1493 protein, partial cds. ATTTCCTTCCCCTTTTCATTG 0.353 46 159 --- --- --- --- PASS API5 8539 broad.mit.edu 37 11 43343602 43343602 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:43343602A>C uc010rfh.1 + 5 632 c.459A>C c.(457-459)AAA>AAC p.K153N API5_uc010rfg.1_Missense_Mutation_p.K142N|API5_uc001mxf.2_Missense_Mutation_p.K153N|API5_uc010rfi.1_Missense_Mutation_p.K99N|API5_uc001mxg.2_Missense_Mutation_p.K27N NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 153 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GAGCAATTAAATTCCTTTCTA 0.383 8 165 --- --- --- --- PASS PSMC3 5702 broad.mit.edu 37 11 47444133 47444133 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:47444133G>A uc001nfh.2 - 8 1070 c.876C>T c.(874-876)GGC>GGT p.G292G PSMC3_uc009ylr.1_Silent_p.G250G NM_002804 NP_002795 P17980 PRS6A_HUMAN proteasome 26S ATPase subunit 3 292 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity ovary(4) 4 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACCGCTTGGTGCCGATGGCAT 0.552 76 149 --- --- --- --- PASS PTPRJ 5795 broad.mit.edu 37 11 48166407 48166407 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:48166407A>G uc001ngp.3 + 13 3111 c.2756A>G c.(2755-2757)AAT>AGT p.N919S NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 919 Extracellular (Potential). YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035). contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|kidney(3)|ovary(1)|skin(1) 8 GGTTATTACAATGGGAAGCTG 0.458 74 120 --- --- --- --- PASS OR5AS1 219447 broad.mit.edu 37 11 55798238 55798238 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:55798238T>A uc010riw.1 + 1 344 c.344T>A c.(343-345)CTG>CAG p.L115Q NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TGCCTTATCCTGGCAGCAATG 0.473 28 47 --- --- --- --- PASS PGA5 5222 broad.mit.edu 37 11 61018735 61018735 + Silent SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:61018735C>G uc001nqz.2 + 9 1179 c.1149C>G c.(1147-1149)GGC>GGG p.G383G NM_014224 NP_055039 P00790 PEPA_HUMAN pepsinogen 5, group I precursor 383 digestion|proteolysis extracellular region aspartic-type endopeptidase activity skin(1) 1 ACCAGGTCGGCCTGGCCCCTG 0.542 58 198 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62288817 62288817 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:62288817C>A uc001ntl.2 - 5 13372 c.13072G>T c.(13072-13074)GAT>TAT p.D4358Y AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4358 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATACTGACATCAGGGGCATCA 0.493 5 205 --- --- --- --- PASS ARAP1 116985 broad.mit.edu 37 11 72412727 72412727 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:72412727C>A uc001osu.2 - 16 2458 c.2269G>T c.(2269-2271)GGC>TGC p.G757C ARAP1_uc001osv.2_Missense_Mutation_p.G757C|ARAP1_uc001osr.2_Missense_Mutation_p.G517C|ARAP1_uc001oss.2_Missense_Mutation_p.G512C|ARAP1_uc009yth.2_Missense_Mutation_p.G451C|ARAP1_uc010rre.1_Missense_Mutation_p.G512C|ARAP1_uc001osw.1_Missense_Mutation_p.G45C NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 757 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 AGCAGCTTGCCGGCAGAGGCA 0.637 68 104 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85431949 85431949 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:85431949T>C uc010rth.1 - 8 1789 c.1513A>G c.(1513-1515)AGG>GGG p.R505G SYTL2_uc010rtg.1_Missense_Mutation_p.R506G|SYTL2_uc010rti.1_Missense_Mutation_p.R505G|SYTL2_uc010rtj.1_Missense_Mutation_p.R457G|SYTL2_uc010rte.1_5'Flank|SYTL2_uc001pax.2_5'Flank|SYTL2_uc001paz.2_5'Flank|SYTL2_uc001pba.2_5'Flank|SYTL2_uc001pay.2_5'Flank|SYTL2_uc001paw.2_5'Flank|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Missense_Mutation_p.R827G|SYTL2_uc001pbb.2_Missense_Mutation_p.R827G|SYTL2_uc001pbc.2_Missense_Mutation_p.R827G|SYTL2_uc010rtf.1_Missense_Mutation_p.R363G NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 505 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) GGCATTTTCCTAGCGGCACTC 0.378 30 63 --- --- --- --- PASS CCDC83 220047 broad.mit.edu 37 11 85584264 85584264 + Nonsense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:85584264A>T uc001pbh.1 + 3 618 c.106A>T c.(106-108)AAG>TAG p.K36* CCDC83_uc001pbg.1_Nonsense_Mutation_p.K36*|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_5'UTR NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 36 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) ATGTCAAATAAAGGAAGATGC 0.264 8 49 --- --- --- --- PASS GRM5 2915 broad.mit.edu 37 11 88300351 88300351 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:88300351G>A uc001pcq.2 - 7 2700 c.2500C>T c.(2500-2502)CGC>TGC p.R834C GRM5_uc009yvm.2_Missense_Mutation_p.R834C NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 834 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) AAGGCGCTGCGCACGTTTCTC 0.572 5 120 --- --- --- --- PASS MED17 9440 broad.mit.edu 37 11 93523815 93523815 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:93523815G>A uc001pem.3 + 3 768 c.493G>A c.(493-495)GAA>AAA p.E165K NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 165 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAAGGGGGCAGAAAGACTGAC 0.398 46 129 --- --- --- --- PASS KIAA1377 57562 broad.mit.edu 37 11 101833133 101833133 + Missense_Mutation SNP G C C rs149377851 TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:101833133G>C uc001pgm.2 + 6 1637 c.1367G>C c.(1366-1368)TGT>TCT p.C456S KIAA1377_uc001pgn.2_Missense_Mutation_p.C412S|KIAA1377_uc010run.1_Missense_Mutation_p.C257S|KIAA1377_uc009yxa.1_Missense_Mutation_p.C257S NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 456 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) CCTACTTCATGTGTACCAGTG 0.378 8 97 --- --- --- --- PASS KIAA1826 84437 broad.mit.edu 37 11 105880331 105880331 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:105880331C>T uc001piy.2 - 3 1142 c.969G>A c.(967-969)CAG>CAA p.Q323Q KIAA1826_uc001piz.2_Silent_p.Q323Q NM_032424 NP_115800 Q8NCY6 K1826_HUMAN hypothetical protein LOC84437 323 Potential. nucleus breast(1) 1 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.56e-05)|Epithelial(105;0.00432)|all cancers(92;0.0309) CCTTTTCAATCTGCAGCTTCT 0.408 7 183 --- --- --- --- PASS DDX6 1656 broad.mit.edu 37 11 118638961 118638961 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:118638961G>A uc001pub.2 - 5 830 c.469C>T c.(469-471)CGG>TGG p.R157W DDX6_uc001puc.2_Missense_Mutation_p.R157W NM_004397 NP_004388 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 157 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity ovary(1) 1 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) AGGTCTAGCCGTTCAAGTAAG 0.413 T IGH@ B-NHL 16 30 --- --- --- --- PASS OR8G2 26492 broad.mit.edu 37 11 124096262 124096262 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:124096262G>T uc010saf.1 + 1 865 c.865G>T c.(865-867)GTG>TTG p.V289L NM_001007249 NP_001007250 Q15614 OR8G2_HUMAN olfactory receptor, family 8, subfamily G, 289 integral to membrane olfactory receptor activity 0 Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AGTGTCCTCTGTGTTTTATAC 0.458 6 70 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124252781 124252781 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr11:124252781C>A uc010sai.1 - 1 459 c.459G>T c.(457-459)TTG>TTT p.L153F NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGGCTCCAGCCAATCCCATTA 0.493 8 9 --- --- --- --- PASS CACNA1C 775 broad.mit.edu 37 12 2721173 2721173 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:2721173A>G uc009zdu.1 + 30 4195 c.3882A>G c.(3880-3882)AAA>AAG p.K1294K CACNA1C_uc009zdv.1_Silent_p.K1271K|CACNA1C_uc001qkb.2_Silent_p.K1274K|CACNA1C_uc001qkc.2_Silent_p.K1274K|CACNA1C_uc001qke.2_Silent_p.K1274K|CACNA1C_uc001qkf.2_Silent_p.K1274K|CACNA1C_uc001qjz.2_Silent_p.K1274K|CACNA1C_uc001qkd.2_Silent_p.K1274K|CACNA1C_uc001qkg.2_Silent_p.K1274K|CACNA1C_uc009zdw.1_Silent_p.K1274K|CACNA1C_uc001qkh.2_Silent_p.K1274K|CACNA1C_uc001qkl.2_Silent_p.K1294K|CACNA1C_uc001qkn.2_Silent_p.K1274K|CACNA1C_uc001qko.2_Silent_p.K1294K|CACNA1C_uc001qkp.2_Silent_p.K1274K|CACNA1C_uc001qkr.2_Silent_p.K1274K|CACNA1C_uc001qku.2_Silent_p.K1274K|CACNA1C_uc001qkq.2_Silent_p.K1274K|CACNA1C_uc001qks.2_Silent_p.K1274K|CACNA1C_uc001qkt.2_Silent_p.K1274K|CACNA1C_uc001qka.1_Silent_p.K809K|CACNA1C_uc001qki.1_Silent_p.K1010K|CACNA1C_uc001qkj.1_Silent_p.K1010K|CACNA1C_uc001qkk.1_Silent_p.K1010K|CACNA1C_uc001qkm.1_Silent_p.K1010K NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1294 Cytoplasmic (Potential).|IV. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TTGCCTTCAAACCCAAGGTAG 0.537 11 39 --- --- --- --- PASS CLEC4C 170482 broad.mit.edu 37 12 7894112 7894112 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:7894112A>G uc001qtg.1 - 3 314 c.140T>C c.(139-141)ATG>ACG p.M47T CLEC4C_uc001qth.1_Missense_Mutation_p.M47T|CLEC4C_uc001qti.1_Missense_Mutation_p.M16T NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 47 Extracellular (Potential). innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) TTTGCTATACATAAAATTGTG 0.378 5 105 --- --- --- --- PASS PRR4 11272 broad.mit.edu 37 12 11000994 11000994 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:11000994T>C uc001qyz.3 - 2 116 c.77A>G c.(76-78)GAA>GGA p.E26G PRR4_uc009zhp.2_Missense_Mutation_p.E39G|PRH1_uc001qzb.3_RNA|PRR4_uc001qza.3_RNA|PRR4_uc009zhq.1_RNA NM_007244 NP_009175 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) isoform 2 26 visual perception extracellular space 0 AGTAAAGTCTTCATAGTTCAC 0.383 8 72 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12303938 12303938 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:12303938A>G uc001rah.3 - 13 2968 c.2826T>C c.(2824-2826)AGT>AGC p.S942S BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.S942S NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 942 Extracellular (Potential).|Beta-propeller 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) GGTTGATGGCACTCTTTTGAC 0.438 5 82 --- --- --- --- PASS IPO8 10526 broad.mit.edu 37 12 30805224 30805224 + Splice_Site SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:30805224C>T uc001rjd.2 - 19 2245 c.2075_splice c.e19-1 p.D692_splice IPO8_uc001rje.1_Splice_Site_p.D181_splice|IPO8_uc010sjt.1_Splice_Site_p.D487_splice NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GGCATCATGTCTGAAAAAAAA 0.323 5 78 --- --- --- --- PASS PKP2 5318 broad.mit.edu 37 12 32996237 32996237 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:32996237G>T uc001rlj.3 - 6 1504 c.1389C>A c.(1387-1389)GTC>GTA p.V463V PKP2_uc001rlk.3_Intron|PKP2_uc010skj.1_Intron NM_004572 NP_004563 Q99959 PKP2_HUMAN plakophilin 2 isoform 2b 463 ARM 3. cell-cell adhesion desmosome|integral to membrane|nucleus binding ovary(1)|pancreas(1) 2 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TTCTTAAATTGACTGTATGGT 0.274 5 95 --- --- --- --- PASS LRRK2 120892 broad.mit.edu 37 12 40707775 40707775 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:40707775T>C uc001rmg.3 + 32 4659 c.4538T>C c.(4537-4539)ATC>ACC p.I1513T LRRK2_uc009zjw.2_Missense_Mutation_p.I351T|LRRK2_uc001rmi.2_Missense_Mutation_p.I346T NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1513 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ATTTCATAGATCCGAGATCAG 0.343 4 35 --- --- --- --- PASS YAF2 10138 broad.mit.edu 37 12 42554536 42554536 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:42554536T>A uc001rmv.2 - 4 466 c.398A>T c.(397-399)AAA>ATA p.K133I YAF2_uc001rmw.2_Missense_Mutation_p.K157I|YAF2_uc010sko.1_Missense_Mutation_p.K124I|YAF2_uc010skp.1_Missense_Mutation_p.K91I NM_005748 NP_005739 Q8IY57 YAF2_HUMAN YY1 associated factor 2 133 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding 0 all_cancers(12;0.000425) Lung NSC(34;0.0402)|all_lung(34;0.057) GBM - Glioblastoma multiforme(48;0.0514) TGACTTTGTTTTCTCCTTAAA 0.438 30 34 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46233248 46233248 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:46233248C>T uc001ros.1 + 11 1467 c.1467C>T c.(1465-1467)GTC>GTT p.V489V ARID2_uc001ror.2_Silent_p.V489V|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Silent_p.V116V|ARID2_uc001rot.1_Silent_p.V135V NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 489 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TAGAGCAAGTCCAAACCCAGA 0.403 4 225 --- --- --- --- PASS DIP2B 57609 broad.mit.edu 37 12 51138612 51138612 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:51138612A>T uc001rwv.2 + 38 4877 c.4721A>T c.(4720-4722)TAT>TTT p.Y1574F DIP2B_uc009zlt.2_Missense_Mutation_p.Y1004F NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1574 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TACGTGGCTTATAACATGTAA 0.507 15 67 --- --- --- --- PASS SLC11A2 4891 broad.mit.edu 37 12 51402304 51402304 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:51402304G>A uc001rxe.3 - 3 235 c.138C>T c.(136-138)TAC>TAT p.Y46Y SLC11A2_uc001rxd.3_5'UTR|SLC11A2_uc001rxc.3_Silent_p.Y46Y|SLC11A2_uc001rxf.2_RNA|SLC11A2_uc010smx.1_Silent_p.Y42Y|SLC11A2_uc001rxh.1_Silent_p.Y46Y|SLC11A2_uc001rxj.1_Silent_p.Y46Y|SLC11A2_uc001rxi.2_Silent_p.Y46Y|SLC11A2_uc001rxk.1_Silent_p.Y75Y|SLC11A2_uc010smy.1_Silent_p.Y9Y NM_000617 NP_000608 P49281 NRAM2_HUMAN solute carrier family 11 (proton-coupled 46 Cytoplasmic (Potential). activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network cadmium ion transmembrane transporter activity|cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity large_intestine(1) 1 AAGTGGCGAAGTACTCCTCTG 0.488 13 170 --- --- --- --- PASS HOXC4 3221 broad.mit.edu 37 12 54447770 54447770 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:54447770G>C uc001seu.2 + 3 744 c.64G>C c.(64-66)GAA>CAA p.E22Q HOXC4_uc001sex.2_Missense_Mutation_p.E22Q NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 22 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCCATGCGAAGAATATTCGCA 0.448 120 132 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 70983913 70983913 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:70983913C>T uc001swb.3 - 6 1257 c.1227G>A c.(1225-1227)CGG>CGA p.R409R PTPRB_uc010sto.1_Silent_p.R409R|PTPRB_uc010stp.1_Intron|PTPRB_uc001swc.3_Silent_p.R627R|PTPRB_uc001swa.3_Silent_p.R627R|PTPRB_uc001swd.3_Silent_p.R626R|PTPRB_uc009zrr.1_Silent_p.R506R NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 409 Fibronectin type-III 5.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGAGTAGGATCCGATACTGCT 0.512 OREG0021990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 133 --- --- --- --- PASS PTPRR 5801 broad.mit.edu 37 12 71139710 71139710 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:71139710G>T uc001swi.1 - 6 1311 c.895C>A c.(895-897)CTG>ATG p.L299M PTPRR_uc001swh.1_Missense_Mutation_p.L54M|PTPRR_uc009zrs.2_Missense_Mutation_p.L148M|PTPRR_uc010stq.1_Missense_Mutation_p.L187M|PTPRR_uc010str.1_Missense_Mutation_p.L148M NM_002849 NP_002840 Q15256 PTPRR_HUMAN protein tyrosine phosphatase, receptor type, R 299 Cytoplasmic (Potential). in utero embryonic development cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132) COAD - Colon adenocarcinoma(1;0.136) ACAACATTCAGTACCTTTGGG 0.537 35 81 --- --- --- --- PASS LRRIQ1 84125 broad.mit.edu 37 12 85626479 85626479 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:85626479A>G uc001tac.2 + 26 5072 c.4961A>G c.(4960-4962)CAC>CGC p.H1654R NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1654 ovary(4)|central_nervous_system(1)|skin(1) 6 GBM - Glioblastoma multiforme(134;0.212) TGCAGCAATCACTTTTTGCCT 0.338 42 51 --- --- --- --- PASS CCDC41 51134 broad.mit.edu 37 12 94706779 94706779 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:94706779A>C uc001tdd.2 - 15 2308 c.1722T>G c.(1720-1722)CAT>CAG p.H574Q CCDC41_uc001tde.2_Missense_Mutation_p.H574Q|CCDC41_uc009zsw.1_RNA NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 566 Potential. 0 ATTTGTTTTCATGAAGAGATT 0.269 11 32 --- --- --- --- PASS TBX5 6910 broad.mit.edu 37 12 114836499 114836499 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:114836499G>T uc001tvo.2 - 5 884 c.389C>A c.(388-390)GCC>GAC p.A130D TBX5_uc001tvp.2_Missense_Mutation_p.A130D|TBX5_uc001tvq.2_Missense_Mutation_p.A80D|TBX5_uc010syv.1_Missense_Mutation_p.A130D NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 130 T-box. cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GCCAGGCATGGCGGGCTCAGC 0.612 8 9 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116424272 116424272 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:116424272C>T uc001tvw.2 - 19 4192 c.4137G>A c.(4135-4137)CCG>CCA p.P1379P NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1379 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGATGGGCAACGGCTCAGGAG 0.473 14 83 --- --- --- --- PASS TUBA3C 7278 broad.mit.edu 37 13 19748040 19748040 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr13:19748040G>A uc009zzj.2 - 5 1365 c.1316C>T c.(1315-1317)TCC>TTC p.S439F NM_006001 NP_005992 Q13748 TBA3C_HUMAN tubulin, alpha 3c 439 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3)|skin(2) 5 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GGCTTCCACGGAATCCACGCC 0.592 8 140 --- --- --- --- PASS MTUS2 23281 broad.mit.edu 37 13 29608097 29608097 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr13:29608097C>G uc001usl.3 + 2 2369 c.2311C>G c.(2311-2313)CGG>GGG p.R771G NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 761 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 AACTTTCTATCGGTCAGCCAT 0.453 3 44 --- --- --- --- PASS CCNA1 8900 broad.mit.edu 37 13 37014302 37014302 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr13:37014302G>T uc001uvr.3 + 6 1430 c.1080G>T c.(1078-1080)AGG>AGT p.R360S CCNA1_uc010teo.1_Missense_Mutation_p.R316S|CCNA1_uc010abq.2_Missense_Mutation_p.R316S|CCNA1_uc010abp.2_Missense_Mutation_p.R316S|CCNA1_uc001uvs.3_Missense_Mutation_p.R359S|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 360 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TGTGCGTCAGGACTGAGAACC 0.468 46 57 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77629779 77629779 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr13:77629779T>C uc001vkf.2 - 81 13538 c.13447A>G c.(13447-13449)ACA>GCA p.T4483A MYCBP2_uc010aev.2_Missense_Mutation_p.T3887A|MYCBP2_uc001vke.2_Missense_Mutation_p.T1100A NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCAGGAGTTGTGATAGCTTCA 0.363 27 58 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23869498 23869498 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:23869498C>A uc001wjv.2 - 14 1615 c.1548G>T c.(1546-1548)ATG>ATT p.M516I MYH6_uc010akp.1_Missense_Mutation_p.M516I NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 516 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCTGCAGGTCCATGCCAAAGT 0.557 30 55 --- --- --- --- PASS RIPK3 11035 broad.mit.edu 37 14 24805493 24805493 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:24805493G>A uc001wpb.2 - 10 1655 c.1445C>T c.(1444-1446)TCG>TTG p.S482L ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.S282L|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.S261L NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 482 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity central_nervous_system(2)|ovary(1)|lung(1) 4 GBM - Glioblastoma multiforme(265;0.0181) CCCCTTGCCCGAAGGTGCCAA 0.542 47 93 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33016177 33016177 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:33016177A>C uc001wrq.2 + 4 2488 c.2318A>C c.(2317-2319)AAC>ACC p.N773T AKAP6_uc010aml.2_Missense_Mutation_p.N770T NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 773 Spectrin 1. protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CACCAAGACAACTATGAAGCC 0.383 43 93 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47324237 47324237 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:47324237G>T uc001wwj.3 - 15 2862 c.2666C>A c.(2665-2667)ACT>AAT p.T889N MDGA2_uc001wwh.3_Missense_Mutation_p.T91N|MDGA2_uc001wwi.3_Missense_Mutation_p.T660N NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 889 MAM. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CTGAAATGAAGTAATTGGGTA 0.323 5 110 --- --- --- --- PASS STYX 6815 broad.mit.edu 37 14 53217453 53217453 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:53217453A>T uc010tqy.1 + 5 259 c.197A>T c.(196-198)AAT>ATT p.N66I STYX_uc001xaa.2_Missense_Mutation_p.N66I NM_001130701 NP_001124173 Q8WUJ0 STYX_HUMAN serine/threonine/tyrosine interacting protein 66 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity 0 Breast(41;0.176) ATACGACAAAATATTGAAGCA 0.299 7 198 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63483556 63483556 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:63483556T>A uc001xfx.2 - 2 241 c.190A>T c.(190-192)ACT>TCT p.T64S KCNH5_uc001xfy.2_Missense_Mutation_p.T64S|KCNH5_uc001xfz.1_Missense_Mutation_p.T6S|KCNH5_uc001xga.2_Missense_Mutation_p.T6S NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 64 Cytoplasmic (Potential).|PAS. regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TACCTGCAAGTGCTGCTTTTC 0.378 20 91 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64488573 64488573 + Splice_Site SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:64488573A>C uc001xgm.2 + 37 5583 c.5353_splice c.e37-2 p.E1785_splice SYNE2_uc001xgl.2_Splice_Site_p.E1785_splice NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTATGCATTTAGGAGATACAA 0.318 18 66 --- --- --- --- PASS C14orf179 112752 broad.mit.edu 37 14 76452154 76452154 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:76452154G>C uc010asm.1 + 1 59 c.25G>C c.(25-27)GAG>CAG p.E9Q C14orf179_uc001xsf.2_RNA|C14orf179_uc010asl.1_Missense_Mutation_p.E9Q|C14orf179_uc001xsg.2_Missense_Mutation_p.E9Q|C14orf179_uc010tve.1_RNA|C14orf179_uc001xse.2_Missense_Mutation_p.E9Q NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 9 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) CGACTTGGACGAGGAGCTTCG 0.672 16 50 --- --- --- --- PASS TDP1 55775 broad.mit.edu 37 14 90459730 90459730 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:90459730G>T uc001xxy.2 + 14 1743 c.1444G>T c.(1444-1446)GCT>TCT p.A482S TDP1_uc010atm.2_RNA|TDP1_uc001xxz.2_Missense_Mutation_p.A482S|TDP1_uc010atn.2_Missense_Mutation_p.A482S|TDP1_uc001xya.2_Missense_Mutation_p.A243S|TDP1_uc001xyb.2_RNA|TDP1_uc010ato.2_Missense_Mutation_p.A482S|TDP1_uc001xyd.1_Missense_Mutation_p.A97S NM_018319 NP_060789 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 482 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) CAAATGGTCAGCTGAGACTTC 0.373 Repair_of_DNA-protein_crosslinks 12 42 --- --- --- --- PASS TRAF3 7187 broad.mit.edu 37 14 103371655 103371655 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:103371655A>G uc001ymc.1 + 12 1594 c.1241A>G c.(1240-1242)TAC>TGC p.Y414C TRAF3_uc001yme.1_Missense_Mutation_p.Y389C|TRAF3_uc001ymd.1_Missense_Mutation_p.Y414C|TRAF3_uc010txy.1_Missense_Mutation_p.Y331C NM_145725 NP_663777 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 isoform 1 414 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) ACCGCCAGCTACAATGGAGTG 0.597 25 66 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106725354 106725354 + RNA SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr14:106725354C>A uc010tyt.1 - 588 c.18193G>T Parts of antibodies, mostly variable regions. 0 TAGCTGAGACCCACTCCAGCC 0.572 57 368 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24924477 24924477 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:24924477C>T uc001ywo.2 + 1 3937 c.3463C>T c.(3463-3465)CTT>TTT p.L1155F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 1155 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTGTTTCCAACTTCCGTAAGA 0.428 5 86 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25966982 25966982 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:25966982G>A uc010ayu.2 - 7 1291 c.1185C>T c.(1183-1185)GAC>GAT p.D395D NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 395 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) ACAACTGCATGTCCTGGTTAA 0.423 10 132 --- --- --- --- PASS GABRA5 2558 broad.mit.edu 37 15 27193318 27193318 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:27193318G>T uc001zbd.1 + 12 1666 c.1327G>T c.(1327-1329)GTT>TTT p.V443F GABRA5_uc001zbe.1_RNA NM_000810 NP_000801 P31644 GBRA5_HUMAN gamma-aminobutyric acid A receptor, alpha 5 443 Helical; (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(1) 1 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTTCAACTTAGTTTACTGGGC 0.443 9 19 --- --- --- --- PASS FSIP1 161835 broad.mit.edu 37 15 40030346 40030346 + Silent SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:40030346C>A uc001zki.2 - 8 1055 c.837G>T c.(835-837)CTG>CTT p.L279L NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 279 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AAAGCTCAACCAGCCTTTTCT 0.378 35 86 --- --- --- --- PASS UBR1 197131 broad.mit.edu 37 15 43363118 43363118 + Silent SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:43363118T>A uc001zqq.2 - 5 600 c.534A>T c.(532-534)TCA>TCT p.S178S UBR1_uc010udk.1_Silent_p.S178S NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 178 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) ACGGACAGCGTGAATTCTATA 0.323 24 62 --- --- --- --- PASS SLC30A4 7782 broad.mit.edu 37 15 45779781 45779781 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:45779781A>G uc001zvj.2 - 6 1256 c.944T>C c.(943-945)CTT>CCT p.L315P NM_013309 NP_037441 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), 315 Helical; (Potential). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity 0 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) AAAAGCCACAAGTAATGAAAA 0.308 3 163 --- --- --- --- PASS SLC12A1 6557 broad.mit.edu 37 15 48561893 48561893 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:48561893G>T uc001zwn.3 + 19 2550 c.2334G>T c.(2332-2334)GTG>GTT p.V778V SLC12A1_uc010uew.1_Silent_p.V584V|SLC12A1_uc010bem.2_Silent_p.V778V|SLC12A1_uc001zwq.3_Silent_p.V549V|SLC12A1_uc001zwr.3_Silent_p.V505V NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 778 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) ACACTCTGGTGATTGGATATA 0.418 5 30 --- --- --- --- PASS PRTG 283659 broad.mit.edu 37 15 55964742 55964742 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:55964742T>A uc002adg.2 - 11 1990 c.1942A>T c.(1942-1944)ATT>TTT p.I648F PRTG_uc002adh.2_Missense_Mutation_p.I150F NM_173814 NP_776175 Q2VWP7 PRTG_HUMAN protogenin precursor 648 Fibronectin type-III 3. multicellular organismal development integral to membrane large_intestine(1)|ovary(1)|skin(1) 3 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) TAGCCCTGAATAGCAGCTGTG 0.488 23 83 --- --- --- --- PASS ZNF609 23060 broad.mit.edu 37 15 64915056 64915056 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:64915056C>G uc002ann.2 + 2 778 c.778C>G c.(778-780)CTG>GTG p.L260V NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 260 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ACCAGCAGTGCTGCCAATACA 0.473 68 129 --- --- --- --- PASS IL16 3603 broad.mit.edu 37 15 81598257 81598257 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:81598257A>G uc002bgh.3 + 17 3805 c.3429A>G c.(3427-3429)AGA>AGG p.R1143R IL16_uc010blq.1_Silent_p.R1097R|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.R1185R|IL16_uc002bgg.2_Silent_p.R1143R|IL16_uc002bgi.1_Silent_p.R533R|IL16_uc002bgj.2_Silent_p.R637R|IL16_uc002bgk.2_Silent_p.R442R|IL16_uc002bgl.1_Silent_p.R442R|IL16_uc010unq.1_Silent_p.R442R NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 1143 PDZ 3.|Interaction with PPP1R12A, PPP1R12B and PPP1R12C. immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 AGGTTCACAGAGTGTTTCCAA 0.507 7 144 --- --- --- --- PASS EFTUD1 79631 broad.mit.edu 37 15 82512533 82512533 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:82512533G>A uc002bgt.1 - 13 1499 c.1330C>T c.(1330-1332)CGT>TGT p.R444C EFTUD1_uc002bgu.1_Missense_Mutation_p.R393C NM_024580 NP_078856 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain 444 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity ovary(1) 1 TGTCTTGCACGCTCACGTCTC 0.498 6 392 --- --- --- --- PASS SYNM 23336 broad.mit.edu 37 15 99673095 99673095 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:99673095G>T uc002bup.2 + 6 4650 c.4530G>T c.(4528-4530)GGG>GGT p.G1510G SYNM_uc002buo.2_Silent_p.G1198G|SYNM_uc002buq.2_RNA NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1510 Tail.|Interaction with DMD and UTRN. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 CCTCTGCTGGGGAAGGAGACC 0.562 22 76 --- --- --- --- PASS ADAMTS17 170691 broad.mit.edu 37 15 100871105 100871105 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:100871105T>C uc002bvv.1 - 3 684 c.605A>G c.(604-606)AAG>AGG p.K202R ADAMTS17_uc002bvx.1_5'UTR NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 202 Cysteine switch (By similarity). proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) TGTTAGAACCTTGCAGAGCTG 0.567 46 121 --- --- --- --- PASS LRRK1 79705 broad.mit.edu 37 15 101562654 101562654 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr15:101562654A>C uc002bwr.2 + 15 2238 c.1919A>C c.(1918-1920)AAG>ACG p.K640T LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 640 Roc. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AAGCTGATGAAGATGATCATC 0.592 38 103 --- --- --- --- PASS USP7 7874 broad.mit.edu 37 16 9012908 9012908 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr16:9012908A>C uc002czl.2 - 6 899 c.700T>G c.(700-702)TTC>GTC p.F234V USP7_uc010uyk.1_Missense_Mutation_p.F135V|USP7_uc010uyj.1_Missense_Mutation_p.F135V|USP7_uc002czk.2_Missense_Mutation_p.F218V|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 234 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TGATTCGTGAAAAATAACGTC 0.463 13 231 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20451694 20451694 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr16:20451694C>G uc002dhe.2 + 14 1832 c.1685C>G c.(1684-1686)ACG>AGG p.T562R NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 562 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CTGCCAAAGACGGTTTCTGGA 0.448 22 55 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50339494 50339494 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr16:50339494C>T uc002egd.1 + 12 1944 c.1676C>T c.(1675-1677)ACG>ATG p.T559M ADCY7_uc002egc.1_Missense_Mutation_p.T559M NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 559 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CTCAGCTCCACGAGGTGAGGT 0.607 6 186 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77369733 77369733 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr16:77369733G>T uc002ffc.3 - 12 2198 c.1779C>A c.(1777-1779)TCC>TCA p.S593S ADAMTS18_uc010chc.1_Silent_p.S181S|ADAMTS18_uc002ffe.1_Silent_p.S289S NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 593 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TCGACCAGGCGGACCACTGGC 0.572 80 200 --- --- --- --- PASS ADAMTS18 170692 broad.mit.edu 37 16 77397773 77397773 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr16:77397773G>T uc002ffc.3 - 6 1401 c.982C>A c.(982-984)CTA>ATA p.L328I ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.L24I|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 328 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 TCTTTAAATAGGCCAGAAACC 0.383 25 67 --- --- --- --- PASS MTHFSD 64779 broad.mit.edu 37 16 86565980 86565980 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr16:86565980C>T uc002fjn.2 - 8 840 c.789G>A c.(787-789)CCG>CCA p.P263P MTHFSD_uc010voo.1_Silent_p.P243P|MTHFSD_uc002fjo.2_Silent_p.P100P|MTHFSD_uc002fjm.2_Silent_p.P262P|MTHFSD_uc010vop.1_Silent_p.P100P|MTHFSD_uc010voq.1_Silent_p.P262P|MTHFSD_uc010vor.1_Silent_p.P263P NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 263 folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 AGCCTGGTTCCGGAAGGTGCT 0.637 3 9 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5074150 5074150 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:5074150C>A uc002gau.1 + 36 6124 c.3894C>A c.(3892-3894)AGC>AGA p.S1298R USP6_uc002gav.1_Missense_Mutation_p.S1298R|USP6_uc010ckz.1_Missense_Mutation_p.S981R NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 1298 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 AAGAAGACAGCACTGATGACC 0.418 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 4 115 --- --- --- --- PASS MYOCD 93649 broad.mit.edu 37 17 12656437 12656437 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:12656437A>G uc002gnn.2 + 10 2131 c.1832A>G c.(1831-1833)AAT>AGT p.N611S MYOCD_uc002gno.2_Missense_Mutation_p.N611S|MYOCD_uc002gnp.1_Missense_Mutation_p.N515S|MYOCD_uc002gnq.2_Missense_Mutation_p.N330S NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 611 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) CCTCTTGGAAATGCTCATTGT 0.512 10 194 --- --- --- --- PASS SLC13A2 9058 broad.mit.edu 37 17 26817738 26817738 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:26817738C>A uc002hbh.2 + 4 455 c.388C>A c.(388-390)CTG>ATG p.L130M SLC13A2_uc010wal.1_Missense_Mutation_p.L87M|SLC13A2_uc010wam.1_Missense_Mutation_p.L86M|SLC13A2_uc010wan.1_Missense_Mutation_p.L179M|SLC13A2_uc010wao.1_Missense_Mutation_p.L87M|SLC13A2_uc002hbi.2_Missense_Mutation_p.L59M NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 130 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GGGCTTCATGCTGGTCACGGC 0.592 55 33 --- --- --- --- PASS KRT222 125113 broad.mit.edu 37 17 38812817 38812817 + Nonsense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:38812817A>T uc002hvc.2 - 6 790 c.725T>A c.(724-726)TTG>TAG p.L242* KRT222_uc010wfk.1_RNA|KRT222_uc002hvb.2_Nonsense_Mutation_p.L202* NM_152349 NP_689562 Q8N1A0 KT222_HUMAN truncated type I keratin KA21 242 intermediate filament structural molecule activity central_nervous_system(1)|skin(1) 2 CTTTTTCCTCAATCGAGGGTT 0.343 67 52 --- --- --- --- PASS NSF 4905 broad.mit.edu 37 17 44782198 44782198 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:44782198C>T uc002iku.2 + 13 1552 c.1448C>T c.(1447-1449)TCT>TTT p.S483F NSF_uc010wke.1_Missense_Mutation_p.S389F|NSF_uc010wkf.1_Missense_Mutation_p.S389F|NSF_uc010wkg.1_Missense_Mutation_p.S478F NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 483 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) TTCCTTGCTTCTTTGGAGAAT 0.383 9 73 --- --- --- --- PASS ABCC3 8714 broad.mit.edu 37 17 48753334 48753334 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:48753334G>C uc002isl.2 + 22 3030 c.2950G>C c.(2950-2952)GCT>CCT p.A984P ABCC3_uc002isn.2_5'Flank NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 984 ABC transmembrane type-1 2.|Helical; Name=12; (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCAAAGTGCGGCTGCCATTGG 0.567 22 21 --- --- --- --- PASS UTP18 51096 broad.mit.edu 37 17 49337958 49337958 + Silent SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:49337958C>A uc002its.2 + 1 62 c.13C>A c.(13-15)CGG>AGG p.R5R MBTD1_uc002itr.3_5'Flank|MBTD1_uc002itq.3_5'Flank NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component 5 rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) GCCGCCGGAGCGGAGGAGACG 0.701 15 11 --- --- --- --- PASS RNF43 54894 broad.mit.edu 37 17 56435317 56435317 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:56435317G>A uc002iwf.2 - 8 3776 c.1820C>T c.(1819-1821)TCG>TTG p.S607L RNF43_uc010wnv.1_Missense_Mutation_p.S566L|RNF43_uc002iwh.3_Missense_Mutation_p.S607L|RNF43_uc002iwg.3_Missense_Mutation_p.S607L|RNF43_uc010dcw.2_Missense_Mutation_p.S480L NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 607 Pro-rich.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GAGCCGCCCCGAAGGGGCTGC 0.647 13 151 --- --- --- --- PASS SDK2 54549 broad.mit.edu 37 17 71391524 71391524 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:71391524G>A uc010dfm.2 - 25 3362 c.3362C>T c.(3361-3363)CCG>CTG p.P1121L SDK2_uc002jjt.3_Missense_Mutation_p.P280L|SDK2_uc010dfn.2_Missense_Mutation_p.P800L NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1121 Extracellular (Potential).|Fibronectin type-III 6. cell adhesion integral to membrane ovary(2) 2 TTCCATCTCCGGGAGAGGCTG 0.632 13 57 --- --- --- --- PASS UNC13D 201294 broad.mit.edu 37 17 73827393 73827393 + Silent SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:73827393C>T uc002jpp.2 - 26 2864 c.2484G>A c.(2482-2484)GTG>GTA p.V828V UNC13D_uc010wsk.1_Silent_p.V828V|UNC13D_uc002jpq.1_3'UTR NM_199242 NP_954712 Q70J99 UN13D_HUMAN unc-13 homolog D 828 MHD2. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding upper_aerodigestive_tract(1)|skin(1) 2 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) CCTCCACCAGCACTGTGAGTG 0.652 Familial_Hemophagocytic_Lymphohistiocytosis 10 39 --- --- --- --- PASS MYO5B 4645 broad.mit.edu 37 18 47527731 47527731 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr18:47527731T>C uc002leb.2 - 5 794 c.506A>G c.(505-507)AAG>AGG p.K169R MYO5B_uc002lec.1_Missense_Mutation_p.K168R NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 169 Myosin head-like.|ATP (Potential). protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) TGATACCGTCTTCCCGGCTCC 0.522 3 165 --- --- --- --- PASS DCC 1630 broad.mit.edu 37 18 50589827 50589827 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr18:50589827G>T uc002lfe.1 + 6 1725 c.1138G>T c.(1138-1140)GTG>TTG p.V380L DCC_uc010xdr.1_Missense_Mutation_p.V228L|DCC_uc010dpf.1_Missense_Mutation_p.V35L NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 380 Extracellular (Potential).|Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) TTTTCAGATAGTGGTAATTAT 0.313 51 63 --- --- --- --- PASS CDH19 28513 broad.mit.edu 37 18 64235678 64235678 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr18:64235678G>T uc002lkc.1 - 3 603 c.465C>A c.(463-465)GCC>GCA p.A155A CDH19_uc010dql.1_RNA|CDH19_uc010xey.1_Silent_p.A155A|CDH19_uc002lkd.2_Silent_p.A155A NM_021153 NP_066976 Q9H159 CAD19_HUMAN cadherin 19, type 2 preproprotein 155 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 Esophageal squamous(42;0.0132) CTGGTACAATGGCCTCATAAG 0.363 19 107 --- --- --- --- PASS DSEL 92126 broad.mit.edu 37 18 65179558 65179558 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr18:65179558C>A uc002lke.1 - 2 3542 c.2318G>T c.(2317-2319)AGG>ATG p.R773M NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 763 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) GAAAATAATCCTATCATGTCT 0.383 10 100 --- --- --- --- PASS ZNF236 7776 broad.mit.edu 37 18 74620433 74620433 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr18:74620433G>A uc002lmi.2 + 14 2647 c.2449G>A c.(2449-2451)GAG>AAG p.E817K ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 817 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGCGAACCCCGAGGCCATGCT 0.627 5 60 --- --- --- --- PASS FUT5 2527 broad.mit.edu 37 19 5867525 5867525 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:5867525G>T uc002mdo.3 - 2 300 c.212C>A c.(211-213)CCT>CAT p.P71H FUT5_uc010duo.2_Missense_Mutation_p.P71H NM_002034 NP_002025 Q11128 FUT5_HUMAN fucosyltransferase 5 71 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 GGGGTGGGCAGGGGTCGCCAT 0.667 10 75 --- --- --- --- PASS CLEC4M 10332 broad.mit.edu 37 19 7831639 7831639 + Silent SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:7831639C>G uc002mih.2 + 6 931 c.813C>G c.(811-813)ACC>ACG p.T271T CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc010xjw.1_Silent_p.T227T|CLEC4M_uc010dvt.2_Silent_p.T248T|CLEC4M_uc010dvs.2_Silent_p.T270T|CLEC4M_uc010xjx.1_Silent_p.T243T|CLEC4M_uc002mhz.2_Silent_p.T202T|CLEC4M_uc002mic.2_Silent_p.T266T|CLEC4M_uc002mia.2_Silent_p.T158T NM_001144910 NP_001138382 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M isoform 294 Extracellular (Probable).|C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding pancreas(1) 1 ACTCCGTCACCGCCTGCCAGG 0.592 34 84 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9003659 9003659 + Silent SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:9003659G>T uc002mkp.2 - 49 40185 c.39981C>A c.(39979-39981)CTC>CTA p.L13327L MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L144L|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 13329 Extracellular (Potential).|SEA 9. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGTAAAATTGAGGGTGAATG 0.473 55 110 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602310 10602310 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:10602310C>A uc002moq.1 - 3 1424 c.1268G>T c.(1267-1269)GGC>GTC p.G423V KEAP1_uc002mop.1_Missense_Mutation_p.G141V|KEAP1_uc002mor.1_Missense_Mutation_p.G423V NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 423 Kelch 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) ATAGATGTGGCCATCGATGAC 0.667 5 4 --- --- --- --- PASS MIR181D 574457 broad.mit.edu 37 19 13985806 13985806 + RNA SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:13985806G>T hsa-mir-181d|MI0003139 + c.118G>T NANOS3_uc002mxj.3_5'Flank 0 GGCCAGACACGGCTTAAGGGG 0.587 19 30 --- --- --- --- PASS CYP4F12 66002 broad.mit.edu 37 19 15807756 15807756 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:15807756A>C uc002nbl.2 + 13 1497 c.1436A>C c.(1435-1437)AAA>ACA p.K479T NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) GCGGAGATGAAAGTGGTCCTG 0.627 26 30 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31038928 31038928 + Missense_Mutation SNP A C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:31038928A>C uc002nsu.1 + 4 2540 c.2402A>C c.(2401-2403)CAC>CCC p.H801P ZNF536_uc010edd.1_Missense_Mutation_p.H801P NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 801 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TTAGAGCGACACCATCGGGAG 0.517 53 67 --- --- --- --- PASS WTIP 126374 broad.mit.edu 37 19 34981323 34981323 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:34981323A>T uc002nvm.2 + 2 710 c.710A>T c.(709-711)CAG>CTG p.Q237L NM_001080436 NP_001073905 Wilms tumor 1 interacting protein 0 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) GGAGCCCAGCAGGCGTGCCAG 0.592 11 106 --- --- --- --- PASS FFAR2 2867 broad.mit.edu 37 19 35940862 35940862 + Nonsense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:35940862C>A uc002nzg.2 + 2 326 c.246C>A c.(244-246)TGC>TGA p.C82* FFAR2_uc010eea.2_Nonsense_Mutation_p.C82* NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 82 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) AGGTCGTCTGCGCCCTCACGA 0.627 4 33 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41077929 41077929 + Missense_Mutation SNP T G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:41077929T>G uc002ony.2 + 34 7410 c.7324T>G c.(7324-7326)TGG>GGG p.W2442G SPTBN4_uc002onz.2_Missense_Mutation_p.W2442G|SPTBN4_uc010egx.2_Missense_Mutation_p.W1185G NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 2442 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(1)|skin(1) 5 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTCCAGGTCGTGGGTGAGCCT 0.567 10 640 --- --- --- --- PASS ZNF235 9310 broad.mit.edu 37 19 44792290 44792290 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:44792290C>T uc002oza.3 - 5 1401 c.1298G>A c.(1297-1299)TGT>TAT p.C433Y ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF235_uc002ozb.3_Missense_Mutation_p.C429Y|ZNF235_uc010xwx.1_Missense_Mutation_p.C347Y NM_004234 NP_004225 Q14590 ZN235_HUMAN zinc finger protein 93 homolog 433 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1) 3 Prostate(69;0.0352)|all_neural(266;0.116) ACAATCCCCACATTTATATGG 0.418 4 98 --- --- --- --- PASS SULT2A1 6822 broad.mit.edu 37 19 48389461 48389461 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:48389461G>C uc002phr.2 - 1 194 c.54C>G c.(52-54)TTC>TTG p.F18L NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 18 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) TTTCGGATCTGAAACCCATAG 0.428 75 87 --- --- --- --- PASS CCDC114 93233 broad.mit.edu 37 19 48800667 48800667 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:48800667C>T uc002pir.2 - 14 2262 c.1579G>A c.(1579-1581)GGC>AGC p.G527S CCDC114_uc002piq.2_Missense_Mutation_p.G336S|CCDC114_uc002pio.2_3'UTR NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 527 ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) GTACTGGAGCCGGCCCTCTGG 0.697 3 69 --- --- --- --- PASS FPR3 2359 broad.mit.edu 37 19 52327500 52327500 + Missense_Mutation SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:52327500A>G uc002pxt.1 + 2 683 c.499A>G c.(499-501)ATA>GTA p.I167V NM_002030 NP_002021 P25089 FPR3_HUMAN formyl peptide receptor-like 2 167 Extracellular (Potential). cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity lung(4)|breast(1)|skin(1) 6 CTGGACTACAATAAGTACTAC 0.458 53 121 --- --- --- --- PASS ZNF578 147660 broad.mit.edu 37 19 53007938 53007938 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:53007938G>C uc002pzp.3 + 5 338 c.94G>C c.(94-96)GAA>CAA p.E32Q NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 Error:Variant_position_missing_in_Q96N58_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) TGTGGCTATAGAATTCTCATT 0.448 17 142 --- --- --- --- PASS LILRA2 11027 broad.mit.edu 37 19 55085379 55085379 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:55085379G>C uc002qgg.3 + 1 123 c.34G>C c.(34-36)GGG>CGG p.G12R LILRA2_uc010ern.2_Missense_Mutation_p.G12R|LILRA2_uc002qgf.2_Missense_Mutation_p.G12R|LILRA2_uc010yfe.1_Missense_Mutation_p.G12R|LILRA2_uc010yff.1_Missense_Mutation_p.G12R|LILRA2_uc010ero.2_Missense_Mutation_p.G12R|LILRA2_uc010yfg.1_Missense_Mutation_p.G12R NM_001130917 NP_001124389 Q8N149 LIRA2_HUMAN leukocyte immunoglobulin-like receptor, 12 defense response integral to membrane antigen binding|receptor activity ovary(1) 1 GBM - Glioblastoma multiforme(193;0.0963) GATCTGTCTCGGTGAGATTTG 0.602 69 80 --- --- --- --- PASS NCR1 9437 broad.mit.edu 37 19 55418050 55418050 + Silent SNP A G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr19:55418050A>G uc002qib.2 + 3 278 c.240A>G c.(238-240)AAA>AAG p.K80K NCR1_uc002qic.2_Silent_p.K80K|NCR1_uc002qie.2_Silent_p.K80K|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 80 Ig-like 1.|Extracellular (Potential). cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) GGATTAACAAAGTCAAATTCT 0.522 6 88 --- --- --- --- PASS NSFL1C 55968 broad.mit.edu 37 20 1435635 1435635 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr20:1435635G>C uc002wfc.2 - 4 1369 c.421C>G c.(421-423)CCT>GCT p.P141A NSFL1C_uc002wfd.2_Missense_Mutation_p.P30A|NSFL1C_uc002wfe.2_Missense_Mutation_p.P141A|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_5'Flank NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a 141 chromosome|Golgi stack|nucleus lipid binding|protein binding 0 GTCTCTCCAGGGCTCTTGGTC 0.532 89 295 --- --- --- --- PASS ACSS1 84532 broad.mit.edu 37 20 24988512 24988512 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr20:24988512G>C uc002wub.2 - 14 2834 c.1956C>G c.(1954-1956)ATC>ATG p.I652M ACSS1_uc002wuc.2_Missense_Mutation_p.I650M|ACSS1_uc010gdc.2_Missense_Mutation_p.I447M|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Missense_Mutation_p.I569M NM_032501 NP_115890 Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 652 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding ovary(1)|skin(1) 2 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCTCACTAGTGATGATCTTCC 0.557 16 141 --- --- --- --- PASS KIAA1755 85449 broad.mit.edu 37 20 36870243 36870243 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr20:36870243G>T uc002xhy.1 - 3 562 c.290C>A c.(289-291)CCT>CAT p.P97H KIAA1755_uc002xhz.1_Missense_Mutation_p.P97H NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 97 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CAATAAGAGAGGGTTGAGGGG 0.562 17 207 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40080585 40080585 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr20:40080585C>T uc002xka.1 - 22 3582 c.3404G>A c.(3403-3405)CGT>CAT p.R1135H NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1135 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CAGGAGGGCACGGCAAATCAT 0.517 4 186 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61537362 61537362 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr20:61537362T>C uc002ydr.1 - 6 1729 c.1465A>G c.(1465-1467)AGT>GGT p.S489G DIDO1_uc002yds.1_Missense_Mutation_p.S489G|DIDO1_uc002ydt.1_Missense_Mutation_p.S489G|DIDO1_uc002ydu.1_Missense_Mutation_p.S489G|DIDO1_uc002ydv.1_Missense_Mutation_p.S489G|DIDO1_uc002ydw.1_Missense_Mutation_p.S489G|DIDO1_uc002ydx.1_Missense_Mutation_p.S489G|DIDO1_uc011aao.1_Missense_Mutation_p.S489G NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 489 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) AGTGCTTCACTCCGCGCAGGG 0.517 50 184 --- --- --- --- PASS PTK6 5753 broad.mit.edu 37 20 62165629 62165629 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr20:62165629C>G uc002yfg.2 - 3 432 c.392G>C c.(391-393)CGG>CCG p.R131P PTK6_uc011aay.1_Missense_Mutation_p.R30P|PTK6_uc011aaz.1_5'Flank|PTK6_uc011aba.1_3'UTR NM_005975 NP_005966 Q13882 PTK6_HUMAN PTK6 protein tyrosine kinase 6 131 SH2. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity p.R131L(1) stomach(1)|kidney(1) 2 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) CCCGGCACGCCGCCAGATCTT 0.692 4 26 --- --- --- --- PASS HLCS 3141 broad.mit.edu 37 21 38311131 38311131 + Splice_Site SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr21:38311131C>T uc010gnb.2 - 3 1253 c.52_splice c.e3+1 p.S18_splice HLCS_uc002yvs.2_Splice_Site_p.S18_splice|HLCS_uc010gnc.1_Splice_Site_p.S165_splice NM_000411 NP_000402 P50747 BPL1_HUMAN holocarboxylase synthetase cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding ovary(2)|breast(1)|kidney(1)|liver(1) 5 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) AAGTTACTTACACACAATCTT 0.264 39 55 --- --- --- --- PASS GGT5 2687 broad.mit.edu 37 22 24620982 24620982 + Silent SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr22:24620982G>A uc002zzo.3 - 11 2013 c.1596C>T c.(1594-1596)TAC>TAT p.Y532Y GGT5_uc002zzp.3_Silent_p.Y533Y|GGT5_uc002zzr.3_Silent_p.Y500Y|GGT5_uc002zzq.3_Silent_p.Y500Y|GGT5_uc011ajm.1_Silent_p.Y456Y NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 532 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 AGTTGGGCTCGTACTCCACAC 0.607 4 29 --- --- --- --- PASS GGT5 2687 broad.mit.edu 37 22 24621612 24621612 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr22:24621612G>A uc002zzo.3 - 9 1655 c.1238C>T c.(1237-1239)GCG>GTG p.A413V GGT5_uc002zzp.3_Missense_Mutation_p.A413V|GGT5_uc002zzr.3_Missense_Mutation_p.A381V|GGT5_uc002zzq.3_Missense_Mutation_p.A381V|GGT5_uc011ajm.1_Missense_Mutation_p.A336V NM_004121 NP_004112 P36269 GGT5_HUMAN gamma-glutamyltransferase 5 isoform b 413 Extracellular (Potential). glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process integral to membrane|plasma membrane acyltransferase activity|gamma-glutamyltransferase activity ovary(2)|skin(1) 3 ATACACCATCGCTCCAAAGCT 0.627 4 44 --- --- --- --- PASS PIWIL3 440822 broad.mit.edu 37 22 25145726 25145726 + Nonsense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr22:25145726T>A uc003abd.1 - 10 1567 c.1150A>T c.(1150-1152)AAA>TAA p.K384* PIWIL3_uc011ajx.1_Nonsense_Mutation_p.K275*|PIWIL3_uc011ajy.1_Nonsense_Mutation_p.K275*|PIWIL3_uc010gut.1_Nonsense_Mutation_p.K384* NM_001008496 NP_001008496 Q7Z3Z3 PIWL3_HUMAN piwi-like 3 384 PAZ. cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis cytoplasm RNA binding ovary(3)|central_nervous_system(1) 4 AGGCCCTTTTTCCATCTGCCC 0.468 10 68 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26164833 26164833 + Missense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr22:26164833A>T uc003abz.1 + 4 1200 c.950A>T c.(949-951)AAG>ATG p.K317M MYO18B_uc003aca.1_Missense_Mutation_p.K198M|MYO18B_uc010guy.1_Missense_Mutation_p.K198M|MYO18B_uc010guz.1_Missense_Mutation_p.K198M|MYO18B_uc011aka.1_Translation_Start_Site|MYO18B_uc011akb.1_5'Flank NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 317 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCTGGGAGAAAGTGGGGAGGT 0.532 5 39 --- --- --- --- PASS DEPDC5 9681 broad.mit.edu 37 22 32229905 32229905 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr22:32229905G>T uc003als.2 + 25 2251 c.2109G>T c.(2107-2109)ATG>ATT p.M703I DEPDC5_uc011als.1_Missense_Mutation_p.M625I|DEPDC5_uc011alu.1_Missense_Mutation_p.M703I|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.M703I|DEPDC5_uc003alu.2_Missense_Mutation_p.M143I|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alw.1_Missense_Mutation_p.M24I|DEPDC5_uc003alw.2_Missense_Mutation_p.M1I|DEPDC5_uc011alx.1_5'UTR|DEPDC5_uc011alt.1_Missense_Mutation_p.M597I NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 703 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 CCATAGGTATGAATCCTAGGA 0.448 125 293 --- --- --- --- PASS BPIL2 254240 broad.mit.edu 37 22 32831696 32831696 + Missense_Mutation SNP C T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr22:32831696C>T uc003amn.2 - 8 919 c.919G>A c.(919-921)GAA>AAA p.E307K BPIL2_uc010gwo.2_Missense_Mutation_p.E121K|BPIL2_uc011amb.1_Missense_Mutation_p.E31K NM_174932 NP_777592 Q8NFQ6 BPIL2_HUMAN bactericidal/permeability-increasing 307 extracellular region lipopolysaccharide binding|phospholipid binding ovary(1)|skin(1) 2 CTCACCTCTTCGGTGGAGAGA 0.418 6 74 --- --- --- --- PASS MXRA5 25878 broad.mit.edu 37 X 3238837 3238837 + Missense_Mutation SNP G T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:3238837G>T uc004crg.3 - 5 5046 c.4889C>A c.(4888-4890)TCC>TAC p.S1630Y NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1630 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) AAAGTATCTGGAAGCGCTTTG 0.473 127 62 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31198492 31198492 + Missense_Mutation SNP T C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:31198492T>C uc004dda.1 - 69 10325 c.10081A>G c.(10081-10083)ACT>GCT p.T3361A DMD_uc004dcq.1_Missense_Mutation_p.T632A|DMD_uc004dcr.1_Missense_Mutation_p.T901A|DMD_uc004dcs.1_Missense_Mutation_p.T901A|DMD_uc004dct.1_Missense_Mutation_p.T901A|DMD_uc004dcu.1_Missense_Mutation_p.T901A|DMD_uc004dcv.1_Missense_Mutation_p.T901A|DMD_uc004dcw.2_Missense_Mutation_p.T2017A|DMD_uc004dcx.2_Missense_Mutation_p.T2020A|DMD_uc004dcz.2_Missense_Mutation_p.T3238A|DMD_uc004dcy.1_Missense_Mutation_p.T3357A|DMD_uc004ddb.1_Missense_Mutation_p.T3353A|DMD_uc004dcm.1_Missense_Mutation_p.T293A|DMD_uc004dcn.1_Missense_Mutation_p.T293A|DMD_uc004dco.1_Missense_Mutation_p.T293A|DMD_uc004dcp.1_Missense_Mutation_p.T293A|DMD_uc011mkb.1_Missense_Mutation_p.T293A|DMD_uc010ngm.2_Missense_Mutation_p.T293A NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 3361 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTTACCGGAGTGCAATATTCC 0.408 3 71 --- --- --- --- PASS HEPH 9843 broad.mit.edu 37 X 65423283 65423283 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:65423283C>A uc011moz.1 + 13 2224 c.2164C>A c.(2164-2166)CCT>ACT p.P722T HEPH_uc004dwn.2_Missense_Mutation_p.P722T|HEPH_uc004dwo.2_Missense_Mutation_p.P452T|HEPH_uc010nkr.2_Missense_Mutation_p.P530T|HEPH_uc011mpa.1_Missense_Mutation_p.P722T|HEPH_uc010nks.2_Missense_Mutation_p.P11T NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 719 Extracellular (Potential). cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CTCCCAGTGTCCTGGCCACCA 0.522 24 20 --- --- --- --- PASS TAF1 6872 broad.mit.edu 37 X 70598702 70598702 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:70598702G>A uc004dzu.3 + 8 1229 c.1178G>A c.(1177-1179)GGC>GAC p.G393D BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Missense_Mutation_p.G414D NM_138923 NP_620278 P21675 TAF1_HUMAN TBP-associated factor 1 isoform 2 393 Protein kinase 1. G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1) 17 Renal(35;0.156) all_lung(315;0.000321) GAAAACAATGGCACTGATCTT 0.438 68 42 --- --- --- --- PASS NAP1L2 4674 broad.mit.edu 37 X 72433991 72433991 + Nonsense_Mutation SNP A T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:72433991A>T uc004ebi.2 - 1 694 c.338T>A c.(337-339)TTA>TAA p.L113* NAP1L2_uc011mqj.1_5'UTR NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 113 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) TTTAAGGGCTAACACACGGTA 0.403 52 25 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73072079 73072079 + RNA SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:73072079G>A uc004ebm.1 - 1 c.510C>T NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 CCGATACCCCGATGGGCTAAG 0.478 5 17 --- --- --- --- PASS MAGEE2 139599 broad.mit.edu 37 X 75004382 75004382 + Missense_Mutation SNP C G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:75004382C>G uc004ecj.1 - 1 690 c.505G>C c.(505-507)GCG>CCG p.A169P NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 169 MAGE 1. ovary(1)|skin(1) 2 AGGGACTCCGCTATCCTATCG 0.522 3 20 --- --- --- --- PASS HDX 139324 broad.mit.edu 37 X 83724452 83724452 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:83724452G>C uc004eek.1 - 3 388 c.279C>G c.(277-279)AGC>AGG p.S93R HDX_uc011mqv.1_Missense_Mutation_p.S93R|HDX_uc004eel.1_Missense_Mutation_p.S35R NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 93 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 AAGACTGCTGGCTTGAGGGTC 0.428 6 66 --- --- --- --- PASS NXF5 55998 broad.mit.edu 37 X 101095855 101095855 + Missense_Mutation SNP T A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:101095855T>A uc011mrk.1 - 9 853 c.493A>T c.(493-495)AAC>TAC p.N165Y NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_Intron|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 165 LRR 1. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 TTGCACAAGTTCAAAGACAAC 0.478 40 26 --- --- --- --- PASS GPRASP2 114928 broad.mit.edu 37 X 101970974 101970974 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:101970974G>C uc004ejk.2 + 4 2511 c.1177G>C c.(1177-1179)GCA>CCA p.A393P GPRASP2_uc004ejl.2_Missense_Mutation_p.A393P|GPRASP2_uc004ejm.2_Missense_Mutation_p.A393P|GPRASP2_uc011mrp.1_5'Flank NM_138437 NP_612446 Q96D09 GASP2_HUMAN G protein-coupled receptor associated sorting 393 cytoplasm protein binding ovary(1) 1 CTGGTTCTGGGCAGAAAAAGA 0.527 6 84 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122532572 122532572 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:122532572G>A uc004etq.3 + 8 1291 c.998G>A c.(997-999)CGG>CAG p.R333Q GRIA3_uc004etr.3_Missense_Mutation_p.R333Q|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.R317Q NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 333 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) GATGTGTCCCGGAGAGGAAGT 0.483 7 39 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 124097425 124097425 + Nonsense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:124097425G>A uc004euj.2 - 1 242 c.178C>T c.(178-180)CAG>TAG p.Q60* ODZ1_uc011muj.1_Nonsense_Mutation_p.Q60*|ODZ1_uc010nqy.2_Nonsense_Mutation_p.Q60* NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 60 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TTTCTACTCTGGCTATTGTAA 0.373 117 77 --- --- --- --- PASS USP26 83844 broad.mit.edu 37 X 132160305 132160305 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:132160305G>C uc010nrm.1 - 6 2414 c.1944C>G c.(1942-1944)TTC>TTG p.F648L USP26_uc011mvf.1_Missense_Mutation_p.F648L NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 648 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) CTTTTTCAATGAATGCTCGAT 0.433 11 82 --- --- --- --- PASS GPR112 139378 broad.mit.edu 37 X 135429362 135429362 + Missense_Mutation SNP C A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:135429362C>A uc004ezu.1 + 6 3788 c.3497C>A c.(3496-3498)TCT>TAT p.S1166Y GPR112_uc010nsb.1_Missense_Mutation_p.S961Y|GPR112_uc010nsc.1_Missense_Mutation_p.S933Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1166 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCAACTACGTCTACACCAGAA 0.478 119 45 --- --- --- --- PASS CXorf66 347487 broad.mit.edu 37 X 139047576 139047576 + Missense_Mutation SNP G C C TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:139047576G>C uc004fbb.2 - 1 102 c.80C>G c.(79-81)TCT>TGT p.S27C NM_001013403 NP_001013421 Q5JRM2 CX066_HUMAN hypothetical protein LOC347487 precursor 27 Extracellular (Potential). integral to membrane 0 ACCTGTAGTAGAAGATCCATT 0.328 18 124 --- --- --- --- PASS GDI1 2664 broad.mit.edu 37 X 153669525 153669525 + Missense_Mutation SNP G A A TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chrX:153669525G>A uc004fli.3 + 7 1144 c.802G>A c.(802-804)GTG>ATG p.V268M GDI1_uc011mzo.1_3'UTR|GDI1_uc004flj.2_5'Flank|FAM50A_uc004fll.3_5'Flank NM_001493 NP_001484 P31150 GDIA_HUMAN GDP dissociation inhibitor 1 268 protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|midbody GTPase activator activity|protein binding 0 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGTGGTGGGCGTGAAGTCTGA 0.557 11 68 --- --- --- --- PASS GPR124 25960 broad.mit.edu 37 8 37699191 37699192 + Frame_Shift_Ins INS - G G TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr8:37699191_37699192insG uc003xkj.2 + 19 3698_3699 c.3335_3336insG c.(3334-3336)GAGfs p.E1112fs GPR124_uc010lvy.2_Frame_Shift_Ins_p.E895fs NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 1112 Cytoplasmic (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GTGTTCGGGGAGGGCCCCCCCT 0.559 4 2 --- --- --- --- MLL2 8085 broad.mit.edu 37 12 49436428 49436428 + Frame_Shift_Del DEL C - - TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:49436428delC uc001rta.3 - 27 5783 c.5783delG c.(5782-5784)GGTfs p.G1928fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1928 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AGGGAGTCCACCTACAAGACG 0.552 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 55 54 --- --- --- --- PLBD2 196463 broad.mit.edu 37 12 113824846 113824846 + Frame_Shift_Del DEL G - - TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr12:113824846delG uc001tve.2 + 10 1426 c.1391delG c.(1390-1392)CGGfs p.R464fs PLBD2_uc001tvf.2_Frame_Shift_Del_p.R432fs NM_173542 NP_775813 Q8NHP8 PLBL2_HUMAN phospholipase B domain containing 2 isoform 1 464 lipid catabolic process lysosomal lumen hydrolase activity 0 ATCTTCCGGCGGAACCAGTCA 0.602 136 62 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578500 7578501 + Frame_Shift_Ins INS - T T TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:7578500_7578501insT uc002gim.2 - 5 623_624 c.429_430insA c.(427-432)GTGCAGfs p.V143fs TP53_uc002gig.1_Frame_Shift_Ins_p.V143fs|TP53_uc002gih.2_Frame_Shift_Ins_p.V143fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.V11fs|TP53_uc010cng.1_Frame_Shift_Ins_p.V11fs|TP53_uc002gii.1_Frame_Shift_Ins_p.V11fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.V143fs|TP53_uc010cni.1_Frame_Shift_Ins_p.V143fs|TP53_uc002gij.2_Frame_Shift_Ins_p.V143fs|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Frame_Shift_Ins_p.V50fs|TP53_uc002gio.2_Frame_Shift_Ins_p.V11fs|TP53_uc010vug.1_Frame_Shift_Ins_p.V104fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 143_144 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (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.Q144*(29)|p.V143M(16)|p.V143A(14)|p.0?(7)|p.V143L(4)|p.V143E(4)|p.Q144fs*26(3)|p.Q144K(2)|p.V143V(2)|p.V143fs*27(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.V143fs*29(1)|p.Q144del(1)|p.Q144fs*32(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.P142_Q144delPVQ(1)|p.Q144fs*4(1)|p.V143_S149del(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) ACCCACAGCTGCACAGGGCAGG 0.594 111 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) 28 39 --- --- --- --- MYH8 4626 broad.mit.edu 37 17 10296178 10296178 + Frame_Shift_Del DEL C - - TCGA-39-5036-01A-01D-1441-08 TCGA-39-5036-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx a1aa5fba-f179-4777-8d49-345a366d12fa 26d2b643-1b11-4be8-a2f2-fb8855f4768b g.chr17:10296178delC uc002gmm.2 - 37 5528 c.5433delG c.(5431-5433)GGGfs p.G1811fs uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1811 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TCTGCTTCTTCCCACCCTTCA 0.567 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 85 77 --- --- --- ---