Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut LRP1 4035 broad.mit.edu 37 12 57589486 57589486 + Missense_Mutation SNP G G A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr12:57589486G>A ENST00000243077.3 + 53 8949 c.8483G>A c.(8482-8484)cGc>cAc p.R2828H NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 2828 LDL-receptor class A 18. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGCCAGAACCGCCAGTGCATC 0.617000 4 38 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16893359 16893359 + Missense_Mutation SNP C C A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr10:16893359C>A ENST00000377833.4 - 60 9603 c.9538G>T c.(9538-9540)Gac>Tac p.D3180Y NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3180 CUB 24. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAATTCTTGTCATACATTCCA 0.408000 8 82 0.000274275 0.000302406 1 1 0 NMBR 4829 broad.mit.edu 37 6 142409682 142409682 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr6:142409682C>T ENST00000258042.1 - 1 254 c.114G>A c.(112-114)acG>acA p.T38T RP11-137J7.2_ENST00000454401.1_RNA NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 38 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TCACCAACTCCGTGGTGGTCC 0.597000 3 28 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125088516 125088516 + Missense_Mutation SNP C C G TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr8:125088516C>G ENST00000522917.1 + 32 4376 c.4170C>G c.(4168-4170)atC>atG p.I1390M FER1L6_ENST00000399018.1_Missense_Mutation_p.I1390M|FER1L6-AS2_ENST00000520031.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1390 C2 5. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGACAGAAATCAAAGACCGGG 0.423000 4 174 0 0 1 0 0 LRRC8E 80131 broad.mit.edu 37 19 7963570 7963570 + Missense_Mutation SNP C C G TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr19:7963570C>G ENST00000306708.6 + 3 264 c.163C>G c.(163-165)Cta>Gta p.L55V NM_001268284.1|NM_001268285.1|NM_025061.4 NP_001255213.1|NP_001255214.1|NP_079337.2 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member E 55 integral to membrane breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10) 35 GATCATCTGTCTACCCAATCA 0.542000 4 124 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186508014 186508014 + Missense_Mutation SNP G G C TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr3:186508014G>C ENST00000392481.2 - 10 1194 c.913C>G c.(913-915)Cag>Gag p.Q305E RFC4_ENST00000433496.1_Missense_Mutation_p.Q278E|RFC4_ENST00000296273.2_Missense_Mutation_p.Q305E NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 305 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding p.Q305_N308del(1) breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TTGACGAGCTGAGTTGCTGCA 0.343000 5 65 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183658121 183658121 + Missense_Mutation SNP G G A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr4:183658121G>A ENST00000511685.1 + 17 3251 c.3128G>A c.(3127-3129)aGa>aAa p.R1043K TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.R1043K teneurin transmembrane protein 3 GTAGTAGGAAGACTCTTCCAA 0.383000 4 78 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.470A>G c.(469-471)cAt>cGt p.H157R AGAP10_ENST00000452145.2_Splice_Site_p.H132R|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228R ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 3 28 0 0 1 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92973291 92973291 + Silent SNP C C G TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr15:92973291C>G ENST00000268164.3 + 2 348 c.111C>G c.(109-111)ggC>ggG p.G37G ST8SIA2_ENST00000539113.1_Intron NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 37 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) ATTCGGGAGGCAGAGGTACAA 0.403000 4 61 0 0 1 0 0 SRM 6723 broad.mit.edu 37 1 11115109 11115109 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr1:11115109C>T ENST00000376957.2 - 7 878 c.798G>A c.(796-798)ctG>ctA p.L266L NM_003132.2 NP_003123.2 P19623 SPEE_HUMAN spermidine synthase 266 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-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;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) GCTGCTGTGTCAGCGGCTGCA 0.607000 6 85 0 0 1 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 3 9 0 0 1 0 0 GLUD1P7 414212 broad.mit.edu 37 10 48968566 48968566 + RNA SNP A A G TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr10:48968566A>G ENST00000594520.1 + 0 723 ACAGGATAACAAACTGGAAAA 0.318000 5 26 0 0 1 0 0 DUSP7 1849 broad.mit.edu 37 3 52088254 52088254 + Silent SNP G G A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr3:52088254G>A ENST00000495880.1 - 2 837 c.654C>T c.(652-654)gaC>gaT p.D218D DUSP7_ENST00000296483.6_Silent_p.D167D Q16829 DUS7_HUMAN dual specificity phosphatase 7 218 Ser-rich. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCGACTCGCCGTCGGAGCAGT 0.672000 4 44 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5423463 5423463 + Missense_Mutation SNP C C A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr18:5423463C>A ENST00000341928.2 - 11 1593 c.1253G>T c.(1252-1254)aGa>aTa p.R418I EPB41L3_ENST00000540638.2_Missense_Mutation_p.R418I|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R418I|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R418I|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R418I NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 418 Hydrophilic. cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 CGCACTGGCTCTTCTCGTTTG 0.478000 4 59 0.00909568 0.00931224 1 1 0 ZNF280B 140883 broad.mit.edu 37 22 22843566 22843566 + Missense_Mutation SNP G G A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr22:22843566G>A ENST00000360412.2 - 4 933 c.158C>T c.(157-159)tCa>tTa p.S53L ZNF280B_ENST00000406426.1_Missense_Mutation_p.S53L NM_080764.2 NP_542942.1 Q86YH2 Z280B_HUMAN zinc finger protein 280B 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2) 22 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GACTGGTTTTGAATTTGAAGT 0.403000 6 117 0 0 1 0 0 FASTKD3 79072 broad.mit.edu 37 5 7859577 7859577 + Nonsense_Mutation SNP G G A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr5:7859577G>A ENST00000264669.5 - 7 2096 c.1960C>T c.(1960-1962)Caa>Taa p.Q654* FASTKD3_ENST00000513658.1_5'UTR|MTRR_ENST00000502509.1_Intron NM_024091.3 NP_076996.2 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 654 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 ACAGTGTTTTGAGAAAACAGT 0.323000 3 49 0 0 1 0 0 HMGN2P46 283651 broad.mit.edu 37 15 45848224 45848224 + RNA SNP G G T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr15:45848224G>T ENST00000409454.1 + 0 1219 TGCAGATTTTGTTTAGCTTTT 0.318000 7 14 0.00621372 0.00651682 1 1 0 ZNF773 374928 broad.mit.edu 37 19 58016043 58016043 + Nonstop_Mutation SNP G G C TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr19:58016043G>C ENST00000601674.1 + 3 412 c.179G>C c.(178-180)tGa>tCa p.*60S ZNF773_ENST00000282292.4_Missense_Mutation_p.E18Q|ZNF773_ENST00000593916.1_Missense_Mutation_p.E17Q|ZNF773_ENST00000598770.1_Missense_Mutation_p.E17Q|ZNF773_ENST00000599847.1_Missense_Mutation_p.E18Q TGTGACCTTTGAGGACGTGGC 0.507000 4 132 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99969182 99969182 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr10:99969182C>T ENST00000298999.3 + 5 1614 c.1311C>T c.(1309-1311)ttC>ttT p.F437F R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.F437F|R3HCC1L_ENST00000314594.5_5'UTR NM_014472.4 NP_055287 R3H domain and coiled-coil containing 1-like CTGAAGATTTCAGCAACCCTT 0.398000 4 68 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62414740 62414740 + Missense_Mutation SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr11:62414740C>T ENST00000330574.2 - 2 2864 c.2812G>A c.(2812-2814)Gag>Aag p.E938K NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 938 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 AGACGCACCTCGAAAGGTGCC 0.572000 5 139 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28908175 28908175 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr13:28908175C>T ENST00000282397.4 - 18 2831 c.2580G>A c.(2578-2580)gtG>gtA p.V860V FLT1_ENST00000540678.1_Silent_p.V78V NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 860 Protein kinase. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity p.V860V(1) NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TCAGCATTTTCACAGCCACAG 0.423000 8 116 0 0 1 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947154 57947154 + Missense_Mutation SNP C C G TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr11:57947154C>G ENST00000335397.3 + 3 554 c.238C>G c.(238-240)Cag>Gag p.Q80E NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) CACTGTCCCCCAGATGCTGGC 0.502000 4 112 0 0 1 0 0 DLG1 1739 broad.mit.edu 37 3 196867115 196867115 + Silent SNP G G A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr3:196867115G>A ENST00000346964.2 - 9 897 c.708C>T c.(706-708)ttC>ttT p.F236F DLG1_ENST00000448528.2_Silent_p.F236F|DLG1_ENST00000392382.2_Silent_p.F203F|DLG1_ENST00000357674.4_Silent_p.F203F|DLG1_ENST00000443183.1_Silent_p.F120F|DLG1_ENST00000452595.1_Silent_p.F120F|DLG1_ENST00000314062.3_Silent_p.F185F|DLG1_ENST00000419354.1_Silent_p.F236F|DLG1_ENST00000450955.1_Silent_p.F203F|DLG1_ENST00000422288.1_Silent_p.F185F NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 236 PDZ 1. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) CTGCAATGCTGAAACCAAGCC 0.418000 5 78 0 0 1 0 0 SNHG1 23642 broad.mit.edu 37 11 62620850 62620850 + RNA SNP C C G TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr11:62620850C>G ENST00000364799.1 - 0 17 NR_002560.1 GGGCGGTATTCAACTCATCAC 0.448000 6 69 0 0 1 0 0 CREB3 10488 broad.mit.edu 37 9 35735306 35735306 + Silent SNP C C G TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr9:35735306C>G ENST00000353704.2 + 6 984 c.546C>G c.(544-546)gtC>gtG p.V182V CREB3_ENST00000486056.1_3'UTR NM_006368.4 NP_006359.3 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 206 chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1) 9 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CCCCCAGGGTCTTGAAATACA 0.448000 16 180 0 0 1 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216766 26216766 + Missense_Mutation SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr6:26216766C>T ENST00000244601.3 - 1 106 c.106G>A c.(106-108)Gag>Aag p.E36K NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 36 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) GAGTAGCTCTCCTTACGACTG 0.517000 5 142 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51889737 51889737 + Missense_Mutation SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr6:51889737C>T ENST00000371117.3 - 32 5146 c.4871G>A c.(4870-4872)cGg>cAg p.R1624Q PKHD1_ENST00000340994.4_Missense_Mutation_p.R1624Q NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1624 IPT/TIG 11. R -> W (in ARPKD). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AACAATGCACCGGATGAGCTC 0.507000 5 98 0 0 1 0 0 IQCD 115811 broad.mit.edu 37 12 113645935 113645935 + Missense_Mutation SNP G G C TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr12:113645935G>C ENST00000546692.1 - 2 410 c.37C>G c.(37-39)Cag>Gag p.Q13E IQCD_ENST00000416617.2_Missense_Mutation_p.Q13E|IQCD_ENST00000299732.2_Missense_Mutation_p.Q13E Q96DY2 IQCD_HUMAN IQ motif containing D 13 endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 GCAGGGGCCTGATACAAAGGG 0.517000 3 54 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121692598 121692598 + Missense_Mutation SNP G G A TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr10:121692598G>A ENST00000369075.3 + 17 2912 c.2840G>A c.(2839-2841)cGa>cAa p.R947Q SEC23IP_ENST00000543134.1_Missense_Mutation_p.R736Q|SEC23IP_ENST00000475542.1_3'UTR NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 947 DDHD. Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding p.R947Q(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) GGAGGCCGCCGAATTGACTAC 0.368000 4 101 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 3 18 0 0 1 0 0 PRSS54 221191 broad.mit.edu 37 16 58325002 58325002 + Missense_Mutation SNP C C A rs145966369 byFrequency TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr16:58325002C>A ENST00000219301.4 - 4 518 c.124G>T c.(124-126)Gac>Tac p.D42Y PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.D42Y NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 42 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TCCTTGGGGTCAGGACCGTAG 0.627000 4 27 0.000602214 0.00064738 1 1 0 ZNF263 10127 broad.mit.edu 37 16 3339455 3339455 + Nonsense_Mutation SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr16:3339455C>T ENST00000219069.5 + 6 1825 c.949C>T c.(949-951)Cag>Tag p.Q317* ZNF263_ENST00000574253.1_Silent_p.L150L|ZNF263_ENST00000538765.1_5'UTR NM_005741.4 NP_005732.2 O14978 ZN263_HUMAN zinc finger protein 263 317 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.Q317*(1) NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 CATCCACCCTCAGGTGCTGCT 0.562000 11 147 0 0 1 0 0 PDE8B 8622 broad.mit.edu 37 5 76621425 76621425 + Missense_Mutation SNP G G C TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr5:76621425G>C ENST00000264917.5 + 3 506 c.461G>C c.(460-462)aGa>aCa p.R154T PDE8B_ENST00000340978.3_Missense_Mutation_p.R154T|PDE8B_ENST00000342343.4_Missense_Mutation_p.R134T|PDE8B_ENST00000346042.3_Missense_Mutation_p.R154T|PDE8B_ENST00000333194.4_Missense_Mutation_p.R154T NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 154 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GCCTGCGACAGAGCTGGTTAT 0.408000 5 79 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6238036 6238036 + Silent SNP G G A rs149660459 TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr18:6238036G>A ENST00000400104.3 - 10 911 c.711C>T c.(709-711)tgC>tgT p.C237C L3MBTL4_ENST00000535782.1_Silent_p.C50C|L3MBTL4_ENST00000284898.6_Silent_p.C237C|L3MBTL4_ENST00000317931.7_Silent_p.C237C|L3MBTL4_ENST00000400105.2_Silent_p.C237C Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 237 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TATTAACATCGCACCTGCAAA 0.438000 5 60 0 0 1 0 0 KERA 11081 broad.mit.edu 37 12 91449379 91449379 + Missense_Mutation SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr12:91449379C>T ENST00000266719.3 - 2 927 c.680G>A c.(679-681)gGa>gAa p.G227E NM_007035.3 NP_008966.1 O60938 KERA_HUMAN keratocan 227 response to stimulus|visual perception proteinaceous extracellular matrix breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2) 19 TTCTGGTATTCCTTCAATGGA 0.388000 7 108 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98742417 98742417 + Nonsense_Mutation SNP G G T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr10:98742417G>T ENST00000286067.2 + 1 1377 c.1270G>T c.(1270-1272)Gag>Tag p.E424* NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 424 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGCTGAGGTTGAGTCTGGAGA 0.512000 6 170 0.0293803 0.0293803 1 1 0 KIAA1429 25962 broad.mit.edu 37 8 95550535 95550535 + Missense_Mutation SNP G G C TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr8:95550535G>C ENST00000297591.5 - 3 294 c.219C>G c.(217-219)ttC>ttG p.F73L KIAA1429_ENST00000437199.1_Missense_Mutation_p.F73L|KIAA1429_ENST00000421249.2_Missense_Mutation_p.F73L NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 73 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTACATTGTTGAAGAATAAGT 0.368000 4 103 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32354703 32354703 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr20:32354703C>T ENST00000375200.1 + 9 1634 c.1269C>T c.(1267-1269)tcC>tcT p.S423S ZNF341_ENST00000342427.2_Silent_p.S416S NM_001282933.1 NP_001269862.1 Q9BYN7 ZN341_HUMAN zinc finger protein 341 423 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 AGGCCTTGTCCACAGCTGGTG 0.622000 5 139 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223991955 223991955 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr1:223991955C>T ENST00000391878.2 - 7 951 c.183G>A c.(181-183)gaG>gaA p.E61E TP53BP2_ENST00000343537.7_Silent_p.E190E NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 184 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) CTTCCTGATTCTCAGCTATTT 0.398000 9 126 0 0 1 0 0 SDHB 6390 broad.mit.edu 37 1 17349184 17349184 + Silent SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr1:17349184C>T ENST00000375499.3 - 7 834 c.684G>A c.(682-684)gaG>gaA p.E228E NM_003000.2 NP_002991.2 P21912 DHSB_HUMAN succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 228 respiratory electron transport chain|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II 2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 10 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) Succinic acid(DB00139) CCAGGCGCTCCTCTGTGAAGT 0.567000 """Mis, N, F""" """paraganglioma, pheochromocytoma""" Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome 4 52 0 0 1 0 0 ELAVL3 1995 broad.mit.edu 37 19 11565542 11565542 + Nonsense_Mutation SNP C C T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr19:11565542C>T ENST00000359227.3 - 7 1327 c.903G>A c.(901-903)tgG>tgA p.W301* ELAVL3_ENST00000438662.2_Nonsense_Mutation_p.W294* NM_001420.3|NM_032281.2 NP_001411.2|NP_115657.2 Q14576 ELAV3_HUMAN ELAV like neuron-specific RNA binding protein 3 301 RRM 3. cell differentiation|nervous system development AU-rich element binding|nucleotide binding breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 15 CGAACAGCTGCCACAGCACGC 0.642000 5 64 0 0 1 0 0 MST1L 11223 broad.mit.edu 37 1 17083935 17083936 + RNA INS - - GAGA TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr1:17083935_17083936insGAGA ENST00000455405.2 - 0 700 CAGCAATGACTAGCCTGCTTCA 0.599 2 4 --- --- --- --- MTG1 92170 broad.mit.edu 37 10 135216208 135216208 + Frame_Shift_Del DEL A A - TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr10:135216208delA ENST00000468317.2 + 10 953 c.698delA c.(697-699)gacfs p.D233fs MTG1_ENST00000317502.6_Frame_Shift_Del_p.D228fs|MTG1_ENST00000477902.2_Frame_Shift_Del_p.D187fs ACGGTGCTGGACCACCTGGTC 0.582 2 4 --- --- --- --- BTBD7 55727 broad.mit.edu 37 14 93761192 93761193 + Frame_Shift_Ins INS - - T TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr14:93761192_93761193insT ENST00000334746.5 - 3 480_481 c.173_174insA c.(172-174)aagfs p.K58fs BTBD7_ENST00000555525.1_Frame_Shift_Ins_p.K58fs|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Frame_Shift_Ins_p.K58fs NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 58 p.K58fs*44(2)|p.R59fs*14(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CAGAGGTTCTCTTTTTTTTGTC 0.441 8 163 --- --- --- --- MIR7162 102466227 broad.mit.edu 37 15 62538522 62538523 + RNA INS - - GA rs3055695 TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr15:62538522_62538523insGA ENST00000570077.1 - 0 693_694 GGGGGCTCCGGGTAGGGGTTCA 0.609 2 4 --- --- --- --- IGHV1OR16-2 28314 broad.mit.edu 37 16 32989896 32989897 + RNA DEL TA TA - TCGA-4Z-AA7N-01A-11D-A391-08 TCGA-4Z-AA7N-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 15111ff7-71fb-4710-a5d5-207a9b2a4f11 55fc4c20-d1b1-46dd-a328-477ba589befc g.chr16:32989896_32989897delTA ENST00000567619.1 - 0 499 TCCACTCCTGTATTCTCTCCAC 0.510 2 4 --- --- --- ---