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 MASP2 10747 broad.mit.edu 37 1 11107017 11107017 + Silent SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:11107017G>A uc001aru.2 - 2 186 c.165C>T c.(163-165)TAC>TAT p.Y55Y MASP2_uc001arv.2_Silent_p.Y55Y|MASP2_uc001arw.2_Silent_p.Y55Y|MASP2_uc001arx.1_Silent_p.Y55Y NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 55 CUB 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) GGCGCAGGCGGTAGCCGGGGG 0.657 ZNF362 149076 broad.mit.edu 37 1 33745906 33745906 + Missense_Mutation SNP G C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:33745906G>C uc001bxc.1 + 5 701 c.531G>C c.(529-531)AAG>AAC p.K177N NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN zinc finger protein 362 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) ACTCCATCAAGACAATCCAGG 0.667 KLF17 128209 broad.mit.edu 37 1 44595485 44595485 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:44595485G>A uc001clp.2 + 2 600 c.542G>A c.(541-543)GGC>GAC p.G181D KLF17_uc009vxf.1_Missense_Mutation_p.G144D NM_173484 NP_775755 Q5JT82 KLF17_HUMAN zinc finger protein 393 181 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) CCTTACCCTGGCCTCTCGACA 0.597 LRRC7 57554 broad.mit.edu 37 1 70489054 70489054 + Missense_Mutation SNP A T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:70489054A>T uc001dep.2 + 15 1707 c.1677A>T c.(1675-1677)AGA>AGT p.R559S LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 559 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TAAGTGGCAGACAGGTAGGCC 0.507 NEGR1 257194 broad.mit.edu 37 1 72400892 72400892 + Missense_Mutation SNP A C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:72400892A>C uc001dfw.2 - 2 379 c.279T>G c.(277-279)ATT>ATG p.I93M NEGR1_uc001dfv.2_Translation_Start_Site|NEGR1_uc010oqs.1_Missense_Mutation_p.I93M NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 93 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TCAATGTTGAAATTGAAACTC 0.443 MOV10 4343 broad.mit.edu 37 1 113232671 113232671 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:113232671G>A uc001eck.2 + 5 1057 c.787G>A c.(787-789)GGA>AGA p.G263R MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.2_Missense_Mutation_p.G263R|MOV10_uc001ecm.2_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 263 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) CCGGATCACCGGAAACCCTGT 0.602 INSRR 3645 broad.mit.edu 37 1 156816384 156816384 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:156816384C>T uc010pht.1 - 8 1991 c.1737G>A c.(1735-1737)ACG>ACA p.T579T NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 579 Fibronectin type-III 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CAGTGGTTAGCGTGATGGCCC 0.607 OR10Z1 128368 broad.mit.edu 37 1 158576316 158576316 + Silent SNP T C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:158576316T>C uc010pio.1 + 1 88 c.88T>C c.(88-90)TTG>CTG p.L30L NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 30 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TCTCTTTGCCTTGTTCCTCTC 0.502 ATF6 22926 broad.mit.edu 37 1 161816315 161816315 + Missense_Mutation SNP T C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:161816315T>C uc001gbr.2 + 10 1331 c.1264T>C c.(1264-1266)TCT>CCT p.S422P ATF6_uc001gbq.1_Missense_Mutation_p.S422P NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 422 Lumenal (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) TCTAGGATTTTCTGCTAAAGA 0.403 GORAB 92344 broad.mit.edu 37 1 170511696 170511696 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:170511696C>T uc001gha.2 + 3 586 c.559C>T c.(559-561)CGT>TGT p.R187C GORAB_uc001ggz.3_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN golgin, RAB6-interacting isoform a 187 Potential. Golgi apparatus|nucleus 0 GAAAAATAAACGTAAAAAAGC 0.398 PAPPA2 60676 broad.mit.edu 37 1 176526282 176526282 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:176526282G>A uc001gkz.2 + 2 1988 c.824G>A c.(823-825)CGT>CAT p.R275H PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 275 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CTGCTGCTGCGTCCAGAAGTG 0.577 HMCN1 83872 broad.mit.edu 37 1 186062774 186062774 + Missense_Mutation SNP G A A rs143555094 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:186062774G>A uc001grq.1 + 66 10398 c.10169G>A c.(10168-10170)CGG>CAG p.R3390Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3390 Ig-like C2-type 32. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TCCCATATCCGGTTACTGGCA 0.428 AVPR1B 553 broad.mit.edu 37 1 206224826 206224826 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:206224826C>T uc001hds.2 + 1 544 c.386C>T c.(385-387)ACG>ATG p.T129M NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 129 Helical; Name=3; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity p.T129M(1) ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CTGGCCATGACGCTGGACCGC 0.657 CD55 1604 broad.mit.edu 37 1 207500170 207500170 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:207500170C>T uc001hfq.3 + 5 946 c.652C>T c.(652-654)CCA>TCA p.P218S CD55_uc001hfp.3_Missense_Mutation_p.P218S|CD55_uc001hfr.3_Missense_Mutation_p.P218S|CD55_uc010psf.1_RNA|CD55_uc009xcf.2_Missense_Mutation_p.P154S|CD55_uc009xce.2_Missense_Mutation_p.P218S|CD55_uc009xcg.2_5'UTR NM_000574 NP_000565 P08174 DAF_HUMAN decay accelerating factor for complement isoform 218 Sushi 3. complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction receptor activity ovary(1) 1 Chloramphenicol(DB00446) TGACCCGTTGCCAGAGTGCAG 0.403 SIPA1L2 57568 broad.mit.edu 37 1 232581433 232581433 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:232581433C>T uc001hvg.2 - 9 3353 c.3195G>A c.(3193-3195)ACG>ACA p.T1065T SIPA1L2_uc001hvf.2_Silent_p.T139T NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1065 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCCGGTGCCACGTGGTGTTCC 0.642 OR2L13 284521 broad.mit.edu 37 1 248262881 248262881 + Missense_Mutation SNP G T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:248262881G>T uc001ids.2 + 3 541 c.204G>T c.(202-204)ATG>ATT p.M68I NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 68 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) TCTCCCTTATGGACCTGATGT 0.547 OR2T4 127074 broad.mit.edu 37 1 248525679 248525679 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:248525679G>A uc001ieh.1 + 1 797 c.797G>A c.(796-798)CGG>CAG p.R266Q NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 266 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 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) GCAGAGGGCCGGAAAAAGGCC 0.547 OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG - - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr1:248616705_248616711delTGCTGCG uc001iek.1 + 1 607_613 c.607_613delTGCTGCG c.(607-615)TGCTGCGTGfs p.C203fs NM_001004136 NP_001004136 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, 203_205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 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) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 GDF2 2658 broad.mit.edu 37 10 48413956 48413956 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:48413956C>T uc001jfa.1 - 2 1075 c.912G>A c.(910-912)ACG>ACA p.T304T NM_016204 NP_057288 Q9UK05 GDF2_HUMAN growth differentiation factor 2 precursor 304 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(2)|skin(1) 3 CGTGGCCATCCGTGTCCTCCT 0.607 A1CF 29974 broad.mit.edu 37 10 52566580 52566580 + Missense_Mutation SNP G T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:52566580G>T uc001jjj.2 - 13 1882 c.1694C>A c.(1693-1695)ACC>AAC p.T565N A1CF_uc010qhn.1_Missense_Mutation_p.T565N|A1CF_uc001jji.2_Missense_Mutation_p.T557N|A1CF_uc001jjh.2_Missense_Mutation_p.T565N|A1CF_uc010qho.1_Missense_Mutation_p.T573N|A1CF_uc009xov.2_Missense_Mutation_p.T557N NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 565 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TTGTCCAAGGGTTACCGCTTG 0.493 PTEN 5728 broad.mit.edu 37 10 89692883 89692883 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:89692883C>T uc001kfb.2 + 6 1398 c.367C>T c.(367-369)CAC>TAC p.H123Y NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 123 Phosphatase tensin-type. H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity). 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.H123Y(4)|p.R55fs*1(4)|p.I122fs*2(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.A121_F145del(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) TGCAGCAATTCACTGTAAAGC 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) FAM178A 55719 broad.mit.edu 37 10 102676871 102676871 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:102676871C>T uc001krt.3 + 3 1271 c.729C>T c.(727-729)TAC>TAT p.Y243Y FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krs.2_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 243 0 TAGCTTCTTACTGCAGAGAAC 0.473 PCGF6 84108 broad.mit.edu 37 10 105108477 105108477 + Missense_Mutation SNP T C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr10:105108477T>C uc001kwt.2 - 3 621 c.553A>G c.(553-555)ATA>GTA p.I185V PCGF6_uc001kwu.2_Missense_Mutation_p.I185V|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA NM_001011663 NP_001011663 Q9BYE7 PCGF6_HUMAN polycomb group ring finger 6 isoform a 185 negative regulation of transcription, DNA-dependent PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1) 1 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205) TCTTACCTTATGTTATAAAGA 0.284 OR56B4 196335 broad.mit.edu 37 11 6129052 6129052 + Missense_Mutation SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:6129052T>A uc010qzx.1 + 1 44 c.44T>A c.(43-45)ATT>AAT p.I15N NM_001005181 NP_001005181 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGCCTCCAGATTTCCCAGTTC 0.493 QSER1 79832 broad.mit.edu 37 11 32954286 32954286 + Silent SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:32954286G>A uc001mty.2 + 4 1362 c.1095G>A c.(1093-1095)AAG>AAA p.K365K QSER1_uc001mtz.1_Intron|QSER1_uc001mua.2_5'Flank NM_001076786 NP_001070254 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 365 Ser-rich. ovary(3)|central_nervous_system(2)|skin(1) 6 Breast(20;0.158) GGTCCAGCAAGGTTGAGAAAT 0.383 OR5AR1 219493 broad.mit.edu 37 11 56431526 56431526 + Missense_Mutation SNP G A A rs143043362 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:56431526G>A uc010rjm.1 + 1 365 c.365G>A c.(364-366)CGT>CAT p.R122H NM_001004730 NP_001004730 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCCTATGGTCGTTTTGTGGCC 0.512 PLAC1L 219990 broad.mit.edu 37 11 59807826 59807826 + Translation_Start_Site SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:59807826C>T uc001nol.2 + 1 79 c.-106C>T c.(-108--104)AACGA>AATGA NM_173801 NP_776162 Q86WS3 PLACL_HUMAN placenta-specific 1-like precursor extracellular region ovary(2)|skin(1) 3 AGGAGGAAAACGAACGCAGCT 0.463 MS4A14 84689 broad.mit.edu 37 11 60183888 60183888 + Missense_Mutation SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:60183888T>A uc001npj.2 + 5 2012 c.1447T>A c.(1447-1449)TCA>ACA p.S483T MS4A14_uc001npi.2_Missense_Mutation_p.S371T|MS4A14_uc001npn.2_Missense_Mutation_p.S221T|MS4A14_uc001npk.2_Missense_Mutation_p.S466T|MS4A14_uc001npl.2_Missense_Mutation_p.S221T|MS4A14_uc001npm.2_Missense_Mutation_p.S221T NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 483 Gln-rich. integral to membrane receptor activity breast(1) 1 AAGAAAATCCTCAAGACGGCA 0.398 AHNAK 79026 broad.mit.edu 37 11 62285625 62285625 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:62285625C>T uc001ntl.2 - 5 16564 c.16264G>A c.(16264-16266)GTC>ATC p.V5422I AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 5422 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TTGGCATTGACGTGCAAGTCG 0.532 RBM4 5936 broad.mit.edu 37 11 66411364 66411384 + In_Frame_Del DEL GCTGCTGCTGCAGCAGCAGCC - - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC uc009yrj.2 + 3 1344_1364 c.856_876delGCTGCTGCTGCAGCAGCAGCC c.(856-876)GCTGCTGCTGCAGCAGCAGCCdel p.AAAAAAA286del RBM4_uc009yrk.2_In_Frame_Del_p.AAAAAAA261del|RBM4_uc001oiw.1_In_Frame_Del_p.AAAAAAA286del|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_In_Frame_Del_p.AAAAAAA286del|RBM4_uc001oiz.1_In_Frame_Del_p.AAAAAAA286del NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 286_292 Interaction with TNPO3.|Poly-Ala. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) tgctgccacagctgctgctgcagcagcagccgctgctgctg 0.457 DHH 50846 broad.mit.edu 37 12 49483743 49483743 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:49483743G>A uc001rtf.2 - 3 1397 c.1090C>T c.(1090-1092)CAC>TAC p.H364Y NM_021044 NP_066382 O43323 DHH_HUMAN desert hedgehog preproprotein 364 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding lung(1)|breast(1) 2 CCTAGCGCGTGCAGCAGTCTC 0.667 ACVRL1 94 broad.mit.edu 37 12 52312886 52312887 + Missense_Mutation DNP TG GT GT TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:52312886_52312887TG>GT uc001rzj.2 + 9 1647_1648 c.1364_1365TG>GT c.(1363-1365)CTG>CGT p.L455R ACVRL1_uc001rzk.2_Missense_Mutation_p.L455R|ACVRL1_uc010snm.1_Missense_Mutation_p.L281R NM_000020 NP_000011 P37023 ACVL1_HUMAN activin A receptor type II-like 1 precursor 455 Cytoplasmic (Potential).|Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) CCTAACCGGCTGGCTGCAGACC 0.599 Hereditary_Hemorrhagic_Telangiectasia TPCN1 53373 broad.mit.edu 37 12 113730818 113730818 + Silent SNP G C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:113730818G>C uc001tuw.2 + 26 2490 c.2193G>C c.(2191-2193)CGG>CGC p.R731R TPCN1_uc001tux.2_Silent_p.R803R|TPCN1_uc010syu.1_5'Flank NM_017901 NP_060371 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 isoform 2 731 Cytoplasmic (Potential). endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity skin(2)|ovary(1) 3 GGGAGGCACGGGGGGCCTCCT 0.617 ORAI1 84876 broad.mit.edu 37 12 122079191 122079191 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr12:122079191G>A uc010szz.1 + 3 741 c.548G>A c.(547-549)GGC>GAC p.G183D NM_032790 NP_116179 Q96D31 CRCM1_HUMAN calcium release-activated calcium channel 183 Helical; (Potential). platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) ACCGTCATCGGCACGCTGCTC 0.637 ENOX1 55068 broad.mit.edu 37 13 43935415 43935415 + Missense_Mutation SNP T C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr13:43935415T>C uc001uza.3 - 6 682 c.382A>G c.(382-384)AAT>GAT p.N128D ENOX1_uc001uzb.3_Missense_Mutation_p.N128D|ENOX1_uc001uzc.3_Missense_Mutation_p.N128D|ENOX1_uc010tfm.1_5'Flank NM_001127615 NP_001121087 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 128 Pro-rich. electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity pancreas(1)|skin(1) 2 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) CGTTACTTACTTGGATTTTGA 0.378 PRKD1 5587 broad.mit.edu 37 14 30068325 30068325 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr14:30068325C>T uc001wqh.2 - 15 2255 c.2074G>A c.(2074-2076)GTG>ATG p.V692M NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 692 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CGCAAAGCCACGAGTATCTGT 0.368 MKRN3 7681 broad.mit.edu 37 15 23811197 23811197 + Nonsense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:23811197C>T uc001ywh.3 + 1 744 c.268C>T c.(268-270)CGA>TGA p.R90* MKRN3_uc001ywi.2_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90* NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 90 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) GTTGCCAAGCCGAAGCAGCGG 0.607 FBN1 2200 broad.mit.edu 37 15 48744871 48744871 + Missense_Mutation SNP C A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:48744871C>A uc001zwx.1 - 45 5761 c.5433G>T c.(5431-5433)GAG>GAT p.E1811D FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1811 EGF-like 30; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CGTTCTGACACTCGTCAATAT 0.488 VPS13C 54832 broad.mit.edu 37 15 62292774 62292774 + Missense_Mutation SNP C A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:62292774C>A uc002agz.2 - 16 1416 c.1342G>T c.(1342-1344)GCA>TCA p.A448S VPS13C_uc002aha.2_Missense_Mutation_p.A405S|VPS13C_uc002ahb.1_Missense_Mutation_p.A448S|VPS13C_uc002ahc.1_Missense_Mutation_p.A405S NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 448 protein localization ovary(2) 2 TCAACTTGTGCTTGTTGCCTT 0.308 TLN2 83660 broad.mit.edu 37 15 63058560 63058560 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:63058560G>A uc002alb.3 + 38 5135 c.5135G>A c.(5134-5136)GGA>GAA p.G1712E TLN2_uc002alc.3_Missense_Mutation_p.G105E|TLN2_uc002ald.2_Missense_Mutation_p.G105E NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 1712 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 CAGGAAATCGGACACCTTATC 0.572 SH3GL3 6457 broad.mit.edu 37 15 84245409 84245409 + Silent SNP C T T rs138675150 byFrequency TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:84245409C>T uc002bjw.2 + 6 735 c.540C>T c.(538-540)GAC>GAT p.D180D SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.2_Silent_p.D111D|SH3GL3_uc002bju.2_Silent_p.D188D|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 180 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 AGATACCAGACGAAGAAGTCA 0.383 CHD2 1106 broad.mit.edu 37 15 93563361 93563361 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr15:93563361G>A uc002bsp.2 + 38 5601 c.5026G>A c.(5026-5028)GGG>AGG p.G1676R CHD2_uc002bso.1_Missense_Mutation_p.G1676R NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1676 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCACCATTATGGGGACCGGCG 0.527 IL4R 3566 broad.mit.edu 37 16 27363945 27363945 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr16:27363945C>T uc002don.2 + 7 840 c.598C>T c.(598-600)CGG>TGG p.R200W IL4R_uc002dom.2_Missense_Mutation_p.R200W|IL4R_uc002dop.3_Missense_Mutation_p.R185W|IL4R_uc010bxy.2_Missense_Mutation_p.R200W|IL4R_uc002doo.2_Missense_Mutation_p.R40W NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 200 Extracellular (Potential).|Fibronectin type-III. 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 CTACAGGGCACGGGTGAGGGC 0.552 PLCG2 5336 broad.mit.edu 37 16 81954828 81954828 + Missense_Mutation SNP A C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr16:81954828A>C uc002fgt.2 + 21 2413 c.2261A>C c.(2260-2262)GAC>GCC p.D754A PLCG2_uc010chg.1_Missense_Mutation_p.D754A NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 754 intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 TCCCTCTACGACGTCAGCAGA 0.428 Unknown 0 broad.mit.edu 37 17 3144469 3144469 + Missense_Mutation SNP C A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:3144469C>A uc002fvf.2 + 1 553 c.500C>A c.(499-501)ACC>AAC p.T167N SubName: Full=Olfactory receptor OR17-1; ACCAGGGTGACCTTCTGTGGG 0.542 TP53 7157 broad.mit.edu 37 17 7577094 7577094 + Missense_Mutation SNP G A A rs28934574 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:7577094G>A uc002gim.2 - 8 1038 c.844C>T c.(844-846)CGG>TGG p.R282W TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 282 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (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.R282W(367)|p.R282G(27)|p.R282Q(20)|p.R282P(14)|p.R282R(8)|p.0?(7)|p.R282L(3)|p.D281fs*63(2)|p.?(2)|p.R282fs*24(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.R282_E287delRRTEEE(1)|p.G279fs*59(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.D281_R282insXX(1)|p.L265_K305del41(1)|p.R282H(1)|p.R283_T284>T(1)|p.V272_K292del21(1)|p.R282fs*63(1)|p.C275fs*20(1)|p.D281_R282delDR(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) TCTGTGCGCCGGTCTCTCCCA 0.557 111 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) TP53 7157 broad.mit.edu 37 17 7578211 7578214 + Frame_Shift_Del DEL CGAA - - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:7578211_7578214delCGAA uc002gim.2 - 6 829_832 c.635_638delTTCG c.(634-639)TTTCGAfs p.F212fs TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.2_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.1_Frame_Shift_Del_p.F173fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 212_213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(186)|p.R213L(25)|p.R213Q(22)|p.F212fs*3(7)|p.0?(7)|p.R213P(5)|p.F212L(3)|p.R213fs*34(3)|p.F212I(2)|p.R81*(2)|p.F212S(2)|p.R120*(2)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.T211_F212insX(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.F212fs*4(1)|p.R213>L(1)|p.F212Y(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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) CACACTATGTCGAAAAGTGTTTCT 0.534 111 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) TRIM16 10626 broad.mit.edu 37 17 15517208 15517208 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:15517208C>T uc002gor.1 - 9 2077 c.1740G>A c.(1738-1740)GGG>GGA p.G580G CDRT1_uc002gov.3_Silent_p.G270G O95361 TRI16_HUMAN SubName: Full=Putative uncharacterized protein; Flags: Fragment; Error:Variant_position_missing_in_O95361_after_alignment histone H3 acetylation|histone H4 acetylation|positive regulation of interleukin-1 beta secretion|positive regulation of keratinocyte differentiation|positive regulation of retinoic acid receptor signaling pathway|positive regulation of transcription, DNA-dependent|response to growth hormone stimulus|response to organophosphorus|response to retinoic acid cytoplasm|plasma membrane|PML body DNA binding|interleukin-1 binding|NACHT domain binding|zinc ion binding ovary(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559) ATTTGCTGAACCCAGAAGACA 0.488 KPNB1 3837 broad.mit.edu 37 17 45734349 45734349 + Frame_Shift_Del DEL A - - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr17:45734349delA uc002ilt.1 + 4 742 c.406delA c.(406-408)AATfs p.N136fs KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 136 HEAT 1. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 GCTGGTGGCCAATGTCACAAA 0.483 RBBP8 5932 broad.mit.edu 37 18 20573449 20573449 + Silent SNP C G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr18:20573449C>G uc002ktw.2 + 11 1990 c.1659C>G c.(1657-1659)CCC>CCG p.P553P RBBP8_uc002kty.2_Silent_p.P553P|RBBP8_uc002ktz.2_Silent_p.P553P|RBBP8_uc002kua.2_Silent_p.P553P|RBBP8_uc010xap.1_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P NM_002894 NP_002885 Q99708 COM1_HUMAN retinoblastoma binding protein 8 isoform a 553 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity ovary(1)|lung(1)|skin(1) 3 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CAGGGGAGCCCTGTTCACAGG 0.438 Direct_reversal_of_damage|Homologous_recombination PSMA8 143471 broad.mit.edu 37 18 23738210 23738210 + Splice_Site SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr18:23738210T>A uc002kvq.2 + 4 609 c.495_splice c.e4+2 p.K165_splice PSMA8_uc002kvo.2_Splice_Site_p.K121_splice|PSMA8_uc002kvp.2_Splice_Site_p.K159_splice|PSMA8_uc002kvr.2_Splice_Site_p.K133_splice NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 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|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GCTTGGAAGGTGAGTCATGAA 0.299 SERPINB3 6317 broad.mit.edu 37 18 61323223 61323223 + Missense_Mutation SNP C T T rs143634391 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr18:61323223C>T uc002lji.2 - 8 985 c.841G>A c.(841-843)GAT>AAT p.D281N SERPINB4_uc002ljg.2_Intron|SERPINB3_uc010dqa.2_Missense_Mutation_p.D229N NM_006919 NP_008850 P29508 SPB3_HUMAN serine (or cysteine) proteinase inhibitor, clade 281 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(1)|central_nervous_system(1)|skin(1) 3 AAGTGTAAATCGACACGTGTC 0.418 FARSA 2193 broad.mit.edu 37 19 13041262 13041262 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:13041262C>T uc002mvs.2 - 3 413 c.365G>A c.(364-366)GGG>GAG p.G122E FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.G122E|FARSA_uc010dyy.1_Intron NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 122 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) CACCCGGGGCCCGTCAGCCGC 0.637 ZNF681 148213 broad.mit.edu 37 19 23927229 23927229 + Missense_Mutation SNP A C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:23927229A>C uc002nrk.3 - 4 1265 c.1123T>G c.(1123-1125)TTT>GTT p.F375V ZNF681_uc002nrl.3_Missense_Mutation_p.F306V|ZNF681_uc002nrj.3_Missense_Mutation_p.F306V NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 375 C2H2-type 8. 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) GACTGCCTAAAGGCTTTGCCA 0.413 ZNF569 148266 broad.mit.edu 37 19 37905163 37905163 + Missense_Mutation SNP T C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:37905163T>C uc002ogi.2 - 6 955 c.397A>G c.(397-399)AGA>GGA p.R133G ZNF569_uc002ogh.2_5'UTR|ZNF569_uc002ogj.2_Missense_Mutation_p.R157G NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 133 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGATTGTGTCTGGAAGGGAAA 0.323 PRX 57716 broad.mit.edu 37 19 40903183 40903183 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:40903183C>T uc002onr.2 - 7 1345 c.1076G>A c.(1075-1077)CGC>CAC p.R359H PRX_uc002onq.2_Missense_Mutation_p.R220H|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 359 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AAAACTAAGGCGGGGCATCTT 0.637 SIGLEC8 27181 broad.mit.edu 37 19 51960834 51960834 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:51960834C>T uc002pwt.2 - 2 681 c.614G>A c.(613-615)CGC>CAC p.R205H SIGLEC8_uc010yda.1_Intron|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Intron NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 205 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) CACTGAGGAGCGGGCAGTAGT 0.652 NLRP7 199713 broad.mit.edu 37 19 55451643 55451643 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:55451643C>T uc002qih.3 - 4 620 c.544G>A c.(544-546)GTG>ATG p.V182M NLRP7_uc002qig.3_Missense_Mutation_p.V182M|NLRP7_uc002qii.3_Missense_Mutation_p.V182M|NLRP7_uc010esk.2_Missense_Mutation_p.V182M|NLRP7_uc010esl.2_Missense_Mutation_p.V210M NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 182 NACHT.|ATP (Potential). ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GTTTTCCCCACGCCTGCGGGG 0.562 USP29 57663 broad.mit.edu 37 19 57641754 57641754 + Missense_Mutation SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr19:57641754T>A uc002qny.2 + 4 2067 c.1711T>A c.(1711-1713)TCT>ACT p.S571T NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 571 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAGATGATTTCTGAGATCAA 0.468 NBAS 51594 broad.mit.edu 37 2 15417158 15417158 + Missense_Mutation SNP G T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:15417158G>T uc002rcc.1 - 43 5232 c.5206C>A c.(5206-5208)CCA>ACA p.P1736T NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1736 ovary(2)|liver(1)|skin(1) 4 AAGGCTTCTGGATCAGTCTTC 0.398 ASXL2 55252 broad.mit.edu 37 2 25965918 25965918 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:25965918C>T uc002rgs.2 - 12 3509 c.3288G>A c.(3286-3288)CAG>CAA p.Q1096Q ASXL2_uc002rgt.1_Silent_p.Q579Q NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1096 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGTCTTCCAGCTGGAAACCTG 0.493 IL18R1 8809 broad.mit.edu 37 2 102984390 102984390 + Missense_Mutation SNP G T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:102984390G>T uc002tbw.3 + 3 314 c.164G>T c.(163-165)AGC>ATC p.S55I IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywc.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.S55I NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 55 Ig-like C2-type 1.|Extracellular (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 ACCACCAAAAGCTGGTACAAA 0.448 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A G G rs115341812 by1000genomes TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 SCN7A 6332 broad.mit.edu 37 2 167263066 167263066 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:167263066C>T uc002udu.1 - 25 4200 c.4073G>A c.(4072-4074)CGT>CAT p.R1358H NM_002976 NP_002967 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha 1358 Helical; Voltage-sensor; Name=S4 of repeat IV; (By similarity). muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity large_intestine(1) 1 TTTTCCAAGACGCAGCATGTG 0.468 ITGA6 3655 broad.mit.edu 37 2 173338970 173338970 + Silent SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:173338970G>A uc002uhp.1 + 6 1166 c.963G>A c.(961-963)GCG>GCA p.A321A ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank NM_001079818 NP_001073286 P23229 ITA6_HUMAN integrin alpha chain, alpha 6 isoform a 360 FG-GAP 5.|Extracellular (Potential). blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0979) ATGATGTGGCGGTGGTGGACC 0.483 TTN 7273 broad.mit.edu 37 2 179528769 179528769 + Missense_Mutation SNP T G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:179528769T>G uc010zfk.1 - 14 1323 c.775A>C c.(775-777)AAA>CAA p.K259Q TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 11471 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R256_K260>K(1) 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) TCAGGCTTTTTAGGAGGCACC 0.388 ALPP 250 broad.mit.edu 37 2 233246043 233246043 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:233246043C>T uc002vsq.2 + 10 1440 c.1275C>T c.(1273-1275)GAC>GAT p.D425D ALPP_uc002vsr.2_RNA NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 425 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) TGCTCAAGGACGGCGCCCGGC 0.697 COL6A3 1293 broad.mit.edu 37 2 238275874 238275874 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:238275874C>T uc002vwl.2 - 11 5241 c.4956G>A c.(4954-4956)AGG>AGA p.R1652R COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1652 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGAAACTGTCCCTCCTGAAGT 0.433 OR6B2 389090 broad.mit.edu 37 2 240969715 240969715 + Silent SNP G T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr2:240969715G>T uc002vyr.2 - 2 178 c.132C>A c.(130-132)GCC>GCA p.A44A OR6B2_uc010zoc.1_Silent_p.A44A NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) TGAGGATGATGGCCAGGTTCT 0.577 SIRPB1 10326 broad.mit.edu 37 20 1600544 1600544 + Missense_Mutation SNP A G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:1600544A>G uc010gai.2 - 1 146 c.47T>C c.(46-48)CTG>CCG p.L16P SIRPB1_uc002wfk.3_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.3_Missense_Mutation_p.L16P NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 16 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 TAGCGTCATCAGCAGGAAAGG 0.572 NINL 22981 broad.mit.edu 37 20 25457045 25457045 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:25457045G>A uc002wux.1 - 17 2956 c.2882C>T c.(2881-2883)CCC>CTC p.P961L NINL_uc010gdn.1_Intron NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 961 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CGGCCTCAGGGGTGGCTCCCA 0.692 PPP1R16B 26051 broad.mit.edu 37 20 37547256 37547256 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:37547256G>A uc002xje.2 + 11 1840 c.1651G>A c.(1651-1653)GCC>ACC p.A551T PPP1R16B_uc010ggc.2_Missense_Mutation_p.A509T NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 551 ANK 5. regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) AAAGTTCAAGGCCCCCATAGA 0.577 BMP7 655 broad.mit.edu 37 20 55777537 55777537 + Silent SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr20:55777537G>A uc010gip.1 - 3 1283 c.754C>T c.(754-756)CTG>TTG p.L252L BMP7_uc010giq.1_Silent_p.L252L|BMP7_uc002xyc.2_Silent_p.L252L NM_001719 NP_001710 P18075 BMP7_HUMAN bone morphogenetic protein 7 precursor 252 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity skin(1) 1 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) TCACCATCCAGCGTCTCCACC 0.607 CACNG2 10369 broad.mit.edu 37 22 36983511 36983511 + Splice_Site SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr22:36983511C>T uc003aps.1 - 2 577 c.295_splice c.e2+1 p.R99_splice NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 TGTGCACTCACGGAGGAAATA 0.507 NCRNA00207 388910 broad.mit.edu 37 22 44967345 44967345 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr22:44967345C>T uc003bev.1 + 3 282 c.215C>T c.(214-216)ACG>ATG p.T72M NCRNA00207_uc011aqg.1_RNA|NCRNA00207_uc011aqh.1_RNA NM_001012986 NP_001013004 SubName: Full=Novel gene; 0 TCTGGAGGGACGTCCTGTCAG 0.423 CHL1 10752 broad.mit.edu 37 3 424158 424158 + Missense_Mutation SNP G T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:424158G>T uc003bou.2 + 17 2203 c.1932G>T c.(1930-1932)GAG>GAT p.E644D CHL1_uc003bot.2_Missense_Mutation_p.E660D|CHL1_uc003bow.1_Missense_Mutation_p.E644D|CHL1_uc011asi.1_Missense_Mutation_p.E660D|uc003box.1_Intron NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 644 Fibronectin type-III 1.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TACTACCAGAGTATATTGTTG 0.338 POLQ 10721 broad.mit.edu 37 3 121206922 121206922 + Missense_Mutation SNP T G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:121206922T>G uc003eee.3 - 16 4985 c.4856A>C c.(4855-4857)AAA>ACA p.K1619T POLQ_uc003eed.2_Missense_Mutation_p.K791T NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1619 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CCCAGTTAATTTTGATTTTTC 0.408 DNA_polymerases_(catalytic_subunits) Unknown 0 broad.mit.edu 37 3 129137225 129137225 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:129137225G>A uc003emg.2 - 3 716 c.553C>T c.(553-555)CCT>TCT p.P185S NM_207307 NP_997190 hypothetical protein LOC90288 GACAGGGCAGGGGGCTCGGGC 0.602 PRR23C 389152 broad.mit.edu 37 3 138762733 138762733 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:138762733G>A uc011bmt.1 - 1 1002 c.730C>T c.(730-732)CGC>TGC p.R244C NM_001134657 NP_001128129 Q6ZRP0 PR23C_HUMAN proline rich 23C 244 Pro-rich. skin(1) 1 AGCTCCGGGCGCGCGTGGGGA 0.642 NMNAT3 349565 broad.mit.edu 37 3 139297857 139297857 + Silent SNP G A A rs79043406 byFrequency TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:139297857G>A uc003etj.2 - 2 190 c.150C>T c.(148-150)AAC>AAT p.N50N NMNAT3_uc003etk.2_Silent_p.N13N|NMNAT3_uc003etl.2_RNA|NMNAT3_uc010hul.2_Intron NM_178177 NP_835471 Q96T66 NMNA3_HUMAN nicotinamide mononucleotide adenylyltransferase 50 water-soluble vitamin metabolic process cytosol|mitochondrion ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity 0 CATAGGTGTCGTTGACAGGAG 0.572 MCF2L2 23101 broad.mit.edu 37 3 182897228 182897228 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr3:182897228C>T uc003fli.1 - 30 3375 c.3285G>A c.(3283-3285)GGG>GGA p.G1095G NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 1095 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CAGCCGTCGCCCCCGCAGGAG 0.741 DRD5 1816 broad.mit.edu 37 4 9784506 9784506 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:9784506C>T uc003gmb.3 + 1 1249 c.853C>T c.(853-855)CGC>TGC p.R285C NM_000798 NP_000789 P21918 DRD5_HUMAN dopamine receptor D5 285 Cytoplasmic (Potential). activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane skin(1) 1 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) CACCAGCCTGCGCGCTTCCAT 0.627 PCDH7 5099 broad.mit.edu 37 4 30724196 30724196 + Silent SNP G T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:30724196G>T uc003gsk.1 + 1 2160 c.1152G>T c.(1150-1152)ACG>ACT p.T384T PCDH7_uc011bxw.1_Silent_p.T337T|PCDH7_uc011bxx.1_Silent_p.T384T NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 384 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 TGCGCTTCACGGTCATGGCCC 0.652 OCIAD1 54940 broad.mit.edu 37 4 48852092 48852092 + Missense_Mutation SNP C T T rs150423557 TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:48852092C>T uc003gyo.2 + 6 627 c.370C>T c.(370-372)CCA>TCA p.P124S OCIAD1_uc011bzk.1_RNA|OCIAD1_uc003gyr.2_Missense_Mutation_p.P124S|OCIAD1_uc003gyp.2_Missense_Mutation_p.P124S|OCIAD1_uc003gys.2_Missense_Mutation_p.P124S|OCIAD1_uc003gyq.2_Missense_Mutation_p.P124S|OCIAD1_uc010igk.2_Missense_Mutation_p.P129S NM_017830 NP_060300 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 isoform 1 124 endosome protein binding 0 ACGATCTTCACCACCTGGGTA 0.373 MOBKL1A 92597 broad.mit.edu 37 4 71847741 71847741 + Silent SNP A G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:71847741A>G uc003hfw.2 + 6 808 c.618A>G c.(616-618)GAA>GAG p.E206E MOBKL1A_uc011cba.1_Silent_p.E211E NM_173468 NP_775739 Q7L9L4 MOL1A_HUMAN MOB1, Mps One Binder kinase activator-like 1A 206 hippo signaling cascade|protein autophosphorylation cytoplasm|nucleus kinase activator activity|kinase binding|metal ion binding 0 all_hematologic(202;0.21) Lung(101;0.235) CACTCCAAGAACTGATTGAAA 0.353 SLC39A8 64116 broad.mit.edu 37 4 103184237 103184237 + Silent SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:103184237G>A uc003hwb.1 - 8 1876 c.1347C>T c.(1345-1347)CTC>CTT p.L449L SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L NM_022154 NP_071437 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), 449 Helical; (Potential). integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) ACAAGGTAATGAGTAGAATGG 0.348 TET2 54790 broad.mit.edu 37 4 106158045 106158045 + Missense_Mutation SNP G C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:106158045G>C uc003hxk.2 + 3 3332 c.2946G>C c.(2944-2946)AAG>AAC p.K982N TET2_uc011cez.1_Missense_Mutation_p.K1003N|TET2_uc003hxj.2_RNA|TET2_uc010ilp.1_Missense_Mutation_p.K982N|TET2_uc003hxi.1_Missense_Mutation_p.K982N NM_001127208 NP_001120680 Q6N021 TET2_HUMAN tet oncogene family member 2 isoform a 982 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen haematopoietic_and_lymphoid_tissue(732)|pancreas(1) 733 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GGCCAATTAAGGTGGAACCTG 0.473 Mis N|F MDS EGF 1950 broad.mit.edu 37 4 110880565 110880565 + Silent SNP C A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:110880565C>A uc003hzy.3 + 6 1490 c.1038C>A c.(1036-1038)GCC>GCA p.A346A EGF_uc011cfu.1_Intron|EGF_uc011cfv.1_Silent_p.A346A NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 346 EGF-like 1.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGGGATACGCCCTAAGTCGAG 0.502 TBC1D9 23158 broad.mit.edu 37 4 141578365 141578365 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr4:141578365C>T uc010ioj.2 - 13 2495 c.2223G>A c.(2221-2223)GTG>GTA p.V741V NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 741 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) CTTTATTGGTCACACTGTCTA 0.438 PCDHB5 26167 broad.mit.edu 37 5 140517019 140517019 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr5:140517019C>T uc003liq.2 + 1 2220 c.2003C>T c.(2002-2004)CCC>CTC p.P668L NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 668 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCTCCCAGCCCTACCTGCCG 0.701 C5orf25 375484 broad.mit.edu 37 5 175717198 175717198 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr5:175717198G>A uc003mds.3 + 4 1021 c.614G>A c.(613-615)CGA>CAA p.R205Q C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R224Q|uc003mdu.1_Missense_Mutation_p.R116Q Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 205 Pro-rich. 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) TGCCCCCTGCGACCTTTGCCA 0.512 HK3 3101 broad.mit.edu 37 5 176311062 176311062 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr5:176311062C>T uc003mfa.2 - 14 2023 c.1931G>A c.(1930-1932)CGG>CAG p.R644Q HK3_uc003mez.2_Missense_Mutation_p.R200Q NM_002115 NP_002106 P52790 HXK3_HUMAN hexokinase 3 644 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity p.R644W(1) ovary(3)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1) 7 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GATGGCTTCCCGCAACAGACT 0.587 DSP 1832 broad.mit.edu 37 6 7585169 7585169 + Silent SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:7585169T>A uc003mxp.1 + 24 7953 c.7674T>A c.(7672-7674)GCT>GCA p.A2558A DSP_uc003mxq.1_Silent_p.A1959A NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2558 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CTCAATTTGCTGACATGATCT 0.478 TULP1 7287 broad.mit.edu 37 6 35480607 35480607 + Missense_Mutation SNP T C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:35480607T>C uc003okv.3 - 1 41 c.29A>G c.(28-30)GAG>GGG p.E10G TULP1_uc003okw.3_Missense_Mutation_p.E10G NM_003322 NP_003313 O00294 TULP1_HUMAN tubby like protein 1 10 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding ovary(2)|central_nervous_system(1) 3 GGCCCACACCTCTCGGAGGGT 0.522 TCTE1 202500 broad.mit.edu 37 6 44255398 44255398 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:44255398C>T uc003oxi.2 - 2 321 c.165G>A c.(163-165)AGG>AGA p.R55R SPATS1_uc003oxg.2_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN t-complex-associated testis expressed 1 55 ovary(2)|skin(2) 4 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GGATATTGGCCCTGGGATGTG 0.547 C6orf138 442213 broad.mit.edu 37 6 47846160 47846160 + Missense_Mutation SNP A G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:47846160A>G uc011dwm.1 - 3 2454 c.2369T>C c.(2368-2370)CTA>CCA p.L790P C6orf138_uc011dwn.1_Missense_Mutation_p.L554P NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 807 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 GAAAAACGTTAGGAACACAGG 0.443 C6orf142 90523 broad.mit.edu 37 6 53986287 53986287 + Missense_Mutation SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:53986287T>A uc003pcg.3 + 2 219 c.106T>A c.(106-108)TTT>ATT p.F36I C6orf142_uc003pcf.2_Missense_Mutation_p.F36I|C6orf142_uc003pch.3_Intron|C6orf142_uc011dwz.1_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.F47I NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 36 Interaction with LMNA. nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) GATCTTCACATTTGTCCCCAC 0.413 LMBRD1 55788 broad.mit.edu 37 6 70411373 70411373 + Missense_Mutation SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:70411373T>A uc003pfa.2 - 11 1160 c.1045A>T c.(1045-1047)AGT>TGT p.S349C LMBRD1_uc003pey.2_Missense_Mutation_p.S145C|LMBRD1_uc003pez.2_Missense_Mutation_p.S276C|LMBRD1_uc010kal.2_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.2_RNA NM_018368 NP_060838 Q9NUN5 LMBD1_HUMAN liver regeneration p-53 related protein 349 Extracellular (Potential). interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding ovary(1) 1 AGTGGATTACTCAGGTTAGCT 0.294 SIM1 6492 broad.mit.edu 37 6 100838922 100838922 + Missense_Mutation SNP G C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:100838922G>C uc003pqj.3 - 11 1823 c.1616C>G c.(1615-1617)CCT>CGT p.P539R SIM1_uc010kcu.2_Missense_Mutation_p.P539R NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 539 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGCCGACCCAGGGTCTGGAGA 0.433 AIM1 202 broad.mit.edu 37 6 106968654 106968654 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:106968654C>T uc003prh.2 + 2 2834 c.2347C>T c.(2347-2349)CGT>TGT p.R783C NM_001624 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 783 sugar binding breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1) 9 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) GAGACCCAAACGTGCATCTGC 0.468 AKD1 221264 broad.mit.edu 37 6 109993127 109993127 + Frame_Shift_Del DEL T - - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:109993127delT uc003ptn.2 - 5 403 c.326delA c.(325-327)CACfs p.H109fs AKD1_uc003ptr.3_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.1_RNA NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 109 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 CATACCAAAGTGACAGACTTC 0.383 RFX6 222546 broad.mit.edu 37 6 117203548 117203548 + Frame_Shift_Del DEL C - - TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr6:117203548delC uc003pxm.2 + 4 586 c.523delC c.(523-525)CCCfs p.P175fs NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 175 RFX-type winged-helix. glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 CCAGAAGTTTCCCCTCCTAAC 0.413 HOXA9 3205 broad.mit.edu 37 7 27204781 27204781 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:27204781G>A uc003syt.2 - 1 369 c.296C>T c.(295-297)GCG>GTG p.A99V NM_152739 NP_689952 P31269 HXA9_HUMAN homeobox A9 99 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 CGCCGCCGCCGCCACGGGCGC 0.721 T NUP98|MSI2 AML* OGDH 4967 broad.mit.edu 37 7 44714133 44714133 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:44714133C>T uc003tln.2 + 7 1021 c.912C>T c.(910-912)TAC>TAT p.Y304Y OGDH_uc003tlm.2_Silent_p.Y304Y|OGDH_uc011kbx.1_Silent_p.Y300Y|OGDH_uc011kby.1_Silent_p.Y154Y|OGDH_uc003tlp.2_Silent_p.Y315Y|OGDH_uc011kbz.1_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 304 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GCGTGGACTACGTGATCATGG 0.562 EGFR 1956 broad.mit.edu 37 7 55233037 55233037 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:55233037C>T uc003tqk.2 + 15 2033 c.1787C>T c.(1786-1788)CCG>CTG p.P596L EGFR_uc003tqi.2_Missense_Mutation_p.P596L|EGFR_uc003tqj.2_Missense_Mutation_p.P596L|EGFR_uc010kzg.1_Missense_Mutation_p.P551L|EGFR_uc011kco.1_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 596 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.P596L(2) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AAGACCTGCCCGGCAGGAGTC 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) NPTX2 4885 broad.mit.edu 37 7 98254345 98254345 + Missense_Mutation SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:98254345T>A uc003upl.2 + 3 932 c.755T>A c.(754-756)ATC>AAC p.I252N NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 252 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GCCTTCACCATCTGCCTGTGG 0.592 LAMB4 22798 broad.mit.edu 37 7 107706294 107706294 + Missense_Mutation SNP G A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:107706294G>A uc010ljo.1 - 21 2833 c.2749C>T c.(2749-2751)CCC>TCC p.P917S LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 917 Laminin EGF-like 9. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TTGCTTGAGGGATCATCTGGA 0.428 MET 4233 broad.mit.edu 37 7 116398608 116398608 + Missense_Mutation SNP C A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr7:116398608C>A uc003vij.2 + 9 2385 c.2198C>A c.(2197-2199)ACA>AAA p.T733K MET_uc010lkh.2_Missense_Mutation_p.T733K|MET_uc011kng.1_Missense_Mutation_p.T733K|MET_uc011knh.1_Missense_Mutation_p.T733K|MET_uc011kni.1_Missense_Mutation_p.T733K|MET_uc011knj.1_Missense_Mutation_p.T303K NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 733 Extracellular (Potential).|IPT/TIG 2. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) AACCGAGAGACAAGCATCTTC 0.368 Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) MSR1 4481 broad.mit.edu 37 8 16021738 16021738 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr8:16021738C>T uc003wwz.2 - 5 851 c.653G>A c.(652-654)CGT>CAT p.R218H MSR1_uc010lsu.2_Missense_Mutation_p.R236H|MSR1_uc003wxa.2_Missense_Mutation_p.R218H|MSR1_uc003wxb.2_Missense_Mutation_p.R218H|MSR1_uc011kxz.1_Translation_Start_Site NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 218 Potential.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ATTGTAAACACGCTCCTCTAA 0.338 ZNF395 55893 broad.mit.edu 37 8 28210755 28210755 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr8:28210755C>T uc003xgq.2 - 5 842 c.754G>A c.(754-756)GAT>AAT p.D252N ZNF395_uc003xgt.2_Missense_Mutation_p.D252N|ZNF395_uc003xgr.2_Missense_Mutation_p.D252N|ZNF395_uc003xgs.2_Missense_Mutation_p.D252N NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 252 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) AAGCCATGATCAGTTTGGGGA 0.592 FER1L6 654463 broad.mit.edu 37 8 125110059 125110059 + Silent SNP A G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr8:125110059A>G uc003yqw.2 + 37 5024 c.4818A>G c.(4816-4818)GAA>GAG p.E1606E uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1606 C2 6.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GGAACACTGAAGATGTCATTT 0.423 NFIB 4781 broad.mit.edu 37 9 14155894 14155894 + Splice_Site SNP T A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:14155894T>A uc003zle.2 - 4 1052 c.617_splice c.e4-1 p.G206_splice NFIB_uc003zld.2_Splice_Site|NFIB_uc003zlf.2_Splice_Site_p.G206_splice|NFIB_uc011lmo.1_Splice_Site_p.G206_splice NM_005596 NP_005587 O00712 NFIB_HUMAN nuclear factor I/B anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation cerebellar mossy fiber|nucleolus|nucleus RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity 0 GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164) CAAGGTAACCTGAAAATAAAT 0.274 T MYB|HGMA2 adenoid cystic carcinoma|lipoma ADAMTSL1 92949 broad.mit.edu 37 9 18777209 18777209 + Silent SNP C G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:18777209C>G uc003zne.3 + 19 3109 c.2982C>G c.(2980-2982)ACC>ACG p.T994T NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 994 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CCCTGCAGACCCACAAACACC 0.687 FAM108B1 51104 broad.mit.edu 37 9 74485080 74485080 + Missense_Mutation SNP A G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:74485080A>G uc004aim.1 - 3 1168 c.566T>C c.(565-567)ATT>ACT p.I189T FAM108B1_uc004ail.2_Missense_Mutation_p.I189T NM_001025780 NP_001020951 Q5VST6 F108B_HUMAN family with sequence similarity 108, member B1 189 extracellular region hydrolase activity 0 AGAATGAAGAATAACAGCAGC 0.423 TMC1 117531 broad.mit.edu 37 9 75406910 75406910 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:75406910C>T uc004aiz.1 + 16 1873 c.1333C>T c.(1333-1335)CGC>TGC p.R445C TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 445 Helical; (Potential). sensory perception of sound integral to membrane ovary(1) 1 GCTACTGGGACGCATTTTTGC 0.393 GRIN3A 116443 broad.mit.edu 37 9 104432454 104432454 + Missense_Mutation SNP T G G TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:104432454T>G uc004bbp.1 - 3 2841 c.2240A>C c.(2239-2241)AAC>ACC p.N747T GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 747 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GGCCCAAAGGTTCATTAGAAA 0.433 MUSK 4593 broad.mit.edu 37 9 113445003 113445003 + Missense_Mutation SNP A T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chr9:113445003A>T uc004bey.2 + 2 227 c.129A>T c.(127-129)GAA>GAT p.E43D MUSK_uc004bex.2_Missense_Mutation_p.E43D NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 43 Ig-like 1.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 TAGTTGAAGAAGTGGCTACTT 0.378 COL4A5 1287 broad.mit.edu 37 X 107827754 107827754 + Missense_Mutation SNP T C C TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:107827754T>C uc004enz.1 + 18 1233 c.1031T>C c.(1030-1032)CTT>CCT p.L344P COL4A5_uc011mso.1_Missense_Mutation_p.L344P|COL4A5_uc004eob.1_5'UTR NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 344 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 CCTCCTGGACTTGTAAGTTTT 0.343 Alport_syndrome_with_Diffuse_Leiomyomatosis AFF2 2334 broad.mit.edu 37 X 147743983 147743983 + Silent SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:147743983C>T uc004fcp.2 + 3 1214 c.735C>T c.(733-735)GCC>GCT p.A245A AFF2_uc004fco.2_Silent_p.A241A|AFF2_uc004fcq.2_Silent_p.A241A|AFF2_uc004fcr.2_Silent_p.A241A|AFF2_uc011mxb.1_Silent_p.A245A|AFF2_uc004fcs.2_Silent_p.A241A NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 245 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CTGAATTCGCCGTGCAAGCGC 0.458 MAGEA12 4111 broad.mit.edu 37 X 151900520 151900520 + Missense_Mutation SNP C A A TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:151900520C>A uc010ntp.2 - 3 635 c.281G>T c.(280-282)GGG>GTG p.G94V MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.G94V|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 94 skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGTGCTTGGCCCTTCCTGTTC 0.547 ARHGAP4 393 broad.mit.edu 37 X 153184317 153184317 + Missense_Mutation SNP C T T TCGA-14-0813-01A-01W-0424-08 TCGA-14-0813-10A-01W-0424-08 Somatic Phase_I Capture Illumina GAIIx 754cd19e-a319-4ddf-887b-ddca4914cdf9 ac74e345-6044-426b-9b56-eee2e8fc9f4b g.chrX:153184317C>T uc004fjk.1 - 7 1043 c.1001G>A c.(1000-1002)CGC>CAC p.R334H ARHGAP4_uc011mzf.1_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.1_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 334 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTAGTCAAAGCGCAGCGGGGG 0.617