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 NBPF1 55672 broad.mit.edu 37 1 16893838 16893838 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr1:16893838C>T uc009vos.1 - 26 3788 c.2900G>A c.(2899-2901)AGG>AAG p.R967K NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K NM_017940 NP_060410 Q3BBV0 NBPF1_HUMAN hypothetical protein LOC55672 967 NBPF 6. cytoplasm 0 UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGCAGCTCCCTGCTGAGCCT 0.473 PLK3 1263 broad.mit.edu 37 1 45271002 45271002 + Missense_Mutation SNP T C C TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr1:45271002T>C uc001cmn.2 + 14 1800 c.1700T>C c.(1699-1701)GTC>GCC p.V567A PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 567 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) CTGCAGTGGGTCAAGACGGAT 0.602 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A G G rs146714035 by1000genomes TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr1:145367739A>G uc001end.3 + 85 10595 c.10560A>G c.(10558-10560)AAA>AAG p.K3520K NBPF9_uc010oye.1_Intron|NBPF10_uc001emp.3_Intron|NBPF10_uc010oyi.1_Intron|NBPF10_uc010oyk.1_Intron|NBPF10_uc010oyl.1_Intron NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 3445 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.244 PIK3C2B 5287 broad.mit.edu 37 1 204438072 204438072 + Frame_Shift_Del DEL G - - rs115574296 by1000genomes TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr1:204438072delG uc001haw.2 - 3 1338 c.859delC c.(859-861)CGCfs p.R287fs PIK3C2B_uc010pqv.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc001hax.1_Frame_Shift_Del_p.R287fs|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 287 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GCATAGGTGCGGGGGGGCACC 0.622 LGALS8 3964 broad.mit.edu 37 1 236700824 236700824 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr1:236700824G>A uc001hxz.1 + 4 454 c.73G>A c.(73-75)GAT>AAT p.D25N LGALS8_uc001hxw.1_Missense_Mutation_p.D25N|LGALS8_uc001hxy.1_Missense_Mutation_p.D25N|LGALS8_uc009xgg.1_RNA|LGALS8_uc001hya.1_Missense_Mutation_p.D25N|LGALS8_uc001hyb.1_Missense_Mutation_p.D25N|LGALS8_uc001hyc.1_Missense_Mutation_p.D25N NM_201543 NP_963837 O00214 LEG8_HUMAN galectin-8 isoform b 25 Galectin 1. cytoplasm|extracellular space sugar binding ovary(1) 1 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.0253)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) CACCATTCCTGATCAGCTGGA 0.393 APBB1IP 54518 broad.mit.edu 37 10 26849669 26849672 + Frame_Shift_Del DEL CTCT - - rs145279460 TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr10:26849669_26849672delCTCT uc001iss.2 + 13 1586_1589 c.1265_1268delCTCT c.(1264-1269)ACTCTCfs p.T422fs NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 422_423 L -> F (in Ref. 1; BAC41256). blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 TATGGGAAGACTCTCTATGATAAC 0.461 SYT15 83849 broad.mit.edu 37 10 46965845 46965845 + Missense_Mutation SNP G T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr10:46965845G>T uc001jea.2 - 5 845 c.692C>A c.(691-693)TCC>TAC p.S231Y SYT15_uc001jdz.2_Missense_Mutation_p.S231Y|SYT15_uc001jeb.2_Missense_Mutation_p.S109Y|SYT15_uc010qfp.1_RNA NM_031912 NP_114118 Q9BQS2 SYT15_HUMAN synaptotagmin XV isoform a 231 Cytoplasmic (Potential).|C2 1. integral to membrane|plasma membrane 0 GTGGTAGACGGAGAACTTCAG 0.622 PTEN 5728 broad.mit.edu 37 10 89692911 89692911 + Missense_Mutation SNP G A A rs121909241 TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr10:89692911G>A uc001kfb.2 + 6 1426 c.395G>A c.(394-396)GGT>GAT p.G132D NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 132 Phosphatase tensin-type. G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.G132D(5)|p.R55fs*1(4)|p.?(2)|p.G132S(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G132V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.G132fs*2(1)|p.G132R(1)|p.T131fs*42(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GGACGAACTGGTGTAATGATA 0.398 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) PSD 5662 broad.mit.edu 37 10 104171572 104171572 + Missense_Mutation SNP A G G TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr10:104171572A>G uc001kvg.1 - 8 2361 c.1834T>C c.(1834-1836)TTT>CTT p.F612L PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Missense_Mutation_p.F233L|PSD_uc009xxd.1_Missense_Mutation_p.F612L NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 612 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) TCCTTCAGAAACACCCTGGAG 0.582 OR8K3 219473 broad.mit.edu 37 11 56086192 56086192 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr11:56086192C>T uc010rjf.1 + 1 410 c.410C>T c.(409-411)TCA>TTA p.S137L NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(21;0.00448) GTAATCATGTCACGAAGGGTA 0.413 OR5B3 441608 broad.mit.edu 37 11 58170525 58170525 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr11:58170525G>A uc010rkf.1 - 1 358 c.358C>T c.(358-360)CGC>TGC p.R120C NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 120 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCTGCATAGCGGTCATAGGCC 0.468 CLPB 81570 broad.mit.edu 37 11 72114088 72114088 + Nonsense_Mutation SNP G C C TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr11:72114088G>C uc001osj.2 - 3 514 c.464C>G c.(463-465)TCA>TGA p.S155* CLPB_uc010rqx.1_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.1_Intron|CLPB_uc001osk.2_Nonsense_Mutation_p.S155*|CLPB_uc009ytg.2_RNA|CLPB_uc010rqz.1_Intron NM_030813 NP_110440 Q9H078 CLPB_HUMAN caseinolytic peptidase B 155 ANK 1. cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding pancreas(1) 1 TGCACCTTCTGACAACAGCCT 0.458 MMP1 4312 broad.mit.edu 37 11 102665949 102665949 + Missense_Mutation SNP A T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr11:102665949A>T uc001phi.2 - 6 998 c.855T>A c.(853-855)GAT>GAA p.D285E uc001phh.1_RNA|MMP1_uc010ruv.1_Missense_Mutation_p.D219E NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 285 Hemopexin-like 1. Calcium 4; via carbonyl oxygen (By similarity). blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) TAGTTATAGCATCAAAGGTTA 0.403 DSCAML1 57453 broad.mit.edu 37 11 117329509 117329509 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr11:117329509C>T uc001prh.1 - 19 3711 c.3709G>A c.(3709-3711)GTA>ATA p.V1237I NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1177 Fibronectin type-III 3.|Extracellular (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTGCTGCGTACGCCGTCCCCA 0.652 KIAA1467 57613 broad.mit.edu 37 12 13215874 13215874 + Missense_Mutation SNP C G G TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr12:13215874C>G uc001rbi.2 + 5 840 c.817C>G c.(817-819)CGA>GGA p.R273G KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 273 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) AGACGGTGTTCGAGACCTTGT 0.448 PIK3C2G 5288 broad.mit.edu 37 12 18435551 18435551 + Missense_Mutation SNP A G G TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr12:18435551A>G uc001rdt.2 + 2 652 c.536A>G c.(535-537)AAT>AGT p.N179S PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.1_5'UTR NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 179 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) CCTCCAACAAATTCATCCTTC 0.343 TMEM132D 121256 broad.mit.edu 37 12 129559351 129559351 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr12:129559351G>A uc009zyl.1 - 9 2697 c.2369C>T c.(2368-2370)ACG>ATG p.T790M TMEM132D_uc001uia.2_Missense_Mutation_p.T328M NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 790 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GATGTTTGCCGTTCCAACAGC 0.483 ADCY4 196883 broad.mit.edu 37 14 24787905 24787905 + Silent SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr14:24787905G>A uc001wov.2 - 24 3042 c.3036C>T c.(3034-3036)AAC>AAT p.N1012N ADCY4_uc001wow.2_Silent_p.N1012N|ADCY4_uc010toh.1_Silent_p.N698N|ADCY4_uc001wox.2_Silent_p.N1012N|ADCY4_uc001woy.2_Silent_p.N1012N NM_139247 NP_640340 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 1012 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding ovary(1)|lung(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(265;0.0192) GGCTGGCCACGTTCACTGTGT 0.537 SERPINA1 5265 broad.mit.edu 37 14 94849557 94849557 + Silent SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr14:94849557C>T uc001ycx.3 - 2 279 c.18G>A c.(16-18)TCG>TCA p.S6S SERPINA1_uc001ycw.3_RNA|SERPINA1_uc010auw.2_Silent_p.S6S|SERPINA1_uc010aux.2_Silent_p.S6S|SERPINA1_uc001ycy.3_Silent_p.S6S|SERPINA1_uc010auy.2_Silent_p.S6S|SERPINA1_uc001ycz.3_Silent_p.S6S|SERPINA1_uc010auz.2_Silent_p.S6S|SERPINA1_uc010ava.2_Silent_p.S6S|SERPINA1_uc001ydb.3_Silent_p.S6S|SERPINA1_uc010avb.2_Silent_p.S6S|SERPINA1_uc001ydc.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S NM_000295 NP_000286 P01009 A1AT_HUMAN serine proteinase inhibitor, clade A, member 1 6 acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity skin(1) 1 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) GGATGCCCCACGAGACAGAAG 0.612 Alpha-1-Antitrypsin_Deficiency RYR3 6263 broad.mit.edu 37 15 34064164 34064164 + Nonsense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr15:34064164C>T uc001zhi.2 + 63 8930 c.8860C>T c.(8860-8862)CGA>TGA p.R2954* RYR3_uc010bar.2_Nonsense_Mutation_p.R2954* NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2954 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GGCTGGGTTACGAGCATTCTT 0.448 ODF4 146852 broad.mit.edu 37 17 8243551 8243551 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr17:8243551G>A uc002gle.1 + 1 364 c.182G>A c.(181-183)CGC>CAC p.R61H NM_153007 NP_694552 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 61 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1) 1 TTGGGCCAGCGCCAGAACTCT 0.587 PPP1R1B 84152 broad.mit.edu 37 17 37791907 37791907 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr17:37791907C>T uc002hrz.2 + 6 960 c.493C>T c.(493-495)CGC>TGC p.R165C PPP1R1B_uc002hsa.2_Missense_Mutation_p.R176C|PPP1R1B_uc010cvx.2_Missense_Mutation_p.R132C|PPP1R1B_uc002hsb.2_Missense_Mutation_p.R129C|PPP1R1B_uc002hsc.2_Missense_Mutation_p.R129C|STARD3_uc010weg.1_5'Flank|STARD3_uc002hsd.2_5'Flank|STARD3_uc010weh.1_5'Flank|STARD3_uc002hse.2_5'Flank|STARD3_uc010wei.1_5'Flank NM_032192 NP_115568 Q9UD71 PPR1B_HUMAN protein phosphatase 1, regulatory (inhibitor) 165 signal transduction cytosol protein kinase inhibitor activity|protein phosphatase inhibitor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) GCCCTGGGAGCGCCCACCCCC 0.582 INTS2 57508 broad.mit.edu 37 17 59952385 59952385 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr17:59952385G>A uc002izn.2 - 19 2571 c.2495C>T c.(2494-2496)ACG>ATG p.T832M INTS2_uc002izm.2_Missense_Mutation_p.T824M NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 832 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 TGCATTAACCGTCATTACCCA 0.343 TANC2 26115 broad.mit.edu 37 17 61271350 61271350 + Splice_Site SNP A G G TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr17:61271350A>G uc002jal.3 + 4 235 c.212_splice c.e4-2 p.G71_splice TANC2_uc010wpe.1_5'Flank NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and binding ovary(2) 2 TTCTTGTTACAGGTGATGCTG 0.423 PCYT2 5833 broad.mit.edu 37 17 79864762 79864762 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr17:79864762G>A uc002kcf.1 - 7 613 c.550C>T c.(550-552)CGG>TGG p.R184W PCYT2_uc010wva.1_Missense_Mutation_p.R152W|PCYT2_uc010wvb.1_Missense_Mutation_p.R152W|PCYT2_uc002kce.1_Missense_Mutation_p.R106W|PCYT2_uc002kcg.1_Missense_Mutation_p.R213W|PCYT2_uc002kch.1_Missense_Mutation_p.R202W|PCYT2_uc002kci.1_Missense_Mutation_p.R143W|PCYT2_uc010dii.1_Missense_Mutation_p.R184W|PCYT2_uc010wvc.1_Missense_Mutation_p.R106W NM_002861 NP_002852 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 184 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CAGGGGTTCCGCCCACCAGGG 0.622 DSC3 1825 broad.mit.edu 37 18 28605880 28605880 + Missense_Mutation SNP A G G TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr18:28605880A>G uc002kwj.3 - 5 631 c.476T>C c.(475-477)GTT>GCT p.V159A DSC3_uc002kwi.3_Missense_Mutation_p.V159A NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 159 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) ATCAGATTCAACCTAAAAGTA 0.264 DSG4 147409 broad.mit.edu 37 18 28991295 28991295 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr18:28991295G>A uc002kwq.2 + 15 2374 c.2239G>A c.(2239-2241)GCA>ACA p.A747T DSG4_uc002kwr.2_Missense_Mutation_p.A766T NM_177986 NP_817123 Q86SJ6 DSG4_HUMAN desmoglein 4 isoform 2 preproprotein 747 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding central_nervous_system(5)|ovary(3) 8 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CCTCATggccgcaggggccgc 0.473 POLRMT 5442 broad.mit.edu 37 19 618520 618522 + In_Frame_Del DEL GGA - - TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr19:618520_618522delGGA uc002lpf.1 - 17 3444_3446 c.3388_3390delTCC c.(3388-3390)TCCdel p.S1130del NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 1130 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCATCATGTGGGAGGAGTCCAGC 0.660 ZNF681 148213 broad.mit.edu 37 19 23927954 23927954 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr19:23927954C>T uc002nrk.3 - 4 540 c.398G>A c.(397-399)TGT>TAT p.C133Y ZNF681_uc002nrl.3_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.3_Missense_Mutation_p.C64Y NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) AGTTGGCAAACATTGGTTAAG 0.313 PRODH2 58510 broad.mit.edu 37 19 36293096 36293096 + Silent SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr19:36293096G>A uc002obx.1 - 10 1441 c.1423C>T c.(1423-1425)CTG>TTG p.L475L NM_021232 NP_067055 Q9UF12 PROD2_HUMAN kidney and liver proline oxidase 1 475 glutamate biosynthetic process|proline catabolic process proline dehydrogenase activity ovary(2) 2 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CACATACCCAGTGCTAGAGAG 0.577 PSG7 5676 broad.mit.edu 37 19 43439731 43439731 + Silent SNP G A A rs140238439 by1000genomes TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr19:43439731G>A uc002ovl.3 - 2 357 c.255C>T c.(253-255)GAC>GAT p.D85D PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 85 Ig-like V-type. female pregnancy extracellular region 0 Prostate(69;0.00682) TTATTTGACCGTCTACTATAT 0.418 PVR 5817 broad.mit.edu 37 19 45153193 45153193 + Silent SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr19:45153193C>T uc002ozm.2 + 3 839 c.540C>T c.(538-540)CAC>CAT p.H180H PVR_uc010ejs.2_Silent_p.H180H|PVR_uc010xxb.1_Silent_p.H180H|PVR_uc010xxc.1_Silent_p.H180H|PVR_uc002ozn.2_Silent_p.H125H NM_006505 NP_006496 P15151 PVR_HUMAN poliovirus receptor isoform alpha 180 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity 0 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) TCACCTGGCACTCAGACCTGG 0.632 VSTM1 284415 broad.mit.edu 37 19 54567025 54567025 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr19:54567025C>T uc002qcw.3 - 1 183 c.7G>A c.(7-9)GCA>ACA p.A3T VSTM1_uc010erb.2_RNA|VSTM1_uc002qcx.3_Missense_Mutation_p.A3T NM_198481 NP_940883 Q6UX27 VSTM1_HUMAN V-set and transmembrane domain containing 1 3 integral to membrane 0 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.165) AGGAATTCTGCGGTCATAGCG 0.627 GPR17 2840 broad.mit.edu 37 2 128408657 128408657 + Silent SNP C T T rs61749508 TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr2:128408657C>T uc010yzn.1 + 4 1043 c.432C>T c.(430-432)TAC>TAT p.Y144Y LIMS2_uc002tow.2_5'Flank|LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Silent_p.Y144Y|GPR17_uc010yzo.1_Silent_p.Y116Y|GPR17_uc002tpd.2_Silent_p.Y116Y NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 144 Helical; Name=3; (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) TCAACATGTACGCCAGCATCT 0.602 TTN 7273 broad.mit.edu 37 2 179548796 179548796 + Silent SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr2:179548796C>T uc010zfg.1 - 130 29228 c.29004G>A c.(29002-29004)CCG>CCA p.P9668P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 10595 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) CAGCTCTCTTCGGTTCCTCTG 0.368 ACCN4 55515 broad.mit.edu 37 2 220379838 220379838 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr2:220379838C>T uc002vma.2 + 1 787 c.773C>T c.(772-774)GCC>GTC p.A258V ACCN4_uc010fwi.1_Missense_Mutation_p.A258V|ACCN4_uc010fwj.1_Missense_Mutation_p.A258V|ACCN4_uc002vly.1_Missense_Mutation_p.A258V|ACCN4_uc002vlz.2_Missense_Mutation_p.A258V|ACCN4_uc002vmb.2_5'Flank NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 258 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) CTCAGCGATGCCGACATCTTC 0.657 SLCO4A1 28231 broad.mit.edu 37 20 61297841 61297841 + Silent SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr20:61297841C>T uc002ydb.1 + 7 1591 c.1386C>T c.(1384-1386)ACC>ACT p.T462T SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_RNA|SLCO4A1_uc002yde.1_5'Flank NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 462 Helical; Name=9; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TGTTCTGCACCGTTGTCAGCC 0.652 OSM 5008 broad.mit.edu 37 22 30660354 30660354 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr22:30660354G>A uc003ahb.2 - 3 329 c.277C>T c.(277-279)CGG>TGG p.R93W NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 93 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) AGGAAGCCCCGCCTGCCCAGC 0.642 CX3CR1 1524 broad.mit.edu 37 3 39307959 39307959 + Silent SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr3:39307959G>A uc003cjl.2 - 2 134 c.42C>T c.(40-42)TAC>TAT p.Y14Y NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 14 Extracellular (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CCAAATCATCGTACTCAAAGT 0.443 WDR82 80335 broad.mit.edu 37 3 52292683 52292683 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr3:52292683C>T uc003ddl.2 - 8 1063 c.781G>A c.(781-783)GGC>AGC p.G261S WDR82_uc003ddk.2_Missense_Mutation_p.G186S NM_025222 NP_079498 Q6UXN9 WDR82_HUMAN WD repeat domain 82 261 WD 5. histone H3-K4 methylation chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex protein binding 0 BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246) TGGATCTTGCCATCCTCTGAA 0.438 TRH 7200 broad.mit.edu 37 3 129695840 129695840 + Silent SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr3:129695840G>A uc003enc.2 + 3 1071 c.510G>A c.(508-510)GAG>GAA p.E170E NM_007117 NP_009048 P20396 TRH_HUMAN thyrotropin-releasing hormone 170 cell-cell signaling|hormone-mediated signaling pathway extracellular region|soluble fraction neuropeptide hormone activity|thyrotropin-releasing hormone activity ovary(1) 1 Gggaagaagaggaggaggagg 0.547 GFM1 85476 broad.mit.edu 37 3 158378683 158378683 + Silent SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr3:158378683C>T uc003fce.2 + 10 1349 c.1242C>T c.(1240-1242)GCC>GCT p.A414A GFM1_uc003fcd.2_Silent_p.A414A|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Silent_p.A345A NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 414 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) AAGTATATGCCGGAGACATCT 0.353 FGG 2266 broad.mit.edu 37 4 155528019 155528019 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr4:155528019C>T uc003ioj.2 - 8 1108 c.967G>A c.(967-969)GAT>AAT p.D323N FGG_uc003iog.2_Missense_Mutation_p.D323N|FGG_uc003ioh.2_Missense_Mutation_p.D331N|FGG_uc010ipx.2_Missense_Mutation_p.D151N|FGG_uc010ipy.2_Missense_Mutation_p.D34N|FGG_uc003ioi.2_Missense_Mutation_p.D34N|FGG_uc003iok.2_Missense_Mutation_p.D331N NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 323 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CTAGGATCATCGCCAAAATCA 0.468 IRX4 50805 broad.mit.edu 37 5 1880903 1880903 + Silent SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr5:1880903G>A uc003jcz.2 - 3 462 c.343C>T c.(343-345)CTG>TTG p.L115L IRX4_uc011cmf.1_5'UTR NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 115 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) GCTGGTGCCAGGCCCCCATGC 0.622 TRPC7 57113 broad.mit.edu 37 5 135692954 135692954 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr5:135692954G>A uc003lbn.1 - 1 122 c.119C>T c.(118-120)ACG>ATG p.T40M TRPC7_uc010jef.1_Missense_Mutation_p.T32M|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.T32M|TRPC7_uc010jei.1_Missense_Mutation_p.T32M|TRPC7_uc010jej.1_Translation_Start_Site NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 41 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTCCTCGGGCGTCAGACTGGT 0.602 PCDHGA6 56109 broad.mit.edu 37 5 140754770 140754770 + Nonsense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr5:140754770C>T uc003ljy.1 + 1 1120 c.1120C>T c.(1120-1122)CGA>TGA p.R374* 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_uc011dau.1_Nonsense_Mutation_p.R374* NM_018919 NP_061742 Q9Y5G7 PCDG6_HUMAN protocadherin gamma subfamily A, 6 isoform 1 374 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGTTCGATCGAGACTCTGG 0.428 FBXO38 81545 broad.mit.edu 37 5 147807296 147807296 + Silent SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr5:147807296C>T uc003lpf.1 + 15 2559 c.2439C>T c.(2437-2439)TCC>TCT p.S813S FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron NM_205836 NP_995308 Q6PIJ6 FBX38_HUMAN F-box protein 38 isoform b 813 cytoplasm|nucleus ovary(4)|skin(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACGAGATCCGCCTTTTCCT 0.567 FAM54A 113115 broad.mit.edu 37 6 136554632 136554632 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr6:136554632G>A uc010kgp.1 - 7 1265 c.875C>T c.(874-876)CCT>CTT p.P292L FAM54A_uc003qgt.1_Missense_Mutation_p.P292L|FAM54A_uc003qgu.1_Missense_Mutation_p.P249L NM_001099286 NP_001092756 Q6P444 FA54A_HUMAN DUF729 domain containing 1 292 skin(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504) TCTACCGCCAGGTGACCtatt 0.313 SDK1 221935 broad.mit.edu 37 7 3991529 3991529 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr7:3991529C>T uc003smx.2 + 7 1266 c.1127C>T c.(1126-1128)GCG>GTG p.A376V NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 376 Ig-like C2-type 3. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCGGCCAGGGCGACGGCCTTT 0.577 CALCR 799 broad.mit.edu 37 7 93055883 93055883 + Missense_Mutation SNP G A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr7:93055883G>A uc003umv.1 - 15 1573 c.1312C>T c.(1312-1314)CGC>TGC p.R438C CALCR_uc011kia.1_Missense_Mutation_p.R218C|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C NM_001742 NP_001733 P30988 CALCR_HUMAN calcitonin receptor isoform 2 precursor 420 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus integral to plasma membrane calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207) STAD - Stomach adenocarcinoma(171;0.000244) Salmon Calcitonin(DB00017) GCCCATTGGCGCTTCACGGTG 0.537 KIAA1549 57670 broad.mit.edu 37 7 138593736 138593736 + Splice_Site SNP C A A TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr7:138593736C>A uc011kql.1 - 5 3325 c.3276_splice c.e5+1 p.Q1092_splice KIAA1549_uc003vuk.3_Splice_Site_p.Q1042_splice|KIAA1549_uc011kqj.1_Splice_Site_p.Q1092_splice NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 GATATTCTCACCTGCACCGTG 0.468 O BRAF pilocytic astrocytoma PRKAG2 51422 broad.mit.edu 37 7 151261177 151261177 + Missense_Mutation SNP A T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr7:151261177A>T uc003wkk.2 - 14 2182 c.1571T>A c.(1570-1572)ATA>AAA p.I524K PRKAG2_uc003wki.2_Missense_Mutation_p.I283K|PRKAG2_uc011kvl.1_Missense_Mutation_p.I399K|PRKAG2_uc003wkj.2_Missense_Mutation_p.I480K|PRKAG2_uc003wkl.2_Missense_Mutation_p.I72K NM_016203 NP_057287 Q9UGJ0 AAKG2_HUMAN AMP-activated protein kinase gamma2 subunit 524 CBS 4. ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(1)|kidney(1) 2 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) AGCTCTTACTATTCTGTCCAC 0.517 FRMD3 257019 broad.mit.edu 37 9 85913683 85913683 + Silent SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr9:85913683C>T uc004ams.1 - 12 1252 c.1050G>A c.(1048-1050)AGG>AGA p.R350R FRMD3_uc004amr.1_Silent_p.R336R NM_174938 NP_777598 A2A2Y4 FRMD3_HUMAN FERM domain containing 3 350 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1)|central_nervous_system(1) 2 CAGGAGGCTCCCTCTGGATCT 0.493 LRRC8A 56262 broad.mit.edu 37 9 131669841 131669841 + Missense_Mutation SNP C T T TCGA-19-5952-01A-11D-1696-08 TCGA-19-5952-11A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 483cad63-ca73-4b31-b4c7-9d73f2cb4186 1ed4b4f1-5d98-4490-87ee-303f7699f8f6 g.chr9:131669841C>T uc004bwl.3 + 3 652 c.398C>T c.(397-399)ACG>ATG p.T133M LRRC8A_uc010myp.2_Missense_Mutation_p.T133M|LRRC8A_uc010myq.2_Missense_Mutation_p.T133M NM_019594 NP_062540 Q8IWT6 LRC8A_HUMAN leucine rich repeat containing 8 family, member 133 Helical; (Potential). pre-B cell differentiation integral to membrane 0 CTTCTGCACACGCTCATCTTC 0.557