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 SH2D5 400745 broad.mit.edu 37 1 21051069 21051069 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:21051069G>A uc001bdt.1 - 5 823 c.198C>T c.(196-198)CAC>CAT p.H66H SH2D5_uc009vpy.1_Silent_p.H150H|SH2D5_uc001bdu.1_RNA NM_001103160 NP_001096630 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 isoform 2 66 0 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCTCCTCAGGGTGCTGCAAGA 0.682 8 7 --- --- --- --- PASS RIMKLA 284716 broad.mit.edu 37 1 42880318 42880318 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:42880318T>A uc001chi.2 + 5 987 c.849T>A c.(847-849)TTT>TTA p.F283L NM_173642 NP_775913 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family 283 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 TCCTAGCCTTTGACCAGGCAT 0.498 16 201 --- --- --- --- PASS EPS15 2060 broad.mit.edu 37 1 51946954 51946954 + Nonsense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:51946954G>C uc001csq.1 - 2 158 c.66C>G c.(64-66)TAC>TAG p.Y22* EPS15_uc009vyz.1_Nonsense_Mutation_p.Y22* NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 22 EH 1. cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 CCTGTCTATAGTATTTTTCAT 0.264 T MLL ALL 11 6 --- --- --- --- PASS SGIP1 84251 broad.mit.edu 37 1 67145430 67145430 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:67145430G>A uc001dcr.2 + 14 1026 c.809G>A c.(808-810)GGA>GAA p.G270E SGIP1_uc010opd.1_Missense_Mutation_p.G37E|SGIP1_uc001dcs.2_Missense_Mutation_p.G37E|SGIP1_uc001dct.2_Missense_Mutation_p.G37E|uc010ope.1_5'Flank|SGIP1_uc009wat.2_Missense_Mutation_p.G37E NM_032291 NP_115667 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting 270 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding ovary(3) 3 TTAACAATTGGACCAGGTACG 0.468 25 24 --- --- --- --- PASS LRRC8D 55144 broad.mit.edu 37 1 90400336 90400336 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:90400336A>G uc001dnm.2 + 3 2134 c.1709A>G c.(1708-1710)AAT>AGT p.N570S LRRC8D_uc001dnn.2_Missense_Mutation_p.N570S NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 570 LRR 3. integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TTAATAGGCAATTTGAACTCT 0.428 31 11 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103453203 103453203 + Nonsense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:103453203G>A uc001dul.2 - 30 2806 c.2488C>T c.(2488-2490)CAA>TAA p.Q830* COL11A1_uc001duk.2_Silent_p.V20V|COL11A1_uc001dum.2_Nonsense_Mutation_p.Q842*|COL11A1_uc001dun.2_Nonsense_Mutation_p.Q791*|COL11A1_uc009weh.2_Nonsense_Mutation_p.Q714* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 830 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCTCCTGCTTGACCTGAAGGA 0.463 13 34 --- --- --- --- PASS KCNA2 3737 broad.mit.edu 37 1 111147297 111147297 + Silent SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:111147297C>G uc001dzu.2 - 2 604 c.108G>C c.(106-108)GTG>GTC p.V36V KCNA2_uc009wfv.1_Silent_p.V36V|KCNA2_uc009wfw.2_Silent_p.V36V NM_004974 NP_004965 P16389 KCNA2_HUMAN potassium voltage-gated channel, shaker-related 36 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(1) 1 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) AGATGTTGATCACCACCCTCT 0.582 44 197 --- --- --- --- PASS NOTCH2 4853 broad.mit.edu 37 1 120468395 120468395 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:120468395T>A uc001eik.2 - 25 4300 c.4044A>T c.(4042-4044)CAA>CAT p.Q1348H NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 1348 Extracellular (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TACATTTCACTTGTCCACAGC 0.547 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome 15 13 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158623135 158623135 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:158623135G>A uc001fst.1 - 22 3316 c.3117C>T c.(3115-3117)TTC>TTT p.F1039F NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1039 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGAGCATCGGGAACTCATCGT 0.562 19 64 --- --- --- --- PASS AIM2 9447 broad.mit.edu 37 1 159035952 159035952 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:159035952G>A uc001ftj.1 - 4 809 c.564C>T c.(562-564)TTC>TTT p.F188F NM_004833 NP_004824 O14862 AIM2_HUMAN absent in melanoma 2 188 HIN-200. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus ovary(2)|pancreas(1) 3 all_hematologic(112;0.0429) CTTTTACAAAGAAGAATTCCT 0.363 35 134 --- --- --- --- PASS IGSF8 93185 broad.mit.edu 37 1 160062180 160062180 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:160062180C>T uc001fva.2 - 5 1663 c.1618G>A c.(1618-1620)GGC>AGC p.G540S IGSF8_uc001fuz.2_Missense_Mutation_p.G540S|IGSF8_uc009wtf.2_Missense_Mutation_p.G540S NM_052868 NP_443100 Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 540 Ig-like C2-type 4.|Extracellular (Potential). cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding 0 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TGGTACACGCCTTCATCCTCG 0.662 54 126 --- --- --- --- PASS RABGAP1L 9910 broad.mit.edu 37 1 174190149 174190149 + Nonsense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:174190149G>T uc001gjx.2 + 3 373 c.178G>T c.(178-180)GAA>TAA p.E60* RABGAP1L_uc009wwq.1_Nonsense_Mutation_p.E60*|RABGAP1L_uc001gjw.2_Nonsense_Mutation_p.E23* NM_014857 NP_055672 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like isoform A 60 regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity ovary(2)|lung(1)|kidney(1) 4 AAAAGCCATGGAAGAGATTTT 0.373 16 77 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175046710 175046710 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:175046710G>T uc001gkl.1 + 2 269 c.156G>T c.(154-156)AAG>AAT p.K52N TNN_uc010pmx.1_Missense_Mutation_p.K52N NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 52 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) ATGTGCCCAAGTCTGCCTTGG 0.612 16 67 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190067750 190067750 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:190067750G>A uc001gse.1 - 8 1931 c.1699C>T c.(1699-1701)CCA>TCA p.P567S FAM5C_uc010pot.1_Missense_Mutation_p.P465S NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 567 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GCCAACACTGGCTCCAAGGTG 0.458 67 103 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196311207 196311207 + Splice_Site SNP A C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:196311207A>C uc001gtd.1 - 15 1613 c.1553_splice c.e15+1 p.K518_splice KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Intron|KCNT2_uc001gtf.1_Splice_Site_p.K518_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.2_Splice_Site_p.K518_splice|KCNT2_uc001gth.1_Intron NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 GCAGAAACATACTTTTTGTGT 0.318 10 30 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196342287 196342287 + Silent SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:196342287A>G uc001gtd.1 - 14 1446 c.1386T>C c.(1384-1386)GTT>GTC p.V462V KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.V462V|KCNT2_uc001gtf.1_Silent_p.V462V|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.V462V|KCNT2_uc009wyv.1_Silent_p.V437V NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 462 Cytoplasmic (Potential).|RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 TAGAGGTATGAACCAGTAGTG 0.299 4 21 --- --- --- --- PASS CFHR4 10877 broad.mit.edu 37 1 196884133 196884133 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:196884133A>G uc001gto.2 + 5 733 c.664A>G c.(664-666)ACC>GCC p.T222A CFHR4_uc009wyy.2_Missense_Mutation_p.T468A|CFHR4_uc001gtp.2_Missense_Mutation_p.T469A NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 222 Sushi 4. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 CAATGGTGATACCACCTCCTT 0.383 15 52 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207646438 207646438 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:207646438A>T uc001hfw.2 + 10 1986 c.1892A>T c.(1891-1893)TAT>TTT p.Y631F CR2_uc001hfv.2_Missense_Mutation_p.Y631F|CR2_uc009xch.2_Missense_Mutation_p.Y631F|CR2_uc009xci.1_Missense_Mutation_p.Y116F NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 631 Sushi 10.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TTCAAGTGTTATAGTGGATTT 0.403 32 38 --- --- --- --- PASS CR2 1380 broad.mit.edu 37 1 207646439 207646439 + Nonsense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:207646439T>A uc001hfw.2 + 10 1987 c.1893T>A c.(1891-1893)TAT>TAA p.Y631* CR2_uc001hfv.2_Nonsense_Mutation_p.Y631*|CR2_uc009xch.2_Nonsense_Mutation_p.Y631*|CR2_uc009xci.1_Nonsense_Mutation_p.Y116* NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 631 Sushi 10.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TCAAGTGTTATAGTGGATTTA 0.398 33 36 --- --- --- --- PASS RRP15 51018 broad.mit.edu 37 1 218458671 218458671 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:218458671G>T uc001hlj.2 + 1 43 c.13G>T c.(13-15)GCT>TCT p.A5S NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog 5 mitochondrion|nucleolus protein binding 0 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) GGCAGCCGCCGCTCCGGACTC 0.542 8 32 --- --- --- --- PASS NLRP3 114548 broad.mit.edu 37 1 247607404 247607404 + Nonsense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:247607404G>T uc001icr.2 + 9 2938 c.2800G>T c.(2800-2802)GAG>TAG p.E934* NLRP3_uc001ics.2_Nonsense_Mutation_p.E877*|NLRP3_uc001icu.2_Nonsense_Mutation_p.E934*|NLRP3_uc001icw.2_Nonsense_Mutation_p.E877*|NLRP3_uc001icv.2_Nonsense_Mutation_p.E820*|NLRP3_uc010pyw.1_Nonsense_Mutation_p.E912* NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 934 detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ACTACTCTGTGAGGGACTCTT 0.507 28 76 --- --- --- --- PASS OR2T8 343172 broad.mit.edu 37 1 248085113 248085113 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:248085113C>A uc010pzc.1 + 1 794 c.794C>A c.(793-795)TCC>TAC p.S265Y NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCCACAGGTCCACTAACCAC 0.493 35 94 --- --- --- --- PASS OR2T34 127068 broad.mit.edu 37 1 248737429 248737429 + Silent SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr1:248737429G>T uc001iep.1 - 1 630 c.630C>A c.(628-630)CTC>CTA p.L210L NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGAGAAGCATGAGGATGCAGC 0.542 91 383 --- --- --- --- PASS CMPK2 129607 broad.mit.edu 37 2 7001388 7001388 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:7001388A>G uc002qyo.2 - 3 1028 c.919T>C c.(919-921)TAC>CAC p.Y307H CMPK2_uc010yis.1_Missense_Mutation_p.Y307H|CMPK2_uc010ewv.2_Missense_Mutation_p.Y307H NM_207315 NP_997198 Q5EBM0 CMPK2_HUMAN UMP-CMP kinase 2 precursor 307 dTDP biosynthetic process mitochondrion ATP binding|cytidylate kinase activity|thymidylate kinase activity|UMP kinase activity 0 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCCAAAGAGTAAAAAGCTCTT 0.408 17 46 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21233009 21233009 + Missense_Mutation SNP C A A rs146333152 byFrequency TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:21233009C>A uc002red.2 - 26 6859 c.6731G>T c.(6730-6732)AGT>ATT p.S2244I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 2244 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGATGCAGTACTACTTCCACT 0.323 11 22 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21236165 21236165 + Silent SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:21236165A>G uc002red.2 - 25 4211 c.4083T>C c.(4081-4083)AAT>AAC p.N1361N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1361 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGCTGTAGACATTCGTGGAGA 0.512 3 171 --- --- --- --- PASS CGREF1 10669 broad.mit.edu 37 2 27327225 27327225 + Silent SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:27327225A>G uc010eys.1 - 2 152 c.10T>C c.(10-12)TTG>CTG p.L4L CGREF1_uc010ylf.1_Intron|CGREF1_uc002rip.1_5'UTR|CGREF1_uc002riq.2_Silent_p.L4L|CGREF1_uc010eyr.1_Silent_p.L126L|CGREF1_uc002rir.1_Silent_p.L4L|CGREF1_uc002ris.2_Silent_p.L4L NM_006569 NP_006560 Q99674 CGRE1_HUMAN cell growth regulator with EF-hand domain 1 4 cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress extracellular region calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTCATCGTCAAAGGTAACATC 0.562 23 36 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32773076 32773076 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:32773076C>T uc010ezu.2 + 64 13104 c.12970C>T c.(12970-12972)CTG>TTG p.L4324L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 4324 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TACCTGCCTTCTGCAGGTATA 0.368 9 26 --- --- --- --- PASS TTC27 55622 broad.mit.edu 37 2 32855589 32855589 + Splice_Site SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:32855589G>T uc002rom.2 + 2 320 c.89_splice c.e2-1 p.E30_splice TTC27_uc010ymx.1_Splice_Site NM_017735 NP_060205 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 protein binding central_nervous_system(1) 1 TTATATTACAGAGAGTGGATC 0.303 10 34 --- --- --- --- PASS OTX1 5013 broad.mit.edu 37 2 63283220 63283220 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:63283220C>T uc002scd.2 + 5 1082 c.834C>T c.(832-834)CAC>CAT p.H278H OTX1_uc010ypt.1_Silent_p.H212H NM_014562 NP_055377 P32242 OTX1_HUMAN orthodenticle homeobox 1 278 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(2) 2 Lung NSC(7;0.121)|all_lung(7;0.211) ACCATCATCACCACCCACATG 0.537 43 201 --- --- --- --- PASS PROKR1 10887 broad.mit.edu 37 2 68882195 68882195 + Silent SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:68882195G>T uc010yqj.1 + 2 669 c.669G>T c.(667-669)GTG>GTT p.V223V PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 223 Extracellular (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 TCTGGCCTGTGGACCAGCAGC 0.552 38 156 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73635753 73635753 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:73635753G>T uc002sje.1 + 3 442 c.331G>T c.(331-333)GTT>TTT p.V111F ALMS1_uc002sjf.1_Intron NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 110 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TTTTCAGATTGTTCCATTGAC 0.269 3 23 --- --- --- --- PASS RETSAT 54884 broad.mit.edu 37 2 85571285 85571285 + Missense_Mutation SNP C T T rs41289947 byFrequency TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:85571285C>T uc002spd.2 - 9 1561 c.1370G>A c.(1369-1371)CGG>CAG p.R457Q RETSAT_uc010fge.2_Intron|RETSAT_uc010ysm.1_Missense_Mutation_p.R396Q|RETSAT_uc010fgf.2_Missense_Mutation_p.R248Q NM_017750 NP_060220 Q6NUM9 RETST_HUMAN all-trans-13,14-dihydroretinol saturase 457 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity ovary(2) 2 Vitamin A(DB00162) CATGGTGGACCGGCCTGGGGA 0.612 52 87 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179644760 179644760 + Silent SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:179644760A>G uc010zfg.1 - 22 3920 c.3696T>C c.(3694-3696)GAT>GAC p.D1232D TTN_uc010zfh.1_Silent_p.D1186D|TTN_uc010zfi.1_Silent_p.D1186D|TTN_uc010zfj.1_Silent_p.D1186D|TTN_uc002unb.2_Silent_p.D1232D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1232 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) CCACTACAGTATCTTTGGCCA 0.279 25 20 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198948702 198948702 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:198948702A>G uc010fsp.2 + 2 752 c.461A>G c.(460-462)GAG>GGG p.E154G PLCL1_uc002uuv.3_Missense_Mutation_p.E75G NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 154 PH.|Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) AAAGACCTCGAGAAAGCCAAG 0.443 38 35 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198948753 198948753 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:198948753A>T uc010fsp.2 + 2 803 c.512A>T c.(511-513)AAC>ATC p.N171I PLCL1_uc002uuv.3_Missense_Mutation_p.N92I NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 171 PH.|Interaction with PPP1C. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CTGGGGAAAAACACGGAAACA 0.458 24 88 --- --- --- --- PASS STK11IP 114790 broad.mit.edu 37 2 220462644 220462644 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:220462644C>T uc002vml.2 + 1 49 c.6C>T c.(4-6)TTC>TTT p.F2F STK11IP_uc010zlj.1_5'UTR|STK11IP_uc010zlk.1_5'UTR|STK11IP_uc010zll.1_5'UTR|STK11IP_uc002vmm.1_5'Flank NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 2 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGGGGAGGTTCGGTATGTCTG 0.572 OREG0003993 type=REGULATORY REGION|Gene=STK11IP|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 24 --- --- --- --- PASS VHL 7428 broad.mit.edu 37 3 10191556 10191556 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:10191556G>A uc003bvc.2 + 3 762 c.549G>A c.(547-549)TCG>TCA p.S183S VHL_uc003bvd.2_Silent_p.S142S NM_000551 NP_000542 P40337 VHL_HUMAN von Hippel-Lindau tumor suppressor isoform 1 183 anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus protein binding|transcription factor binding p.S183*(6)|p.S183fs*19(1) kidney(1273)|soft_tissue(24)|adrenal_gland(15)|large_intestine(13)|pancreas(5)|endometrium(4)|thyroid(3)|upper_aerodigestive_tract(3)|central_nervous_system(2)|lung(2)|pleura(1)|paratesticular_tissues(1) 1346 Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569) TCGTCAGGTCGCTCTACGAAG 0.512 1 D|Mis|N|F|S renal|hemangioma|pheochromocytoma renal|hemangioma|pheochromocytoma von_Hippel-Lindau_disease|Chuvash_Polycythemia_|Pheochromocytoma_(Adrenal)_Familial 20 12 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36899190 36899190 + Missense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:36899190G>C uc003cgj.2 - 3 543 c.241C>G c.(241-243)CAC>GAC p.H81D NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 631 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TGAGATGTGTGACCAGGGGCA 0.582 8 128 --- --- --- --- PASS CCBP2 1238 broad.mit.edu 37 3 42906283 42906283 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:42906283G>T uc003cme.2 + 3 468 c.289G>T c.(289-291)GTG>TTG p.V97L CCBP2_uc003cmd.1_Missense_Mutation_p.V97L|CCBP2_uc003cmf.2_Missense_Mutation_p.V97L|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 97 Helical; Name=2; (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) TCTGTTTCTGGTGACACTGCC 0.507 95 57 --- --- --- --- PASS ZNF662 389114 broad.mit.edu 37 3 42956129 42956129 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:42956129G>T uc003cmi.2 + 5 916 c.564G>T c.(562-564)GAG>GAT p.E188D ZNF662_uc003cmk.2_Missense_Mutation_p.E214D|ZNF662_uc003cmj.2_Missense_Mutation_p.E80D NM_207404 NP_997287 Q6ZS27 ZN662_HUMAN zinc finger protein 662 isoform 1 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.217) TTCTAAATGAGCAAATATTCT 0.363 16 20 --- --- --- --- PASS FBXW12 285231 broad.mit.edu 37 3 48420927 48420927 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:48420927T>C uc003csr.2 + 7 839 c.653T>C c.(652-654)CTG>CCG p.L218P FBXW12_uc010hjv.2_Missense_Mutation_p.L199P|FBXW12_uc003css.2_Missense_Mutation_p.L148P|FBXW12_uc010hjw.2_Missense_Mutation_p.L117P NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 isoform 218 WD 3. 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACATTTACACTGCCTGGGTTA 0.418 120 89 --- --- --- --- PASS USP4 7375 broad.mit.edu 37 3 49318254 49318254 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:49318254C>T uc003cwq.2 - 20 2646 c.2567G>A c.(2566-2568)TGT>TAT p.C856Y USP4_uc003cwo.2_Missense_Mutation_p.C568Y|USP4_uc003cwp.2_Missense_Mutation_p.C586Y|USP4_uc003cwr.2_Missense_Mutation_p.C809Y NM_003363 NP_003354 Q13107 UBP4_HUMAN ubiquitin specific protease 4 isoform a 856 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|urinary_tract(1)|lung(1) 4 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) TGACAGGTTACAGACAAACTC 0.438 17 29 --- --- --- --- PASS PROS1 5627 broad.mit.edu 37 3 93611872 93611872 + Missense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:93611872G>C uc003drb.3 - 10 1401 c.1060C>G c.(1060-1062)CTT>GTT p.L354V PROS1_uc010hoo.2_Missense_Mutation_p.L223V|PROS1_uc003dqz.3_Missense_Mutation_p.L223V NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 354 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CCACCACGAAGTGCAATCAGG 0.398 18 35 --- --- --- --- PASS TBC1D23 55773 broad.mit.edu 37 3 100039691 100039691 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:100039691A>T uc003dtt.2 + 18 2071 c.1894A>T c.(1894-1896)ATA>TTA p.I632L TBC1D23_uc003dts.2_Missense_Mutation_p.I617L|TBC1D23_uc003dtu.2_Missense_Mutation_p.I63L NM_018309 NP_060779 Q9NUY8 TBC23_HUMAN TBC1 domain family, member 23 632 intracellular Rab GTPase activator activity ovary(1)|liver(1) 2 ATTGGCTTATATACAGTCTCG 0.353 16 23 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112357078 112357078 + Missense_Mutation SNP C A A rs145200206 byFrequency TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:112357078C>A uc003dzf.2 - 2 1893 c.1675G>T c.(1675-1677)GCA>TCA p.A559S CCDC80_uc011bhv.1_Missense_Mutation_p.A559S|CCDC80_uc003dzg.2_Missense_Mutation_p.A559S|CCDC80_uc003dzh.1_Missense_Mutation_p.A559S NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 559 Lys-rich. ovary(2) 2 aacttgtctgcgttctcattc 0.164 16 59 --- --- --- --- PASS POPDC2 64091 broad.mit.edu 37 3 119367437 119367437 + Nonsense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:119367437G>A uc003ecx.1 - 3 813 c.679C>T c.(679-681)CGA>TGA p.R227* POPDC2_uc010hqw.1_Nonsense_Mutation_p.R227*|POPDC2_uc003ecy.1_Nonsense_Mutation_p.R45* NM_022135 NP_071418 Q9HBU9 POPD2_HUMAN popeye protein 2 227 integral to membrane central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.242) GAGATGTATCGCTCTTTGGTC 0.507 14 57 --- --- --- --- PASS CCDC37 348807 broad.mit.edu 37 3 126152023 126152023 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:126152023C>T uc003eiu.1 + 14 1497 c.1398C>T c.(1396-1398)TTC>TTT p.F466F CCDC37_uc010hsg.1_Silent_p.F467F NM_182628 NP_872434 Q494V2 CCD37_HUMAN coiled-coil domain containing 37 466 ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.166) TCTTCCACTTCGGCGAGTACA 0.597 5 216 --- --- --- --- PASS PSMD2 5708 broad.mit.edu 37 3 184020241 184020241 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:184020241C>T uc003fnn.1 + 6 821 c.788C>T c.(787-789)CCT>CTT p.P263L PSMD2_uc011brj.1_Missense_Mutation_p.P104L|PSMD2_uc011brk.1_Missense_Mutation_p.P133L NM_002808 NP_002799 Q13200 PSMD2_HUMAN proteasome 26S non-ATPase subunit 2 263 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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding 0 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) AGCCGCTTCCCTGAAGCTCTG 0.478 121 74 --- --- --- --- PASS TBCCD1 55171 broad.mit.edu 37 3 186272063 186272063 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:186272063C>T uc003fqg.2 - 6 1653 c.1524G>A c.(1522-1524)GTG>GTA p.V508V TBCCD1_uc011bry.1_Silent_p.V508V|TBCCD1_uc003fqh.2_Silent_p.V412V NM_018138 NP_060608 Q9NVR7 TBCC1_HUMAN TBCC domain containing 1 508 cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape spindle pole centrosome binding large_intestine(1)|ovary(1) 2 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.3e-21) GBM - Glioblastoma multiforme(93;0.0474) GAGCCTCCTTCACAGTTTTCT 0.403 170 125 --- --- --- --- PASS ACAP2 23527 broad.mit.edu 37 3 195017976 195017976 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:195017976C>T uc003fun.3 - 16 1671 c.1430G>A c.(1429-1431)CGA>CAA p.R477Q NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 477 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 TTCATAAACTCGATTTATAAC 0.308 6 49 --- --- --- --- PASS ZNF718 255403 broad.mit.edu 37 4 59997 59997 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:59997A>T uc003fzt.3 + 7 310 c.177A>T c.(175-177)AGA>AGT p.R59S ZNF595_uc003fzu.1_RNA|ZNF595_uc010iay.1_RNA|ZNF595_uc003fzv.1_Silent_p.I59I|ZNF595_uc011bus.1_Intron|ZNF595_uc011but.1_Intron NM_001039127 NP_001034216 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 59 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TGGAGCAAATAAAAGAGCCCT 0.453 4 62 --- --- --- --- PASS EVC2 132884 broad.mit.edu 37 4 5577977 5577977 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:5577977G>T uc003gij.2 - 18 3316 c.3262C>A c.(3262-3264)CAT>AAT p.H1088N EVC2_uc011bwb.1_Missense_Mutation_p.H528N|EVC2_uc003gik.2_Missense_Mutation_p.H1008N NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 1088 Potential. integral to membrane large_intestine(3)|ovary(2) 5 CACTGCTGATGTTGCTCCAGT 0.562 95 66 --- --- --- --- PASS CLRN2 645104 broad.mit.edu 37 4 17528554 17528554 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:17528554A>G uc003gpg.1 + 3 650 c.548A>G c.(547-549)GAA>GGA p.E183G NM_001079827 NP_001073296 A0PK11 CLRN2_HUMAN clarin 2 183 integral to membrane 0 GTGGTGGAAGAACAGTATGAA 0.532 17 35 --- --- --- --- PASS G3BP2 9908 broad.mit.edu 37 4 76573882 76573882 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:76573882C>T uc003hir.2 - 9 1034 c.869G>A c.(868-870)CGT>CAT p.R290H G3BP2_uc003his.2_Missense_Mutation_p.R290H|G3BP2_uc003hit.2_Missense_Mutation_p.R257H NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 290 cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TTCACGCACACGAGGTGGCTG 0.408 12 7 --- --- --- --- PASS PDHA2 5161 broad.mit.edu 37 4 96761711 96761711 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:96761711C>T uc003htr.3 + 1 473 c.410C>T c.(409-411)ACG>ATG p.T137M NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 137 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCAGAGCTGACGGGAAGAAGA 0.527 4 105 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113505305 113505305 + Missense_Mutation SNP C G G rs112544380 TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:113505305C>G uc003iau.2 - 15 4338 c.4127G>C c.(4126-4128)GGA>GCA p.G1376A C4orf21_uc003iav.2_RNA NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like 198 integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AGCTTTGGGTCCATCACATGT 0.368 3 6 --- --- --- --- PASS PLK4 10733 broad.mit.edu 37 4 128819593 128819593 + Splice_Site SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:128819593G>C uc003ifo.2 + 16 3056 c.2811_splice c.e16-1 p.R937_splice PLK4_uc011cgs.1_Splice_Site_p.R905_splice|PLK4_uc011cgt.1_Splice_Site_p.R896_splice NM_014264 NP_055079 O00444 PLK4_HUMAN polo-like kinase 4 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 GCTTCACTTAGGTATGGAGAA 0.313 6 13 --- --- --- --- PASS PCDH18 54510 broad.mit.edu 37 4 138453011 138453011 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:138453011C>A uc003ihe.3 - 1 619 c.232G>T c.(232-234)GTA>TTA p.V78L PCDH18_uc003ihf.3_Missense_Mutation_p.V71L|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 78 Extracellular (Potential).|Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TCGTTTACTACAAGTAGAGGA 0.423 4 91 --- --- --- --- PASS ASB5 140458 broad.mit.edu 37 4 177142317 177142317 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr4:177142317A>G uc003iuq.1 - 5 675 c.659T>C c.(658-660)CTT>CCT p.L220P ASB5_uc003iup.1_Missense_Mutation_p.L167P NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 220 ANK 5. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AGCATAAAGAAGCTTCCAGAT 0.368 14 14 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1443164 1443164 + Missense_Mutation SNP G A A rs146798197 TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:1443164G>A uc003jck.2 - 2 270 c.149C>T c.(148-150)CCG>CTG p.P50L NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 50 Cytoplasmic (Potential). 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) GCTCTGCCGCGGGTTGGTGAG 0.632 62 126 --- --- --- --- PASS CDH12 1010 broad.mit.edu 37 5 21842269 21842269 + Splice_Site SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:21842269C>T uc010iuc.2 - 5 1272 c.814_splice c.e5+1 p.S272_splice CDH12_uc011cno.1_Splice_Site_p.S232_splice|CDH12_uc003jgk.2_Splice_Site_p.S272_splice NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 AGGTGACATACTTTTGGGGAA 0.408 HNSCC(59;0.17) 11 70 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23509677 23509677 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:23509677G>T uc003jgo.2 + 3 350 c.168G>T c.(166-168)AGG>AGT p.R56S NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 56 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATGTGAAAAGGAACTATAATG 0.423 HNSCC(3;0.000094) 40 92 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33643489 33643489 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:33643489C>T uc003jia.1 - 10 1729 c.1566G>A c.(1564-1566)GAG>GAA p.E522E ADAMTS12_uc010iuq.1_Silent_p.E522E NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 522 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCACCTTCTTCTCACCACATT 0.547 HNSCC(64;0.19) 31 66 --- --- --- --- PASS CD180 4064 broad.mit.edu 37 5 66478990 66478990 + Missense_Mutation SNP G A A rs150000308 TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:66478990G>A uc003juy.2 - 3 1829 c.1681C>T c.(1681-1683)CGT>TGT p.R561C NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 561 LRR 19.|Extracellular (Potential). inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GGGAGGAGACGGGGTGAGATG 0.453 25 24 --- --- --- --- PASS XRCC4 7518 broad.mit.edu 37 5 82499434 82499434 + Silent SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:82499434G>C uc003kib.2 + 5 674 c.546G>C c.(544-546)CTG>CTC p.L182L XRCC4_uc003kia.1_Silent_p.L182L|XRCC4_uc003kid.2_Silent_p.L182L|XRCC4_uc003kic.2_Silent_p.L182L|XRCC4_uc003kie.2_Silent_p.L182L|XRCC4_uc003kif.1_Silent_p.L182L|XRCC4_uc003kig.2_5'Flank NM_022406 NP_071801 Q13426 XRCC4_HUMAN X-ray repair cross complementing protein 4 182 Interacts with LIG4. DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm DNA binding|protein C-terminus binding skin(3) 3 Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034) OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28) GGTTTATTCTGGTGTTGAATG 0.313 NHEJ 11 27 --- --- --- --- PASS POU5F2 134187 broad.mit.edu 37 5 93077080 93077080 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:93077080G>T uc003kkl.1 - 1 230 c.190C>A c.(190-192)CCC>ACC p.P64T FAM172A_uc010jbd.2_Intron|FAM172A_uc011cuf.1_Intron|FAM172A_uc011cug.1_Intron|FAM172A_uc011cuh.1_Intron|FAM172A_uc011cui.1_Intron|FAM172A_uc011cuj.1_Intron NM_153216 NP_694948 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 64 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) GGACCCAGGGGAATCCTCCAC 0.677 14 11 --- --- --- --- PASS PCDHGB5 56101 broad.mit.edu 37 5 140779353 140779353 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:140779353C>A uc003lkf.1 + 1 1659 c.1659C>A c.(1657-1659)GAC>GAA p.D553E PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.D553E NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 553 Extracellular (Potential).|Cadherin 5. 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) ACCGAAACGACAACGCACCGC 0.682 8 32 --- --- --- --- PASS WWC1 23286 broad.mit.edu 37 5 167882517 167882517 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:167882517G>T uc003lzu.2 + 19 2908 c.2815G>T c.(2815-2817)GTG>TTG p.V939L WWC1_uc003lzv.2_Missense_Mutation_p.V939L|WWC1_uc011den.1_Missense_Mutation_p.V939L|WWC1_uc003lzw.2_Missense_Mutation_p.V738L|WWC1_uc010jjf.1_Missense_Mutation_p.V211L NM_015238 NP_056053 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 isoform 3 939 Interaction with histone H3. cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity ovary(2)|skin(2)|breast(1) 5 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) GAGCCAGTACGTGTGCCGGGT 0.502 63 69 --- --- --- --- PASS BTNL3 10917 broad.mit.edu 37 5 180424385 180424385 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr5:180424385T>A uc003mmr.2 + 3 698 c.570T>A c.(568-570)GAT>GAA p.D190E NM_197975 NP_932079 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 precursor 190 Ig-like V-type.|Extracellular (Potential). lipid metabolic process integral to membrane 0 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GCCTGTATGATGTGGAGATCT 0.498 24 9 --- --- --- --- PASS GCM2 9247 broad.mit.edu 37 6 10877430 10877430 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:10877430C>A uc003mzn.3 - 2 358 c.286G>T c.(286-288)GGT>TGT p.G96C SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 96 GCM. cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) AGGCGGGAACCGTCGGGCAGG 0.627 4 144 --- --- --- --- PASS HIST1H2AK 8330 broad.mit.edu 37 6 27806045 27806045 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:27806045G>T uc003njs.2 - 1 73 c.73C>A c.(73-75)CAG>AAG p.Q25K HIST1H2BN_uc003njt.1_5'Flank|HIST1H2BN_uc003nju.1_5'Flank|HIST1H2BN_uc003njv.2_5'Flank NM_003510 NP_003501 P0C0S8 H2A1_HUMAN histone cluster 1, H2ak 25 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding upper_aerodigestive_tract(1) 1 ACTGGGAACTGAAGACCCGCC 0.612 19 76 --- --- --- --- PASS OR2W1 26692 broad.mit.edu 37 6 29012353 29012353 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:29012353G>A uc003nlw.2 - 1 600 c.600C>T c.(598-600)TTC>TTT p.F200F NM_030903 NP_112165 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 TGCCTAAAGCGAAAACAGACA 0.423 21 83 --- --- --- --- PASS OR5V1 81696 broad.mit.edu 37 6 29323508 29323508 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:29323508G>A uc011dlo.1 - 1 547 c.465C>T c.(463-465)AAC>AAT p.N155N NM_030876 NP_110503 Q9UGF6 OR5V1_HUMAN olfactory receptor, family 5, subfamily V, 155 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|kidney(1) 4 GCACCACTGAGTTAAGGAAAC 0.433 17 26 --- --- --- --- PASS ZBTB9 221504 broad.mit.edu 37 6 33423675 33423675 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:33423675G>T uc003oeq.2 + 2 1066 c.798G>T c.(796-798)GAG>GAT p.E266D NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 266 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CAGAGGGTGAGAGTGCACCAC 0.567 32 129 --- --- --- --- PASS SUPT3H 8464 broad.mit.edu 37 6 44971458 44971458 + Nonsense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:44971458G>A uc003oxo.2 - 8 787 c.469C>T c.(469-471)CAG>TAG p.Q157* SUPT3H_uc003oxn.1_Nonsense_Mutation_p.Q146*|SUPT3H_uc011dvv.1_5'UTR|SUPT3H_uc003oxp.2_Nonsense_Mutation_p.Q146*|SUPT3H_uc011dvw.1_Nonsense_Mutation_p.Q60* NM_181356 NP_852001 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog isoform 2 228 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity ovary(2)|breast(1) 3 TCTCCTGTCTGGTCAATAGAG 0.353 4 29 --- --- --- --- PASS IL17A 3605 broad.mit.edu 37 6 52053995 52053995 + Nonsense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:52053995G>T uc003pak.1 + 3 418 c.373G>T c.(373-375)GAG>TAG p.E125* NM_002190 NP_002181 Q16552 IL17_HUMAN interleukin 17A precursor 125 apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation extracellular space cytokine activity 0 Lung NSC(77;0.116) CCTGCGCAGGGAGCCTCCACA 0.597 17 23 --- --- --- --- PASS GJA10 84694 broad.mit.edu 37 6 90604623 90604623 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:90604623A>G uc011eaa.1 + 1 436 c.436A>G c.(436-438)AAA>GAA p.K146E NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 146 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GAGGATCCATAAAGTCCCTCT 0.448 44 49 --- --- --- --- PASS HACE1 57531 broad.mit.edu 37 6 105219851 105219851 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:105219851T>A uc003pqu.1 - 18 2240 c.1963A>T c.(1963-1965)AGG>TGG p.R655W HACE1_uc010kcy.1_Missense_Mutation_p.R137W|HACE1_uc010kcz.1_Intron|HACE1_uc010kcx.1_Missense_Mutation_p.R64W|HACE1_uc003pqt.1_Missense_Mutation_p.R308W NM_020771 NP_065822 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing, E3 655 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity ovary(5)|lung(2) 7 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) ACCAGCTGCCTGTGGTTCAAC 0.368 14 28 --- --- --- --- PASS MOXD1 26002 broad.mit.edu 37 6 132618998 132618998 + Silent SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:132618998G>C uc003qdf.2 - 11 1704 c.1605C>G c.(1603-1605)CTC>CTG p.L535L MOXD1_uc003qde.2_Silent_p.L467L NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 535 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TGTTGAAGGAGAGACCTTCCT 0.423 3 37 --- --- --- --- PASS TAAR1 134864 broad.mit.edu 37 6 132967052 132967052 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:132967052C>G uc003qdm.1 - 1 91 c.91G>C c.(91-93)GTG>CTG p.V31L NM_138327 NP_612200 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 31 Helical; Name=1; (Potential). plasma membrane 0 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) ATTATGAGCACCATTAAACTG 0.388 31 93 --- --- --- --- PASS PHACTR2 9749 broad.mit.edu 37 6 144074909 144074909 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:144074909A>T uc003qjq.3 + 4 411 c.281A>T c.(280-282)AAC>ATC p.N94I PHACTR2_uc010khh.2_Missense_Mutation_p.N94I|PHACTR2_uc010khi.2_Missense_Mutation_p.N105I|PHACTR2_uc003qjr.3_Missense_Mutation_p.N105I NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 94 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) GTAACAGTTAACTTTGAAAAT 0.373 3 18 --- --- --- --- PASS SLC22A2 6582 broad.mit.edu 37 6 160668227 160668227 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:160668227C>A uc003qtf.2 - 5 1116 c.946G>T c.(946-948)GCC>TCC p.A316S SLC22A2_uc003qte.1_Missense_Mutation_p.A316S NM_003058 NP_003049 O15244 S22A2_HUMAN solute carrier family 22 member 2 316 Cytoplasmic (Potential). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(1)|skin(1) 2 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TGAAGGGAGGCGGGTAGAGAT 0.483 6 58 --- --- --- --- PASS PLG 5340 broad.mit.edu 37 6 161139408 161139408 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:161139408C>T uc003qtm.3 + 8 933 c.870C>T c.(868-870)ACC>ACT p.T290T NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 290 Kringle 3. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TGGCTGTTACCGTGTCCGGGC 0.532 6 51 --- --- --- --- PASS TBP 6908 broad.mit.edu 37 6 170871052 170871052 + Silent SNP G A A rs112083427 TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr6:170871052G>A uc003qxt.2 + 3 460 c.228G>A c.(226-228)CAG>CAA p.Q76Q TBP_uc003qxu.2_Silent_p.Q76Q|TBP_uc011ehf.1_Silent_p.Q56Q|TBP_uc011ehg.1_Silent_p.Q76Q NM_003194 NP_003185 P20226 TBP_HUMAN TATA box binding protein 76 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcaacagcagcagcagcagc 0.159 3 2 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21584692 21584692 + Silent SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:21584692T>C uc003svc.2 + 2 451 c.420T>C c.(418-420)AAT>AAC p.N140N NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 140 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTGGAGTAAATGACTTTTCTC 0.338 Kartagener_syndrome 6 4 --- --- --- --- PASS TXNDC3 51314 broad.mit.edu 37 7 37927962 37927962 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:37927962T>A uc003tfn.2 + 15 1703 c.1331T>A c.(1330-1332)ATA>AAA p.I444K NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 444 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 GAAAGGGAAATACAGCATTTC 0.373 Kartagener_syndrome 14 29 --- --- --- --- PASS COBL 23242 broad.mit.edu 37 7 51097005 51097005 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:51097005T>A uc003tpr.3 - 10 1973 c.1788A>T c.(1786-1788)GAA>GAT p.E596D COBL_uc003tps.2_Missense_Mutation_p.E653D|COBL_uc011kcl.1_Missense_Mutation_p.E596D|COBL_uc003tpp.3_Missense_Mutation_p.E382D|COBL_uc003tpq.3_Missense_Mutation_p.E537D|COBL_uc003tpo.3_Missense_Mutation_p.E138D NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 596 skin(3)|ovary(2) 5 Glioma(55;0.08) GGGCAGGTACTTCCTCCCTTG 0.562 23 86 --- --- --- --- PASS CCDC132 55610 broad.mit.edu 37 7 92940500 92940500 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:92940500A>G uc003umo.2 + 20 1899 c.1771A>G c.(1771-1773)AGC>GGC p.S591G CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.S561G|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.S311G NM_017667 NP_060137 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 isoform a 591 0 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) AACTCTAAAAAGCAGGAAGAA 0.353 19 36 --- --- --- --- PASS DYNC1I1 1780 broad.mit.edu 37 7 95665060 95665060 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:95665060G>A uc003uoc.3 + 13 1688 c.1411G>A c.(1411-1413)GGA>AGA p.G471R DYNC1I1_uc003uod.3_Missense_Mutation_p.G454R|DYNC1I1_uc003uob.2_Missense_Mutation_p.G434R|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G451R|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G460R NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 471 WD 4. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TTGTCGTCATGGAAGGTGATT 0.443 78 136 --- --- --- --- PASS PSMC2 5701 broad.mit.edu 37 7 103004738 103004738 + Missense_Mutation SNP A C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:103004738A>C uc003vbs.2 + 8 810 c.740A>C c.(739-741)CAG>CCG p.Q247P SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|PSMC2_uc011klo.1_Missense_Mutation_p.Q110P NM_002803 NP_002794 P35998 PRS7_HUMAN proteasome 26S ATPase subunit 2 247 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 mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding 0 GAGCTTGTACAGAAATACGTC 0.413 52 87 --- --- --- --- PASS IQUB 154865 broad.mit.edu 37 7 123150084 123150084 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:123150084C>A uc003vkn.2 - 3 980 c.403G>T c.(403-405)GTT>TTT p.V135F IQUB_uc003vko.2_Missense_Mutation_p.V135F|IQUB_uc010lkt.2_RNA|IQUB_uc003vkp.1_Missense_Mutation_p.V135F|IQUB_uc003vkq.2_Missense_Mutation_p.V135F NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 135 Ubiquitin-like. ovary(3)|large_intestine(1) 4 ATAAGTACAACTTTTACTGTA 0.303 10 45 --- --- --- --- PASS POT1 25913 broad.mit.edu 37 7 124493159 124493159 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:124493159T>A uc003vlm.2 - 10 1337 c.736A>T c.(736-738)ACC>TCC p.T246S POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Missense_Mutation_p.T115S|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 246 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TGAAGTTTGGTATGAAGGCTA 0.328 4 10 --- --- --- --- PASS FAM115A 9747 broad.mit.edu 37 7 143556250 143556250 + Nonsense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:143556250C>T uc003wdo.1 - 7 2305 c.2172G>A c.(2170-2172)TGG>TGA p.W724* FAM115A_uc011ktu.1_Nonsense_Mutation_p.W300*|FAM115A_uc003wdp.1_Nonsense_Mutation_p.W724* NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 724 0 Melanoma(164;0.0903) CTGCATGCATCCAGCCTGGAA 0.507 18 118 --- --- --- --- PASS ARHGEF5 7984 broad.mit.edu 37 7 144060770 144060770 + Silent SNP T C C rs141931104 by1000genomes TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:144060770T>C uc003wel.2 + 2 1126 c.1008T>C c.(1006-1008)AAT>AAC p.N336N ARHGEF5_uc003wek.2_Silent_p.N336N NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 336 intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) CAGAAGAGAATAGGGCGGACT 0.512 4 337 --- --- --- --- PASS WDR60 55112 broad.mit.edu 37 7 158723180 158723180 + Silent SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:158723180T>C uc003woe.3 + 21 2678 c.2520T>C c.(2518-2520)CAT>CAC p.H840H WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Silent_p.H472H NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 840 ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AGCTGGTACATAGTGCTCTGA 0.398 9 16 --- --- --- --- PASS SH2D4A 63898 broad.mit.edu 37 8 19192231 19192231 + Missense_Mutation SNP A C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:19192231A>C uc003wzb.2 + 4 712 c.376A>C c.(376-378)AAA>CAA p.K126Q SH2D4A_uc011kym.1_Missense_Mutation_p.K81Q|SH2D4A_uc003wzc.2_Missense_Mutation_p.K126Q NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 126 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) CAATAGCTTGAAAACAAAATC 0.413 30 39 --- --- --- --- PASS EGR3 1960 broad.mit.edu 37 8 22548882 22548882 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:22548882C>A uc003xcm.1 - 2 626 c.268G>T c.(268-270)GCC>TCC p.A90S EGR3_uc011kzn.1_Missense_Mutation_p.A52S|EGR3_uc011kzo.1_Missense_Mutation_p.A36S NM_004430 NP_004421 Q06889 EGR3_HUMAN early growth response 3 90 circadian rhythm|muscle organ development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Prostate(55;0.0421)|Breast(100;0.102) Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608) GAGTCGAAGGCGAACTTTCCC 0.617 52 166 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38186925 38186925 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:38186925A>G uc003xli.2 - 6 2070 c.1552T>C c.(1552-1554)TTT>CTT p.F518L WHSC1L1_uc011lbm.1_Missense_Mutation_p.F518L|WHSC1L1_uc010lwe.2_Missense_Mutation_p.F518L|WHSC1L1_uc003xlj.2_Missense_Mutation_p.F518L NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 518 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) TGATCGATAAATTTCCCATCC 0.388 T NUP98 AML 15 39 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41574571 41574571 + Splice_Site SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:41574571T>C uc003xok.2 - 13 1390 c.1306_splice c.e13-1 p.K436_splice NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Splice_Site_p.K436_splice|ANK1_uc003xoj.2_Splice_Site_p.K436_splice|ANK1_uc003xol.2_Splice_Site_p.K436_splice|ANK1_uc003xom.2_Splice_Site_p.K469_splice NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CTCCACTTTCTATAAAATAAC 0.478 46 144 --- --- --- --- PASS CHD7 55636 broad.mit.edu 37 8 61655366 61655366 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:61655366C>A uc003xue.2 + 2 1852 c.1375C>A c.(1375-1377)CGT>AGT p.R459S NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 459 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GCAGCAGTCTCGTCCATTTAT 0.542 3 45 --- --- --- --- PASS YTHDF3 253943 broad.mit.edu 37 8 64099962 64099962 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:64099962T>C uc003xuy.2 + 5 1709 c.1393T>C c.(1393-1395)TTC>CTC p.F465L YTHDF3_uc010lys.2_Missense_Mutation_p.F409L|YTHDF3_uc003xuz.2_Missense_Mutation_p.F409L|YTHDF3_uc003xva.2_Missense_Mutation_p.F409L|YTHDF3_uc011len.1_Missense_Mutation_p.F409L NM_152758 NP_689971 Q7Z739 YTHD3_HUMAN YTH domain family, member 3 465 YTH. 0 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) CTATTTACTCTTCAGTGTGAA 0.438 11 30 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77690550 77690550 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:77690550G>T uc003yav.2 + 4 3509 c.3122G>T c.(3121-3123)CGT>CTT p.R1041L ZFHX4_uc003yau.1_Missense_Mutation_p.R1067L|ZFHX4_uc003yaw.1_Missense_Mutation_p.R1041L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1041 C2H2-type 7. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAACATGTCCGTTCGGTGAAG 0.517 HNSCC(33;0.089) 34 82 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763734 77763734 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:77763734G>A uc003yav.2 + 10 4829 c.4442G>A c.(4441-4443)GGG>GAG p.G1481E ZFHX4_uc003yau.1_Missense_Mutation_p.G1526E|ZFHX4_uc003yaw.1_Missense_Mutation_p.G1481E NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1481 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTTAGAAAAGGGCCCAATTTT 0.433 HNSCC(33;0.089) 7 10 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763735 77763735 + Silent SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:77763735G>T uc003yav.2 + 10 4830 c.4443G>T c.(4441-4443)GGG>GGT p.G1481G ZFHX4_uc003yau.1_Silent_p.G1526G|ZFHX4_uc003yaw.1_Silent_p.G1481G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1481 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TTAGAAAAGGGCCCAATTTTA 0.428 HNSCC(33;0.089) 6 10 --- --- --- --- PASS KCNV1 27012 broad.mit.edu 37 8 110980540 110980540 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:110980540A>G uc003ynr.3 - 3 1622 c.1280T>C c.(1279-1281)ATT>ACT p.I427T KCNV1_uc010mcw.2_Missense_Mutation_p.I427T NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 427 Helical; Name=Segment S6; (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GCGATCGTTAATAATAGCAAT 0.448 3 70 --- --- --- --- PASS EFR3A 23167 broad.mit.edu 37 8 132996486 132996486 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:132996486C>G uc003yte.2 + 15 1877 c.1676C>G c.(1675-1677)ACT>AGT p.T559S NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 559 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCTCTTATAACTATTGAACTG 0.363 16 22 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139629158 139629158 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:139629158C>T uc003yvd.2 - 54 4316 c.3869G>A c.(3868-3870)CGG>CAG p.R1290Q COL22A1_uc011ljo.1_Missense_Mutation_p.R570Q NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1290 Pro-rich.|Gly-rich.|Collagen-like 12. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCACTTACCCGGGGACCGGG 0.572 HNSCC(7;0.00092) 7 56 --- --- --- --- PASS NAPRT1 93100 broad.mit.edu 37 8 144658690 144658690 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr8:144658690A>T uc003yym.3 - 7 959 c.934T>A c.(934-936)TAC>AAC p.Y312N NAPRT1_uc003yyn.3_Missense_Mutation_p.Y312N|NAPRT1_uc011lkh.1_Missense_Mutation_p.Y312N|NAPRT1_uc003yyo.3_Missense_Mutation_p.Y312N NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 312 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) ACTGCCCGGTAGCCCAGCTCT 0.617 12 40 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37740403 37740403 + Silent SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr9:37740403C>G uc004aag.1 + 15 1922 c.1878C>G c.(1876-1878)ACC>ACG p.T626T FRMPD1_uc004aah.1_Silent_p.T626T|FRMPD1_uc011lqm.1_Silent_p.T448T|FRMPD1_uc011lqn.1_Silent_p.T495T NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 626 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GCAGGTCCACCTTCTTCCACT 0.587 30 21 --- --- --- --- PASS WNK2 65268 broad.mit.edu 37 9 96061478 96061478 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr9:96061478G>T uc004ati.1 + 25 6161 c.6161G>T c.(6160-6162)CGG>CTG p.R2054L WNK2_uc011lud.1_Missense_Mutation_p.R2017L|WNK2_uc004atj.2_Missense_Mutation_p.R2017L|WNK2_uc004atk.2_Intron|WNK2_uc004atl.1_Missense_Mutation_p.R611L NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 2054 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1) 12 TGCTCCGTCCGGGCCTCCCTG 0.657 30 52 --- --- --- --- PASS C9orf84 158401 broad.mit.edu 37 9 114521017 114521017 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr9:114521017A>G uc004bfr.2 - 4 497 c.362T>C c.(361-363)TTA>TCA p.L121S C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.L185S|C9orf84_uc004bfq.2_Missense_Mutation_p.L82S|C9orf84_uc010mug.2_Missense_Mutation_p.L67S NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 121 ovary(2) 2 TTTGAAATCTAAAAGAGGATC 0.318 10 13 --- --- --- --- PASS ITIH2 3698 broad.mit.edu 37 10 7759670 7759670 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:7759670C>T uc001ijs.2 + 6 711 c.549C>T c.(547-549)TAC>TAT p.Y183Y NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 183 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 AACTTCACTACCAGGAGGTGA 0.517 42 204 --- --- --- --- PASS GJD4 219770 broad.mit.edu 37 10 35896661 35896661 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:35896661C>T uc001iyy.1 + 2 378 c.220C>T c.(220-222)CAC>TAC p.H74Y NM_153368 NP_699199 Q96KN9 CXD4_HUMAN connexin40.1 74 Extracellular (Potential). cell communication connexon complex|integral to membrane large_intestine(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CCCCGTGTCTCACCTGCGGTT 0.657 60 306 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49448520 49448520 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:49448520C>A uc001jgi.2 - 6 690 c.583G>T c.(583-585)GTG>TTG p.V195L FRMPD2_uc001jgh.2_Missense_Mutation_p.V164L|FRMPD2_uc001jgj.2_Missense_Mutation_p.V173L NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 195 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CTTTCCTCCACAACTCTTTTC 0.557 13 68 --- --- --- --- PASS SLC18A3 6572 broad.mit.edu 37 10 50820269 50820269 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:50820269G>T uc001jhw.2 + 1 1923 c.1483G>T c.(1483-1485)GAT>TAT p.D495Y CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 495 Cytoplasmic (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 AGGTCTGTACGATGCGGTGCG 0.647 4 149 --- --- --- --- PASS ZNF365 22891 broad.mit.edu 37 10 64136627 64136627 + Silent SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:64136627C>A uc001jmc.2 + 2 990 c.675C>A c.(673-675)GCC>GCA p.A225A ZNF365_uc001jly.3_Silent_p.A240A|ZNF365_uc001jmb.3_Silent_p.A225A|ZNF365_uc001jlz.3_Silent_p.A225A|ZNF365_uc001jma.3_Intron NM_199451 NP_955523 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform C Error:Variant_position_missing_in_Q70YC4_after_alignment ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) TGGACGTGGCCGTGGAAATGA 0.522 51 78 --- --- --- --- PASS LRRTM3 347731 broad.mit.edu 37 10 68687044 68687044 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:68687044T>A uc001jmz.1 + 2 920 c.370T>A c.(370-372)TTT>ATT p.F124I CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.F124I NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 124 LRR 3.|Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 AATCTCCTATTTTCTTAACAA 0.393 85 103 --- --- --- --- PASS CYP2C8 1558 broad.mit.edu 37 10 96802818 96802818 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:96802818C>A uc001kkb.2 - 7 1073 c.978G>T c.(976-978)GAG>GAT p.E326D CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.E256D|CYP2C8_uc010qob.1_Missense_Mutation_p.E240D|CYP2C8_uc010qoc.1_Missense_Mutation_p.E224D|CYP2C8_uc010qod.1_Missense_Mutation_p.E240D NM_000770 NP_000761 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, 326 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding 0 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CATGATCAATCTCTTCCTGGA 0.438 37 19 --- --- --- --- PASS KCNK18 338567 broad.mit.edu 37 10 118969311 118969311 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr10:118969311C>T uc010qsr.1 + 3 656 c.656C>T c.(655-657)TCA>TTA p.S219L NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 219 Cytoplasmic (Potential). integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) ACATGTCCTTCACGCCCAAGC 0.532 5 68 --- --- --- --- PASS SPTY2D1 144108 broad.mit.edu 37 11 18636721 18636721 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:18636721C>G uc001moy.2 - 3 1316 c.1100G>C c.(1099-1101)GGT>GCT p.G367A SPTY2D1_uc010rdi.1_Missense_Mutation_p.G367A NM_194285 NP_919261 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 367 Ser-rich. breast(1) 1 CTGCCTGACACCTGGACTCTT 0.587 5 235 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55419124 55419124 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:55419124T>A uc001nhs.1 + 1 745 c.745T>A c.(745-747)TTC>ATC p.F249I NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) CGTTATCTTTTTCGGCCCCTG 0.483 16 90 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55419125 55419125 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:55419125T>A uc001nhs.1 + 1 746 c.746T>A c.(745-747)TTC>TAC p.F249Y NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GTTATCTTTTTCGGCCCCTGT 0.478 16 87 --- --- --- --- PASS OR5M8 219484 broad.mit.edu 37 11 56258190 56258190 + Nonsense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:56258190G>T uc001nix.1 - 1 657 c.657C>A c.(655-657)TAC>TAA p.Y219* NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) CAGGGAAAATGTAAAGGTAGG 0.408 21 50 --- --- --- --- PASS OR5B2 390190 broad.mit.edu 37 11 58190445 58190445 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:58190445A>G uc010rkg.1 - 1 290 c.290T>C c.(289-291)GTT>GCT p.V97A NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) GAACATCTGAACAGCACATGC 0.502 25 68 --- --- --- --- PASS OR5A2 219981 broad.mit.edu 37 11 59190177 59190177 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:59190177A>G uc010rkt.1 - 1 250 c.250T>C c.(250-252)TCT>CCT p.S84P NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, 84 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ATGATGTCAGACAGCATCTTA 0.502 28 44 --- --- --- --- PASS PLCB3 5331 broad.mit.edu 37 11 64032799 64032799 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:64032799C>T uc001nzb.2 + 25 2860 c.2860C>T c.(2860-2862)CTG>TTG p.L954L PLCB3_uc009ypg.1_Silent_p.L954L|PLCB3_uc009yph.1_Silent_p.L887L|PLCB3_uc009ypi.2_Silent_p.L954L NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 954 intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 CCCCACCCCGCTGGATGAGCT 0.692 4 16 --- --- --- --- PASS NRXN2 9379 broad.mit.edu 37 11 64427952 64427952 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:64427952G>A uc001oar.2 - 12 2680 c.2241C>T c.(2239-2241)AAC>AAT p.N747N NRXN2_uc001oas.2_Silent_p.N716N|NRXN2_uc001oaq.2_Silent_p.N414N NM_015080 NP_055895 P58401 NRX2B_HUMAN neurexin 2 isoform alpha-1 precursor Error:Variant_position_missing_in_P58401_after_alignment cell adhesion integral to membrane upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1) 10 TGTGCATGGCGTTAGGCAGCA 0.597 22 72 --- --- --- --- PASS PTPRCAP 5790 broad.mit.edu 37 11 67203563 67203563 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:67203563C>T uc001oli.1 - 2 325 c.262G>A c.(262-264)GGT>AGT p.G88S NM_005608 NP_005599 Q14761 PTCA_HUMAN protein tyrosine phosphatase, receptor type, 88 defense response integral to membrane|plasma membrane 0 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) AGCCAGCGACCTGGGGGGCTG 0.701 13 30 --- --- --- --- PASS C11orf24 53838 broad.mit.edu 37 11 68030121 68030121 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:68030121C>T uc001onr.3 - 4 784 c.342G>A c.(340-342)ACG>ACA p.T114T C11orf24_uc001ons.2_Silent_p.T114T NM_022338 NP_071733 Q96F05 CK024_HUMAN hypothetical protein LOC53838 precursor 114 Extracellular (Potential). integral to membrane 0 AGGCCGCAGTCGTACTGGAGG 0.592 12 49 --- --- --- --- PASS XRRA1 143570 broad.mit.edu 37 11 74555221 74555221 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:74555221C>G uc009yub.2 - 17 2343 c.2011G>C c.(2011-2013)GAG>CAG p.E671Q XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovn.2_Missense_Mutation_p.E294Q|XRRA1_uc001ovo.2_Missense_Mutation_p.E279Q|XRRA1_uc001ovq.3_Missense_Mutation_p.E584Q|XRRA1_uc001ovp.3_Missense_Mutation_p.E396Q|XRRA1_uc001ovr.2_Missense_Mutation_p.E294Q|XRRA1_uc001ovs.1_Missense_Mutation_p.E273Q NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 671 response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 ACCCGTTTCTCTTTGTGAACA 0.522 55 251 --- --- --- --- PASS GRIA4 2893 broad.mit.edu 37 11 105845102 105845102 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:105845102G>T uc001pix.2 + 16 2921 c.2475G>T c.(2473-2475)TTG>TTT p.L825F GRIA4_uc001piw.2_Missense_Mutation_p.L825F|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 825 Helical; (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TTGGCGGCTTGGGCTTGGCAA 0.498 16 76 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108382901 108382901 + Silent SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:108382901T>C uc001pkk.2 - 6 3444 c.3333A>G c.(3331-3333)AGA>AGG p.R1111R EXPH5_uc010rvy.1_Silent_p.R923R|EXPH5_uc010rvz.1_Silent_p.R955R|EXPH5_uc010rwa.1_Silent_p.R1035R NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1111 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTGGTCCTTTTCTAACGGAAG 0.468 18 79 --- --- --- --- PASS CRTAM 56253 broad.mit.edu 37 11 122720810 122720810 + Silent SNP C A A rs151156247 byFrequency TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:122720810C>A uc001pyj.2 + 2 81 c.81C>A c.(79-81)ACC>ACA p.T27T NM_019604 NP_062550 O95727 CRTAM_HUMAN class-I MHC-restricted T cell associated 27 Ig-like V-type.|Extracellular (Potential). cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target integral to membrane|plasma membrane receptor binding ovary(1) 1 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) AAACCATCACCGTGGAGGAAG 0.532 3 37 --- --- --- --- PASS OR8D1 283159 broad.mit.edu 37 11 124180028 124180028 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:124180028A>G uc010sag.1 - 1 635 c.635T>C c.(634-636)CTA>CCA p.L212P NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AGCAACAGCTAGGGTGGGCAC 0.507 22 14 --- --- --- --- PASS CDON 50937 broad.mit.edu 37 11 125867207 125867207 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:125867207C>T uc009zbw.2 - 12 2385 c.2257G>A c.(2257-2259)GCC>ACC p.A753T CDON_uc001qdb.3_Missense_Mutation_p.A130T|CDON_uc001qdc.3_Missense_Mutation_p.A753T NM_016952 NP_058648 Q4KMG0 CDON_HUMAN surface glycoprotein, Ig superfamily member 753 Fibronectin type-III 2.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding ovary(3)|skin(2)|breast(1) 6 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) ACTTTGAAGGCAGTGATTGGA 0.498 11 31 --- --- --- --- PASS KLRC1 3821 broad.mit.edu 37 12 10601878 10601878 + Silent SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:10601878C>G uc001qyl.2 - 5 611 c.447G>C c.(445-447)TCG>TCC p.S149S KLRC1_uc009zhm.1_Silent_p.S149S|KLRC1_uc001qym.2_Silent_p.S131S|KLRC1_uc001qyn.2_Silent_p.S149S|KLRC1_uc001qyo.2_Silent_p.S131S NM_002259 NP_002250 P26715 NKG2A_HUMAN killer cell lectin-like receptor subfamily C, 149 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|regulation of immune response integral to plasma membrane sugar binding|transmembrane receptor activity 0 TGGAGTTCTTCGAAGTACAGG 0.328 20 150 --- --- --- --- PASS LRP6 4040 broad.mit.edu 37 12 12311984 12311984 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:12311984C>T uc001rah.3 - 12 2712 c.2570G>A c.(2569-2571)CGT>CAT p.R857H BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R857H NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 857 Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15. 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) TTTGTTGGCACGCTCAATGCT 0.488 23 34 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 21960410 21960410 + Missense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:21960410G>C uc001rfi.1 - 36 4339 c.4319C>G c.(4318-4320)GCG>GGG p.A1440G ABCC9_uc001rfh.2_Missense_Mutation_p.A1440G|ABCC9_uc001rfj.1_Missense_Mutation_p.A1404G|ABCC9_uc001rfg.2_5'UTR NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1440 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTGACAACCGCATCTAAATC 0.398 19 49 --- --- --- --- PASS NELL2 4753 broad.mit.edu 37 12 45105132 45105132 + Missense_Mutation SNP C A A rs142043324 TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:45105132C>A uc001rog.2 - 11 1727 c.1132G>T c.(1132-1134)GAT>TAT p.D378Y NELL2_uc001rof.3_Missense_Mutation_p.D377Y|NELL2_uc001roh.2_Missense_Mutation_p.D378Y|NELL2_uc009zkd.2_Missense_Mutation_p.D377Y|NELL2_uc010skz.1_Missense_Mutation_p.D428Y|NELL2_uc010sla.1_Missense_Mutation_p.D401Y|NELL2_uc001roi.1_Missense_Mutation_p.D378Y|NELL2_uc010slb.1_Missense_Mutation_p.D377Y|NELL2_uc001roj.2_Missense_Mutation_p.D378Y NM_001145108 NP_001138580 Q99435 NELL2_HUMAN NEL-like protein 2 isoform b precursor 378 VWFC 2. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TCTGGACAATCCAAAGCTGGA 0.378 15 30 --- --- --- --- PASS PLEKHA9 51054 broad.mit.edu 37 12 45567236 45567236 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:45567236C>T uc001rom.1 - 3 1450 c.913G>A c.(913-915)GAA>AAA p.E305K PLEKHA9_uc009zke.2_Missense_Mutation_p.E305K NM_015899 NP_056983 pleckstrin homology domain containing, family A 0 Lung SC(27;0.192)|Renal(347;0.236) GBM - Glioblastoma multiforme(48;0.173) TTTTTCACTTCTGTCAAAAAT 0.483 14 82 --- --- --- --- PASS VDR 7421 broad.mit.edu 37 12 48249571 48249571 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:48249571C>T uc001rqm.2 - 8 879 c.597G>A c.(595-597)TCG>TCA p.S199S VDR_uc001rql.2_Silent_p.S249S|VDR_uc001rqn.2_Silent_p.S199S|VDR_uc010slq.1_Silent_p.S167S NM_001017535 NP_001017535 P11473 VDR_HUMAN vitamin D (1,25-dihydroxyvitamin D3) receptor 199 Ligand-binding. decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214) GBM - Glioblastoma multiforme(48;0.17) Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) AGAAGCTGGACGAGTCCATCA 0.547 4 97 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49443464 49443464 + Splice_Site SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:49443464C>A uc001rta.3 - 11 3906 c.3906_splice c.e11+1 p.Q1302_splice NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 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 TAGCCCCTCACCTGTTTGATG 0.567 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 29 48 --- --- --- --- PASS MAP3K12 7786 broad.mit.edu 37 12 53877794 53877794 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:53877794C>T uc001sdm.1 - 9 1258 c.1160G>A c.(1159-1161)CGG>CAG p.R387Q MAP3K12_uc001sdn.1_Missense_Mutation_p.R420Q NM_006301 NP_006292 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 387 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding lung(2)|ovary(1)|breast(1)|skin(1) 5 TACTTCTTCCCGCCACTCTGC 0.532 16 91 --- --- --- --- PASS RBMS2 5939 broad.mit.edu 37 12 56975191 56975191 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:56975191G>T uc001sln.2 + 7 830 c.631G>T c.(631-633)GAT>TAT p.D211Y RBMS2_uc010sqp.1_Missense_Mutation_p.D66Y|RBMS2_uc010sqq.1_Missense_Mutation_p.D86Y|RBMS2_uc009zou.2_5'UTR NM_002898 NP_002889 Q15434 RBMS2_HUMAN RNA binding motif, single stranded interacting 211 RRM 2. RNA processing nucleus nucleotide binding|RNA binding 0 AGCCCCATCCGATCCCTTGCT 0.532 17 32 --- --- --- --- PASS PTPRB 5787 broad.mit.edu 37 12 71029760 71029760 + Nonsense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:71029760G>A uc001swc.3 - 2 186 c.142C>T c.(142-144)CAG>TAG p.Q48* PTPRB_uc001swa.3_Nonsense_Mutation_p.Q48*|PTPRB_uc001swd.3_Nonsense_Mutation_p.Q47*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.Q48*|PTPRB_uc001swe.2_Nonsense_Mutation_p.Q48* NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment 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) TGCTGGTTCTGGATGGTCCTG 0.493 7 17 --- --- --- --- PASS ATP2B1 490 broad.mit.edu 37 12 90028892 90028892 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:90028892A>T uc001tbh.2 - 3 724 c.543T>A c.(541-543)TTT>TTA p.F181L ATP2B1_uc001tbg.2_Missense_Mutation_p.F181L NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 181 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 GCAAACCTCTAAACTGTTTTT 0.433 24 42 --- --- --- --- PASS VEZT 55591 broad.mit.edu 37 12 95668571 95668571 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:95668571C>A uc001tdz.2 + 7 1007 c.902C>A c.(901-903)CCT>CAT p.P301H VEZT_uc009ztb.1_RNA|VEZT_uc009ztc.1_5'UTR|VEZT_uc001tdy.2_RNA NM_017599 NP_060069 Q9HBM0 VEZA_HUMAN vezatin, adherens junctions transmembrane 301 acrosomal vesicle|adherens junction|integral to membrane|nucleus ovary(1) 1 TGTGTGGTGCCTTTTAAAGAG 0.428 6 79 --- --- --- --- PASS C12orf63 374467 broad.mit.edu 37 12 97052002 97052002 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:97052002G>A uc001tet.1 + 5 691 c.613G>A c.(613-615)GAA>AAA p.E205K NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 205 skin(6)|ovary(1) 7 GAGGTATACAGAACAAGTGAC 0.378 10 79 --- --- --- --- PASS FOXN4 121643 broad.mit.edu 37 12 109717646 109717646 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:109717646C>A uc001toe.3 - 10 1489 c.1384G>T c.(1384-1386)GCC>TCC p.A462S FOXN4_uc009zvg.2_Missense_Mutation_p.A259S|FOXN4_uc001tof.3_Missense_Mutation_p.A282S NM_213596 NP_998761 Q96NZ1 FOXN4_HUMAN forkhead box N4 462 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|lung(1) 2 AGGCCTGAGGCCCCCAGGTCA 0.612 23 19 --- --- --- --- PASS SDSL 113675 broad.mit.edu 37 12 113866227 113866227 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:113866227G>A uc001tvi.2 + 4 387 c.177G>A c.(175-177)ATG>ATA p.M59I SDSL_uc009zwh.2_Missense_Mutation_p.M59I NM_138432 NP_612441 Q96GA7 SDSL_HUMAN serine dehydratase-like 59 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding 0 Pyridoxal Phosphate(DB00114) CTTCCCAGATGGCCAAGAAGG 0.557 12 24 --- --- --- --- PASS VPS33A 65082 broad.mit.edu 37 12 122724483 122724483 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr12:122724483T>A uc001ucd.2 - 9 1219 c.1106A>T c.(1105-1107)GAC>GTC p.D369V VPS33A_uc001ucc.2_RNA NM_022916 NP_075067 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33A 369 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding skin(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) ATCAAAAAAGTCTTCAGAAGC 0.318 21 41 --- --- --- --- PASS CCDC70 83446 broad.mit.edu 37 13 52440012 52440012 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr13:52440012G>A uc001vfu.3 + 2 794 c.498G>A c.(496-498)GAG>GAA p.E166E uc010tgr.1_RNA NM_031290 NP_112580 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 precursor 166 extracellular region|plasma membrane 0 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) TGTGGGTAGAGGAAAGAGCCC 0.557 77 54 --- --- --- --- PASS MYCBP2 23077 broad.mit.edu 37 13 77900796 77900796 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr13:77900796T>A uc001vkf.2 - 2 92 c.1A>T c.(1-3)ATG>TTG p.M1L MYCBP2_uc010aev.2_5'UTR NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1 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) GGAACCGGCATGAACAGCGCC 0.756 4 0 --- --- --- --- PASS GPR18 2841 broad.mit.edu 37 13 99908124 99908124 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr13:99908124C>G uc001voe.3 - 3 504 c.3G>C c.(1-3)ATG>ATC p.M1I UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.M1I NM_005292 NP_005283 Q14330 GPR18_HUMAN G protein-coupled receptor 18 1 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TCAGGGTGATCATTTTACAGC 0.323 16 63 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108862405 108862405 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr13:108862405C>T uc001vqn.2 - 2 1485 c.1212G>A c.(1210-1212)CAG>CAA p.Q404Q LIG4_uc001vqo.2_Silent_p.Q404Q|LIG4_uc010agg.1_Silent_p.Q337Q|LIG4_uc010agf.2_Silent_p.Q404Q|LIG4_uc001vqp.2_Silent_p.Q404Q NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 404 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTTGTGTTTTCTGCACTATTT 0.333 NHEJ 10 74 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111125434 111125434 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr13:111125434G>T uc001vqx.2 + 29 2651 c.2362G>T c.(2362-2364)GGT>TGT p.G788C NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 788 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGAGATGCTGGTGTGCCTGG 0.701 7 6 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20443879 20443879 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:20443879C>G uc010tkx.1 + 1 202 c.202C>G c.(202-204)CTC>GTC p.L68V NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 68 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GGGCAACTTTCTCATCATCCT 0.433 23 61 --- --- --- --- PASS IRF9 10379 broad.mit.edu 37 14 24633866 24633866 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:24633866G>A uc001wmq.2 + 7 820 c.693G>A c.(691-693)GTG>GTA p.V231V RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_Intron NM_006084 NP_006075 Q00978 IRF9_HUMAN interferon-stimulated transcription factor 3, 231 interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00853) GGCGCGTGGTGGGCGAGGCCC 0.637 47 161 --- --- --- --- PASS TM9SF1 10548 broad.mit.edu 37 14 24662104 24662104 + Missense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:24662104G>C uc001wnb.1 - 3 1065 c.717C>G c.(715-717)ATC>ATG p.I239M IPO4_uc001wmz.1_5'Flank|TM9SF1_uc010toa.1_Missense_Mutation_p.I152M|TM9SF1_uc001wna.1_RNA|TM9SF1_uc010tob.1_Missense_Mutation_p.I474M|TM9SF1_uc001wnc.2_Missense_Mutation_p.I239M|TM9SF1_uc001wnd.2_Missense_Mutation_p.I95M NM_006405 NP_006396 O15321 TM9S1_HUMAN transmembrane 9 superfamily member 1 isoform a 239 Helical; (Potential). autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0183) TGGAGTTGATGATGGACAACC 0.512 12 33 --- --- --- --- PASS PLEKHG3 26030 broad.mit.edu 37 14 65203596 65203596 + Missense_Mutation SNP A T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:65203596A>T uc001xho.1 + 13 1640 c.1371A>T c.(1369-1371)CAA>CAT p.Q457H PLEKHG3_uc001xhn.1_Missense_Mutation_p.Q401H|PLEKHG3_uc001xhp.2_Missense_Mutation_p.Q457H|PLEKHG3_uc010aqh.1_5'UTR|PLEKHG3_uc001xhq.1_5'Flank NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 457 QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298). regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TGCTCAGGCAACTCAACGAGA 0.617 9 34 --- --- --- --- PASS PLEKHH1 57475 broad.mit.edu 37 14 68042598 68042598 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:68042598G>T uc001xjl.1 + 16 2370 c.2228G>T c.(2227-2229)TGT>TTT p.C743F PLEKHH1_uc010tsw.1_Missense_Mutation_p.C311F|PLEKHH1_uc001xjn.1_Missense_Mutation_p.C258F|PLEKHH1_uc010tsx.1_5'Flank NM_020715 NP_065766 Q9ULM0 PKHH1_HUMAN pleckstrin homology domain containing, family H 743 PH 2. cytoskeleton binding 0 all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011) GATCGATCCTGTGACTCAGAC 0.607 13 32 --- --- --- --- PASS PAPLN 89932 broad.mit.edu 37 14 73739301 73739301 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:73739301G>A uc010ttx.1 + 26 3929 c.3766G>A c.(3766-3768)GAG>AAG p.E1256K PAPLN_uc001xnw.3_Missense_Mutation_p.E1229K|PAPLN_uc010arl.2_RNA|PAPLN_uc010ttw.1_RNA|PAPLN_uc010tty.1_Missense_Mutation_p.E1240K|PAPLN_uc010arm.2_Missense_Mutation_p.E455K|PAPLN_uc010arn.2_3'UTR NM_173462 NP_775733 O95428 PPN_HUMAN papilin 1256 PLAC. proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TTGTGGCAATGAGTATTACTC 0.602 97 110 --- --- --- --- PASS FLRT2 23768 broad.mit.edu 37 14 86088141 86088141 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:86088141C>T uc001xvr.2 + 2 1050 c.283C>T c.(283-285)CTG>TTG p.L95L FLRT2_uc010atd.2_Silent_p.L95L NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 95 Extracellular (Potential).|LRR 2. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) CACGGTCTACCTGTATGGCAA 0.478 28 102 --- --- --- --- PASS ATG2B 55102 broad.mit.edu 37 14 96772007 96772007 + Missense_Mutation SNP T G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:96772007T>G uc001yfi.2 - 31 5017 c.4652A>C c.(4651-4653)AAG>ACG p.K1551T NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1551 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) AGAGACCTCCTTCACCACATA 0.408 15 47 --- --- --- --- PASS INF2 64423 broad.mit.edu 37 14 105167956 105167956 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:105167956C>T uc001ypb.2 + 2 397 c.254C>T c.(253-255)TCG>TTG p.S85L INF2_uc010tyi.1_Missense_Mutation_p.S85L|INF2_uc001ypc.2_Missense_Mutation_p.S85L|INF2_uc001yoy.3_Missense_Mutation_p.S85L|INF2_uc001ypa.2_Missense_Mutation_p.S85L NM_022489 NP_071934 Q27J81 INF2_HUMAN inverted formin 2 isoform 1 85 GBD/FH3. actin cytoskeleton organization endoplasmic reticulum|nucleus|perinuclear region of cytoplasm actin binding|Rho GTPase binding 0 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.176) GCGCGGCTGTCGGGCCGCGGC 0.706 11 17 --- --- --- --- PASS ATP10A 57194 broad.mit.edu 37 15 25959015 25959015 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:25959015C>T uc010ayu.2 - 10 2256 c.2150G>A c.(2149-2151)CGG>CAG p.R717Q NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 717 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) GTCGTGCAGCCGCTCCACAAG 0.637 45 96 --- --- --- --- PASS TJP1 7082 broad.mit.edu 37 15 30024643 30024643 + Missense_Mutation SNP T G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:30024643T>G uc001zcr.2 - 15 2486 c.2011A>C c.(2011-2013)ATT>CTT p.I671L TJP1_uc010azl.2_Missense_Mutation_p.I659L|TJP1_uc001zcq.2_Missense_Mutation_p.I675L|TJP1_uc001zcs.2_Missense_Mutation_p.I671L NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 671 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TTACTTGCAATTTGATAAATA 0.388 8 60 --- --- --- --- PASS ATPBD4 89978 broad.mit.edu 37 15 35703062 35703062 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:35703062C>T uc001zja.2 - 6 603 c.541G>A c.(541-543)GAT>AAT p.D181N ATPBD4_uc001ziz.2_Missense_Mutation_p.D165N NM_080650 NP_542381 Q7L8W6 ATBD4_HUMAN ATP binding domain 4 isoform 1 181 0 all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07) all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) TCCATTTGATCCAGGGTTTTC 0.343 12 35 --- --- --- --- PASS ATPBD4 89978 broad.mit.edu 37 15 35703063 35703063 + Silent SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:35703063C>A uc001zja.2 - 6 602 c.540G>T c.(538-540)CTG>CTT p.L180L ATPBD4_uc001ziz.2_Silent_p.L164L NM_080650 NP_542381 Q7L8W6 ATBD4_HUMAN ATP binding domain 4 isoform 1 180 0 all_epithelial(112;2.11e-09)|Lung NSC(122;2.38e-08)|all_lung(180;3.65e-07) all cancers(64;9.9e-19)|GBM - Glioblastoma multiforme(113;2.01e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252) CCATTTGATCCAGGGTTTTCC 0.343 12 34 --- --- --- --- PASS FAM82A2 55177 broad.mit.edu 37 15 41029865 41029865 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:41029865G>A uc001zmo.1 - 10 1329 c.1185C>T c.(1183-1185)CTC>CTT p.L395L FAM82A2_uc001zmp.1_Silent_p.L395L|FAM82A2_uc001zmq.1_Silent_p.L395L NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 395 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 CAGTGGCACTGAGAGGGCTTT 0.468 35 73 --- --- --- --- PASS CAPN3 825 broad.mit.edu 37 15 42693986 42693986 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:42693986C>G uc001zpn.1 + 11 1808 c.1502C>G c.(1501-1503)ACC>AGC p.T501S CAPN3_uc001zpk.1_Missense_Mutation_p.T274S|CAPN3_uc001zpl.1_Missense_Mutation_p.T414S|CAPN3_uc010udf.1_Missense_Mutation_p.T414S|CAPN3_uc010udg.1_Missense_Mutation_p.T366S|CAPN3_uc001zpo.1_Missense_Mutation_p.T501S|CAPN3_uc001zpp.1_Missense_Mutation_p.T453S|CAPN3_uc001zpq.1_5'Flank|CAPN3_uc010bcv.1_5'Flank|CAPN3_uc001zpr.1_5'Flank|CAPN3_uc001zps.1_5'Flank|CAPN3_uc001zpt.1_5'Flank NM_000070 NP_000061 P20807 CAN3_HUMAN calpain 3 isoform a 501 Domain III. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity central_nervous_system(1) 1 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) AGTCTCTTCACCATTGGCTTC 0.592 14 21 --- --- --- --- PASS CEP152 22995 broad.mit.edu 37 15 49081179 49081179 + Missense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:49081179G>C uc001zwy.2 - 9 1026 c.992C>G c.(991-993)ACA>AGA p.T331R CEP152_uc001zwz.2_Missense_Mutation_p.T331R|CEP152_uc001zxa.1_Missense_Mutation_p.T238R NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 331 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CATTTCAGTTGTTCTGGACTT 0.383 33 80 --- --- --- --- PASS DPP8 54878 broad.mit.edu 37 15 65790284 65790284 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:65790284C>A uc002aov.2 - 5 2259 c.681G>T c.(679-681)TGG>TGT p.W227C DPP8_uc002aow.2_Missense_Mutation_p.W227C|DPP8_uc010uiv.1_RNA|DPP8_uc002aox.2_Missense_Mutation_p.W211C|DPP8_uc002aoy.2_Missense_Mutation_p.W227C|DPP8_uc002aoz.2_Missense_Mutation_p.W211C|DPP8_uc010bhj.2_Missense_Mutation_p.W227C|DPP8_uc002apa.2_Missense_Mutation_p.W124C NM_130434 NP_569118 Q6V1X1 DPP8_HUMAN dipeptidyl peptidase 8 isoform 1 227 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity ovary(1) 1 TAAAAGCAATCCAGTCTGGAT 0.403 35 41 --- --- --- --- PASS DIS3L 115752 broad.mit.edu 37 15 66621404 66621404 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:66621404G>T uc010ujm.1 + 13 2313 c.2298G>T c.(2296-2298)ATG>ATT p.M766I DIS3L_uc002app.2_Missense_Mutation_p.M683I|DIS3L_uc010bho.2_Missense_Mutation_p.M632I NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 766 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 CGCAGGCCATGTCGAATGCTC 0.517 39 75 --- --- --- --- PASS MPI 4351 broad.mit.edu 37 15 75188595 75188595 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:75188595A>G uc002azc.1 + 6 778 c.773A>G c.(772-774)AAC>AGC p.N258S MPI_uc010ulv.1_Missense_Mutation_p.N258S|MPI_uc010ulw.1_Missense_Mutation_p.N147S|MPI_uc002azd.1_Missense_Mutation_p.N258S|MPI_uc010ulx.1_Missense_Mutation_p.N208S|MPI_uc002aze.1_Missense_Mutation_p.N197S NM_002435 NP_002426 P34949 MPI_HUMAN mannose-6- phosphate isomerase 258 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding ovary(2) 2 TACTTCCTGAACCTGCTTACC 0.547 46 117 --- --- --- --- PASS CHRNA3 1136 broad.mit.edu 37 15 78894275 78894275 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:78894275T>C uc002bec.2 - 5 895 c.709A>G c.(709-711)ATC>GTC p.I237V CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_Missense_Mutation_p.I237V NM_000743 NP_000734 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 237 Extracellular (Potential). I -> S (in Ref. 1; AAC84176). activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|ovary(1) 4 AGGCGCCGGATGTACAGCGAG 0.572 23 56 --- --- --- --- PASS CHSY1 22856 broad.mit.edu 37 15 101717972 101717972 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr15:101717972T>C uc002bwt.1 - 4 2513 c.2030A>G c.(2029-2031)AAC>AGC p.N677S CHSY1_uc010usd.1_Missense_Mutation_p.N405S NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 677 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGCAAAATGGTTGTCACTGGG 0.418 56 117 --- --- --- --- PASS IL4R 3566 broad.mit.edu 37 16 27374479 27374479 + Silent SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr16:27374479T>A uc002don.2 + 11 2048 c.1806T>A c.(1804-1806)GGT>GGA p.G602G IL4R_uc002dop.3_Silent_p.G587G|IL4R_uc010bxy.2_Silent_p.G602G|IL4R_uc002doo.2_Silent_p.G442G NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 602 Required for IL4-induced gene expression.|Cytoplasmic (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 GAGAGGCTGGTTACAAGGCCT 0.612 20 70 --- --- --- --- PASS LPCAT2 54947 broad.mit.edu 37 16 55608595 55608595 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr16:55608595T>C uc002eie.3 + 12 1449 c.1268T>C c.(1267-1269)TTG>TCG p.L423S LPCAT2_uc002eic.2_Missense_Mutation_p.L153S NM_017839 NP_060309 Q7L5N7 PCAT2_HUMAN lysophosphatidylcholine acyltransferase 2 423 Lumenal (Potential).|EF-hand 1. cellular membrane organization|platelet activating factor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding 0 CTGGCTGTCTTGTGCAACCCT 0.468 11 34 --- --- --- --- PASS CCDC135 84229 broad.mit.edu 37 16 57760055 57760055 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr16:57760055G>A uc002emi.2 + 13 1923 c.1834G>A c.(1834-1836)GCG>ACG p.A612T CCDC135_uc002emj.2_Missense_Mutation_p.A612T|CCDC135_uc002emk.2_Missense_Mutation_p.A547T NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 612 cytoplasm central_nervous_system(1) 1 GTTTCTGGTCGCGGAGGAGCG 0.632 22 77 --- --- --- --- PASS AARS 16 broad.mit.edu 37 16 70302213 70302213 + Silent SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr16:70302213G>C uc002eyn.1 - 8 1142 c.1032C>G c.(1030-1032)GGC>GGG p.G344G AARS_uc010vlu.1_Silent_p.G174G NM_001605 NP_001596 P49588 SYAC_HUMAN alanyl-tRNA synthetase 344 alanyl-tRNA aminoacylation|tRNA processing cytosol|soluble fraction alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding pancreas(1) 1 Ovarian(137;0.0365) BRCA - Breast invasive adenocarcinoma(221;0.161) L-Alanine(DB00160) TAGCAAAGAAGCCCCTGCTGG 0.498 25 76 --- --- --- --- PASS CHST6 4166 broad.mit.edu 37 16 75512961 75512961 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr16:75512961C>T uc002fef.2 - 3 946 c.766G>A c.(766-768)GCC>ACC p.A256T CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.A256T NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 256 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TTGAGTGTGGCGGCCTCGGCG 0.721 43 44 --- --- --- --- PASS C17orf97 400566 broad.mit.edu 37 17 263657 263657 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:263657C>T uc002frh.2 + 3 1069 c.1053C>T c.(1051-1053)GCC>GCT p.A351A C17orf97_uc010vpz.1_RNA NM_001013672 NP_001013694 Q6ZQX7 CQ097_HUMAN hypothetical protein LOC400566 371 18.|20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E. ovary(1) 1 ACCCCGAGGCCCTCAAGGGCT 0.697 5 55 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:7578208T>C uc002gim.2 - 6 835 c.641A>G c.(640-642)CAT>CGT p.H214R TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 214 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; 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.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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) CACCACACTATGTCGAAAAGT 0.542 111 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) 57 20 --- --- --- --- PASS KDM6B 23135 broad.mit.edu 37 17 7751014 7751014 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:7751014C>G uc002giw.1 + 11 1784 c.1408C>G c.(1408-1410)CCA>GCA p.P470A KDM6B_uc002gix.2_5'UTR NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 470 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 ctcaccccctccacccccctg 0.333 4 7 --- --- --- --- PASS SREBF1 6720 broad.mit.edu 37 17 17722421 17722421 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:17722421C>A uc002gru.1 - 5 1168 c.974G>T c.(973-975)CGC>CTC p.R325L SREBF1_uc002grp.1_5'Flank|SREBF1_uc002grq.1_5'UTR|SREBF1_uc002grr.1_Missense_Mutation_p.R71L|SREBF1_uc002grs.1_Missense_Mutation_p.R301L|SREBF1_uc002grt.1_Missense_Mutation_p.R355L|SREBF1_uc010cpp.1_Missense_Mutation_p.R301L|SREBF1_uc010cpq.1_Missense_Mutation_p.R325L NM_004176 NP_004167 P36956 SRBP1_HUMAN sterol regulatory element binding transcription 325 Cytoplasmic (Potential).|Basic motif.|Interaction with LMNA (By similarity). cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding skin(1) 1 GTGGGCTGTGCGCTTCTCTCC 0.597 29 166 --- --- --- --- PASS RAB34 83871 broad.mit.edu 37 17 27043983 27043983 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:27043983C>T uc002hce.2 - 2 708 c.84G>A c.(82-84)GGG>GGA p.G28G RAB34_uc002hcg.2_Silent_p.G28G|RAB34_uc002hcf.2_Silent_p.G28G|RAB34_uc010was.1_Silent_p.G85G|RAB34_uc010wat.1_Silent_p.G85G|RAB34_uc002hch.2_Silent_p.G28G|RAB34_uc010wau.1_Silent_p.G28G|RAB34_uc010wav.1_Silent_p.G85G NM_031934 NP_114140 Q9BZG1 RAB34_HUMAN Ras-related protein RAB34 isoform 1 28 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 Lung NSC(42;0.00431) AGTCTTTGTGCCCGTGCAAAG 0.637 5 230 --- --- --- --- PASS MED1 5469 broad.mit.edu 37 17 37565861 37565861 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:37565861G>A uc002hrv.3 - 17 2825 c.2613C>T c.(2611-2613)AAC>AAT p.N871N MED1_uc010wee.1_Silent_p.N699N|MED1_uc002hru.2_Intron NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 871 Interaction with ESR1. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) GGCTCTGGCTGTTCAATAAAT 0.398 HNSCC(31;0.082) 26 89 --- --- --- --- PASS CCDC43 124808 broad.mit.edu 37 17 42761315 42761315 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:42761315G>A uc002ihc.2 - 2 261 c.217C>T c.(217-219)CTC>TTC p.L73F CCDC43_uc010czw.1_Missense_Mutation_p.L73F NM_144609 NP_653210 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 isoform 1 73 0 Prostate(33;0.0322) ATATTAAGGAGGGAATCTTCT 0.393 11 23 --- --- --- --- PASS KIAA1267 284058 broad.mit.edu 37 17 44249081 44249081 + Silent SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:44249081C>A uc002ikb.2 - 1 514 c.429G>T c.(427-429)ACG>ACT p.T143T KIAA1267_uc002ikc.2_Silent_p.T143T|KIAA1267_uc002ikd.2_Silent_p.T143T|KIAA1267_uc010dav.2_Silent_p.T143T NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 143 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) TCTGACCACTCGTATTCATGG 0.438 5 439 --- --- --- --- PASS SPAG9 9043 broad.mit.edu 37 17 49197943 49197943 + Silent SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:49197943G>A uc002itc.2 - 1 284 c.75C>T c.(73-75)TCC>TCT p.S25S SPAG9_uc002itb.2_Silent_p.S25S|SPAG9_uc002itd.2_Silent_p.S25S NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 25 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CGGCCAGGCCGGACACCCGCT 0.627 9 17 --- --- --- --- PASS KCNH6 81033 broad.mit.edu 37 17 61619602 61619602 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:61619602G>A uc002jay.2 + 9 2035 c.1955G>A c.(1954-1956)GGA>GAA p.G652E KCNH6_uc010wpl.1_Missense_Mutation_p.G529E|KCNH6_uc010wpm.1_Missense_Mutation_p.G652E|KCNH6_uc002jaz.1_Missense_Mutation_p.G599E NM_030779 NP_110406 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H, 652 cNMP.|Cytoplasmic (Potential). regulation of transcription, DNA-dependent|signal transduction skin(1) 1 Ibutilide(DB00308) TGGCTGGCAGGAAAGAATGAC 0.587 16 40 --- --- --- --- PASS ABCA8 10351 broad.mit.edu 37 17 66914254 66914254 + Nonsense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:66914254C>A uc002jhp.2 - 14 2040 c.1861G>T c.(1861-1863)GAA>TAA p.E621* ABCA8_uc002jhq.2_Nonsense_Mutation_p.E661*|ABCA8_uc010wqq.1_Nonsense_Mutation_p.E661*|ABCA8_uc010wqr.1_Nonsense_Mutation_p.E600*|ABCA8_uc002jhr.2_Nonsense_Mutation_p.E661* NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 621 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) GTTTTGCGTTCTTTCAGAAGG 0.463 11 43 --- --- --- --- PASS P4HB 5034 broad.mit.edu 37 17 79801949 79801949 + Missense_Mutation SNP T G G rs148124283 TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:79801949T>G uc002kbn.1 - 11 1663 c.1466A>C c.(1465-1467)GAA>GCA p.E489A P4HB_uc002kbl.1_Missense_Mutation_p.E166A|P4HB_uc002kbm.1_Missense_Mutation_p.E166A NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 489 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) CTCCTCTGCTTCTTCCAGGTC 0.612 79 279 --- --- --- --- PASS P4HB 5034 broad.mit.edu 37 17 79801950 79801950 + Nonsense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:79801950C>A uc002kbn.1 - 11 1662 c.1465G>T c.(1465-1467)GAA>TAA p.E489* P4HB_uc002kbl.1_Nonsense_Mutation_p.E166*|P4HB_uc002kbm.1_Nonsense_Mutation_p.E166* NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 489 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCCTCTGCTTCTTCCAGGTCC 0.607 80 278 --- --- --- --- PASS P4HB 5034 broad.mit.edu 37 17 79803533 79803533 + Silent SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr17:79803533G>C uc002kbn.1 - 9 1460 c.1263C>G c.(1261-1263)GTC>GTG p.V421V P4HB_uc002kbl.1_Silent_p.V98V|P4HB_uc002kbm.1_Silent_p.V98V NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 421 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCTTGGCGATGACGATGTTCT 0.542 9 30 --- --- --- --- PASS APCDD1 147495 broad.mit.edu 37 18 10487807 10487807 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr18:10487807C>T uc002kom.3 + 5 1671 c.1317C>T c.(1315-1317)AAC>AAT p.N439N NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 439 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) TGCTGTTCAACGGTCAGAGGC 0.607 14 127 --- --- --- --- PASS CHST9 83539 broad.mit.edu 37 18 24496806 24496806 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr18:24496806T>A uc002kwd.2 - 5 947 c.749A>T c.(748-750)CAC>CTC p.H250L C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron|CHST9_uc002kwc.2_Missense_Mutation_p.H165L|CHST9_uc002kwe.2_Missense_Mutation_p.H250L NM_031422 NP_113610 Q7L1S5 CHST9_HUMAN GalNAc-4-sulfotransferase 2 250 Lumenal (Potential). carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity ovary(2)|skin(1) 3 all_lung(6;0.0145)|Ovarian(20;0.124) CTTCCCGTAGTGGACAGCATT 0.428 26 28 --- --- --- --- PASS ARID3A 1820 broad.mit.edu 37 19 960131 960131 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:960131C>G uc002lql.2 + 4 1023 c.733C>G c.(733-735)CTG>GTG p.L245V NM_005224 NP_005215 Q99856 ARI3A_HUMAN AT rich interactive domain 3A (BRIGHT- like) 245 ARID. cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGGAATTCCTGGATGACTT 0.597 39 68 --- --- --- --- PASS ANKRD24 170961 broad.mit.edu 37 19 4219654 4219654 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:4219654G>A uc010dtt.1 + 19 3346 c.3070G>A c.(3070-3072)GAG>AAG p.E1024K NM_133475 NP_597732 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1024 Potential. 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) GGCCACAGCAGAGCAGCAGCT 0.652 70 138 --- --- --- --- PASS INSR 3643 broad.mit.edu 37 19 7163054 7163054 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:7163054T>C uc002mgd.1 - 9 2127 c.2018A>G c.(2017-2019)TAT>TGT p.Y673C INSR_uc002mge.1_Missense_Mutation_p.Y673C|INSR_uc002mgf.2_Missense_Mutation_p.Y673C NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 673 Fibronectin type-III 1. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTGAGGCAATAATCCAGCTC 0.547 27 145 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10602649 10602649 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:10602649A>G uc002moq.1 - 3 1085 c.929T>C c.(928-930)CTG>CCG p.L310P KEAP1_uc002mop.1_Missense_Mutation_p.L28P|KEAP1_uc002mor.1_Missense_Mutation_p.L310P NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 310 Nuclear export signal. L->A: Loss of export from nucleus; when associated with A-308. 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) GGGCTTGTGCAGGGTGAGCTC 0.637 47 79 --- --- --- --- PASS DNAJB1 3337 broad.mit.edu 37 19 14627679 14627679 + Missense_Mutation SNP A C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:14627679A>C uc002myz.1 - 2 431 c.391T>G c.(391-393)TTC>GTC p.F131V DNAJB1_uc010xnr.1_Missense_Mutation_p.F31V NM_006145 NP_006136 P25685 DNJB1_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 1 131 chaperone cofactor-dependent protein refolding|response to unfolded protein cytoplasm|nucleolus heat shock protein binding|unfolded protein binding 0 GBM - Glioblastoma multiforme(1328;0.0476) AAGCCAGAGAATGGGTCATCA 0.567 94 128 --- --- --- --- PASS ARRDC2 27106 broad.mit.edu 37 19 18119344 18119344 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:18119344C>T uc002nhv.2 + 1 368 c.225C>T c.(223-225)TAC>TAT p.Y75Y ARRDC2_uc002nhu.2_Intron NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 75 pancreas(1) 1 CGCAGAGCTACAGTGAACGCG 0.711 9 19 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23556594 23556594 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:23556594C>T uc002nre.2 - 3 316 c.203G>A c.(202-204)GGA>GAA p.G68E ZNF91_uc010xrj.1_Intron NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 68 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGGCTCTTTTCCTTGCTCCAG 0.433 19 74 --- --- --- --- PASS SPTBN4 57731 broad.mit.edu 37 19 41040049 41040049 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:41040049C>T uc002ony.2 + 20 4244 c.4158C>T c.(4156-4158)GGC>GGT p.G1386G SPTBN4_uc002onx.2_Silent_p.G1386G|SPTBN4_uc002onz.2_Silent_p.G1386G|SPTBN4_uc010egx.2_Silent_p.G129G|SPTBN4_uc010egy.1_Silent_p.G62G|SPTBN4_uc002ooa.2_Silent_p.G62G|SPTBN4_uc010egz.1_Silent_p.G62G NM_020971 NP_066022 Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 isoform 1386 Spectrin 11. 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) AGAAGCTGGGCGAGATCCGCC 0.637 8 12 --- --- --- --- PASS CYP2B6 1555 broad.mit.edu 37 19 41512931 41512931 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:41512931C>G uc002opr.1 + 4 613 c.606C>G c.(604-606)TTC>TTG p.F202L CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Intron NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 202 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) TGAACTTGTTCTACCAGACTT 0.512 38 86 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47207510 47207510 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:47207510T>C uc002pfh.2 - 6 1147 c.805A>G c.(805-807)ATC>GTC p.I269V PRKD2_uc002pfg.2_Missense_Mutation_p.I112V|PRKD2_uc002pfi.2_Missense_Mutation_p.I269V|PRKD2_uc002pfj.2_Missense_Mutation_p.I269V|PRKD2_uc010xye.1_Missense_Mutation_p.I269V|PRKD2_uc002pfk.2_Missense_Mutation_p.I112V NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 269 Phorbol-ester/DAG-type 2. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) TAGCTGTGGATGAGGAAGGTG 0.582 OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 86 --- --- --- --- PASS PPP1R15A 23645 broad.mit.edu 37 19 49378889 49378889 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:49378889G>A uc002pky.3 + 3 1953 c.1684G>A c.(1684-1686)GTC>ATC p.V562I NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 562 Interaction with SMARCB1. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) CTCCGAGAAGGTCACTGTCCA 0.687 62 59 --- --- --- --- PASS SHANK1 50944 broad.mit.edu 37 19 51165736 51165736 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:51165736C>T uc002psx.1 - 23 5991 c.5972G>A c.(5971-5973)CGG>CAG p.R1991Q SHANK1_uc002psw.1_Missense_Mutation_p.R1375Q NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1991 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CAGAGGGGGCCGCATCTCGAA 0.741 5 3 --- --- --- --- PASS ZNF616 90317 broad.mit.edu 37 19 52633754 52633754 + Silent SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr19:52633754C>T uc002pym.2 - 2 295 c.12G>A c.(10-12)CAG>CAA p.Q4Q ZNF616_uc002pyn.2_RNA NM_178523 NP_848618 Q08AN1 ZN616_HUMAN zinc finger protein 616 4 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ATCACTCTACCTGAGTAGCCA 0.413 47 30 --- --- --- --- PASS C20orf96 140680 broad.mit.edu 37 20 259859 259859 + Missense_Mutation SNP G A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr20:259859G>A uc002wde.1 - 5 558 c.419C>T c.(418-420)ACG>ATG p.T140M C20orf96_uc002wdc.2_Missense_Mutation_p.T87M|C20orf96_uc002wdd.2_Missense_Mutation_p.T105M|C20orf96_uc010zpi.1_Missense_Mutation_p.T87M|C20orf96_uc010zpj.1_Missense_Mutation_p.T105M|C20orf96_uc010zpk.1_Missense_Mutation_p.T78M NM_153269 NP_695001 Q9NUD7 CT096_HUMAN hypothetical protein LOC140680 140 Potential. 0 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) GTGCAGGGTCGTGCTGTTCTC 0.567 31 55 --- --- --- --- PASS CDS2 8760 broad.mit.edu 37 20 5157335 5157335 + Silent SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr20:5157335T>A uc002wls.2 + 4 590 c.333T>A c.(331-333)ACT>ACA p.T111T CDS2_uc002wlr.1_Silent_p.T33T|CDS2_uc010zqt.1_RNA|CDS2_uc002wlu.2_Silent_p.T56T|CDS2_uc010zqu.1_Intron|CDS2_uc002wlv.2_Silent_p.T13T|CDS2_uc010zqv.1_5'Flank NM_003818 NP_003809 O95674 CDS2_HUMAN phosphatidate cytidylyltransferase 2 111 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity 0 AGATAATCACTATTGGCTACA 0.453 8 131 --- --- --- --- PASS EMILIN3 90187 broad.mit.edu 37 20 39990911 39990911 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr20:39990911T>C uc002xjy.1 - 4 1522 c.1298A>G c.(1297-1299)GAC>GGC p.D433G NM_052846 NP_443078 Q9NT22 EMIL3_HUMAN elastin microfibril interfacer 3 433 proteinaceous extracellular matrix ovary(1) 1 Myeloproliferative disorder(115;0.00425) AAGCAGCCCGTCCACACCTCC 0.667 85 184 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57428683 57428683 + Silent SNP T G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr20:57428683T>G uc002xzw.2 + 1 648 c.363T>G c.(361-363)CCT>CCG p.P121P GNASAS_uc002xzs.1_5'Flank|GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TGGAGCAGCCTGGATTCCCCA 0.632 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 33 56 --- --- --- --- PASS POTED 317754 broad.mit.edu 37 21 14982968 14982968 + Missense_Mutation SNP T A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr21:14982968T>A uc002yjb.1 + 1 471 c.419T>A c.(418-420)CTG>CAG p.L140Q NM_174981 NP_778146 Q86YR6 POTED_HUMAN pote protein 140 plasma membrane ovary(3)|skin(3) 6 CGAGAAGATCTGGACAAGCTC 0.582 72 30 --- --- --- --- PASS KRTAP19-3 337970 broad.mit.edu 37 21 31864238 31864238 + Missense_Mutation SNP T C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr21:31864238T>C uc002yog.1 - 1 38 c.38A>G c.(37-39)TAT>TGT p.Y13C NM_181609 NP_853640 Q7Z4W3 KR193_HUMAN keratin associated protein 19-3 13 intermediate filament 0 TCCACAGCCATAGCCCAGGCC 0.557 55 36 --- --- --- --- PASS COL6A2 1292 broad.mit.edu 37 21 47541030 47541030 + Missense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr21:47541030G>C uc002zia.1 + 17 1533 c.1451G>C c.(1450-1452)GGA>GCA p.G484A COL6A2_uc002zhy.1_Missense_Mutation_p.G484A|COL6A2_uc002zhz.1_Missense_Mutation_p.G484A|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor 484 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) GGGGAGCCCGGAAAGCAGGTC 0.642 20 49 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23165714 23165714 + RNA SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr22:23165714C>A uc011aim.1 + 287 c.13276C>A Parts of antibodies, mostly variable regions. 0 CCTCCCTGACCGTCTCTGGGC 0.522 76 269 --- --- --- --- PASS SLC5A1 6523 broad.mit.edu 37 22 32506172 32506172 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr22:32506172C>A uc003amc.2 + 15 2199 c.1967C>A c.(1966-1968)GCT>GAT p.A656D SLC5A1_uc011alz.1_Missense_Mutation_p.A529D NM_000343 NP_000334 P13866 SC5A1_HUMAN solute carrier family 5 (sodium/glucose 656 Helical; (Potential). carbohydrate metabolic process integral to plasma membrane glucose:sodium symporter activity|protein binding skin(1) 1 GTGACCGTGGCTGTCTTTTGC 0.483 13 79 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38119859 38119859 + Silent SNP C T T rs66505048 TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr22:38119859C>T uc003atr.2 + 7 1567 c.1296C>T c.(1294-1296)TGC>TGT p.C432C TRIOBP_uc003atu.2_Silent_p.C260C|TRIOBP_uc003atq.1_Silent_p.C432C|TRIOBP_uc003ats.1_Silent_p.C260C NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 432 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GAACATCCTGCGCCCAGCGGG 0.582 5 239 --- --- --- --- PASS MOV10L1 54456 broad.mit.edu 37 22 50555692 50555692 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr22:50555692G>T uc003bjj.2 + 9 1449 c.1366G>T c.(1366-1368)GCG>TCG p.A456S MOV10L1_uc003bjk.3_Missense_Mutation_p.A456S|MOV10L1_uc011arp.1_Missense_Mutation_p.A436S|MOV10L1_uc011arq.1_Missense_Mutation_p.A217S|MOV10L1_uc010hao.1_RNA NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN MOV10-like 1 isoform 1 456 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding ovary(2)|skin(1) 3 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) ACTAATTGCTGCGCGCGAACC 0.443 38 51 --- --- --- --- PASS MAGEB18 286514 broad.mit.edu 37 X 26157221 26157221 + Missense_Mutation SNP C T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chrX:26157221C>T uc004dbq.1 + 2 306 c.119C>T c.(118-120)TCT>TTT p.S40F NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 40 protein binding central_nervous_system(1) 1 TCACCCTCCCCTGCCTATCTT 0.577 8 15 --- --- --- --- PASS MAGEB2 4113 broad.mit.edu 37 X 30237487 30237487 + Missense_Mutation SNP C G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chrX:30237487C>G uc004dbz.2 + 2 893 c.790C>G c.(790-792)CCC>GCC p.P264A NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 264 MAGE. protein binding ovary(1) 1 CAAGCAGGTGCCCAGCAGTGA 0.512 19 5 --- --- --- --- PASS KDM6A 7403 broad.mit.edu 37 X 44896929 44896929 + Missense_Mutation SNP A G G TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chrX:44896929A>G uc004dge.3 + 8 1024 c.649A>G c.(649-651)ACC>GCC p.T217A KDM6A_uc010nhk.2_Missense_Mutation_p.T217A|KDM6A_uc011mkz.1_Missense_Mutation_p.T217A|KDM6A_uc011mla.1_Missense_Mutation_p.T217A|KDM6A_uc011mlb.1_Missense_Mutation_p.T217A|KDM6A_uc011mlc.1_5'UTR NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 217 TPR 4. histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(2)|p.?(1) kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 CTTATATGAAACCCAGGTAAG 0.299 D|N|F|S renal|oesophageal SCC|MM 9 10 --- --- --- --- PASS CCNB3 85417 broad.mit.edu 37 X 50052359 50052359 + Missense_Mutation SNP G C C TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chrX:50052359G>C uc004dox.3 + 6 1488 c.1190G>C c.(1189-1191)CGT>CCT p.R397P CCNB3_uc004doy.2_Missense_Mutation_p.R397P|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 397 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) AAGAGGTCCCGTCTGAAGCCA 0.468 5 22 --- --- --- --- PASS NKRF 55922 broad.mit.edu 37 X 118723942 118723942 + Silent SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chrX:118723942C>A uc004erq.2 - 2 2099 c.1446G>T c.(1444-1446)GTG>GTT p.V482V NKRF_uc004err.2_Silent_p.V482V NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 482 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 TCTCTAGAATCACTTTGCATT 0.463 5 87 --- --- --- --- PASS ARHGEF6 9459 broad.mit.edu 37 X 135795454 135795454 + Missense_Mutation SNP G T T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chrX:135795454G>T uc004fab.2 - 7 1270 c.808C>A c.(808-810)CCC>ACC p.P270T ARHGEF6_uc011mwd.1_Missense_Mutation_p.P143T|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P116T NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 270 DH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) GACTGCAGGGGTCTTAAGTAA 0.323 25 8 --- --- --- --- PASS SOX3 6658 broad.mit.edu 37 X 139586835 139586835 + Missense_Mutation SNP C A A TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chrX:139586835C>A uc004fbd.1 - 1 391 c.391G>T c.(391-393)GGC>TGC p.G131C NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 131 Poly-Gly. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) GTACCCCCGCCACCTCCGCTC 0.706 26 12 --- --- --- --- PASS CHPF 79586 broad.mit.edu 37 2 220406348 220406362 + In_Frame_Del DEL CCAGTGCAGCCCACC - - TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr2:220406348_220406362delCCAGTGCAGCCCACC uc002vmc.3 - 2 1091_1105 c.864_878delGGTGGGCTGCACTGG c.(862-879)GGGGTGGGCTGCACTGGT>GGT p.288_293GVGCTG>G CHPF_uc010zlh.1_In_Frame_Del_p.126_131GVGCTG>G|CHPF_uc002vmd.3_In_Frame_Del_p.288_293GVGCTG>G|TMEM198_uc002vme.2_5'Flank|TMEM198_uc002vmf.2_5'Flank NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 288_293 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CTCGTGGTCACCAGTGCAGCCCACCCCGGTGGCAT 0.526 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 8 --- --- --- --- MAGI1 9223 broad.mit.edu 37 3 65415667 65415667 + Frame_Shift_Del DEL G - - TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr3:65415667delG uc003dmn.2 - 12 2221 c.1695delC c.(1693-1695)CCCfs p.P565fs MAGI1_uc003dmm.2_Frame_Shift_Del_p.P565fs|MAGI1_uc003dmo.2_Frame_Shift_Del_p.P565fs|MAGI1_uc003dmp.2_Frame_Shift_Del_p.P565fs|MAGI1_uc010hny.2_Frame_Shift_Del_p.P450fs NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 565 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AACTTGTATTGGGGTCATCTG 0.453 28 22 --- --- --- --- ZNF107 51427 broad.mit.edu 37 7 64169016 64169017 + In_Frame_Ins INS - GAA GAA TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr7:64169016_64169017insGAA uc003ttd.2 + 7 3120_3121 c.2334_2335insGAA c.(2332-2337)insGAA p.779_780insE ZNF107_uc003tte.2_In_Frame_Ins_p.779_780insE NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 779_780 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) CCTACAAATGTGAGTATGGCAA 0.351 4 2 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21971114 21971114 + Frame_Shift_Del DEL C - - TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr9:21971114delC uc003zpk.2 - 2 456 c.244delG c.(244-246)GTGfs p.V82fs MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Frame_Shift_Del_p.R137fs NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 82 ANK 3. cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.V82M(2)|p.V82V(1)|p.T79fs*37(1)|p.V82fs*62(1)|p.V82_E88del(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.P81_A85del(1)|p.R80fs*34(1)|p.V82L(1)|p.P81fs*38(1)|p.V82fs*44(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCGTCGTGCACGGGTCGGGTG 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 28 21 --- --- --- --- OR5W2 390148 broad.mit.edu 37 11 55681566 55681566 + Frame_Shift_Del DEL G - - rs61749302 byFrequency TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr11:55681566delG uc010rir.1 - 1 493 c.493delC c.(493-495)CGCfs p.R165fs NM_001001960 NP_001001960 Q8NH69 OR5W2_HUMAN olfactory receptor, family 5, subfamily W, 165 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AAGCATAGGCGGAAGGCCAGT 0.428 50 33 --- --- --- --- ADAM6 8755 broad.mit.edu 37 14 106790941 106790942 + RNA DEL TC - - TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx e04814f8-a51f-4b6b-a4e9-bd8d2291817c ed230819-c882-4247-9e1a-66fc4876e648 g.chr14:106790941_106790942delTC uc010tyt.1 - 387 c.14676_14677delGA Parts of antibodies, mostly variable regions. 0 GCCGCTGATTTCCCGCCAGCGT 0.584 0 8 --- --- --- ---