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 HSPA6 3310 broad.mit.edu 37 1 161495032 161495032 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:161495032G>A ENST00000309758.4 + 1 997 c.584G>A c.(583-585)cGc>cAc p.R195H NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 195 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) GCGGGAGAGCGCAACGTGCTC 0.627000 15 55 0 0 1 0 0 CPT2 1376 broad.mit.edu 37 1 53676457 53676457 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:53676457G>A ENST00000371486.3 + 4 1626 c.1111G>A c.(1111-1113)Gag>Aag p.E371K RP5-1024G6.2_ENST00000452466.1_RNA NM_000098.2 NP_000089.1 P23786 CPT2_HUMAN carnitine palmitoyltransferase 2 371 carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation mitochondrial inner membrane carnitine O-palmitoyltransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 15 L-Carnitine(DB00583)|Perhexiline(DB01074) CGTCCACTTTGAGCACTCTTG 0.498000 14 27 0 0 1 0 0 TMOD1 7111 broad.mit.edu 37 9 100308588 100308588 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:100308588G>A ENST00000395211.2 + 3 378 c.242G>A c.(241-243)cGa>cAa p.R81Q TMOD1_ENST00000259365.3_Missense_Mutation_p.R81Q NM_001166116.1 NP_001159588.1 P28289 TMOD1_HUMAN tropomodulin 1 81 Tropomyosin-binding (Potential). muscle filament sliding cytosol actin binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1) 11 Acute lymphoblastic leukemia(62;0.154) STAD - Stomach adenocarcinoma(157;0.105) TTTAAGGACCGAGAAGATCTG 0.502000 11 126 0 0 1 0 0 SOWAHB 345079 broad.mit.edu 37 4 77817474 77817474 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr4:77817474G>A ENST00000334306.2 - 1 1528 c.1529C>T c.(1528-1530)tCt>tTt p.S510F NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 510 CTCCTCATCAGAGGAGGACAA 0.592000 23 39 0 0 1 0 0 B4GALT3 8703 broad.mit.edu 37 1 161142103 161142103 + Missense_Mutation SNP C C A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:161142103C>A ENST00000319769.5 - 7 1044 c.822G>T c.(820-822)atG>atT p.M274I PPOX_ENST00000432542.2_Intron|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'UTR|B4GALT3_ENST00000367998.1_Missense_Mutation_p.M274I|PPOX_ENST00000535223.1_Intron NM_001199873.1|NM_003779.3 NP_001186802.1|NP_003770.1 O60512 B4GT3_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 274 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity cervix(1)|endometrium(5)|large_intestine(6)|lung(6) 18 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) N-Acetyl-D-glucosamine(DB00141) GAGAGATCTTCATCCCAGCCA 0.488000 14 33 7.93312e-07 8.0821e-07 1 1 0 CCDC129 223075 broad.mit.edu 37 7 31682734 31682734 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr7:31682734G>C ENST00000319386.3 + 11 2299 c.1306G>C c.(1306-1308)Gag>Cag p.E436Q CCDC129_ENST00000407970.3_Missense_Mutation_p.E584Q|CCDC129_ENST00000409210.1_Missense_Mutation_p.E492Q|CCDC129_ENST00000451887.2_Missense_Mutation_p.E610Q Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 584 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 TGTGAGGCCTGAGGGAGCTGG 0.493000 7 166 0 0 1 0 0 ZNF273 10793 broad.mit.edu 37 7 64389280 64389280 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr7:64389280G>A ENST00000476120.1 + 4 1645 c.1574G>A c.(1573-1575)cGg>cAg p.R525Q ZNF273_ENST00000319636.5_Missense_Mutation_p.R460Q|ZNF273_ENST00000527278.1_3'UTR NM_021148.2 NP_066971.2 Q14593 ZN273_HUMAN zinc finger protein 273 525 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(55;0.0295)|all_lung(88;0.0691) GCTTTTAACCGGTCCTCAAAC 0.388000 4 91 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31227742 31227742 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chrX:31227742C>T ENST00000357033.4 - 65 9642 c.9436G>A c.(9436-9438)Gat>Aat p.D3146N DMD_ENST00000378723.3_Missense_Mutation_p.D78N|DMD_ENST00000378677.2_Missense_Mutation_p.D3142N|DMD_ENST00000541735.1_Missense_Mutation_p.D686N|DMD_ENST00000361471.4_Missense_Mutation_p.D78N|DMD_ENST00000474231.1_Missense_Mutation_p.D686N|DMD_ENST00000378702.4_Missense_Mutation_p.D78N|DMD_ENST00000359836.1_Missense_Mutation_p.D686N|DMD_ENST00000378707.3_Missense_Mutation_p.D686N|DMD_ENST00000378680.2_Missense_Mutation_p.D78N|DMD_ENST00000343523.2_Missense_Mutation_p.D686N NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3146 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGCAGGATATCCATGGGCTGG 0.443000 20 41 0 0 1 0 0 OR10A5 144124 broad.mit.edu 37 11 6867629 6867629 + Missense_Mutation SNP T T C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:6867629T>C ENST00000299454.4 + 1 747 c.716T>C c.(715-717)tTc>tCc p.F239S OR10A5_ENST00000379831.2_Missense_Mutation_p.F243S Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CATAAAGCCTTCTCTACGTGC 0.458000 8 172 0 0 1 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42139713 42139713 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:42139713C>T ENST00000382448.4 + 24 2828 c.2819C>T c.(2818-2820)tCg>tTg p.S940L JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.S709L|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.S709L NM_005090.3 NP_005081.1 P0C869 PA24B_HUMAN 709 arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 CGGGAGTACTCGGCCCCTGGT 0.667000 29 84 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17722964 17722964 + Missense_Mutation SNP G G T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:17722964G>T ENST00000355815.4 - 4 858 c.689C>A c.(688-690)tCc>tAc p.S230Y SREBF1_ENST00000338854.5_Missense_Mutation_p.S200Y|SREBF1_ENST00000435530.2_Missense_Mutation_p.S200Y|SREBF1_ENST00000395757.1_5'UTR|SREBF1_ENST00000583732.1_Intron|SREBF1_ENST00000261646.5_Missense_Mutation_p.S200Y NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 200 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 GGTGTGCAAGGAGACGGGCGG 0.662000 8 26 0.000274275 0.000274275 1 1 0 PCDHB8 56128 broad.mit.edu 37 5 140558805 140558805 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:140558805C>T ENST00000239444.2 + 1 1435 c.1190C>T c.(1189-1191)tCt>tTt p.S397F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 397 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTGAAATCTTCTGTGGGGAAC 0.463000 6 145 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24832954 24832954 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr10:24832954C>T ENST00000376451.2 + 14 4064 c.3804C>T c.(3802-3804)ctC>ctT p.L1268L KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Silent_p.L1585L|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron Q5T5P2 SKT_HUMAN KIAA1217 1585 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 TCGCCGCTCTCACTCAAGCCA 0.468000 59 87 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 9009317 9009317 + Missense_Mutation SNP G G T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:9009317G>T ENST00000344836.4 - 9 1170 c.972C>A c.(970-972)ttC>ttA p.F324L USP7_ENST00000381886.4_Missense_Mutation_p.F308L|USP7_ENST00000535863.1_Missense_Mutation_p.F225L NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 324 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TTTTGCCGCGGAATAATTTGG 0.338000 14 35 6.72482e-11 7.0158e-11 1 1 0 MAST2 23139 broad.mit.edu 37 1 46496348 46496348 + Silent SNP C C T rs12757963 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:46496348C>T ENST00000361297.2 + 22 2906 c.2623C>T c.(2623-2625)Ctg>Ttg p.L875L MAST2_ENST00000372008.1_Silent_p.L760L|MAST2_ENST00000372009.2_Silent_p.L805L NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 875 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CAAGCGCAGCCTGAGTGAGGA 0.647000 5 12 0 0 1 0 0 NUCB1 4924 broad.mit.edu 37 19 49404064 49404064 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:49404064C>T ENST00000405315.4 + 2 345 c.11C>T c.(10-12)tCt>tTt p.S4F NUCB1_ENST00000263273.5_Missense_Mutation_p.S4F|NUCB1_ENST00000407032.1_Missense_Mutation_p.S4F|NUCB1_ENST00000485798.1_Intron NM_006184.5 NP_006175.2 Q02818 NUCB1_HUMAN nucleobindin 1 4 ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton calcium ion binding|DNA binding cervix(1)|endometrium(4)|large_intestine(4)|lung(8) 17 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244) ATGCCTCCCTCTGGGCCCCGA 0.652000 6 65 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 130987593 130987593 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:130987593C>T ENST00000307968.7 - 15 3123 c.3124G>A c.(3124-3126)Gat>Aat p.D1042N FNIP1_ENST00000510461.1_Missense_Mutation_p.D1070N|FNIP1_ENST00000307954.8_Missense_Mutation_p.D1025N|FNIP1_ENST00000514667.1_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) AATTTATTATCTGTCACTCGT 0.398000 12 27 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64812754 64812754 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:64812754C>T ENST00000358658.3 - 18 2239 c.2212G>A c.(2212-2214)Gct>Act p.A738T NAALADL1_ENST00000355369.2_3'UTR|NAALADL1_ENST00000355721.3_Missense_Mutation_p.A697T|NAALADL1_ENST00000340252.4_Missense_Mutation_p.A789T|NAALADL1_ENST00000339885.2_3'UTR|NAALADL1_ENST00000356632.3_Missense_Mutation_p.A703T|NAALADL1_ENST00000526799.1_Missense_Mutation_p.A85T NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 738 proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 CAGAGGTCAGCCACAGGCCTC 0.597000 5 16 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004819 75004819 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chrX:75004819C>G ENST00000373359.2 - 1 260 c.68G>C c.(67-69)aGa>aCa p.R23T NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 23 autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TATTTCACCTCTGCCGTCGCC 0.577000 18 35 0 0 1 0 0 MED14 9282 broad.mit.edu 37 X 40572268 40572268 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chrX:40572268C>T ENST00000324817.1 - 6 797 c.679G>A c.(679-681)Gaa>Aaa p.E227K NM_004229.3 NP_004220.2 O60244 MED14_HUMAN mediator complex subunit 14 227 Interaction with STAT2. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 AATTCTCCTTCAACACGAAAC 0.413000 19 36 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 5 41 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121380 38121380 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr22:38121380C>T ENST00000406386.3 + 7 3072 c.2817C>T c.(2815-2817)ctC>ctT p.L939L RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 939 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CCATCGCCCTCCGGCCAACCC 0.637000 52 150 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128324312 128324312 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:128324312G>A ENST00000262462.4 + 3 1715 c.705G>A c.(703-705)gtG>gtA p.V235V SLC27A6_ENST00000395266.1_Silent_p.V235V|SLC27A6_ENST00000506176.1_Silent_p.V235V Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 235 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AAGCAGCTGTGATTAGTCAGC 0.363000 29 55 0 0 1 0 0 TRAF2 7186 broad.mit.edu 37 9 139820216 139820216 + Nonsense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:139820216C>T ENST00000359662.3 + 11 1570 c.1525C>T c.(1525-1527)Cag>Tag p.Q509* TRAF2_ENST00000247668.2_Nonsense_Mutation_p.Q457*|TRAF2_ENST00000536468.1_Nonsense_Mutation_p.Q457* Q12933 TRAF2_HUMAN TNF receptor-associated factor 2 457 activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.229) OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06) ATCCTCTTTTCAGAGGCCAGT 0.572000 20 48 0 0 1 0 0 TRIM29 23650 broad.mit.edu 37 11 120008395 120008395 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:120008395C>T ENST00000341846.5 - 1 766 c.345G>A c.(343-345)aaG>aaA p.K115K NM_012101.3 NP_036233.2 Q14134 TRI29_HUMAN tripartite motif containing 29 115 transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 30 Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.37e-06) CGGGTGGCTTCTTGGCAGCCC 0.607000 24 267 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259877 40259877 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:40259877C>T ENST00000263791.5 + 9 1393 c.1350C>T c.(1348-1350)ctC>ctT p.L450L EIF2AK4_ENST00000559624.1_Silent_p.L450L|EIF2AK4_ENST00000382727.2_Silent_p.L450L NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 450 Protein kinase 1. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CTAAGCGCCTCGCAGACATTT 0.468000 4 70 0 0 1 0 0 GTF2E1 2960 broad.mit.edu 37 3 120469577 120469577 + Nonsense_Mutation SNP C C T rs139408677 byFrequency TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr3:120469577C>T ENST00000283875.5 + 2 271 c.178C>T c.(178-180)Cga>Tga p.R60* NM_005513.2 NP_005504.2 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, alpha 56kDa 60 HTH TFE/IIEalpha-type. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding p.R60*(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1) 22 GBM - Glioblastoma multiforme(114;0.159) GAAGCAACTTCGATCAGTTTT 0.448000 5 62 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115409891 115409891 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr10:115409891G>A ENST00000369358.4 - 9 1037 c.793C>T c.(793-795)Cat>Tat p.H265Y NRAP_ENST00000360478.3_Missense_Mutation_p.H265Y|NRAP_ENST00000359988.3_Missense_Mutation_p.H265Y|NRAP_ENST00000369360.3_Missense_Mutation_p.H265Y Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 265 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) TATTGTTGATGGTACCTCACC 0.443000 39 88 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106128284 106128284 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr10:106128284C>T ENST00000369704.3 + 6 1030 c.896C>T c.(895-897)tCc>tTc p.S299F CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 299 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GAGCAGCTATCCCAGGAAAAC 0.438000 23 39 0 0 1 0 0 PHF19 26147 broad.mit.edu 37 9 123631545 123631545 + Missense_Mutation SNP A A C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:123631545A>C ENST00000373896.3 - 6 781 c.529T>G c.(529-531)Tcc>Gcc p.S177A NM_015651.1 NP_056466.1 Q5T6S3 PHF19_HUMAN PHD finger protein 19 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GGCTGGTAGGACAGCACCATC 0.672000 8 12 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139734271 139734271 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:139734271C>T ENST00000371675.3 + 13 2424 c.1539C>T c.(1537-1539)ttC>ttT p.F513F RABL6_ENST00000371663.4_Silent_p.F629F|RABL6_ENST00000311502.7_Silent_p.F628F|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR RAB, member RAS oncogene family-like 6 CGGACCTCTTCGGGCTGGGGC 0.662000 8 40 0 0 1 0 0 NUP50 10762 broad.mit.edu 37 22 45574294 45574294 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr22:45574294G>A ENST00000347635.3 + 5 982 c.516G>A c.(514-516)gtG>gtA p.V172V NUP50_ENST00000486184.1_3'UTR|NUP50_ENST00000407019.2_Silent_p.V144V|NUP50_ENST00000396096.2_Silent_p.V144V|NUP50_ENST00000425733.2_5'UTR NM_007172.3 NP_009103.2 Q9UKX7 NUP50_HUMAN nucleoporin 50kDa 172 5 X 2 AA repeats of F-G.|Binding to CDKN1B (By similarity). carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore|nucleoplasm protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 9 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) ATTGGATAGTGAAGCACGTGA 0.483000 14 48 0 0 1 0 0 CYB5R4 51167 broad.mit.edu 37 6 84569524 84569524 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr6:84569524C>T ENST00000369681.4 + 1 163 c.23C>T c.(22-24)tCt>tTt p.S8F CYB5R4_ENST00000369679.4_5'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 8 cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) CCTTCCCAGTCTTTCCCGGCC 0.701000 OREG0017553 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 16 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47895328 47895328 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:47895328C>T ENST00000503935.2 + 9 1678 c.642C>T c.(640-642)ttC>ttT p.F214F KAT7_ENST00000510819.1_Silent_p.F201F|KAT7_ENST00000509773.1_Silent_p.F260F|KAT7_ENST00000454930.2_Silent_p.F231F|KAT7_ENST00000435742.2_Silent_p.F184F|KAT7_ENST00000424009.2_Silent_p.F340F|KAT7_ENST00000259021.4_Silent_p.F370F|KAT7_ENST00000513980.1_Intron O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 370 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TGTGTGAATTCTGTTTAAAAT 0.438000 17 32 0 0 1 0 0 RABL6 55684 broad.mit.edu 37 9 139734268 139734268 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:139734268C>T ENST00000371675.3 + 13 2421 c.1536C>T c.(1534-1536)ctC>ctT p.L512L RABL6_ENST00000371663.4_Silent_p.L628L|RABL6_ENST00000311502.7_Silent_p.L627L|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000432842.2_3'UTR RAB, member RAS oncogene family-like 6 ACTCGGACCTCTTCGGGCTGG 0.662000 8 40 0 0 1 0 0 BAMBI 25805 broad.mit.edu 37 10 28970441 28970441 + Missense_Mutation SNP G G A rs111458570 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr10:28970441G>A ENST00000375533.3 + 2 887 c.331G>A c.(331-333)Gat>Aat p.D111N NM_012342.2 NP_036474.1 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 111 cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 AGGGCTGCACGATGTTCTCTC 0.527000 33 59 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 3 32 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19501748 19501748 + Nonsense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:19501748C>T ENST00000396229.2 + 18 3354 c.2605C>T c.(2605-2607)Cga>Tga p.R869* TMC5_ENST00000564959.1_Nonsense_Mutation_p.R552*|TMC5_ENST00000561503.1_Nonsense_Mutation_p.R510*|TMC5_ENST00000542583.2_Nonsense_Mutation_p.R869*|TMC5_ENST00000541464.1_Nonsense_Mutation_p.R817*|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000219821.5_Nonsense_Mutation_p.R623* NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 869 integral to membrane p.R869*(2)|p.R623*(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGGCCCTTTTCGAGGTCTGCC 0.483000 6 151 0 0 1 0 0 RIBC1 158787 broad.mit.edu 37 X 53455326 53455326 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chrX:53455326C>T ENST00000457095.1 + 5 499 c.295C>T c.(295-297)Cgg>Tgg p.R99W RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Missense_Mutation_p.R99W NM_144968.2 NP_659405.1 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 99 lung(2) 2 CCAGGAGTTTCGGGAGCAGAA 0.512000 13 13 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559795 140559795 + Nonsense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:140559795C>G ENST00000239444.2 + 1 2425 c.2180C>G c.(2179-2181)tCa>tGa p.S727* NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 727 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCGCTGCTCAGTGCCTGAG 0.647000 9 191 0 0 1 0 0 CKLF 51192 broad.mit.edu 37 16 66599825 66599825 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:66599825G>A ENST00000264001.4 + 4 519 c.370G>A c.(370-372)Gac>Aac p.D124N CKLF_ENST00000362093.4_Missense_Mutation_p.D39N|CKLF_ENST00000351137.4_Missense_Mutation_p.D71N|CKLF_ENST00000345436.4_Missense_Mutation_p.D92N|CKLF_ENST00000563092.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000532838.1_Intron|CKLF_ENST00000417030.2_Intron NM_016951.3 NP_058647.1 chemokine-like factor endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1) 5 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217) CTGTCTTGCCGACGGGGCCCT 0.448000 9 56 0 0 1 0 0 ZNF397 84307 broad.mit.edu 37 18 32822651 32822651 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr18:32822651G>A ENST00000330501.7 + 2 370 c.217G>A c.(217-219)Gaa>Aaa p.E73K ZNF397_ENST00000592264.1_Missense_Mutation_p.E73K|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Missense_Mutation_p.E73K|ZNF397_ENST00000585800.1_Missense_Mutation_p.E73K|ZNF397_ENST00000355632.4_Missense_Mutation_p.E73K|ZNF397_ENST00000591206.1_Missense_Mutation_p.E73K NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 73 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1) 12 CCGACTCCAGGAACTTTGCTA 0.512000 17 63 0 0 1 0 0 RIPPLY1 92129 broad.mit.edu 37 X 106144027 106144027 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chrX:106144027G>A ENST00000276173.4 - 4 437 c.408C>T c.(406-408)agC>agT p.S136S CLDN2_ENST00000541806.1_Intron|RIPPLY1_ENST00000411805.1_Silent_p.S89S NM_138382.2 NP_612391.1 Q0D2K3 RIPP1_HUMAN ripply transcriptional repressor 1 136 negative regulation of transcription, DNA-dependent|somite rostral/caudal axis specification|somite specification|transcription, DNA-dependent nucleus lung(1)|urinary_tract(1) 2 cttcttcttcGCTGTCTGAGT 0.502000 9 24 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43526973 43526973 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:43526973C>T ENST00000220420.5 - 11 1876 c.1869G>A c.(1867-1869)acG>acA p.T623T TGM5_ENST00000349114.4_Silent_p.T541T NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 623 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) CTACATTAATCGTGATGCTTG 0.542000 4 66 0 0 1 0 0 ZNF561 93134 broad.mit.edu 37 19 9721241 9721241 + Nonsense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:9721241G>A ENST00000302851.3 - 6 1459 c.1096C>T c.(1096-1098)Cag>Tag p.Q366* ZNF561_ENST00000424629.1_Nonsense_Mutation_p.Q297*|ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Nonsense_Mutation_p.Q230* NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 366 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 TCCTTACACTGATAGGGTTTC 0.423000 33 69 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84438772 84438772 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:84438772G>A ENST00000416219.2 + 3 338 c.249G>A c.(247-249)acG>acA p.T83T ATP2C2_ENST00000262429.4_Silent_p.T83T O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 83 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 TCTCGGTGACGCAGCGCCGGC 0.562000 4 37 0 0 1 0 0 LOC101927648 101927648 broad.mit.edu 37 1 143403554 143403554 + RNA SNP T T G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:143403554T>G ENST00000423249.1 - 0 59 GGAACAGGATTTCTTTGGCCA 0.468000 3 9 0 0 1 0 0 TAPT1-AS1 202020 broad.mit.edu 37 4 16258189 16258189 + RNA SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr4:16258189C>T ENST00000570786.1 + 0 544 TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA NR_027696.1 TTCGAGGCTCCGCCTGCTGCC 0.592000 3 8 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 130987601 130987601 + Missense_Mutation SNP C C T rs138667282 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:130987601C>T ENST00000307968.7 - 15 3115 c.3116G>A c.(3115-3117)cGa>cAa p.R1039Q FNIP1_ENST00000510461.1_Missense_Mutation_p.R1067Q|FNIP1_ENST00000307954.8_Missense_Mutation_p.R1022Q|FNIP1_ENST00000514667.1_Intron NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) ATCTGTCACTCGTCTCTGGCT 0.403000 14 28 0 0 1 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166330 19166330 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:19166330G>A ENST00000375371.3 - 6 2304 c.2283C>T c.(2281-2283)ttC>ttT p.F761F NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 761 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) TGAGGGTGATGAACTTGGCCT 0.562000 10 30 0 0 1 0 0 TMEM117 84216 broad.mit.edu 37 12 44537383 44537383 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:44537383G>A ENST00000266534.3 + 4 593 c.466G>A c.(466-468)Gct>Act p.A156T TMEM117_ENST00000536799.1_Intron|TMEM117_ENST00000551577.1_Missense_Mutation_p.A156T NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 156 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) CATGAAATTAGCTGCAGTAGG 0.413000 16 60 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79366851 79366851 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr4:79366851C>G ENST00000264895.6 + 42 6281 c.5841C>G c.(5839-5841)atC>atG p.I1947M FRAS1_ENST00000325942.6_Missense_Mutation_p.I1947M NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1946 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TTCACAGCATCAATATCACCA 0.373000 11 201 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43896333 43896333 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:43896333C>T ENST00000450892.2 - 22 4313 c.4236G>A c.(4234-4236)gaG>gaA p.E1412E STRC_ENST00000541030.1_Silent_p.E639E NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1412 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCTCCAGGGTCTCTGGACCCA 0.562000 8 11 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144885676 144885676 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr8:144885676C>T ENST00000356994.2 - 24 3486 c.3480G>A c.(3478-3480)gtG>gtA p.V1160V SCRIB_ENST00000377533.3_Silent_p.V1079V|SCRIB_ENST00000320476.3_Silent_p.V1160V NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 1160 Interaction with ARHGEF7.|PDZ 4. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TCTGCTGGTTCACCTCCAACA 0.687000 13 13 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438434 204438434 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:204438434C>G ENST00000367187.3 - 3 1053 c.497G>C c.(496-498)tGg>tCg p.W166S PIK3C2B_ENST00000424712.2_Missense_Mutation_p.W166S NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 166 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) AGGGGTATCCCAGATAGAAGC 0.577000 9 157 0 0 1 0 0 TYK2 7297 broad.mit.edu 37 19 10476542 10476542 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:10476542C>T ENST00000525621.1 - 7 1143 c.662G>A c.(661-663)cGg>cAg p.R221Q TYK2_ENST00000529370.1_Missense_Mutation_p.R221Q|TYK2_ENST00000524462.1_Missense_Mutation_p.R36Q|TYK2_ENST00000264818.6_Missense_Mutation_p.R221Q NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 221 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCGGATATGCCGGCGGAAGGA 0.677000 6 17 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410646 103410646 + Silent SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr14:103410646G>C ENST00000361246.2 - 30 4278 c.3990C>G c.(3988-3990)ctC>ctG p.L1330L NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1330 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCGTGGCCATGAGCTGGCAGC 0.567000 15 23 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 5925255 5925255 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:5925255G>A ENST00000378156.4 - 27 3988 c.3723C>T c.(3721-3723)gtC>gtT p.V1241V NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 1241 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) GCTGGCCTGCGACGCAGGAGA 0.632000 10 14 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459829 148459829 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr3:148459829C>T ENST00000542281.1 + 4 1453 c.1007C>T c.(1006-1008)aCg>aTg p.T336M AGTR1_ENST00000418473.2_Missense_Mutation_p.T336M|AGTR1_ENST00000404754.2_Missense_Mutation_p.T336M|AGTR1_ENST00000497524.1_Missense_Mutation_p.T336M|AGTR1_ENST00000402260.1_Missense_Mutation_p.T336M|AGTR1_ENST00000461609.1_Missense_Mutation_p.T336M|AGTR1_ENST00000349243.3_Missense_Mutation_p.T336M|AGTR1_ENST00000475347.1_Missense_Mutation_p.T336M|AGTR1_ENST00000474935.1_Missense_Mutation_p.T336M NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 336 T -> P (in dbSNP:rs1801021). calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity p.T336>?(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AAAATGAGCACGCTTTCCTAC 0.408000 32 32 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2855702 2855702 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr8:2855702G>A ENST00000602557.1 - 55 8766 c.8211C>T c.(8209-8211)atC>atT p.I2737I CSMD1_ENST00000537824.1_Silent_p.I2736I|CSMD1_ENST00000520002.1_Silent_p.I2737I|CSMD1_ENST00000400186.3_Silent_p.I2679I|CSMD1_ENST00000542608.1_Silent_p.I2678I|CSMD1_ENST00000602723.1_Silent_p.I2679I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2737 Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GACCACATGTGATGGCTGTAG 0.453000 7 66 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38568201 38568201 + Missense_Mutation SNP C C G rs140969268 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr21:38568201C>G ENST00000399017.2 + 42 8190 c.5443C>G c.(5443-5445)Ctg>Gtg p.L1815V TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.L1815V|TTC3_ENST00000355666.1_Missense_Mutation_p.L1815V NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1815 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CCAGGCAGCTCTGTCAGAACG 0.597000 27 37 0 0 1 0 0 PRRC2B 84726 broad.mit.edu 37 9 134351533 134351533 + Missense_Mutation SNP G G T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:134351533G>T ENST00000357304.4 + 15 4072 c.4017G>T c.(4015-4017)tgG>tgT p.W1339C PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1339 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CAGGTCAGTGGCCAGGCAGGC 0.662000 OREG0019561 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 51 1.01871e-10 1.05771e-10 1 1 0 NCR1 9437 broad.mit.edu 37 19 55424082 55424082 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:55424082C>T ENST00000594765.1 + 7 780 c.755C>T c.(754-756)gCc>gTc p.A252V NCR1_ENST00000291890.4_Missense_Mutation_p.A253V|NCR1_ENST00000447255.1_Missense_Mutation_p.A252V|NCR1_ENST00000338835.5_Missense_Mutation_p.A236V|NCR1_ENST00000357397.5_Missense_Mutation_p.A146V|NCR1_ENST00000350790.5_Missense_Mutation_p.A158V|NCR1_ENST00000598576.1_Missense_Mutation_p.A240V O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 253 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) GATCACACTGCCCAGAATCTC 0.498000 34 39 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120351118 120351118 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:120351118G>A ENST00000397843.2 + 38 4382 c.4216G>A c.(4216-4218)Gat>Aat p.D1406N ARHGEF12_ENST00000532993.1_Missense_Mutation_p.D1303N|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.D1387N NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1406 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GGAAGAGAAGGATGTTAATTT 0.383000 T MLL AML 4 70 0 0 1 0 0 KRT8 3856 broad.mit.edu 37 12 53293763 53293763 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:53293763G>A ENST00000552551.1 - 6 1209 c.777C>T c.(775-777)atC>atT p.I259I KRT8_ENST00000546897.1_Silent_p.I259I|KRT8_ENST00000552150.1_Silent_p.I287I|KRT8_ENST00000293308.6_Silent_p.I259I P05787 K2C8_HUMAN keratin 8 259 Linker 12.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTCAGCAATGATGCTGTCCA 0.582000 19 60 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141955354 141955354 + Splice_Site SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr7:141955354C>T ENST00000552471.1 - 2 499 c.e2+1 PRSS58_ENST00000547058.2_Splice_Site Q8IYP2 PRS58_HUMAN protease, serine, 58 proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 TTATCACTCACGGTAAATTGC 0.502000 21 58 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414902 14414902 + RNA SNP G G A rs2821609 by1000genomes TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr21:14414902G>A ENST00000507941.1 + 0 95 CCAGCTTGACGTCCTTGATGG 0.443000 5 21 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29693822 29693822 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr22:29693822G>C ENST00000397938.2 + 13 1619 c.1300G>C c.(1300-1302)Gat>Cat p.D434H EWSR1_ENST00000332035.6_Missense_Mutation_p.D378H|EWSR1_ENST00000414183.2_Missense_Mutation_p.D439H|EWSR1_ENST00000332050.6_Missense_Mutation_p.D361H|EWSR1_ENST00000331029.7_Missense_Mutation_p.D396H|EWSR1_ENST00000406548.1_Missense_Mutation_p.D433H NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3 NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2 Q01844 EWS_HUMAN EWS RNA-binding protein 1 434 RRM. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TCCAGGGAAAGATTTTCAAGG 0.502000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 17 40 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135744048 135744048 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:135744048C>G ENST00000375845.3 - 7 2424 c.2394G>C c.(2392-2394)caG>caC p.Q798H MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q815H|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q685H|MAP3K19_ENST00000315513.3_5'UTR NM_025052.3 NP_079328.3 mitogen-activated protein kinase kinase kinase 19 GGAATTCATTCTGTTTCATGG 0.393000 7 56 0 0 1 0 0 DGCR8 54487 broad.mit.edu 37 22 20074123 20074123 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr22:20074123G>A ENST00000351989.3 + 2 1066 c.637G>A c.(637-639)Gaa>Aaa p.E213K DGCR8_ENST00000383024.2_Missense_Mutation_p.E213K|DGCR8_ENST00000407755.1_Missense_Mutation_p.E213K NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 213 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) GGAGCTAGATGAAGAAGGAGC 0.473000 29 83 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30308938 30308938 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr21:30308938C>G ENST00000361371.4 - 26 4714 c.4564G>C c.(4564-4566)Gaa>Caa p.E1522Q LTN1_ENST00000389194.2_Missense_Mutation_p.E1568Q NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1522 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GTTGGATTTTCTGGCATAAGC 0.423000 7 293 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203272 140203272 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:140203272G>A ENST00000529859.1 + 1 1912 c.1912G>A c.(1912-1914)Gag>Aag p.E638K PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E638K|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E638K|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCTGGATGAGACCGAAGC 0.637000 18 135 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108380744 108380744 + Silent SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:108380744C>G ENST00000265843.4 - 6 5600 c.5490G>C c.(5488-5490)ctG>ctC p.L1830L EXPH5_ENST00000443411.1_Silent_p.L1642L|EXPH5_ENST00000525344.1_Silent_p.L1823L|EXPH5_ENST00000428840.1_Silent_p.L1754L NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1830 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCAGTCGACTCAGGGCATTGT 0.423000 25 38 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10479725 10479725 + Silent SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:10479725C>G ENST00000538557.1 + 13 1576 c.1332C>G c.(1330-1332)ctC>ctG p.L444L PGD_ENST00000498356.1_3'UTR|PGD_ENST00000270776.8_Silent_p.L457L|PGD_ENST00000541529.1_Silent_p.L435L P52209 6PGD_HUMAN phosphogluconate dehydrogenase 457 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CCTATGAACTCTTGGCCAAAC 0.582000 5 105 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154268973 154268973 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:154268973C>T ENST00000285873.7 - 27 4342 c.4267G>A c.(4267-4269)Gaa>Aaa p.E1423K NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1423 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTTTTTTCTTCTTTACTAGTG 0.348000 16 43 0 0 1 0 0 DHRS11 79154 broad.mit.edu 37 17 34951448 34951448 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:34951448C>T ENST00000251312.5 + 2 407 c.195C>T c.(193-195)atC>atT p.I65I DHRS11_ENST00000590554.1_5'UTR|DHRS11_ENST00000394445.1_3'UTR NM_024308.3 NP_077284.2 Q6UWP2 DHR11_HUMAN dehydrogenase/reductase (SDR family) member 11 65 extracellular region binding|oxidoreductase activity endometrium(1)|lung(4) 5 GGACTTTGATCCCCTACAGAT 0.532000 25 49 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71840496 71840496 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:71840496G>A ENST00000258104.3 + 40 4643 c.4366G>A c.(4366-4368)Gtg>Atg p.V1456M DYSF_ENST00000429174.2_Missense_Mutation_p.V1456M|DYSF_ENST00000413539.2_Missense_Mutation_p.V1487M|DYSF_ENST00000410020.3_Missense_Mutation_p.V1474M|DYSF_ENST00000410041.1_Missense_Mutation_p.V1474M|DYSF_ENST00000409744.1_Missense_Mutation_p.V1443M|DYSF_ENST00000409762.1_Missense_Mutation_p.V1473M|DYSF_ENST00000409651.1_Missense_Mutation_p.V1488M|DYSF_ENST00000409582.3_Missense_Mutation_p.V1473M|DYSF_ENST00000409366.1_Missense_Mutation_p.V1457M|DYSF_ENST00000394120.2_Missense_Mutation_p.V1457M|DYSF_ENST00000479049.2_3'UTR NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1456 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TGGGGAAGACGTGCTCATCGA 0.612000 9 10 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27874638 27874638 + Nonsense_Mutation SNP G G T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:27874638G>T ENST00000374011.2 - 6 4957 c.3989C>A c.(3988-3990)tCg>tAg p.S1330* AHDC1_ENST00000247087.5_Nonsense_Mutation_p.S1330*|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 1330 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GAAGGCCCTCGACTGTGAGGG 0.612000 25 40 3.08376e-08 3.17145e-08 1 1 0 GPC1 2817 broad.mit.edu 37 2 241404610 241404610 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:241404610C>T ENST00000264039.2 + 7 1499 c.1251C>T c.(1249-1251)aaC>aaT p.N417N NM_002081.2 NP_002072.2 P35052 GPC1_HUMAN glypican 1 417 axon guidance anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 9 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949) GCTGCTGGAACGGGATGGCCA 0.667000 10 24 0 0 1 0 0 ZNF324 25799 broad.mit.edu 37 19 58982230 58982230 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:58982230G>A ENST00000536459.2 + 4 1080 c.371G>A c.(370-372)aGa>aAa p.R124K ZNF324_ENST00000196482.3_Missense_Mutation_p.R124K O75467 Z324A_HUMAN zinc finger protein 324 124 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2) 16 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) AGCCTGCAGAGACAACGGGGT 0.602000 35 96 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25440081 25440081 + RNA SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:25440081G>A ENST00000424208.1 + 0 1460 SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 TCGATGATGAGAAACTTATAT 0.527000 13 273 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6471399 6471399 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:6471399C>T ENST00000358945.3 - 3 1133 c.693G>A c.(691-693)caG>caA p.Q231Q SCNN1A_ENST00000543768.1_Silent_p.Q254Q|SCNN1A_ENST00000396966.2_Silent_p.Q231Q|SCNN1A_ENST00000360168.3_Silent_p.Q290Q|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000228916.2_Silent_p.Q231Q|SCNN1A_ENST00000538979.1_Intron P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 231 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CCGATTTGTTCTGGTTGCACT 0.562000 33 68 0 0 1 0 0 FLOT2 2319 broad.mit.edu 37 17 27209406 27209406 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:27209406C>G ENST00000394906.2 - 8 770 c.693G>C c.(691-693)caG>caC p.Q231H FLOT2_ENST00000585169.1_Missense_Mutation_p.Q176H|FLOT2_ENST00000394908.4_Missense_Mutation_p.Q176H|FLOT2_ENST00000577789.1_5'UTR Q14254 FLOT2_HUMAN flotillin 2 176 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction endometrium(3)|lung(6)|prostate(1)|urinary_tract(1) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) CAGCATCTCTCTGCACCACGG 0.587000 4 56 0 0 1 0 0 AKAP7 9465 broad.mit.edu 37 6 131571736 131571736 + Nonsense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr6:131571736C>G ENST00000342266.4 + 1 438 c.29C>G c.(28-30)tCa>tGa p.S10* AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000368123.4_Intron|AKAP7_ENST00000474850.2_Nonsense_Mutation_p.S10*|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000537868.1_Intron NM_004842.3 NP_004833.1 O43687 AKA7A_HUMAN A kinase (PRKA) anchor protein 7 10 Required for membrane localization. intracellular signal transduction|ion transport apical plasma membrane|intracellular|lateral plasma membrane protein kinase A binding endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1) 13 Breast(56;0.152) GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345) TTTCCTTTCTCAAGAGATGAA 0.448000 6 60 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33565363 33565363 + Missense_Mutation SNP G G A rs61736871 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:33565363G>A ENST00000321505.4 + 1 1543 c.1363G>A c.(1363-1365)Gat>Aat p.D455N KIAA1549L_ENST00000265654.5_Missense_Mutation_p.D455N|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.D455N KIAA1549-like TTCAGCTGCCGATGCCATAAA 0.423000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 122 0 0 1 0 0 CYP51A1 1595 broad.mit.edu 37 7 91753166 91753166 + Splice_Site SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr7:91753166G>A ENST00000003100.8 - 6 937 c.770_splice c.e6-1 p.R258_splice CYP51A1_ENST00000450723.1_Splice_Site_p.R153_splice|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 252 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTGTCCCTGCGTCTGTAATTA 0.343000 12 24 0 0 1 0 0 SLC14A2 8170 broad.mit.edu 37 18 43221255 43221255 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr18:43221255G>A ENST00000255226.6 + 8 1889 c.1073G>A c.(1072-1074)gGa>gAa p.G358E SLC14A2_ENST00000586448.1_Missense_Mutation_p.G358E NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 358 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 ATCGCCATCGGAGGCATGTTC 0.552000 24 38 0 0 1 0 0 TRBV5-4 28611 broad.mit.edu 37 7 142168862 142168862 + RNA SNP A A G rs140095394 by1000genomes TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr7:142168862A>G ENST00000454561.2 - 0 183 TGGGCCAGGCAGCACTGCACC 0.597000 5 26 0 0 1 0 0 USP1 7398 broad.mit.edu 37 1 62913122 62913122 + Nonsense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:62913122C>T ENST00000339950.4 + 7 2175 c.1360C>T c.(1360-1362)Caa>Taa p.Q454* USP1_ENST00000371146.1_Nonsense_Mutation_p.Q454* NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 454 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) AGAAGATTTTCAAGACATCAG 0.388000 15 28 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12697318 12697318 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr18:12697318C>T ENST00000262127.2 - 5 835 c.610G>A c.(610-612)Gag>Aag p.E204K RP11-973H7.2_ENST00000585331.1_RNA|CEP76_ENST00000423709.2_Missense_Mutation_p.E129K NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 204 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AAAGTCGTCTCACCAAATATG 0.388000 24 48 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30308975 30308975 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr21:30308975C>T ENST00000361371.4 - 26 4677 c.4527G>A c.(4525-4527)ttG>ttA p.L1509L LTN1_ENST00000389194.2_Silent_p.L1555L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1509 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 GCAATTTATTCAAACTCTTTG 0.388000 6 283 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66191233 66191233 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:66191233G>A ENST00000409699.2 - 22 2979 c.2807C>T c.(2806-2808)tCc>tTc p.S936F MEGF11_ENST00000288745.3_Missense_Mutation_p.S861F|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000395625.2_Missense_Mutation_p.S861F|MEGF11_ENST00000422354.1_Missense_Mutation_p.S936F A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 936 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 GCTATTCAAGGAACAAGTACT 0.428000 4 62 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54257190 54257190 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr4:54257190G>A ENST00000507166.1 + 8 520 c.520G>A c.(520-522)Gat>Aat p.D174N FIP1L1_ENST00000337488.6_Missense_Mutation_p.D174N|FIP1L1_ENST00000306932.6_Missense_Mutation_p.D159N|FIP1L1_ENST00000507922.1_Missense_Mutation_p.D159N|FIP1L1_ENST00000358575.5_Missense_Mutation_p.D159N Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 174 Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGATCTTTCTGATTATTTTAA 0.294000 T PDGFRA idiopathic hypereosinophilic syndrome 13 43 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88270061 88270061 + Nonsense_Mutation SNP C C A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:88270061C>A ENST00000357081.3 - 11 1228 c.1084G>T c.(1084-1086)Gaa>Taa p.E362* AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.E374*|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.E200*|AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.E322* Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 362 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 ATCCTACCTTCAGGAGGTAAG 0.423000 6 26 8.12818e-05 8.16581e-05 1 1 0 SMARCAL1 50485 broad.mit.edu 37 2 217279495 217279495 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:217279495G>A ENST00000357276.4 + 3 398 c.68G>A c.(67-69)cGc>cAc p.R23H SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R23H NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 23 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GCTCTGGCCCGCAGAGCTGAG 0.493000 Schimke Immuno-Osseous Dysplasia 4 120 0 0 1 0 0 CBX7 23492 broad.mit.edu 37 22 39530551 39530551 + Silent SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr22:39530551G>C ENST00000216133.5 - 5 658 c.453C>G c.(451-453)ctC>ctG p.L151L CBX7_ENST00000401405.3_Intron|CBX7_ENST00000475962.1_Intron NM_175709.3 NP_783640.1 O95931 CBX7_HUMAN chromobox homolog 7 151 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear chromatin|PcG protein complex endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 Melanoma(58;0.04) TCTTGCGCGAGAGCCGCAGGT 0.697000 3 11 0 0 1 0 0 LINC00482 284185 broad.mit.edu 37 17 79279518 79279518 + RNA SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:79279518G>A ENST00000332012.5 - 0 378 NR_038080.1 aggagcacgggaaccaggggg 0.632000 3 6 0 0 1 0 0 UTP20 27340 broad.mit.edu 37 12 101680212 101680212 + Nonsense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:101680212G>A ENST00000261637.4 + 5 614 c.440G>A c.(439-441)tGg>tAg p.W147* NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 147 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 TTGTTAGAATGGGCTTTCACC 0.433000 45 108 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32635509 32635509 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:32635509C>T ENST00000242310.4 - 1 158 c.69G>A c.(67-69)tcG>tcA p.S23S RP11-555J4.4_ENST00000430787.1_RNA NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 23 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCTCGCTGTCCGAGTCTGACA 0.567000 4 74 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48543884 48543884 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:48543884G>A ENST00000293255.2 - 3 346 c.216C>T c.(214-216)ctC>ctT p.L72L NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 72 EF-hand 2. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) TTTGCTGGCCGAGCTCAATCA 0.532000 25 45 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5462999 5462999 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:5462999C>T ENST00000345221.3 - 4 1571 c.1017G>A c.(1015-1017)ggG>ggA p.G339G NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.G339G|NLRP1_ENST00000269280.4_Silent_p.G339G|NLRP1_ENST00000577119.1_Silent_p.G339G|NLRP1_ENST00000572272.1_Silent_p.G339G|NLRP1_ENST00000262467.5_Silent_p.G339G 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 1 339 NACHT. 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) GTGTTGACTTCCCAATTCCAG 0.542000 37 118 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 119976943 119976943 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:119976943G>A ENST00000313400.4 - 3 809 c.709C>T c.(709-711)Cgc>Tgc p.R237C ASTN2_ENST00000373996.3_Missense_Mutation_p.R237C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R237C O75129 ASTN2_HUMAN astrotactin 2 237 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGGATGCGGCGACGCTTCTGC 0.637000 29 34 0 0 1 0 0 MMEL1 79258 broad.mit.edu 37 1 2538439 2538439 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:2538439G>A ENST00000288709.6 - 7 818 c.578C>T c.(577-579)gCg>gTg p.A193V MMEL1_ENST00000378412.3_Missense_Mutation_p.A202V|MMEL1_ENST00000502556.1_Intron NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 202 proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1) 27 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CCTGTCCATCGCCACCGGCCA 0.632000 37 64 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54673360 54673360 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:54673360G>C ENST00000376591.4 - 3 481 c.350C>G c.(349-351)tCt>tGt p.S117C TMC4_ENST00000301187.4_Missense_Mutation_p.S111C|TMC4_ENST00000476013.2_5'UTR NM_001145303.1|NM_144686.2 NP_001138775.1|NP_653287.1 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 117 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CTTAGTTCCAGAGCCATAGAC 0.572000 20 55 0 0 1 0 0 CINP 51550 broad.mit.edu 37 14 102825817 102825817 + Missense_Mutation SNP T T A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr14:102825817T>A ENST00000216756.6 - 2 155 c.115A>T c.(115-117)Acc>Tcc p.T39S CINP_ENST00000541568.2_Missense_Mutation_p.T39S|CINP_ENST00000536961.2_Missense_Mutation_p.T54S NM_032630.2 NP_116019.1 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2 interacting protein 39 cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(2)|lung(2) 4 TCATTGAGGGTTTCCCACTTC 0.373000 20 41 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49224135 49224135 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:49224135G>A ENST00000222145.4 - 12 3016 c.2812C>T c.(2812-2814)Cgc>Tgc p.R938C NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 938 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) AGGAGGCGGCGGAGCCTACGG 0.652000 5 99 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10821737 10821737 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:10821737G>A ENST00000526148.1 - 18 2529 c.2019C>T c.(2017-2019)ctC>ctT p.L673L RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.L635L|EIF4G2_ENST00000339995.5_Silent_p.L673L|EIF4G2_ENST00000525681.1_Silent_p.L673L NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 673 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AAAGTAGGAAGAGAGGAAAAT 0.413000 13 53 0 0 1 0 0 PVRL4 81607 broad.mit.edu 37 1 161043042 161043042 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:161043042G>A ENST00000368012.3 - 8 1583 c.1281C>T c.(1279-1281)ctC>ctT p.L427L PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron NM_030916.2 NP_112178.2 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 427 adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) TGTTGTCCTTGAGACTATCAG 0.652000 5 37 0 0 1 0 0 CCNF 899 broad.mit.edu 37 16 2487144 2487144 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:2487144G>A ENST00000397066.4 + 5 449 c.361G>A c.(361-363)Gag>Aag p.E121K NM_001761.2 NP_001752.2 P41002 CCNF_HUMAN cyclin F 121 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1) 20 Ovarian(90;0.17) TGTGTCTGATGAGGCCCGCGC 0.567000 6 143 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339679 131339679 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:131339679C>T ENST00000372739.3 + 8 1089 c.979C>T c.(979-981)Ctg>Ttg p.L327L SPTAN1_ENST00000358161.5_Silent_p.L327L|SPTAN1_ENST00000372731.4_Silent_p.L327L NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 327 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 GTCCCACCCTCTGAGTGCAAC 0.507000 33 57 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 6 24 0 0 1 0 0 RELB 5971 broad.mit.edu 37 19 45515473 45515473 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:45515473C>T ENST00000221452.8 + 4 593 c.443C>T c.(442-444)tCg>tTg p.S148L RELB_ENST00000540120.1_Missense_Mutation_p.S148L|RELB_ENST00000505236.1_Missense_Mutation_p.S145L NM_006509.3 NP_006500.2 Q01201 RELB_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog B 148 RHD. nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1) 12 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00986) GAGGGCCGCTCGGCCGGCAGC 0.761000 20 15 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241492400 241492400 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:241492400G>A ENST00000391987.1 - 4 510 c.144C>T c.(142-144)ttC>ttT p.F48F ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000405002.1_Silent_p.F48F|ANKMY1_ENST00000405523.3_Silent_p.F137F|ANKMY1_ENST00000536462.1_Silent_p.F90F|ANKMY1_ENST00000272972.3_Silent_p.F48F|ANKMY1_ENST00000373318.2_Silent_p.F137F|ANKMY1_ENST00000373320.4_Silent_p.F48F|ANKMY1_ENST00000361678.4_Silent_p.F137F|ANKMY1_ENST00000406958.1_Silent_p.F137F|ANKMY1_ENST00000403283.1_Silent_p.F216F|ANKMY1_ENST00000401804.1_Silent_p.F137F Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 48 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) ATGTGCCCGTGAAACTGGAGC 0.552000 16 32 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366801 248366801 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:248366801G>C ENST00000456743.1 + 1 470 c.432G>C c.(430-432)atG>atC p.M144I NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GTGGACTTATGACTGCCTTTT 0.453000 74 250 0 0 1 0 0 ZRANB2 9406 broad.mit.edu 37 1 71544247 71544247 + Splice_Site SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:71544247C>T ENST00000370920.3 - 3 412 c.109_splice c.e3-1 p.E37_splice ZRANB2_ENST00000254821.6_Splice_Site_p.E37_splice NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 37 mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 CAGTTGTTTTCTCTGAAAACA 0.373000 24 59 0 0 1 0 0 CD34 947 broad.mit.edu 37 1 208072511 208072511 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:208072511G>A ENST00000356522.4 - 3 644 c.323C>T c.(322-324)tCt>tTt p.S108F CD34_ENST00000310833.7_Missense_Mutation_p.S108F|CD34_ENST00000537704.1_Intron NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 108 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 CTGGACAGAAGAGTTTGTGTT 0.473000 54 184 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109367852 109367852 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:109367852C>T ENST00000283195.6 + 10 1532 c.1406C>T c.(1405-1407)tCa>tTa p.S469L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 469 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.S469*(2) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 CATGAAACCTCAAGGCTTGAA 0.338000 11 229 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107400293 107400293 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chrX:107400293C>T ENST00000334504.7 - 45 5243 c.5010G>A c.(5008-5010)acG>acA p.T1670T COL4A6_ENST00000372216.4_Silent_p.T1671T|COL4A6_ENST00000418180.1_Silent_p.T205T|COL4A6_ENST00000394872.2_Silent_p.T1671T|COL4A6_ENST00000545689.1_Silent_p.T1646T|COL4A6_ENST00000538570.1_Silent_p.T1613T NM_033641.2 NP_378667.1 Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 1671 Collagen IV NC1. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 CAGCTTTCAGCGTTTCAGACA 0.582000 Alport syndrome with Diffuse Leiomyomatosis 40 55 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458870 248458870 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:248458870C>T ENST00000317996.1 - 1 10 c.11G>A c.(10-12)aGa>aAa p.R4K NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGTAGTATTTCTCATCTCCAT 0.443000 19 116 0 0 1 0 0 CXorf21 80231 broad.mit.edu 37 X 30577888 30577888 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chrX:30577888C>T ENST00000378962.3 - 3 907 c.585G>A c.(583-585)gaG>gaA p.E195E NM_025159.2 NP_079435.1 Q9HAI6 CX021_HUMAN chromosome X open reading frame 21 195 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 AGCTGCTTTTCTCTTTGATGC 0.413000 46 63 0 0 1 0 0 CCDC57 284001 broad.mit.edu 37 17 80159775 80159775 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:80159775G>A ENST00000392347.1 - 2 82 c.46C>T c.(46-48)Cgc>Tgc p.R16C CCDC57_ENST00000392343.3_Missense_Mutation_p.R16C|CCDC57_ENST00000389641.4_Missense_Mutation_p.R16C NM_198082.2 NP_932348.2 Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 16 endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) TCCTCCTTGCGAAGCAGCAGC 0.657000 3 32 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36230658 36230658 + Missense_Mutation SNP G G A rs145147471 byFrequency TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr4:36230658G>A ENST00000303965.4 - 2 940 c.451C>T c.(451-453)Cgc>Tgc p.R151C NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 151 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 GGGAAGTCGCGTTTAGGAGGA 0.393000 24 26 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145647224 145647224 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:145647224C>G ENST00000265271.5 + 15 2510 c.2344C>G c.(2344-2346)Cca>Gca p.P782A RBM27_ENST00000506502.1_Missense_Mutation_p.P727A NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 782 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding p.P782A(1) NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATTTTCAACTCCAGGCCATCC 0.289000 15 54 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245849209 245849209 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:245849209C>G ENST00000366518.4 + 9 1885 c.1781C>G c.(1780-1782)tCt>tGt p.S594C KIF26B_ENST00000407071.2_Missense_Mutation_p.S975C Q2KJY2 KI26B_HUMAN kinesin family member 26B 975 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AGCCCACTCTCTGAGTCTGAT 0.577000 6 23 0 0 1 0 0 KCNV2 169522 broad.mit.edu 37 9 2718734 2718734 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:2718734G>A ENST00000382082.3 + 1 1233 c.995G>A c.(994-996)cGc>cAc p.R332H NM_133497.3 NP_598004.1 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 332 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 35 GBM - Glioblastoma multiforme(50;0.0257) CGCTTCGCGCGCAGCGCCCTC 0.677000 41 62 0 0 1 0 0 MBP 4155 broad.mit.edu 37 18 74692412 74692412 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr18:74692412G>A ENST00000355994.2 - 9 1149 c.886C>T c.(886-888)Cgc>Tgc p.R296C MBP_ENST00000382582.3_Missense_Mutation_p.R189C|MBP_ENST00000397875.3_Missense_Mutation_p.R173C|MBP_ENST00000578193.1_3'UTR|MBP_ENST00000397866.4_Missense_Mutation_p.R163C|RP11-862L9.3_ENST00000582763.1_RNA|MBP_ENST00000580402.1_Missense_Mutation_p.R296C|MBP_ENST00000528160.1_Silent_p.V46V|MBP_ENST00000354542.4_Missense_Mutation_p.R65C|MBP_ENST00000526111.1_Missense_Mutation_p.R141C|MBP_ENST00000579129.1_Missense_Mutation_p.R245C|MBP_ENST00000397865.5_Missense_Mutation_p.R152C|MBP_ENST00000359645.3_Missense_Mutation_p.R178C|MBP_ENST00000527041.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.R228C NM_001025101.1 NP_001020272.1 P02686 MBP_HUMAN myelin basic protein 296 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) GATCCAGAGCGACTATCTCTT 0.527000 37 94 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38121171 38121171 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr22:38121171C>G ENST00000406386.3 + 7 2863 c.2608C>G c.(2608-2610)Caa>Gaa p.Q870E RP1-37E16.12_ENST00000455236.1_RNA NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 870 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) CTCCTCATCTCAATGCTGCAC 0.498000 59 154 0 0 1 0 0 ZNF44 51710 broad.mit.edu 37 19 12385844 12385844 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:12385844C>T ENST00000356109.5 - 4 397 c.279G>A c.(277-279)atG>atA p.M93I ZNF44_ENST00000355684.5_Missense_Mutation_p.M45I NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 93 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TTTCCCATTTCATTCCTAAAA 0.308000 3 16 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203316865 203316865 + Silent SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:203316865C>G ENST00000354955.4 - 2 997 c.534G>C c.(532-534)ctG>ctC p.L178L FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 178 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GGAGCTCTCTCAGGGATCGAG 0.597000 108 79 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32956885 32956885 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:32956885G>A ENST00000399302.2 + 4 4029 c.3694G>A c.(3694-3696)Gat>Aat p.D1232N QSER1_ENST00000527788.1_Missense_Mutation_p.D993N NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1232 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) ATTTTCTTCTGATGAAGATGA 0.353000 10 167 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161480645 161480645 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:161480645C>T ENST00000271450.6 + 5 679 c.641C>T c.(640-642)tCa>tTa p.S214L FCGR2A_ENST00000367972.4_Missense_Mutation_p.S213L|FCGR2A_ENST00000467525.1_3'UTR NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 214 integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGCAGCTCTTCACCAATGGGG 0.507000 40 152 0 0 1 0 0 ANKZF1 55139 broad.mit.edu 37 2 220098519 220098519 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:220098519C>T ENST00000323348.5 + 8 1076 c.902C>T c.(901-903)tCt>tTt p.S301F ANKZF1_ENST00000409849.1_Missense_Mutation_p.S91F|ANKZF1_ENST00000410034.3_Missense_Mutation_p.S301F NM_018089.2 NP_060559.2 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 1 301 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTCCCCGCTCTGGCCGGTCT 0.602000 42 84 0 0 1 0 0 UPK3B 80761 broad.mit.edu 37 7 76140988 76140988 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr7:76140988C>G ENST00000419923.2 + 2 640 c.415C>G c.(415-417)Cag>Gag p.Q139E UPK3B_ENST00000257632.5_Missense_Mutation_p.Q139E|UPK3B_ENST00000394849.1_Missense_Mutation_p.Q84E|UPK3B_ENST00000334348.3_Missense_Mutation_p.Q84E|UPK3B_ENST00000448265.3_Missense_Mutation_p.Q139E|UPK3B_ENST00000443097.2_Missense_Mutation_p.Q84E Q9BT76 UPK3B_HUMAN uroplakin 3B 139 negative regulation of gene expression integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2) 8 Myeloproliferative disorder(862;0.204) CAGGGGCTTCCAGAACCCGGA 0.622000 4 9 0 0 1 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12266899 12266899 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:12266899C>T ENST00000376259.3 + 10 1297 c.1208C>T c.(1207-1209)tCc>tTc p.S403F TNFRSF1B_ENST00000492361.1_3'UTR NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 403 apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) CAAGCCAGCTCCACAATGGGA 0.597000 28 48 0 0 1 0 0 XRRA1 143570 broad.mit.edu 37 11 74638504 74638504 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:74638504C>T ENST00000340360.6 - 7 761 c.430G>A c.(430-432)Gaa>Aaa p.E144K XRRA1_ENST00000527087.1_Missense_Mutation_p.E144K|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_5'UTR NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 144 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 AGATCCAGTTCCTTTAGGGCT 0.393000 8 17 0 0 1 0 0 AAR2 25980 broad.mit.edu 37 20 34828442 34828442 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr20:34828442G>C ENST00000373932.3 + 2 998 c.652G>C c.(652-654)Gag>Cag p.E218Q AAR2_ENST00000397286.3_Missense_Mutation_p.E218Q|AAR2_ENST00000320849.4_Missense_Mutation_p.E218Q NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) GATGTTCCCAGAGGGTGCCAC 0.602000 36 113 0 0 1 0 0 FBXO40 51725 broad.mit.edu 37 3 121340544 121340544 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr3:121340544G>A ENST00000338040.4 + 3 682 c.268G>A c.(268-270)Gcc>Acc p.A90T NM_016298.3 NP_057382.2 Q9UH90 FBX40_HUMAN F-box protein 40 90 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GGTGTGCCCCGCCAGCGTGGT 0.577000 27 54 0 0 1 0 0 MGEA5 10724 broad.mit.edu 37 10 103557837 103557837 + Silent SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr10:103557837G>C ENST00000361464.3 - 10 2279 c.1884C>G c.(1882-1884)ctC>ctG p.L628L MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000357797.5_Silent_p.L575L|MGEA5_ENST00000370094.3_Silent_p.L628L|MGEA5_ENST00000439817.1_Silent_p.L575L NM_012215.3 NP_036347.1 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 628 Histone acetyltransferase activity (By similarity). glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 23 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CACAATTGGAGAGCCGAGTGA 0.403000 4 60 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6495551 6495551 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:6495551C>T ENST00000264071.2 - 4 1330 c.959G>A c.(958-960)cGc>cAc p.R320H TUBB4A_ENST00000540257.1_Missense_Mutation_p.R320H P04350 TBB4_HUMAN tubulin, beta 4A class IVa 320 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity CATGGACATGCGGCCCCGGAA 0.637000 5 195 0 0 1 0 0 TOLLIP 54472 broad.mit.edu 37 11 1310007 1310007 + Splice_Site SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:1310007C>T ENST00000527886.1 - 4 540 c.e4-1 TOLLIP_ENST00000317204.6_Splice_Site|TOLLIP_ENST00000528719.1_Splice_Site|TOLLIP_ENST00000525159.1_Splice_Site|TOLLIP_ENST00000542915.1_Splice_Site|TOLLIP_ENST00000527938.1_Intron|TOLLIP_ENST00000263646.7_Splice_Site Q9H0E2 TOLIP_HUMAN toll interacting protein cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) AGAAGGCTCTCTGCGGGAGAC 0.657000 19 21 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52548442 52548442 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr3:52548442G>A ENST00000321725.6 + 34 3684 c.3608G>A c.(3607-3609)cGg>cAg p.R1203Q NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 1203 FAS1 4. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GAAACCCTGCGGAAGGGTGGA 0.617000 5 56 0 0 1 0 0 FMNL1 752 broad.mit.edu 37 17 43314943 43314943 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:43314943G>A ENST00000331495.3 + 9 1167 c.831G>A c.(829-831)gcG>gcA p.A277A FMNL1_ENST00000328118.3_Silent_p.A277A|FMNL1_ENST00000592006.1_3'UTR NM_005892.3 NP_005883.2 O95466 FMNL_HUMAN formin-like 1 277 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2) 33 AGCTGCTGGCGGCCGTGTGCT 0.607000 55 124 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11850101 11850101 + Missense_Mutation SNP C C T rs150604583 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:11850101C>T ENST00000396516.2 - 20 2751 c.2554G>A c.(2554-2556)Gaa>Aaa p.E852K ZC3H7A_ENST00000575984.1_Missense_Mutation_p.E48K|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.E852K Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 852 nucleus nucleic acid binding|zinc ion binding p.E852Q(1) breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 ACTGTAACTTCAGCATAATCT 0.398000 40 82 0 0 1 0 0 TBC1D16 125058 broad.mit.edu 37 17 77921464 77921464 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:77921464C>T ENST00000310924.2 - 9 1823 c.1708G>A c.(1708-1710)Gag>Aag p.E570K TBC1D16_ENST00000572862.1_Missense_Mutation_p.E208K|TBC1D16_ENST00000570373.1_Missense_Mutation_p.E209K|TBC1D16_ENST00000576768.1_Missense_Mutation_p.E195K|TBC1D16_ENST00000340848.7_Missense_Mutation_p.E208K NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 570 Rab-GAP TBC. intracellular Rab GTPase activator activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) TCCATGTCCTCGTCCCGGGGT 0.612000 4 89 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38799112 38799112 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr4:38799112G>A ENST00000308979.2 - 4 1614 c.1341C>T c.(1339-1341)atC>atT p.I447I TLR1_ENST00000502213.2_Silent_p.I447I NM_003263.3 NP_003254.2 Q15399 TLR1_HUMAN toll-like receptor 1 447 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 CAAGTACCTTGATCCTGGGAG 0.318000 32 50 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43766890 43766890 + Silent SNP T T C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:43766890T>C ENST00000263801.3 - 10 1398 c.1146A>G c.(1144-1146)acA>acG p.T382T TP53BP1_ENST00000382039.3_Silent_p.T387T|TP53BP1_ENST00000382044.4_Silent_p.T387T|TP53BP1_ENST00000450115.2_Silent_p.T387T NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 382 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) CTTCTTGCTCTGTGGGACTGC 0.423000 Other conserved DNA damage response genes 15 21 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40889933 40889933 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:40889933G>A ENST00000291823.2 - 2 863 c.579C>T c.(577-579)tgC>tgT p.C193C NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 193 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CCACCTTCTCGCAGAAGGGCA 0.632000 4 85 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 416876 416876 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:416876G>A ENST00000399788.2 - 23 4036 c.3674C>T c.(3673-3675)aCt>aTt p.T1225I KDM5A_ENST00000382815.4_Missense_Mutation_p.T1225I NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1225 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TGACAGAATAGTCTCTAGCCT 0.483000 T NUP98 AML 4 62 0 0 1 0 0 OR56A1 120796 broad.mit.edu 37 11 6048161 6048161 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:6048161G>A ENST00000316650.5 - 1 810 c.774C>T c.(772-774)ttC>ttT p.F258F NM_001001917.2 NP_001001917.2 Q8NGH5 O56A1_HUMAN olfactory receptor, family 56, subfamily A, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTATGGTGCTGAAGAAAAGAA 0.507000 32 52 0 0 1 0 0 ZNF211 10520 broad.mit.edu 37 19 58152857 58152857 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:58152857C>T ENST00000544273.1 + 5 1366 c.1039C>T c.(1039-1041)Cac>Tac p.H347Y ZNF211_ENST00000420680.1_Missense_Mutation_p.H339Y|ZNF211_ENST00000240731.4_Missense_Mutation_p.H348Y|ZNF211_ENST00000391703.3_Missense_Mutation_p.H274Y|ZNF211_ENST00000347302.3_Missense_Mutation_p.H335Y|ZNF211_ENST00000299871.5_Missense_Mutation_p.H400Y|ZNF211_ENST00000254182.7_Missense_Mutation_p.H326Y|ZNF211_ENST00000541801.1_Missense_Mutation_p.H326Y Q13398 ZN211_HUMAN zinc finger protein 211 335 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAGGAAAGTTCACACTGGAGA 0.458000 29 55 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5929142 5929142 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:5929142C>T ENST00000399933.3 - 6 2399 c.2400G>A c.(2398-2400)cgG>cgA p.R800R KIAA2026_ENST00000381461.2_Silent_p.R770R NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 800 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) CAGCTTGCCTCCGATGATACC 0.299000 10 40 0 0 1 0 0 MFSD9 84804 broad.mit.edu 37 2 103340312 103340312 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:103340312C>G ENST00000258436.5 - 5 527 c.484G>C c.(484-486)Gag>Cag p.E162Q NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 162 transmembrane transport integral to membrane|plasma membrane transporter activity p.E162K(1) breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 CGTTCCTTCTCTGGAACCACA 0.498000 23 63 0 0 1 0 0 ZBTB44 29068 broad.mit.edu 37 11 130131665 130131665 + Missense_Mutation SNP A A T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:130131665A>T ENST00000525842.1 - 2 471 c.104T>A c.(103-105)aTt>aAt p.I35N ZBTB44_ENST00000357899.4_Missense_Mutation_p.I35N|ZBTB44_ENST00000530205.1_Missense_Mutation_p.I35N|ZBTB44_ENST00000397753.1_Missense_Mutation_p.I35N NM_014155.4 NP_054874.3 Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 35 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) CTGGACACGAATAGTGATATC 0.448000 37 83 0 0 1 0 0 EIF4G2 1982 broad.mit.edu 37 11 10823929 10823929 + Missense_Mutation SNP G G T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:10823929G>T ENST00000526148.1 - 12 1560 c.1050C>A c.(1048-1050)ttC>ttA p.F350L EIF4G2_ENST00000396525.2_Missense_Mutation_p.F350L|EIF4G2_ENST00000339995.5_Missense_Mutation_p.F350L|EIF4G2_ENST00000525681.1_Missense_Mutation_p.F350L NM_001172705.1 NP_001166176.1 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 gamma, 2 350 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 43 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CCTCCAGAAAGAAGTCACTTC 0.433000 51 100 4.25531e-23 4.54878e-23 1 1 0 OR4C13 283092 broad.mit.edu 37 11 49974168 49974168 + Missense_Mutation SNP C C A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr11:49974168C>A ENST00000555099.1 + 1 226 c.194C>A c.(193-195)tCc>tAc p.S65Y NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 GCCTATCTCTCCTTTATTGAT 0.428000 74 147 1.14856e-27 1.23385e-27 1 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178552067 178552067 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:178552067G>A ENST00000251582.7 - 19 2966 c.2865C>T c.(2863-2865)caC>caT p.H955H NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 955 TSP type-1 3. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) AGTGCTTGGCGTGCACGGAGC 0.692000 6 217 0 0 1 0 0 BBS5 129880 broad.mit.edu 37 2 170349481 170349481 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:170349481G>A ENST00000295240.3 + 6 860 c.484G>A c.(484-486)Gat>Aat p.D162N BBS5_ENST00000392663.2_Missense_Mutation_p.D162N|BBS5_ENST00000554017.1_Missense_Mutation_p.D162N|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.D162N NM_152384.2 NP_689597.1 Bardet-Biedl syndrome 5 endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 ACATGTATATGATAAAATAAA 0.328000 Bardet-Biedl syndrome 24 61 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9087590 9087590 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:9087590C>G ENST00000397910.4 - 1 4428 c.4225G>C c.(4225-4227)Gag>Cag p.E1409Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1409 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 GACTGTGTCTCAAATCCAGAT 0.473000 41 93 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52639288 52639288 + Silent SNP C C T rs138875857 byFrequency TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:52639288C>T ENST00000331817.5 + 7 1260 c.1077C>T c.(1075-1077)gcC>gcT p.A359A KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 359 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) AGCTGGAAGCCGCCCTGCAGC 0.652000 26 63 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54418948 54418948 + Splice_Site SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr14:54418948C>T ENST00000245451.4 - 3 387 c.e3-1 BMP4_ENST00000417573.1_Splice_Site|BMP4_ENST00000558984.1_Splice_Site|BMP4_ENST00000559087.1_Splice_Site NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 CATGGTGTCTCTGGGGAGGGG 0.468000 20 32 0 0 1 0 0 POLR3F 10621 broad.mit.edu 37 20 18448187 18448187 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr20:18448187G>A ENST00000377603.4 + 1 417 c.37G>A c.(37-39)Gcg>Acg p.A13T POLR3F_ENST00000462997.1_3'UTR NM_006466.2 NP_006457.2 Q9H1D9 RPC6_HUMAN polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa 13 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|protein binding breast(2) 2 GCCGCCTGACGCGGATCCGGT 0.632000 6 87 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50824598 50824598 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr10:50824598G>C ENST00000395562.2 + 3 560 c.91G>C c.(91-93)Gaa>Caa p.E31Q CHAT_ENST00000339797.1_5'UTR|CHAT_ENST00000337653.2_Missense_Mutation_p.E113Q|CHAT_ENST00000351556.3_5'UTR|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_5'UTR|CHAT_ENST00000455728.2_5'UTR NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 113 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) GCCCATCCTGGAAAAGGTCCC 0.562000 3 17 0 0 1 0 0 NDST3 9348 broad.mit.edu 37 4 119148066 119148066 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr4:119148066G>A ENST00000296499.5 + 8 2151 c.1748G>A c.(1747-1749)aGa>aAa p.R583K NDST3_ENST00000433996.2_Missense_Mutation_p.R502K NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 583 Heparan sulfate N-deacetylase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 AAACGCCACAGAGACATTTGG 0.368000 22 45 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131339461 131339461 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:131339461C>G ENST00000372739.3 + 7 949 c.839C>G c.(838-840)tCt>tGt p.S280C SPTAN1_ENST00000358161.5_Missense_Mutation_p.S280C|SPTAN1_ENST00000372731.4_Missense_Mutation_p.S280C NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 280 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 TTAATGGCCTCTGATGATTTT 0.483000 50 129 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44907628 44907628 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr15:44907628G>C ENST00000261866.7 - 16 2987 c.2971C>G c.(2971-2973)Caa>Gaa p.Q991E SPG11_ENST00000535302.2_Missense_Mutation_p.Q991E|SPG11_ENST00000427534.2_Missense_Mutation_p.Q991E|SPG11_ENST00000558319.1_Missense_Mutation_p.Q991E NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 991 cell death cytosol|integral to membrane|nucleus protein binding p.Q991*(1) autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) AGAATGAATTGAGAATGGAAA 0.423000 5 58 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3254607 3254607 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:3254607G>A ENST00000304646.2 + 1 361 c.361G>A c.(361-363)Gac>Aac p.D121N AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 GATGGCCTATGACCACTTTGT 0.507000 73 113 0 0 1 0 0 KIF1B 23095 broad.mit.edu 37 1 10364320 10364320 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:10364320G>A ENST00000377093.4 + 21 3230 c.3077G>A c.(3076-3078)aGa>aAa p.R1026K KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R1026K NM_183416.3 NP_904325.2 O60333 KIF1B_HUMAN kinesin family member 1B 619 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) CAAGGAATGAGAAGTCAAGAT 0.453000 12 249 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573366 140573366 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:140573366G>C ENST00000239446.4 + 1 1425 c.1241G>C c.(1240-1242)aGa>aCa p.R414T NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 414 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGAGATCAGAGCCGAGTAC 0.473000 5 159 0 0 1 0 0 KIAA0930 23313 broad.mit.edu 37 22 45595798 45595798 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr22:45595798G>A ENST00000336156.4 - 8 1036 c.971C>T c.(970-972)tCg>tTg p.S324L KIAA0930_ENST00000251993.7_Missense_Mutation_p.S329L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.S290L|KIAA0930_ENST00000474515.1_5'UTR|KIAA0930_ENST00000443310.3_Missense_Mutation_p.S306L NM_001009880.1 NP_001009880.1 Q6ICG6 K0930_HUMAN KIAA0930 324 protein binding endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1) 15 GTCGTTGGCCGAGTGCGACTT 0.637000 31 70 0 0 1 0 0 ASAP3 55616 broad.mit.edu 37 1 23760011 23760011 + Silent SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:23760011C>T ENST00000336689.3 - 21 2078 c.2034G>A c.(2032-2034)caG>caA p.Q678Q ASAP3_ENST00000437606.2_Silent_p.Q669Q|ASAP3_ENST00000495646.1_Silent_p.Q182Q|ASAP3_ENST00000484906.1_5'UTR NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 678 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 AGGTCCCCGCCTGGGCCTGCT 0.592000 57 123 0 0 1 0 0 ADAM19 8728 broad.mit.edu 37 5 156918889 156918889 + Missense_Mutation SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr5:156918889G>A ENST00000257527.4 - 17 2018 c.1940C>T c.(1939-1941)tCc>tTc p.S647F ADAM19_ENST00000394020.1_Missense_Mutation_p.S649F|ADAM19_ENST00000517905.1_Missense_Mutation_p.S647F|ADAM19_ENST00000430702.2_Missense_Mutation_p.S380F NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 647 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTCAAAGAAGGAGGTGTTCCT 0.547000 17 37 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62067397 62067397 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr2:62067397C>T ENST00000404929.1 - 3 753 c.742G>A c.(742-744)Gaa>Aaa p.E248K FAM161A_ENST00000405894.3_Missense_Mutation_p.E248K NM_001201543.1 NP_001188472.1 Q3B820 F161A_HUMAN family with sequence similarity 161, member A 248 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTCTTCTGTTCTCTTATCATC 0.368000 24 64 0 0 1 0 0 ZNF287 57336 broad.mit.edu 37 17 16455848 16455848 + Silent SNP A A G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:16455848A>G ENST00000395824.1 - 6 2225 c.1608T>C c.(1606-1608)taT>taC p.Y536Y ZNF287_ENST00000395825.3_Silent_p.Y536Y Q9HBT7 ZN287_HUMAN zinc finger protein 287 529 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) CATTGCATTTATATGGTTTCT 0.348000 36 45 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103410676 103410676 + Silent SNP G G A TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr14:103410676G>A ENST00000361246.2 - 30 4248 c.3960C>T c.(3958-3960)atC>atT p.I1320I NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 1320 CNH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) CCGGAAGCTTGATGTCAAAGC 0.572000 14 20 0 0 1 0 0 C1orf35 79169 broad.mit.edu 37 1 228290723 228290723 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:228290723C>T ENST00000272139.4 - 2 356 c.122G>A c.(121-123)cGc>cAc p.R41H C1orf35_ENST00000472617.1_5'UTR NM_024319.2 NP_077295.1 Q9BU76 MMTA2_HUMAN chromosome 1 open reading frame 35 41 large_intestine(1)|lung(1)|skin(1) 3 Prostate(94;0.0488) CTTCTGCCAGCGGCCTACCGG 0.761000 3 7 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135272732 135272732 + Missense_Mutation SNP C C G TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr7:135272732C>G ENST00000285968.6 + 10 1491 c.1465C>G c.(1465-1467)Caa>Gaa p.Q489E NUP205_ENST00000440390.2_Intron NM_015135.2 NP_055950.1 Q92621 NU205_HUMAN nucleoporin 205kDa 489 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GCGGCCCCCTCAACGCCAGGT 0.453000 13 26 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57317815 57317815 + Missense_Mutation SNP G G C TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:57317815G>C ENST00000293502.1 - 4 887 c.744C>G c.(742-744)aaC>aaG p.N248K NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 248 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 CCTGCATTATGTTTTTTAACT 0.483000 15 25 0 0 1 0 0 TERF2 7014 broad.mit.edu 37 16 69404416 69404416 + Missense_Mutation SNP G G T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:69404416G>T ENST00000254942.3 - 5 826 c.810C>A c.(808-810)caC>caA p.H270Q TERF2_ENST00000567296.2_Missense_Mutation_p.H270Q|TERF2_ENST00000603068.1_Missense_Mutation_p.H228Q|TERF2_ENST00000569611.2_5'UTR NM_005652.3 NP_005643.2 Q15554 TERF2_HUMAN telomeric repeat binding factor 2 228 age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation Golgi apparatus|nuclear telomere cap complex|nucleoplasm double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity NS(2)|breast(1)|large_intestine(3)|lung(1) 7 Ovarian(137;0.101) CGTCATCCAGGTGGCTCTCCA 0.517000 15 17 1.52009e-12 1.60907e-12 1 1 0 WASF2 10163 broad.mit.edu 37 1 27736222 27736222 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:27736222C>T ENST00000430629.2 - 8 1518 c.1303G>A c.(1303-1305)Gat>Aat p.D435N WASF2_ENST00000536657.1_Intron NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 435 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) CTACGGGCATCGCTCACGGCA 0.562000 4 74 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40490751 40490751 + Missense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr17:40490751C>T ENST00000264657.5 - 6 860 c.548G>A c.(547-549)gGa>gAa p.G183E STAT3_ENST00000389272.3_Missense_Mutation_p.G85E|STAT3_ENST00000404395.3_Missense_Mutation_p.G183E|STAT3_ENST00000588969.1_Missense_Mutation_p.G183E|STAT3_ENST00000585517.1_Missense_Mutation_p.G183E NM_003150.3|NM_139276.2 NP_003141.2|NP_644805.1 P40763 STAT3_HUMAN signal transducer and activator of transcription 3 (acute-phase response factor) 183 cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis cytosol|nucleus|plasma membrane calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135) BRCA - Breast invasive adenocarcinoma(366;0.139) TCACTTGCCTCCTTGACTCTT 0.343000 Hyperimmunoglobulin E Recurrent Infection Syndrome 22 29 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2428982 2428982 + Frame_Shift_Del DEL A A - TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:2428982delA ENST00000449969.1 + 16 2238 c.2077delA c.(2077-2079)acfs p.N693fs PLCH2_ENST00000419816.2_Frame_Shift_Del_p.N720fs|PLCH2_ENST00000378488.3_Intron|PLCH2_ENST00000378486.3_Frame_Shift_Del_p.N720fs|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 720 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GCTGCAGCTGAACCGAGCCAA 0.642 2 4 --- --- --- --- HEYL 26508 broad.mit.edu 37 1 40092420 40092420 + Frame_Shift_Del DEL C C - TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr1:40092420delC ENST00000372852.3 - 5 1065 c.746delG c.(745-747)ccfs p.R249fs HEYL_ENST00000535435.1_Frame_Shift_Del_p.R221fs NM_014571.3 NP_055386.1 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 249 Pro-rich. multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 7 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTCTAGGGGGCGGGCCCTCCG 0.692 2 4 --- --- --- --- LOC403323 403323 broad.mit.edu 37 9 66545704 66545704 + RNA DEL C C - rs12353356 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr9:66545704delC ENST00000445604.2 - 0 669 GAAAAAAAAACAAAGAAAGAA 0.373 3 3 --- --- --- --- LOC101927058 101927058 broad.mit.edu 37 12 43018865 43018867 + RNA DEL TTC TTC - TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr12:43018865_43018867delTTC ENST00000550337.1 - 0 752 ctcttcttctttcttcttcttct 0.453 2 4 --- --- --- --- RP11-597A11.1 0 broad.mit.edu 37 14 20138376 20138376 + RNA DEL G G - rs57620493 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr14:20138376delG ENST00000548261.1 + 0 391 ACAaaagaaagaaagaaagaa 0.388 3 4 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 2 4 --- --- --- --- ABCA17P 650655 broad.mit.edu 37 16 2475097 2475098 + RNA DEL TC TC - TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr16:2475097_2475098delTC ENST00000469908.1 + 0 3047 NR_003574.1 GGTAActctgtctctctctctc 0.559 2 4 --- --- --- --- NACC1 112939 broad.mit.edu 37 19 13246599 13246599 + Frame_Shift_Del DEL C C - TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx fe4a060a-a901-4c5a-aee3-829275162fb1 9409c484-c855-40cc-955d-49eecc0a065e g.chr19:13246599delC ENST00000292431.4 + 2 704 c.578delC c.(577-579)gtfs p.A193fs NM_052876.3 NP_443108.1 Q96RE7 NACC1_HUMAN nucleus accumbens associated 1, BEN and BTB (POZ) domain containing 193 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent cytoplasm|nuclear body endometrium(3)|large_intestine(2)|lung(3)|skin(1) 9 CAGAAGGAGGCTGGGGGCGGC 0.701 2 4 --- --- --- ---