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 C5AR1 728 broad.mit.edu 37 19 47823557 47823557 + Missense_Mutation SNP C C T rs141160351 TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:47823557C>T ENST00000355085.3 + 2 545 c.523C>T c.(523-525)Cgg>Tgg p.R175W NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 175 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) CTTCCTGTACCGGGTGGTCCG 0.632000 29 133 0 0 0.007291 0 0 PLA2G3 50487 broad.mit.edu 37 22 31535944 31535944 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr22:31535944C>T ENST00000215885.3 - 1 649 c.397G>A c.(397-399)Gca>Aca p.A133T NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 133 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TGCCCTGCTGCTCGCTTCTTC 0.632000 6 77 0 0 0.001984 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43944807 43944807 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr12:43944807C>T ENST00000389420.3 - 2 357 c.358G>A c.(358-360)Gac>Aac p.D120N ADAMTS20_ENST00000553158.1_Missense_Mutation_p.D120N NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 120 proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GGCCCTGCGTCGCTCTCCCAG 0.662000 5 29 0 0 0.000602 0 0 INADL 10207 broad.mit.edu 37 1 62263043 62263043 + Missense_Mutation SNP C C G rs145732252 TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr1:62263043C>G ENST00000371158.2 + 11 1459 c.1345C>G c.(1345-1347)Cta>Gta p.L449V INADL_ENST00000316485.6_Missense_Mutation_p.L449V NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 449 PDZ 3. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 ACACCTAACCCTAGTTCGAAG 0.443000 27 96 0 0 0.004656 0 0 FSTL4 23105 broad.mit.edu 37 5 132652310 132652310 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr5:132652310C>T ENST00000265342.7 - 5 693 c.444G>A c.(442-444)ttG>ttA p.L148L NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 148 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GGACATTCTTCAAGCGGGCGT 0.547000 OREG0016777 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 80 0 0 0.006214 0 0 TNS1 7145 broad.mit.edu 37 2 218713727 218713727 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:218713727C>T ENST00000171887.4 - 17 1590 c.1138G>A c.(1138-1140)Ggg>Agg p.G380R TNS1_ENST00000430930.1_Missense_Mutation_p.G380R|TNS1_ENST00000419504.1_Missense_Mutation_p.G380R|TNS1_ENST00000480665.1_5'UTR NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 380 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) TTAACAGCCCCGGTGCTGCCG 0.607000 41 163 0 0 0.007835 0 0 SVEP1 79987 broad.mit.edu 37 9 113308490 113308490 + Missense_Mutation SNP C C G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr9:113308490C>G ENST00000401783.2 - 3 1205 c.869G>C c.(868-870)cGa>cCa p.R290P SVEP1_ENST00000302728.8_Missense_Mutation_p.R290P|SVEP1_ENST00000374461.1_Missense_Mutation_p.R267P|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.R267P NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 290 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCTTCCCATTCGGTCACAGCA 0.443000 3 1 0 0 0.004672 0 0 PTGS1 5742 broad.mit.edu 37 9 125154466 125154466 + Splice_Site SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr9:125154466A>G ENST00000362012.2 + 11 1449 c.e11-1 PTGS1_ENST00000223423.4_Splice_Site|PTGS1_ENST00000373698.5_Splice_Site|PTGS1_ENST00000540753.1_Splice_Site NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) ATCTCCTTGTAGGAGAGAAGG 0.488000 10 24 0 0 0.006214 0 0 LYST 1130 broad.mit.edu 37 1 235940477 235940477 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr1:235940477G>A ENST00000389794.3 - 17 5520 c.5346C>T c.(5344-5346)agC>agT p.S1782S LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Silent_p.S1782S Q99698 LYST_HUMAN lysosomal trafficking regulator 1782 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CTAATAAGATGCTCTGAACTT 0.378000 21 84 0 0 0.012319 0 0 MICALL2 79778 broad.mit.edu 37 7 1477796 1477796 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr7:1477796G>A ENST00000297508.7 - 12 2423 c.2248C>T c.(2248-2250)Cgg>Tgg p.R750W MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.R538W NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 750 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GCGTCCAGCCGCCTCTCGATG 0.726000 5 8 0 0 0.000602 0 0 CPO 130749 broad.mit.edu 37 2 207824389 207824389 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:207824389G>A ENST00000272852.3 + 5 453 c.407G>A c.(406-408)cGc>cAc p.R136H NM_173077.2 NP_775100.1 Q8IVL8 CBPO_HUMAN carboxypeptidase O 136 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142) TCAAGTATACGCAAGCTCCTT 0.353000 4 46 0 0 0.000602 0 0 NLRP1 22861 broad.mit.edu 37 17 5486116 5486116 + Missense_Mutation SNP G G C rs141118572 TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr17:5486116G>C ENST00000345221.3 - 2 876 c.322C>G c.(322-324)Ccc>Gcc p.P108A NLRP1_ENST00000572272.1_Missense_Mutation_p.P108A|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.P108A|NLRP1_ENST00000262467.5_Missense_Mutation_p.P108A|NLRP1_ENST00000354411.3_Missense_Mutation_p.P108A|NLRP1_ENST00000269280.4_Missense_Mutation_p.P108A NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 108 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) GGTTGGCTGGGAGACCCCAGG 0.602000 9 37 0 0 0.006214 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19413942 19413942 + Silent SNP C C G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr12:19413942C>G ENST00000538714.1 + 7 601 c.597C>G c.(595-597)ctC>ctG p.L199L PLEKHA5_ENST00000359180.3_Silent_p.L199L|PLEKHA5_ENST00000299275.6_Silent_p.L199L|PLEKHA5_ENST00000539256.1_Intron|PLEKHA5_ENST00000543806.1_Silent_p.L91L|PLEKHA5_ENST00000317589.4_Silent_p.L199L|PLEKHA5_ENST00000309364.4_Silent_p.L199L|PLEKHA5_ENST00000424268.1_Silent_p.L91L|PLEKHA5_ENST00000510738.2_3'UTR|PLEKHA5_ENST00000355397.3_Silent_p.L199L|PLEKHA5_ENST00000429027.2_Silent_p.L199L NM_001143821.2 NP_001137293.2 Q9HAU0 PKHA5_HUMAN pleckstrin homology domain containing, family A member 5 199 PH. 1-phosphatidylinositol binding|protein binding p.L199L(2) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) ACCTTTGCCTCTTTTATTATA 0.303000 21 123 0 0 0.003330 0 0 RP11-468E2.4 0 broad.mit.edu 37 14 24629560 24629560 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr14:24629560C>T ENST00000558468.1 + 12 1534 c.1534C>T c.(1534-1536)Cgc>Tgc p.R512C RNF31_ENST00000324103.6_Missense_Mutation_p.R1037C|RNF31_ENST00000382687.3_Missense_Mutation_p.R886C|RNF31_ENST00000559275.1_Missense_Mutation_p.R886C CCTGCACGTACGCCCCCAGCC 0.582000 OREG0022619 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 111 0 0 0.002780 0 0 TSPYL5 85453 broad.mit.edu 37 8 98290036 98290036 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr8:98290036C>T ENST00000322128.3 - 1 140 c.37G>A c.(37-39)Gcc>Acc p.A13T NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 13 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) CGGTTTTTGGCGCGGGAGGAC 0.692000 4 26 0 0 0.000602 0 0 TCAIM 285343 broad.mit.edu 37 3 44399311 44399311 + Missense_Mutation SNP G G C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr3:44399311G>C ENST00000342649.4 + 3 535 c.108G>C c.(106-108)ttG>ttC p.L36F TCAIM_ENST00000396078.3_Missense_Mutation_p.L36F|TCAIM_ENST00000383746.3_Missense_Mutation_p.L36F|TCAIM_ENST00000417237.1_Missense_Mutation_p.L36F NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial TCAATGCCTTGAGGCCTTTCT 0.388000 6 24 0 0 0.001984 0 0 PRSS12 8492 broad.mit.edu 37 4 119219987 119219987 + Missense_Mutation SNP T T C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr4:119219987T>C ENST00000296498.3 - 9 2020 c.1738A>G c.(1738-1740)Atc>Gtc p.I580V NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 580 SRCR 4. membrane scavenger receptor activity endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 TCTTGCTTGATACAGTCAGCC 0.448000 12 63 0 0 0.010729 0 0 UNC79 57578 broad.mit.edu 37 14 94120290 94120290 + Silent SNP G G C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr14:94120290G>C ENST00000553484.1 + 39 6538 c.6384G>C c.(6382-6384)ggG>ggC p.G2128G UNC79_ENST00000555664.1_Silent_p.G2067G|UNC79_ENST00000256339.4_Silent_p.G1929G|UNC79_ENST00000393151.2_Silent_p.G2106G Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2106 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TTCCAGATGGGACTTTTTTAC 0.483000 5 162 0 0 0.001168 0 0 ARHGEF2 9181 broad.mit.edu 37 1 155924729 155924729 + Missense_Mutation SNP C C G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr1:155924729C>G ENST00000368316.1 - 18 2133 c.1663G>C c.(1663-1665)Gag>Cag p.E555Q ARHGEF2_ENST00000361247.4_Missense_Mutation_p.E583Q|ARHGEF2_ENST00000368315.3_Missense_Mutation_p.E584Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.E582Q|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.E555Q Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor (GEF) 2 583 PH. actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2) 40 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) TCCTCTGTCTCAATCAGGGGG 0.478000 14 71 0 0 0.002450 0 0 ZMYM6 9204 broad.mit.edu 37 1 35484994 35484994 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr1:35484994G>A ENST00000357182.4 - 4 615 c.388C>T c.(388-390)Ctg>Ttg p.L130L ZMYM6_ENST00000373340.2_Silent_p.L130L|ZMYM6_ENST00000317538.5_Silent_p.L130L|ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373333.1_Silent_p.L130L|ZMYM6_ENST00000487874.1_Silent_p.L130L NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 130 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GGAGGTGGCAGGCAGGCAGGT 0.403000 14 42 0 0 0.001855 0 0 PTPRD 5789 broad.mit.edu 37 9 8499728 8499728 + Silent SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr9:8499728A>G ENST00000381196.4 - 22 2784 c.2241T>C c.(2239-2241)taT>taC p.Y747Y PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Silent_p.Y747Y|PTPRD_ENST00000360074.4_Silent_p.Y734Y|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000358503.5_Silent_p.Y734Y|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000356435.5_Silent_p.Y747Y|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397611.3_Intron NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 747 Fibronectin type-III 5. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AATGCACCTGATATCCTCTTA 0.498000 TSP Lung(15;0.13) 16 88 0 0 0.004990 0 0 FAT4 79633 broad.mit.edu 37 4 126412581 126412581 + Silent SNP C C A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr4:126412581C>A ENST00000394329.3 + 17 14617 c.14604C>A c.(14602-14604)ccC>ccA p.P4868P FAT4_ENST00000335110.5_Silent_p.P3109P NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4868 P -> S (in Ref. 4; BAB15534). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CCAGAATGCCCAAATTATCTC 0.458000 17 46 3.52763e-06 3.86095e-06 0.004990 1 0 ALKBH2 121642 broad.mit.edu 37 12 109530419 109530419 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr12:109530419C>T ENST00000429722.2 - 2 536 c.173G>A c.(172-174)cGg>cAg p.R58Q ALKBH2_ENST00000343075.3_Missense_Mutation_p.R58Q|ALKBH2_ENST00000440112.2_Missense_Mutation_p.R58Q NM_001145374.1 NP_001138846.1 Q6NS38 ALKB2_HUMAN alkB, alkylation repair homolog 2 (E. coli) 58 DNA dealkylation involved in DNA repair|oxidative DNA demethylation nucleoplasm cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(3)|large_intestine(1)|lung(3) 8 Vitamin C(DB00126) CCGAATGTGCCGCCAGCTAGG 0.547000 Direct reversal of damage 22 132 0 0 0.012319 0 0 TRPC4 7223 broad.mit.edu 37 13 38211559 38211559 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr13:38211559C>T ENST00000379705.3 - 11 3272 c.2415G>A c.(2413-2415)ccG>ccA p.P805P TRPC4_ENST00000355779.2_Intron|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Intron|TRPC4_ENST00000379679.1_Silent_p.P632P|TRPC4_ENST00000426868.2_Intron|TRPC4_ENST00000447043.1_Intron|TRPC4_ENST00000379681.3_Silent_p.P810P|TRPC4_ENST00000338947.5_Silent_p.P632P Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 805 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) CTGCTGATCTCGGATGAATCA 0.443000 10 79 0 0 0.010729 0 0 ZNF649 65251 broad.mit.edu 37 19 52394087 52394087 + Missense_Mutation SNP C C A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:52394087C>A ENST00000354957.3 - 5 1586 c.1302G>T c.(1300-1302)gaG>gaT p.E434D CTC-429C10.2_ENST00000600329.1_RNA|ZNF649_ENST00000600738.1_Missense_Mutation_p.E406D NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 434 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTTTCTCACACTCATCACAGC 0.438000 27 145 3.01185e-09 3.34918e-09 0.003954 1 0 LAMA3 3909 broad.mit.edu 37 18 21330961 21330961 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr18:21330961C>T ENST00000313654.9 + 5 1005 c.764C>T c.(763-765)gCa>gTa p.A255V LAMA3_ENST00000399516.3_Missense_Mutation_p.A255V NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 255 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTACCAAGGCAACAAACATC 0.473000 33 85 0 0 0.012213 0 0 YTHDC1 91746 broad.mit.edu 37 4 69203343 69203343 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr4:69203343G>A ENST00000344157.4 - 3 741 c.406C>T c.(406-408)Cgg>Tgg p.R136W YTHDC1_ENST00000355665.3_Missense_Mutation_p.R136W|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R136W NM_001031732.2 NP_001026902.1 Q96MU7 YTDC1_HUMAN YTH domain containing 1 136 NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TCCCTTTTCCGGACACAGGTT 0.403000 5 43 0 0 0.000602 0 0 REV3L 5980 broad.mit.edu 37 6 111697700 111697700 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr6:111697700C>T ENST00000435970.1 - 15 2440 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K REV3L_ENST00000368802.3_Missense_Mutation_p.E620K|REV3L_ENST00000358835.3_Missense_Mutation_p.E620K|REV3L_ENST00000368805.1_Missense_Mutation_p.E620K O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 620 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TAAGTGCTTTCGTTTGTAAAA 0.333000 DNA polymerases (catalytic subunits) 9 50 0 0 0.008291 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192500 132192500 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr7:132192500G>A ENST00000359827.3 - 2 1915 c.953C>T c.(952-954)gCg>gTg p.A318V PLXNA4_ENST00000423507.2_Missense_Mutation_p.A318V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.A318V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.A318V Q9HCM2 PLXA4_HUMAN plexin A4 318 Sema. integral to membrane|intracellular|plasma membrane p.A318V(3) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CACGGCCCCCGCTTTGGACAG 0.582000 7 42 0 0 0.004482 0 0 GZMK 3003 broad.mit.edu 37 5 54320494 54320494 + Missense_Mutation SNP A A T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr5:54320494A>T ENST00000231009.2 + 2 141 c.71A>T c.(70-72)aAt>aTt p.N24I CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K (granzyme 3; tryptase II) 24 proteolysis extracellular region serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4) 15 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GTAGGTTTCAATATGGAAATT 0.383000 7 19 0 0 0.003080 0 0 DPYSL5 56896 broad.mit.edu 37 2 27121505 27121505 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:27121505C>T ENST00000288699.6 + 2 296 c.138C>T c.(136-138)ggC>ggT p.G46G DPYSL5_ENST00000401478.1_Silent_p.G46G NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 46 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.G46G(1) breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATCCCTGGCGGGGCCAAGG 0.592000 14 57 0 0 0.001855 0 0 TAAR6 319100 broad.mit.edu 37 6 132891604 132891604 + Silent SNP T T C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr6:132891604T>C ENST00000275198.1 + 1 144 c.144T>C c.(142-144)ttT>ttC p.F48F NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 48 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TGGCTGTGTTTGGAAACCTCC 0.527000 18 110 0 0 0.006122 0 0 C7orf49 78996 broad.mit.edu 37 7 134852541 134852541 + Silent SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr7:134852541A>G ENST00000430372.1 - 3 478 c.153T>C c.(151-153)acT>acC p.T51T C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000424142.1_5'UTR|C7orf49_ENST00000483029.2_5'UTR|C7orf49_ENST00000393114.3_Silent_p.T52T NM_001243751.1|NM_024033.3 NP_001230680.1|NP_076938.2 Q9BWK5 MRI_HUMAN chromosome 7 open reading frame 49 52 cytoplasm endometrium(1)|large_intestine(4)|lung(1)|ovary(1) 7 TGCAGTACACAGTCCTTGTCG 0.473000 3 86 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7578177 7578177 + Splice_Site SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr17:7578177C>T ENST00000420246.2 - 6 804 c.672_splice c.e6+1 p.E224_splice TP53_ENST00000445888.2_Splice_Site_p.E224_splice|TP53_ENST00000359597.4_Splice_Site_p.E224_splice|TP53_ENST00000413465.2_Splice_Site_p.E224_splice|TP53_ENST00000455263.2_Splice_Site_p.E224_splice|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Splice_Site_p.E224_splice NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 224 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) CAAACCAGACCTCAGGCGGCT 0.532000 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 4 24 0 0 0.009096 0 0 MAPK14 1432 broad.mit.edu 37 6 36020563 36020563 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr6:36020563C>T ENST00000229795.3 + 2 651 c.204C>T c.(202-204)acC>acT p.T68T MAPK14_ENST00000468133.1_5'UTR|MAPK14_ENST00000310795.4_Silent_p.T68T|MAPK14_ENST00000229794.4_Silent_p.T68T NM_001315.2 NP_001306.1 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 68 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|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 ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1) 16 CGAAAAGAACCTACAGAGAAC 0.378000 8 36 0 0 0.003080 0 0 SDAD1P1 157489 broad.mit.edu 37 8 26238106 26238106 + RNA SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr8:26238106G>A ENST00000519902.1 - 0 1842 TCAAGTGAACGGCTAAAAAGT 0.388000 4 37 0 0 0.000602 0 0 ZNF761 388561 broad.mit.edu 37 19 53958193 53958193 + RNA SNP T T C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:53958193T>C ENST00000454407.1 + 0 885 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) GATCAAGCTTTCATTCGCATC 0.393000 17 108 0 0 0.004990 0 0 ACACA 31 broad.mit.edu 37 17 35591984 35591984 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr17:35591984C>T ENST00000353139.5 - 25 3633 c.3152G>A c.(3151-3153)cGa>cAa p.R1051Q ACACA_ENST00000394406.2_Missense_Mutation_p.R1014Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R956Q|ACACA_ENST00000335166.5_Missense_Mutation_p.R936Q NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1014 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) ATTCTCTTCTCGGAGGGCGAA 0.393000 11 49 0 0 0.008291 0 0 CCDC85A 114800 broad.mit.edu 37 2 56420319 56420319 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:56420319C>T ENST00000407595.2 + 2 1486 c.984C>T c.(982-984)caC>caT p.H328H RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 328 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCCCTGAACACGCCAGGCACA 0.662000 11 112 0 0 0.010729 0 0 FAT4 79633 broad.mit.edu 37 4 126242740 126242740 + Splice_Site SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr4:126242740A>G ENST00000394329.3 + 1 5187 c.5175_splice c.e1+1 p.E1725_splice NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1725 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CAGAGAGCAGAGGTAATGATT 0.353000 8 28 0 0 0.003080 0 0 KLHL15 80311 broad.mit.edu 37 X 24024381 24024381 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chrX:24024381C>T ENST00000328046.8 - 3 685 c.430G>A c.(430-432)Ggc>Agc p.G144S NM_030624.2 NP_085127.2 Q96M94 KLH15_HUMAN kelch-like family member 15 144 BACK. autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 22 ATGTTTACGCCGAAATCATCT 0.428000 13 18 0 0 0.003163 0 0 PTGIS 5740 broad.mit.edu 37 20 48130868 48130868 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr20:48130868G>A ENST00000244043.4 - 7 949 c.920C>T c.(919-921)gCt>gTt p.A307V PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 307 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GCGGACAGCAGCCAGGGCTTC 0.577000 8 57 0 0 0.004482 0 0 PRDM15 63977 broad.mit.edu 37 21 43287419 43287419 + Silent SNP C C T rs137957423 TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr21:43287419C>T ENST00000269844.3 - 5 719 c.609G>A c.(607-609)gcG>gcA p.A203A PRDM15_ENST00000422911.1_Intron|PRDM15_ENST00000398548.1_Intron|PRDM15_ENST00000538201.1_Intron NM_022115.3 NP_071398.3 P57071 PRD15_HUMAN PR domain containing 15 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1) 43 CTCCTCCGTTCGCAATCTTCC 0.532000 20 119 0 0 0.012319 0 0 ERBB4 2066 broad.mit.edu 37 2 212495211 212495211 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:212495211G>A ENST00000342788.4 - 17 2365 c.2055C>T c.(2053-2055)gcC>gcT p.A685A ERBB4_ENST00000402597.1_Silent_p.A675A|ERBB4_ENST00000436443.1_Silent_p.A685A NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 685 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATCTTCTCAAGGCTCTTTTCT 0.393000 TSP Lung(8;0.080) 14 80 0 0 0.002450 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927037 130927037 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr12:130927037G>A ENST00000261655.4 - 8 972 c.809C>T c.(808-810)cCa>cTa p.P270L RIMBP2_ENST00000536002.1_Missense_Mutation_p.P178L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P178L NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 270 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TATGTGGGTTGGGGAGTGGAG 0.577000 15 110 0 0 0.004007 0 0 MS4A14 84689 broad.mit.edu 37 11 60183772 60183772 + Missense_Mutation SNP A A T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:60183772A>T ENST00000300187.6 + 5 1608 c.1331A>T c.(1330-1332)aAc>aTc p.N444I MS4A14_ENST00000531787.1_Missense_Mutation_p.N332I|MS4A14_ENST00000531783.1_Missense_Mutation_p.N477I|MS4A14_ENST00000395005.2_Missense_Mutation_p.N427I NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 444 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 CAACCAGAAAACACTGAACCT 0.413000 10 51 0 0 0.010729 0 0 LRRC6 23639 broad.mit.edu 37 8 133622493 133622493 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr8:133622493G>A ENST00000519595.1 - 10 1157 c.1059C>T c.(1057-1059)gtC>gtT p.V353V LRRC6_ENST00000250173.1_Silent_p.V353V|LRRC6_ENST00000518642.1_Silent_p.V350V Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 353 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTGCAGGAAGGACAAGCTGAA 0.418000 10 67 0 0 0.010729 0 0 EPHA6 285220 broad.mit.edu 37 3 96706230 96706230 + Silent SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr3:96706230A>G ENST00000389672.5 + 3 545 c.507A>G c.(505-507)gtA>gtG p.V169V EPHA6_ENST00000470610.2_Silent_p.V169V|EPHA6_ENST00000542517.1_Silent_p.V75V NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 74 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CATACCAGGTATGTAATGTAA 0.378000 16 127 0 0 0.007413 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769049 31769049 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:31769049G>A ENST00000240587.4 - 2 1977 c.1650C>T c.(1648-1650)atC>atT p.I550I NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 550 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) AGGCGGCATGGATGCTGGGAT 0.552000 12 130 0 0 0.013537 0 0 KIF14 9928 broad.mit.edu 37 1 200550381 200550381 + Nonsense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr1:200550381G>A ENST00000367350.4 - 20 3721 c.3283C>T c.(3283-3285)Cag>Tag p.Q1095* NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 1095 Required for CIT-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 TTGGCTTCCTGAATCATCATT 0.338000 9 68 0 0 0.006214 0 0 USP17L2 377630 broad.mit.edu 37 8 11996173 11996173 + Missense_Mutation SNP G G T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr8:11996173G>T ENST00000333796.3 - 1 413 c.97C>A c.(97-99)Cag>Aag p.Q33K FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 33 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GAAGTCCGCTGGATTTCAGCA 0.527000 17 82 1.33834e-09 1.50023e-09 0.007413 1 0 SERGEF 26297 broad.mit.edu 37 11 18028145 18028145 + Missense_Mutation SNP C C A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:18028145C>A ENST00000265965.5 - 3 496 c.345G>T c.(343-345)atG>atT p.M115I RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532265.1_Start_Codon_SNP_p.M1I|SERGEF_ENST00000528200.1_Missense_Mutation_p.M115I|SERGEF_ENST00000532212.1_5'UTR NM_012139.2 NP_036271.1 Q9UGK8 SRGEF_HUMAN secretion regulating guanine nucleotide exchange factor 115 negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5) 12 CACCTGTGAGCATAATCGTAA 0.468000 14 86 2.61681e-11 2.95721e-11 0.002450 1 0 MTMR8 55613 broad.mit.edu 37 X 63579362 63579362 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chrX:63579362C>T ENST00000374852.3 - 2 137 c.70G>A c.(70-72)Gct>Act p.A24T MTMR8_ENST00000453546.1_Missense_Mutation_p.A24T NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 24 nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 ATCCCATTAGCTGGTTTCTTA 0.408000 14 18 0 0 0.004007 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108828 90108828 + RNA SNP C C G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:90108828C>G ENST00000390271.2 + 0 119 CAGCTTTCCTCTCTGTGACTC 0.478000 9 50 0 0 0.008291 0 0 NID2 22795 broad.mit.edu 37 14 52481904 52481904 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr14:52481904C>T ENST00000216286.5 - 15 3117 c.3118G>A c.(3118-3120)Gtg>Atg p.V1040M NID2_ENST00000541773.1_Missense_Mutation_p.V939M NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 1040 Thyroglobulin type-1 2. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CACTGGGGCACGTACTGGTCA 0.632000 17 81 0 0 0.004990 0 0 OR4X1 390113 broad.mit.edu 37 11 48285470 48285470 + Missense_Mutation SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:48285470A>G ENST00000320048.1 + 1 58 c.58A>G c.(58-60)Agt>Ggt p.S20G NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CCAGAATTGGAGTGAGCAGAG 0.453000 3 55 0 0 0.004672 0 0 SCARNA2 677766 broad.mit.edu 37 1 109642857 109642857 + RNA SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr1:109642857C>T ENST00000458748.1 + 0 43 NR_003023.1 GTGTTGTGTGCGGAGCTGTGG 0.662000 5 18 0 0 0.001984 0 0 LAMA2 3908 broad.mit.edu 37 6 129687384 129687384 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr6:129687384G>A ENST00000421865.2 + 33 4787 c.4738G>A c.(4738-4740)Ggc>Agc p.G1580S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1580 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TGAGTGCACTGGCCTTCTTCT 0.468000 11 88 0 0 0.013537 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79054873 79054873 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr15:79054873C>T ENST00000388820.4 - 23 4985 c.4775G>A c.(4774-4776)cGc>cAc p.R1592H NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 1592 TSP type-1 8. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CTTGACCAGGCGCCGCTGGAC 0.677000 3 12 0 0 0.009096 0 0 ZNF548 147694 broad.mit.edu 37 19 57911175 57911175 + Missense_Mutation SNP C C G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:57911175C>G ENST00000366197.5 + 3 1770 c.1520C>G c.(1519-1521)tCc>tGc p.S507C AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.S519C|AC004076.7_ENST00000597410.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTGTGTGCTCCATGAATGTG 0.408000 9 44 0 0 0.006214 0 0 SLC4A4 8671 broad.mit.edu 37 4 72215743 72215743 + Silent SNP A A T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr4:72215743A>T ENST00000340595.3 + 2 568 c.372A>T c.(370-372)ggA>ggT p.G124G SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.G168G|SLC4A4_ENST00000351898.6_Silent_p.G168G|SLC4A4_ENST00000512686.1_Silent_p.G124G|SLC4A4_ENST00000425175.1_Silent_p.G168G NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 168 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TGGAGAAAGGATCCATCATGC 0.453000 15 70 0 0 0.003163 0 0 TBC1D10C 374403 broad.mit.edu 37 11 67176566 67176566 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:67176566C>T ENST00000312390.5 + 9 984 c.955C>T c.(955-957)Ccc>Tcc p.P319S TBC1D10C_ENST00000542590.1_Missense_Mutation_p.P319S|TBC1D10C_ENST00000526387.1_Missense_Mutation_p.P254L NM_198517.3 NP_940919.1 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 319 intracellular Rab GTPase activator activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TCGAGCCATCCCCCCCGCGCA 0.692000 4 13 0 0 0.009096 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731697 140731697 + Missense_Mutation SNP A A C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr5:140731697A>C ENST00000523390.1 + 1 1870 c.1870A>C c.(1870-1872)Aca>Cca p.T624P PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGGTGCGCACAGCGCGTGC 0.706000 9 57 0 0 0.001855 0 0 MCF2L2 23101 broad.mit.edu 37 3 183041051 183041051 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr3:183041051C>T ENST00000328913.3 - 6 872 c.575G>A c.(574-576)cGc>cAc p.R192H MCF2L2_ENST00000447025.2_Missense_Mutation_p.R192H|MCF2L2_ENST00000414362.2_Missense_Mutation_p.R192H|MCF2L2_ENST00000473233.1_Missense_Mutation_p.R192H NM_015078.2 NP_055893.2 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 192 CRAL-TRIO. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 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) CTGACCGTGGCGATATTCCAA 0.488000 23 79 0 0 0.003330 0 0 KRT38 8687 broad.mit.edu 37 17 39594347 39594347 + Nonsense_Mutation SNP G G T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr17:39594347G>T ENST00000246646.3 - 6 1238 c.1239C>A c.(1237-1239)tgC>tgA p.C413* NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 413 Tail. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) ACACGTACTTGCAGTCCTCGC 0.527000 8 54 0.000157383 0.000169584 0.003080 1 0 PIK3CA 5290 broad.mit.edu 37 3 178921549 178921549 + Missense_Mutation SNP T T G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr3:178921549T>G ENST00000263967.3 + 5 1188 c.1031T>G c.(1030-1032)gTg>gGg p.V344G NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 344 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.V344G(8)|p.V344A(5) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GCAACCTACGTGAATGTAAAT 0.303000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 9 44 0 0 0.006214 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106810420 106810420 + Silent SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:106810420A>G ENST00000526355.1 - 4 1440 c.972T>C c.(970-972)tgT>tgC p.C324C GUCY1A2_ENST00000282249.2_Silent_p.C324C|GUCY1A2_ENST00000347596.2_Silent_p.C324C NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 324 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GGAAGGCTCTACAGAAGGTGT 0.458000 9 25 0 0 0.006214 0 0 ACD 65057 broad.mit.edu 37 16 67693460 67693460 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr16:67693460G>A ENST00000219251.8 - 4 973 c.642C>T c.(640-642)ccC>ccT p.P214P ACD_ENST00000393919.4_Silent_p.P217P NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 217 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CCCGTAGCCGGGGCTGCTCCG 0.677000 4 48 0 0 0.009096 0 0 SMC1B 27127 broad.mit.edu 37 22 45782901 45782901 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr22:45782901C>T ENST00000357450.4 - 11 1756 c.1757G>A c.(1756-1758)aGg>aAg p.R586K SMC1B_ENST00000404354.3_Missense_Mutation_p.R586K NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 586 Flexible hinge. chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) TTTAAGCTCCCTTAGTCTTTC 0.328000 34 93 0 0 0.003755 0 0 MUC16 94025 broad.mit.edu 37 19 9066782 9066782 + Silent SNP C C A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:9066782C>A ENST00000397910.4 - 3 20867 c.20664G>T c.(20662-20664)gcG>gcT p.A6888A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6890 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CCACATTAGTCGCTGCTGTGC 0.483000 37 177 6.53348e-20 7.44388e-20 0.003755 1 0 PREX1 57580 broad.mit.edu 37 20 47296246 47296246 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr20:47296246G>A ENST00000396220.1 - 12 1504 c.1482C>T c.(1480-1482)ttC>ttT p.F494F PREX1_ENST00000371941.3_Silent_p.F494F Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 494 DEP 1. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CGTCGTAGCGGAAGCGATACA 0.612000 16 95 0 0 0.006122 0 0 SP140L 93349 broad.mit.edu 37 2 231264899 231264899 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:231264899G>A ENST00000243810.6 + 15 1255 c.1255G>A c.(1255-1257)Gac>Aac p.D419N SP140L_ENST00000444636.1_Missense_Mutation_p.D419N|SP140L_ENST00000415673.2_Missense_Mutation_p.D419N|SP140L_ENST00000396563.4_Missense_Mutation_p.D384N Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 419 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GTTCTGTTGCGACACTTGTTC 0.498000 21 79 0 0 0.012319 0 0 MKL1 57591 broad.mit.edu 37 22 40825661 40825661 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr22:40825661C>T ENST00000396617.3 - 7 840 c.250G>A c.(250-252)Gtg>Atg p.V84M MKL1_ENST00000402630.1_Missense_Mutation_p.V84M|MKL1_ENST00000402042.1_Missense_Mutation_p.V84M|MKL1_ENST00000407029.1_Missense_Mutation_p.V84M|MKL1_ENST00000355630.3_Missense_Mutation_p.V84M Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 84 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 TTCTTCTCCACCAGCTCCATG 0.572000 T RBM15 acute megakaryocytic leukemia 6 68 0 0 0.001168 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75376271 75376271 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr14:75376271G>A ENST00000555647.1 - 8 1532 c.1245C>T c.(1243-1245)ccC>ccT p.P415P RPS6KL1_ENST00000557413.1_Silent_p.P415P|RPS6KL1_ENST00000354625.2_Silent_p.P384P|RPS6KL1_ENST00000358328.4_Silent_p.P415P Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 415 Protein kinase. ribosome ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(234;0.00658) GCAGGTTCCCGGGGTGGAGGT 0.672000 12 45 0 0 0.002450 0 0 ASXL3 80816 broad.mit.edu 37 18 31319491 31319491 + Missense_Mutation SNP C C G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr18:31319491C>G ENST00000269197.5 + 11 2123 c.2123C>G c.(2122-2124)tCc>tGc p.S708C NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 708 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 TCACCAGTATCCAACTTACCT 0.393000 37 204 0 0 0.004289 0 0 PREX2 80243 broad.mit.edu 37 8 69031723 69031723 + Missense_Mutation SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr8:69031723A>G ENST00000288368.4 + 28 3755 c.3478A>G c.(3478-3480)Agt>Ggt p.S1160G NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1160 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAAGATACATAGTTGCCTTGA 0.388000 48 55 0 0 0.014410 0 0 MVP 9961 broad.mit.edu 37 16 29848052 29848052 + Missense_Mutation SNP C C T rs150165807 TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr16:29848052C>T ENST00000357402.5 + 7 820 c.682C>T c.(682-684)Cac>Tac p.H228Y MVP_ENST00000452209.2_Missense_Mutation_p.A42V|MVP_ENST00000395353.1_Missense_Mutation_p.H228Y NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 228 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GACAGCCCTGCACCTCCGGGC 0.622000 4 46 0 0 0.009096 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378185 55378185 + Nonstop_Mutation SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:55378185A>G ENST00000326321.3 + 9 1400 c.1367A>G c.(1366-1368)tAg>tGg p.*456W KIR3DL1_ENST00000402254.2_Nonstop_Mutation_p.*456W|KIR3DL2_ENST00000270442.5_Nonstop_Mutation_p.*439W NM_006737.3 NP_006728.2 P43630 KI3L2_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2 0 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) GGGGTTTTCTAGGGAGACAAC 0.527000 3 180 0 0 0.009096 0 0 MAGED1 9500 broad.mit.edu 37 X 51640125 51640125 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chrX:51640125G>A ENST00000375695.2 + 5 1695 c.1542G>A c.(1540-1542)caG>caA p.Q514Q MAGED1_ENST00000375722.1_Silent_p.Q458Q|MAGED1_ENST00000326587.7_Silent_p.Q458Q|MAGED1_ENST00000375772.3_Silent_p.Q458Q|MAGED1_ENST00000494718.1_3'UTR NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 458 MAGE. apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GTGCCTCACAGAACCCAGGTG 0.577000 Multiple Myeloma(10;0.10) 4 19 0 0 0.009096 0 0 TMEM115 11070 broad.mit.edu 37 3 50392907 50392907 + Missense_Mutation SNP T T C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr3:50392907T>C ENST00000266025.3 - 2 1469 c.923A>G c.(922-924)gAt>gGt p.D308G XXcos-LUCA11.5_ENST00000606589.1_Intron NM_007024.4 NP_008955.1 Q12893 TM115_HUMAN transmembrane protein 115 308 negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus breast(2)|endometrium(1)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) TTCATCATCATCCATGCTGGG 0.607000 9 36 0 0 0.004482 0 0 SYBU 55638 broad.mit.edu 37 8 110587403 110587403 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr8:110587403C>T ENST00000399066.3 - 6 2442 c.1715G>A c.(1714-1716)aGa>aAa p.R572K SYBU_ENST00000424158.2_Missense_Mutation_p.R580K|SYBU_ENST00000446070.2_Missense_Mutation_p.R574K|SYBU_ENST00000276646.9_Missense_Mutation_p.R575K|SYBU_ENST00000528647.1_Missense_Mutation_p.R574K|SYBU_ENST00000419099.1_Missense_Mutation_p.R574K|SYBU_ENST00000533895.1_Missense_Mutation_p.R574K|SYBU_ENST00000529175.1_Missense_Mutation_p.R369K|SYBU_ENST00000533171.1_Missense_Mutation_p.R575K|SYBU_ENST00000532779.1_Missense_Mutation_p.R507K|SYBU_ENST00000433638.1_Missense_Mutation_p.R575K|SYBU_ENST00000408908.2_Missense_Mutation_p.R575K|SYBU_ENST00000422135.1_Missense_Mutation_p.R575K|SYBU_ENST00000440310.1_Missense_Mutation_p.R575K|SYBU_ENST00000528331.1_Missense_Mutation_p.R456K|SYBU_ENST00000529690.1_Missense_Mutation_p.R445K|SYBU_ENST00000533065.1_Missense_Mutation_p.R456K|SYBU_ENST00000408889.3_Missense_Mutation_p.R456K NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 575 cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 ATCCAGCTCTCTCATGAGGCG 0.552000 6 83 0 0 0.001984 0 0 METTL2A 339175 broad.mit.edu 37 17 60501347 60501347 + Silent SNP G G T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr17:60501347G>T ENST00000311506.5 + 1 120 c.84G>T c.(82-84)ccG>ccT p.P28P NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 28 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) TGAGAGATCCGGCGCGCGTCT 0.647000 OREG0024635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 45 0.000157383 0.000169584 0.003080 1 0 NAGS 162417 broad.mit.edu 37 17 42083545 42083545 + Silent SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr17:42083545G>A ENST00000293404.3 + 3 973 c.855G>A c.(853-855)ctG>ctA p.L285L NM_153006.2 NP_694551.1 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 285 arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) CCAAGGCGCTGCGGCCCACCA 0.667000 11 38 0 0 0.001855 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6058428 6058428 + Missense_Mutation SNP T T C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr4:6058428T>C ENST00000409021.3 - 12 2152 c.1703A>G c.(1702-1704)gAa>gGa p.E568G JAKMIP1_ENST00000410077.2_Missense_Mutation_p.E403G|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.E568G|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.E383G|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.E568G NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 568 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ACGCACCTTTTCCAGCAAGTC 0.542000 18 72 0 0 0.014323 0 0 POLR1B 84172 broad.mit.edu 37 2 113331325 113331325 + Nonsense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:113331325C>T ENST00000263331.5 + 14 3038 c.2458C>T c.(2458-2460)Cag>Tag p.Q820* POLR1B_ENST00000541869.1_Nonsense_Mutation_p.Q858*|POLR1B_ENST00000537335.1_Nonsense_Mutation_p.Q609*|POLR1B_ENST00000409894.3_Nonsense_Mutation_p.Q637*|POLR1B_ENST00000417433.2_Nonsense_Mutation_p.Q764* NM_019014.4 NP_061887.2 Q9H9Y6 RPA2_HUMAN polymerase (RNA) I polypeptide B, 128kDa 820 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 AGCAAAACTGCAGTACGGAGA 0.448000 19 105 0 0 0.008871 0 0 LILRA4 23547 broad.mit.edu 37 19 54848799 54848799 + Missense_Mutation SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:54848799A>G ENST00000291759.4 - 5 880 c.824T>C c.(823-825)cTc>cCc p.L275P NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 275 Ig-like C2-type 3. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GGCCTGGGAGAGCCCAGCCTG 0.667000 3 57 0 0 0.004672 0 0 WDR7 23335 broad.mit.edu 37 18 54591315 54591315 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr18:54591315C>T ENST00000254442.3 + 22 3900 c.3689C>T c.(3688-3690)gCc>gTc p.A1230V WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1230 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) GAACTTTGTGCCGATGCCGAG 0.438000 4 135 0 0 0.009096 0 0 ZNF10 7556 broad.mit.edu 37 12 133732617 133732617 + Missense_Mutation SNP A A T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr12:133732617A>T ENST00000248211.6 + 5 1007 c.785A>T c.(784-786)gAg>gTg p.E262V ZNF268_ENST00000416488.1_Intron|ZNF10_ENST00000402932.2_Intron|ZNF10_ENST00000426665.2_Missense_Mutation_p.E262V|CTD-2140B24.4_ENST00000540096.2_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 262 Missing (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1) 26 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) ATACATAGAGAGAAACCCTAT 0.398000 5 49 0 0 0.000602 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273547 26273547 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr6:26273547G>A ENST00000377733.2 + 1 404 c.344G>A c.(343-345)gGc>gAc p.G115D NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 115 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1) 16 GTGTCGGAGGGCACCAAGGCG 0.567000 15 55 0 0 0.002450 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963951 88963951 + Missense_Mutation SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr7:88963951A>G ENST00000333190.4 + 4 2264 c.1655A>G c.(1654-1656)tAt>tGt p.Y552C NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 552 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CAGAGGAAATATAATTTGGAC 0.343000 HNSCC(36;0.09) 4 40 0 0 0.000602 0 0 SRCAP 10847 broad.mit.edu 37 16 30750152 30750152 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr16:30750152C>T ENST00000262518.4 + 34 9176 c.8791C>T c.(8791-8793)Ctg>Ttg p.L2931L SRCAP_ENST00000344771.4_Silent_p.L2773L|SRCAP_ENST00000395059.2_Silent_p.L2869L NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2931 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) CAATCCCCTCCTGTCACCTGT 0.572000 12 79 0 0 0.002450 0 0 KLHL30 377007 broad.mit.edu 37 2 239049729 239049729 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:239049729C>T ENST00000409223.1 + 2 441 c.334C>T c.(334-336)Cgc>Tgc p.R112C KLHL30_ENST00000305959.4_Missense_Mutation_p.R94C Q0D2K2 KLH30_HUMAN kelch-like family member 30 112 lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CACGGCTGCGCGCCTGCACTT 0.667000 18 81 0 0 0.004990 0 0 LCNL1 401562 broad.mit.edu 37 9 139879239 139879239 + Missense_Mutation SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr9:139879239A>G ENST00000408973.2 + 3 865 c.271A>G c.(271-273)Aaa>Gaa p.K91E LCNL1_ENST00000432827.1_Intron NM_207510.3 NP_997393.3 Q6ZST4 LCNL1_HUMAN lipocalin-like 1 91 binding GGAGATGCGGAAAGGGGGCCT 0.662000 7 9 0 0 0.001984 0 0 C2orf83 56918 broad.mit.edu 37 2 228476326 228476326 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:228476326C>T ENST00000264387.4 - 3 323 c.237G>A c.(235-237)agG>agA p.R79R C2orf83_ENST00000409066.1_3'UTR NM_020161.3 NP_064546.3 Q53S99 CB083_HUMAN chromosome 2 open reading frame 83 79 membrane folic acid binding|reduced folate carrier activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2) 11 CGGTAAGTTTCCTCATCCCTG 0.468000 18 65 0 0 0.006122 0 0 EPHA3 2042 broad.mit.edu 37 3 89478308 89478308 + Silent SNP T T C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr3:89478308T>C ENST00000336596.2 + 12 2352 c.2127T>C c.(2125-2127)agT>agC p.S709S EPHA3_ENST00000494014.1_Silent_p.S709S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 709 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CCTTGGATAGTTTCCTACGTG 0.323000 TSP Lung(6;0.00050) 12 34 0 0 0.004990 0 0 POMP 51371 broad.mit.edu 37 13 29252224 29252224 + Silent SNP A A G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr13:29252224A>G ENST00000380842.4 + 6 492 c.411A>G c.(409-411)aaA>aaG p.K137K POMP_ENST00000460403.1_3'UTR NM_015932.5 NP_057016.1 Q9Y244 POMP_HUMAN proteasome maturation protein 137 proteasome assembly cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex endometrium(2)|kidney(1)|large_intestine(1) 4 Lung SC(185;0.0367) all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216) TGGAATATAAACTTGGTTTAC 0.358000 11 40 0 0 0.008291 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986053 11986053 + RNA SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr8:11986053G>A ENST00000434078.2 + 0 608 NR_027425.1 CACAATGATAGGCATTCTCTC 0.507000 4 46 0 0 0.000602 0 0 TMEM145 284339 broad.mit.edu 37 19 42818774 42818774 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:42818774G>A ENST00000598766.1 + 4 313 c.313G>A c.(313-315)Gcc>Acc p.A105T TMEM145_ENST00000301204.3_Missense_Mutation_p.A95T|TMEM145_ENST00000601020.1_3'UTR Q8NBT3 TM145_HUMAN transmembrane protein 145 95 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) GGACTGCCTGGCCAAGGAGTC 0.642000 14 131 0 0 0.001855 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508732 106508732 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr7:106508732C>T ENST00000359195.3 + 2 1036 c.726C>T c.(724-726)ggC>ggT p.G242G PIK3CG_ENST00000496166.1_Silent_p.G242G|PIK3CG_ENST00000440650.2_Silent_p.G242G NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 242 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACACCCCCGGCGCCATCCTGC 0.527000 18 98 0 0 0.006122 0 0 USP20 10868 broad.mit.edu 37 9 132637882 132637882 + Silent SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr9:132637882C>T ENST00000315480.4 + 21 2420 c.2262C>T c.(2260-2262)gtC>gtT p.V754V USP20_ENST00000358355.1_Silent_p.V754V|USP20_ENST00000372429.3_Silent_p.V754V Q9Y2K6 UBP20_HUMAN ubiquitin specific peptidase 20 754 DUSP 1. endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1) 11 Ovarian(14;0.00556) ACCTGGTGGTCATCCTGCCCC 0.622000 26 61 0 0 0.006320 0 0 CNTROB 116840 broad.mit.edu 37 17 7842957 7842957 + Missense_Mutation SNP C C T rs141146363 TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr17:7842957C>T ENST00000380262.3 + 8 1979 c.1054C>T c.(1054-1056)Cgg>Tgg p.R352W CNTROB_ENST00000565740.1_Missense_Mutation_p.R352W|CNTROB_ENST00000563694.1_Missense_Mutation_p.R352W|CNTROB_ENST00000380255.3_Missense_Mutation_p.R352W NM_001037144.5 NP_001032221.1 Q8N137 CNTRB_HUMAN centrobin, centrosomal BRCA2 interacting protein 352 centriole replication|centrosome separation|cytokinesis centriole protein domain specific binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9) 25 Prostate(122;0.173) GGAGACTCTTCGGGCTGCCCT 0.612000 18 62 0 0 0.004990 0 0 IKBKE 9641 broad.mit.edu 37 1 206649530 206649530 + Missense_Mutation SNP G G A TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr1:206649530G>A ENST00000367120.3 + 6 738 c.365G>A c.(364-366)gGc>gAc p.G122D IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.G37D NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 122 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding p.G122D(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) CCAGTGGCCGGCATGAACCAC 0.617000 3 39 0 0 0.004672 0 0 OPCML 4978 broad.mit.edu 37 11 132527154 132527154 + Silent SNP G G A rs142071206 byFrequency TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:132527154G>A ENST00000331898.7 - 2 806 c.228C>T c.(226-228)taC>taT p.Y76Y OPCML_ENST00000541867.1_Silent_p.Y76Y|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.Y69Y|OPCML_ENST00000374778.4_Silent_p.Y35Y NM_002545.3 NP_002536.1 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion molecule-like 76 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8) 47 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) CATTCCCAGCGTAGAGGATGG 0.542000 12 71 0 0 0.001855 0 0 ZNF471 57573 broad.mit.edu 37 19 57037304 57037304 + Missense_Mutation SNP G G C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr19:57037304G>C ENST00000308031.5 + 5 2001 c.1868G>C c.(1867-1869)gGa>gCa p.G623A ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 623 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AGTCATACTGGAGAAGAACCT 0.403000 9 45 0 0 0.008291 0 0 ZNF789 285989 broad.mit.edu 37 7 99074083 99074083 + Missense_Mutation SNP T T G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr7:99074083T>G ENST00000331410.5 + 2 274 c.4T>G c.(4-6)Ttc>Gtc p.F2V ZNF789_ENST00000379724.3_Missense_Mutation_p.F2V|ZNF789_ENST00000493485.1_5'UTR|ZNF789_ENST00000448667.1_5'UTR|ZNF789_ENST00000483089.1_5'UTR NM_213603.2 NP_998768.2 Q5FWF6 ZN789_HUMAN zinc finger protein 789 2 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1) 11 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGAAGCCATGTTCCCACCAGC 0.562000 7 52 0 0 0.003080 0 0 MDGA2 161357 broad.mit.edu 37 14 47351384 47351384 + Missense_Mutation SNP T T C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr14:47351384T>C ENST00000426342.1 - 11 2131 c.1385A>G c.(1384-1386)aAt>aGt p.N462S MDGA2_ENST00000439988.2_Missense_Mutation_p.N691S|MDGA2_ENST00000399232.2_Missense_Mutation_p.N760S|MDGA2_ENST00000357362.3_Missense_Mutation_p.N462S|MDGA2_ENST00000399222.3_5'UTR NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 691 Ig-like 5. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 AATATTCCCATTTATTTTAAT 0.373000 3 23 0 0 0.004672 0 0 TRPC6 7225 broad.mit.edu 37 11 101323814 101323814 + Missense_Mutation SNP C C G TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:101323814C>G ENST00000344327.3 - 13 3092 c.2668G>C c.(2668-2670)Gac>Cac p.D890H TRPC6_ENST00000360497.4_Missense_Mutation_p.D835H|TRPC6_ENST00000348423.4_Missense_Mutation_p.D774H|TRPC6_ENST00000532133.1_Missense_Mutation_p.D812H NM_004621.5 NP_004612.2 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, subfamily C, member 6 890 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) CTTGAGATGTCCTGCTTAATT 0.398000 8 61 0 0 0.004482 0 0 PEX11A 8800 broad.mit.edu 37 15 90226612 90226612 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr15:90226612C>T ENST00000300056.3 - 3 889 c.740G>A c.(739-741)cGt>cAt p.R247H PEX11A_ENST00000561257.1_Missense_Mutation_p.R216H|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR NM_001271573.1 NP_001258502.1 O75192 PX11A_HUMAN peroxisomal biogenesis factor 11 alpha 247 cellular lipid metabolic process|peroxisome fission|signal transduction integral to peroxisomal membrane endometrium(2)|large_intestine(2)|lung(3) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) AACACCCTAACGGGTCTTCAG 0.443000 62 207 0 0 0.014410 0 0 MYBPC1 4604 broad.mit.edu 37 12 102028349 102028349 + Missense_Mutation SNP C C T TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr12:102028349C>T ENST00000549145.1 + 8 638 c.538C>T c.(538-540)Cca>Tca p.P180S MYBPC1_ENST00000547509.1_Missense_Mutation_p.P153S|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P155S|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P154S|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P192S|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P141S|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P192S|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P167S|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P167S|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P68S|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P167S Q00872 MYPC1_HUMAN myosin binding protein C, slow type 167 cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TGGGACTACTCCAAACATTGA 0.358000 4 46 0 0 0.009096 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89083945 89083946 + RNA INS - - GC TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr2:89083945_89083946insGC ENST00000393525.3 + 0 576 GTATTCCTTTTTTTTCAGTGTA 0.347 4 6 --- --- --- --- POU4F2 5458 broad.mit.edu 37 4 147560457 147560458 + In_Frame_Ins INS - - GGC rs67907220 TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr4:147560457_147560458insGGC ENST00000281321.3 + 1 413_414 c.165_166insGGC c.(163-168)gggcgg>ggGGCgcgg p.55_56GR>GAR AC093887.1_ENST00000584185.1_RNA NM_004575.2 NP_004566.2 Q12837 PO4F2_HUMAN POU class 4 homeobox 2 55 Poly-Gly. estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter nuclear speck RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) ACGCTggtggtggcggcggcgg 0.762 8 16 --- --- --- --- FRG2B 441581 broad.mit.edu 37 10 135438960 135438960 + Frame_Shift_Del DEL C C - TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr10:135438960delC ENST00000443774.1 - 4 532 c.483delG c.(481-483)agfs p.R161fs FRG2B_ENST00000425520.1_Frame_Shift_Del_p.R160fs Q96QU4 FRG2B_HUMAN FSHD region gene 2 family, member B 160 nucleus endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1) 20 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) GGGCCCGAGACCTATGCCGCT 0.557 7 250 --- --- --- --- ACTN3 89 broad.mit.edu 37 11 66325699 66325699 + RNA DEL T T - TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr11:66325699delT ENST00000513398.1 + 0 1373 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 GAGATTGGTGTGCAGGGGCAG 0.587 7 46 --- --- --- --- GOLGA2P5 55592 broad.mit.edu 37 12 100564316 100564316 + RNA DEL G G - TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr12:100564316delG ENST00000397112.4 - 0 599 NR_036632.1 large_intestine(1)|lung(3) 4 CAGGCTGCCAGGGGATGGGGC 0.587 2 4 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518337 108518338 + Frame_Shift_Ins INS - - C TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr13:108518337_108518338insC ENST00000375915.2 - 1 745_746 c.607_608insG c.(607-609)cggfs p.R203fs NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 203 integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 CTCCTGCCCGTCCCCCCCGGCC 0.609 26 143 --- --- --- --- ATP6V0D1 9114 broad.mit.edu 37 16 67472541 67472543 + In_Frame_Del DEL AGA AGA - TCGA-CR-7401-01A-11D-2012-08 TCGA-CR-7401-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx f8d6968c-2648-4dcf-a0da-77e46878581c 53ddf2bb-b744-450f-8c57-0ec68c17fc4e g.chr16:67472541_67472543delAGA ENST00000290949.3 - 8 1094_1096 c.944_946delTCT c.(943-948)tat>t p.FY315del ATP6V0D1_ENST00000540149.1_In_Frame_Del_p.FY356del|ATP6V0D1_ENST00000602876.1_In_Frame_Del_p.FY238del|ATP6V0D1_ENST00000567694.1_5'UTR NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 315 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) ACGAAGGCATAGAAGACACCAAA 0.552 13 105 --- --- --- ---