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 FAM86DP 692099 broad.mit.edu 37 3 75475670 75475670 + RNA SNP A A C rs7430363 by1000genomes TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:75475670A>C ENST00000459803.1 - 0 859 NR_024241.1 ACCTCAGGAGACTGCTGGTGC 0.627000 4 40 0 0 1 0 0 SPRY2 10253 broad.mit.edu 37 13 80911680 80911680 + Missense_Mutation SNP T T A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr13:80911680T>A ENST00000377102.1 - 2 1138 c.161A>T c.(160-162)gAg>gTg p.E54V SPRY2_ENST00000377104.3_Missense_Mutation_p.E54V|SPRY2_ENST00000540649.1_Missense_Mutation_p.E54V O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 54 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) CTCTGTGTACTCATTGGTGTT 0.607000 21 85 0 0 1 0 0 TMIE 259236 broad.mit.edu 37 3 46750655 46750655 + Missense_Mutation SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:46750655G>A ENST00000326431.3 + 3 406 c.251G>A c.(250-252)cGg>cAg p.R84Q NM_147196.2 NP_671729.2 Q8NEW7 TMIE_HUMAN transmembrane inner ear 84 R -> W (in DFNB6; dbSNP:rs28942097). integral to membrane endometrium(1)|lung(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000688)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208) CGTGTGCCACGGACCCGGAAG 0.577000 10 41 0 0 1 0 0 THUMPD3 25917 broad.mit.edu 37 3 9425959 9425959 + Silent SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:9425959C>T ENST00000345094.3 + 9 1633 c.1299C>T c.(1297-1299)gtC>gtT p.V433V THUMPD3_ENST00000452837.2_Silent_p.V433V|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.V433V NM_001114092.1|NM_015453.2 NP_001107564.1|NP_056268.2 Q9BV44 THUM3_HUMAN THUMP domain containing 3 433 methyltransferase activity|protein binding|RNA binding NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 19 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.101) TGAGCCGTGTCTGCACACCTA 0.463000 46 169 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99673256 99673256 + Nonsense_Mutation SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr15:99673256G>A ENST00000336292.6 + 5 4808 c.4688G>A c.(4687-4689)tGg>tAg p.W1563* SYNM_ENST00000328642.7_Nonsense_Mutation_p.W1251*|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Nonsense_Mutation_p.W966* NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 1564 Interaction with DMD and UTRN.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 GATGGGCATTGGTTTTAATAA 0.443000 4 26 0 0 1 0 0 NPIPB11 728888 broad.mit.edu 37 16 29415043 29415043 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr16:29415043G>A ENST00000524087.1 - 2 155 c.81C>T c.(79-81)caC>caT p.H27H SNX29P2_ENST00000398878.3_lincRNA nuclear pore complex interacting protein family, member B11 p.H27H(24) CTGACTTTACGTGCTGCTGCA 0.577000 3 17 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48451810 48451810 + Splice_Site SNP A A G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr15:48451810A>G ENST00000324324.7 - 6 996 c.717_splice c.e6+1 p.N239_splice MYEF2_ENST00000267836.6_Splice_Site_p.N239_splice NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 239 RRM 2. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TTGAACTTACATTGGCAACAA 0.318000 8 63 0 0 1 0 0 RALYL 138046 broad.mit.edu 37 8 85774569 85774569 + Missense_Mutation SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr8:85774569G>A ENST00000521268.1 + 6 1557 c.452G>A c.(451-453)cGt>cAt p.R151H RALYL_ENST00000521376.1_Missense_Mutation_p.R62H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H|RALYL_ENST00000517638.1_Missense_Mutation_p.R164H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H|RALYL_ENST00000522455.1_Missense_Mutation_p.R151H NM_173848.5 NP_776247.3 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like 151 identical protein binding|nucleotide binding|RNA binding endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1) 24 CCACCTCCCCGTGCAGTAATT 0.498000 5 20 0 0 1 0 0 ZNF496 84838 broad.mit.edu 37 1 247492824 247492824 + Missense_Mutation SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr1:247492824C>G ENST00000294753.4 - 3 521 c.57G>C c.(55-57)agG>agC p.R19S ZNF496_ENST00000366498.2_Missense_Mutation_p.R19S NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 19 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) TCCTCATTTTCCTGGGCTCCT 0.622000 18 93 0 0 1 0 0 ALX1 8092 broad.mit.edu 37 12 85674264 85674264 + Splice_Site SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr12:85674264C>T ENST00000316824.3 + 1 380 c.226_splice c.e1+1 p.S75_splice NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 75 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) AGGACAGCAGCGGTGAGTCGC 0.647000 4 33 0 0 1 0 0 PHF11 51131 broad.mit.edu 37 13 50092163 50092163 + Missense_Mutation SNP T T C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr13:50092163T>C ENST00000357596.3 + 5 493 c.217T>C c.(217-219)Ttt>Ctt p.F73L PHF11_ENST00000378319.3_Missense_Mutation_p.F112L|PHF11_ENST00000488958.1_Missense_Mutation_p.F73L NM_001040444.1 NP_001035534.1 Q9UIL8 PHF11_HUMAN PHD finger protein 11 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding large_intestine(3)|lung(1) 4 Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.38e-09) GAAATGCAAATTTTGTCATAA 0.333000 7 27 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31195651 31195651 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr16:31195651C>T ENST00000254108.7 + 5 562 c.457C>T c.(457-459)Cag>Tag p.Q153* FUS_ENST00000568685.1_Nonsense_Mutation_p.Q153*|FUS_ENST00000380244.3_Nonsense_Mutation_p.Q152* NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 153 Gln/Gly/Ser/Tyr-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding p.Q153*(1) FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) TAATCCCCCTCAGGGCTATGG 0.562000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 9 96 0 0 1 0 0 GPBP1L1 60313 broad.mit.edu 37 1 46120921 46120921 + Missense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr1:46120921C>T ENST00000355105.3 - 5 1491 c.131G>A c.(130-132)cGc>cAc p.R44H GPBP1L1_ENST00000290795.3_Missense_Mutation_p.R44H NM_021639.4 NP_067652.1 Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1-like 1 44 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding GPBP1L1/MAST2_ENST00000361297(2) breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1) 21 Acute lymphoblastic leukemia(166;0.155) ATGTCGACGGCGGCTTACTCC 0.458000 13 134 0 0 1 0 0 IMPG1 3617 broad.mit.edu 37 6 76640701 76640701 + Missense_Mutation SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr6:76640701C>G ENST00000369950.3 - 15 2401 c.2212G>C c.(2212-2214)Gag>Cag p.E738Q IMPG1_ENST00000369963.3_3'UTR NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 738 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TGGAGGACCTCGCATTCCTTT 0.547000 13 57 0 0 1 0 0 CCDC86 79080 broad.mit.edu 37 11 60610106 60610106 + Missense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr11:60610106C>T ENST00000227520.5 + 1 563 c.509C>T c.(508-510)cCc>cTc p.P170L RP11-804A23.2_ENST00000539897.1_RNA|RP11-804A23.4_ENST00000538705.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 170 Pro-rich. interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 CAGCAAGCTCCCGGTCCGGAG 0.682000 10 39 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77748593 77748593 + Missense_Mutation SNP T T A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr13:77748593T>A ENST00000407578.2 - 37 5770 c.5504A>T c.(5503-5505)aAc>aTc p.N1835I MYCBP2_ENST00000357337.6_Missense_Mutation_p.N1797I|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N1797I NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 1797 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) GCTTCCATAGTTCCTCAAGCG 0.403000 8 43 0 0 1 0 0 CUL9 23113 broad.mit.edu 37 6 43172776 43172776 + Missense_Mutation SNP C C T rs139277408 TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr6:43172776C>T ENST00000252050.4 + 23 4639 c.4555C>T c.(4555-4557)Cgg>Tgg p.R1519W CUL9_ENST00000372647.2_Missense_Mutation_p.R1519W|CUL9_ENST00000354495.3_Missense_Mutation_p.R1409W NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 1519 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GTTTGGGCCTCGGGCAGCCTT 0.602000 13 82 0 0 1 0 0 PPAT 5471 broad.mit.edu 37 4 57265456 57265456 + Silent SNP T T C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr4:57265456T>C ENST00000264220.2 - 9 1262 c.1125A>G c.(1123-1125)gtA>gtG p.V375V NM_002703.4 NP_002694.3 Q06203 PUR1_HUMAN phosphoribosyl pyrophosphate amidotransferase 375 glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process cytosol 4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 20 Glioma(25;0.08)|all_neural(26;0.101) L-Glutamine(DB00130)|Thioguanine(DB00352) TGTCTGACAATACTCCAAATT 0.373000 11 92 0 0 1 0 0 MRPL37 51253 broad.mit.edu 37 1 54675803 54675803 + Splice_Site SNP A A G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr1:54675803A>G ENST00000605337.1 + 4 879 c.832_splice c.e4+1 p.T277_splice MRPL37_ENST00000360840.5_Splice_Site_p.T277_splice|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000336230.6_Splice_Site_p.T146_splice Q9BZE1 RM37_HUMAN mitochondrial ribosomal protein L37 277 translation mitochondrial ribosome structural constituent of ribosome NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2) 19 AAAATGACACAGGTAAGGATC 0.403000 38 60 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19468230 19468230 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr16:19468230C>T ENST00000219821.5 + 1 459 c.202C>T c.(202-204)Cag>Tag p.Q68* TMC5_ENST00000561503.1_Intron|TMC5_ENST00000564959.1_Intron|TMC5_ENST00000542583.2_Intron|TMC5_ENST00000541464.1_Intron|TMC5_ENST00000396229.2_Intron|TMC5_ENST00000381414.4_Intron NM_024780.4 NP_079056.2 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 0 integral to membrane 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 AAAGGGTAACCAGGTGCTGCG 0.443000 10 53 0 0 1 0 0 RGS7BP 401190 broad.mit.edu 37 5 63871726 63871726 + Missense_Mutation SNP G G A rs151111266 TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr5:63871726G>A ENST00000334025.2 + 3 784 c.458G>A c.(457-459)cGa>cAa p.R153Q RGS7BP_ENST00000508162.1_3'UTR NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 153 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) CAGTTTCATCGAAAAGGTATC 0.398000 16 59 0 0 1 0 0 CXCL10 3627 broad.mit.edu 37 4 76943519 76943519 + Splice_Site SNP C C T rs1126857 TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr4:76943519C>T ENST00000306602.1 - 3 343 c.278_splice c.e3+1 p.R93_splice ART3_ENST00000341029.5_Intron NM_001565.3 NP_001556.2 P02778 CXL10_HUMAN chemokine (C-X-C motif) ligand 10 93 R -> M (in Ref. 1; CAA26370). blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation extracellular space cAMP-dependent protein kinase regulator activity|chemokine activity kidney(1)|large_intestine(1)|lung(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCAAACCTACCTTTCCTTGCT 0.418000 11 63 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81762901 81762901 + Nonsense_Mutation SNP C C A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr12:81762901C>A ENST00000550584.2 - 11 1634 c.1339G>T c.(1339-1341)Gaa>Taa p.E447* PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E294*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E447*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E373*|PPFIA2_ENST00000541570.2_Nonsense_Mutation_p.E14*|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E429*|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E348* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 373 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 CTTTGAAGTTCTTGATTCTTC 0.343000 4 14 0.00909568 0.00929781 1 1 0 INTS8 55656 broad.mit.edu 37 8 95862176 95862176 + Missense_Mutation SNP A A G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr8:95862176A>G ENST00000523731.1 + 12 1497 c.1364A>G c.(1363-1365)tAt>tGt p.Y455C INTS8_ENST00000447247.1_Missense_Mutation_p.Y455C NM_017864.2 NP_060334.2 Q75QN2 INT8_HUMAN integrator complex subunit 8 455 snRNA processing integrator complex protein binding breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 28 Breast(36;1.05e-06) GATCTGCAGTATGTTTTCATG 0.333000 9 61 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159655348 159655348 + Silent SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr6:159655348C>T ENST00000297267.9 + 11 4004 c.3804C>T c.(3802-3804)acC>acT p.T1268T FNDC1_ENST00000340366.6_Silent_p.T1205T NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1268 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCGCTGCCACCGTGAGCCCCG 0.726000 3 14 0 0 1 0 0 AMIGO3 386724 broad.mit.edu 37 3 49755534 49755534 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:49755534G>A ENST00000535833.1 - 10 4815 c.1365C>T c.(1363-1365)gtC>gtT p.V455V AMIGO3_ENST00000320431.7_Silent_p.V455V|RNF123_ENST00000433785.1_Intron|RNF123_ENST00000327697.6_Intron|GMPPB_ENST00000480687.1_3'UTR Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 455 heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTCCAGAAAGACTACGTGCT 0.637000 18 101 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110280353 110280353 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr1:110280353G>A ENST00000540225.1 - 7 703 c.393C>T c.(391-393)taC>taT p.Y131Y GSTM3_ENST00000256594.3_Silent_p.Y131Y|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000361066.2_Silent_p.Y131Y|GSTM3_ENST00000488824.1_5'UTR P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 131 GST C-terminal. establishment of blood-nerve barrier|glutathione metabolic process|response to estrogen stimulus cytoplasm glutathione transferase activity|identical protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1) 9 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) GCTCTTCCAAGTACTGAGGCT 0.438000 8 103 0 0 1 0 0 CLIC4 25932 broad.mit.edu 37 1 25166432 25166432 + Missense_Mutation SNP A A G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr1:25166432A>G ENST00000374379.4 + 5 694 c.497A>G c.(496-498)aAt>aGt p.N166S NM_013943.2 NP_039234.1 Q9Y696 CLIC4_HUMAN chloride intracellular channel 4 166 GST C-terminal. cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction voltage-gated chloride channel activity large_intestine(3)|lung(2)|skin(1) 6 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18) ATTGATGAAAATAGTATGGAG 0.418000 8 35 0 0 1 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22842162 22842162 + Missense_Mutation SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr15:22842162G>A ENST00000283645.4 + 6 731 c.601G>A c.(601-603)Gat>Aat p.D201N TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D201N NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 201 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CAGAAAACTGGATCCTTGTAT 0.403000 7 63 0 0 1 0 0 KRT85 3891 broad.mit.edu 37 12 52754648 52754648 + Missense_Mutation SNP G G T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr12:52754648G>T ENST00000257901.3 - 9 1588 c.1513C>A c.(1513-1515)Cgc>Agc p.R505S KRT85_ENST00000544265.1_Missense_Mutation_p.R293S NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 505 Tail. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TAGGCAAAGCGGACCGACCGG 0.612000 8 80 1.26484e-09 1.402e-09 1 1 0 ZNF106 64397 broad.mit.edu 37 15 42742071 42742071 + Missense_Mutation SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr15:42742071G>A ENST00000263805.4 - 2 2656 c.2330C>T c.(2329-2331)aCc>aTc p.T777I ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 CTGCCGTAGGGTTGGCTTGAG 0.502000 11 172 0 0 1 0 0 HOXC9 3225 broad.mit.edu 37 12 54394191 54394191 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr12:54394191G>A ENST00000303450.4 + 1 289 c.219G>A c.(217-219)tcG>tcA p.S73S HOXC9_ENST00000508190.1_Silent_p.S73S|HOXC9_ENST00000504557.1_Intron NM_006897.1 NP_008828.1 P31274 HXC9_HUMAN homeobox C9 73 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 14 CCTCTCAGTCGTCCGTGGTAT 0.677000 7 34 0 0 1 0 0 CDKL2 8999 broad.mit.edu 37 4 76529139 76529139 + Splice_Site SNP A A T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr4:76529139A>T ENST00000429927.2 - 6 1360 c.655_splice c.e6-1 p.G219_splice CDKL2_ENST00000307465.4_Splice_Site_p.G219_splice NM_003948.3 NP_003939.1 Q92772 CDKL2_HUMAN cyclin-dependent kinase-like 2 (CDC2-related kinase) 219 Protein kinase. sex differentiation|signal transduction cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2) 22 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GAATTAGATTACCTGGAAGTG 0.393000 10 57 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109028057 109028057 + Missense_Mutation SNP C C A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:109028057C>A ENST00000478945.1 - 4 548 c.302G>T c.(301-303)cGg>cTg p.R101L NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 101 SAP. nucleus nucleic acid binding p.R101L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACACCAGTCCCGCAAAGTGTC 0.453000 12 214 0.000978159 0.00102262 1 1 0 RBM39 9584 broad.mit.edu 37 20 34313042 34313042 + Missense_Mutation SNP T T A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr20:34313042T>A ENST00000361162.6 - 7 836 c.452A>T c.(451-453)gAt>gTt p.D151V RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.D151V|RBM39_ENST00000528062.3_Missense_Mutation_p.D129V NM_004902.3|NM_184234.2 NP_004893.1|NP_909122.1 Q14498 RBM39_HUMAN RNA binding motif protein 39 151 mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding p.D151V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TGTCCTTGCATCTCTTTCCTC 0.318000 13 78 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179325974 179325974 + Silent SNP T T C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr2:179325974T>C ENST00000409117.3 + 7 1388 c.1032T>C c.(1030-1032)ttT>ttC p.F344F DFNB59_ENST00000375129.4_Silent_p.F344F NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 344 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TTCCTTGTTTTGATATTTGGC 0.398000 23 113 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22145051 22145051 + Nonsense_Mutation SNP G G T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr8:22145051G>T ENST00000356766.6 + 7 902 c.754G>T c.(754-756)Gag>Tag p.E252* PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.E252*|PIWIL2_ENST00000454009.2_Nonsense_Mutation_p.E252* NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 252 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CCCCAATGTGGAGTGCAAAAG 0.453000 OREG0018608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 62 7.03913e-09 7.70952e-09 1 1 0 ST18 9705 broad.mit.edu 37 8 53079446 53079446 + Silent SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr8:53079446C>T ENST00000276480.7 - 11 1853 c.1170G>A c.(1168-1170)tcG>tcA p.S390S NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 390 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S390S(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGGGGCACCCCGAAAGGCTGC 0.562000 15 100 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 33 0.00909568 0.00929781 1 1 0 TENM2 57451 broad.mit.edu 37 5 167674211 167674211 + Missense_Mutation SNP T T A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr5:167674211T>A ENST00000519204.1 + 26 6022 c.5904T>A c.(5902-5904)ttT>ttA p.F1968L TENM2_ENST00000520394.1_Missense_Mutation_p.F1850L|TENM2_ENST00000518659.1_Missense_Mutation_p.F2089L|TENM2_ENST00000403607.2_Missense_Mutation_p.F1913L|TENM2_ENST00000545108.1_Missense_Mutation_p.F2088L teneurin transmembrane protein 2 ATGCCAGGTTTGACTACACCT 0.542000 26 85 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170204107 170204107 + Silent SNP G G T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:170204107G>T ENST00000231706.4 - 5 1125 c.810C>A c.(808-810)atC>atA p.I270I CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 270 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) TGGTGGCGATGATGTCAAAGC 0.517000 10 64 9.70103e-10 1.08841e-09 1 1 0 NOTCH1 4851 broad.mit.edu 37 9 139404293 139404293 + Missense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr9:139404293C>T ENST00000277541.6 - 18 2936 c.2861G>A c.(2860-2862)tGc>tAc p.C954Y NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 954 EGF-like 25; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCCGTTGCGGCAGGGGTCACT 0.637000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 13 86 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49699836 49699836 + Missense_Mutation SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:49699836C>G ENST00000296452.4 + 6 10672 c.10558C>G c.(10558-10560)Ccc>Gcc p.P3520A NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 3520 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) TGCCGGAGGGCCCCTCCCTCC 0.672000 4 35 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6935880 6935880 + Silent SNP A A T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr12:6935880A>T ENST00000311268.3 + 5 2065 c.1278A>T c.(1276-1278)ccA>ccT p.P426P GPR162_ENST00000428545.2_Silent_p.P142P|GPR162_ENST00000382315.3_Silent_p.P122P NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 426 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 CTCGGGAACCAGGCTCCTTCC 0.612000 18 129 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37368782 37368782 + Silent SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr19:37368782C>G ENST00000529555.1 + 2 1838 c.1050C>G c.(1048-1050)acC>acG p.T350T ZNF345_ENST00000420450.1_Silent_p.T350T|ZNF345_ENST00000589046.1_Silent_p.T350T|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron Q14585 ZN345_HUMAN zinc finger protein 345 350 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GTGGGAAGACCTTTAGTAGTG 0.408000 8 54 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99934388 99934388 + Missense_Mutation SNP T T C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chrX:99934388T>C ENST00000455616.1 - 16 1926 c.1580A>G c.(1579-1581)gAg>gGg p.E527G SYTL4_ENST00000263033.5_Missense_Mutation_p.E527G|SYTL4_ENST00000454200.2_Missense_Mutation_p.E529G|SYTL4_ENST00000276141.6_Missense_Mutation_p.E527G|SYTL4_ENST00000372989.1_Missense_Mutation_p.E527G Q96C24 SYTL4_HUMAN synaptotagmin-like 4 527 C2 2. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CACCTGGAGCTCTCCCCCTTC 0.522000 6 22 0 0 1 0 0 CD70 970 broad.mit.edu 37 19 6586202 6586202 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr19:6586202G>A ENST00000245903.3 - 3 560 c.411C>T c.(409-411)tcC>tcT p.S137S CD70_ENST00000423145.3_Silent_p.S137S NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 137 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 TGATGCTACGGGAGGCGGGAG 0.652000 10 49 0 0 1 0 0 MSH2 4436 broad.mit.edu 37 2 47705433 47705433 + Missense_Mutation SNP A A G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr2:47705433A>G ENST00000406134.1 + 14 2295 c.2233A>G c.(2233-2235)Ata>Gta p.I745V MSH2_ENST00000543555.1_Missense_Mutation_p.I679V|MSH2_ENST00000233146.2_Missense_Mutation_p.I745V P43246 MSH2_HUMAN mutS homolog 2 745 Missing (in HNPCC1; mainly causes defects in mismatch binding or release efficiency). B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATTCATTAATAATCATAGA 0.338000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 11 111 0 0 1 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182873476 182873476 + Missense_Mutation SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr1:182873476G>A ENST00000367547.3 - 8 1662 c.1426C>T c.(1426-1428)Cat>Tat p.H476Y SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.H357Y NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 548 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 AAAGATAGATGCATTAGTTTC 0.408000 10 82 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653389 159653389 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr6:159653389G>A ENST00000297267.9 + 11 2045 c.1845G>A c.(1843-1845)tcG>tcA p.S615S FNDC1_ENST00000340366.6_Silent_p.S552S NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 615 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGCCCCCCTCGGCTTCGGCCT 0.677000 13 43 0 0 1 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 4 42 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937025 33937025 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr5:33937025G>A ENST00000330120.3 + 1 535 c.180G>A c.(178-180)gcG>gcA p.A60A NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 60 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CGGACGGCGCGCCGCCAGGAC 0.701000 18 105 0 0 1 0 0 SDHAP1 255812 broad.mit.edu 37 3 195701304 195701304 + RNA SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:195701304C>T ENST00000427841.1 - 0 1520 NR_003264.2 AGGGCACATGCCTGACCAGAC 0.572000 7 47 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65744400 65744400 + Missense_Mutation SNP T T C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr15:65744400T>C ENST00000341861.5 - 18 3940 c.2360A>G c.(2359-2361)tAt>tGt p.Y787C DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000358939.4_Missense_Mutation_p.Y671C|DPP8_ENST00000559233.1_Missense_Mutation_p.Y787C|DPP8_ENST00000339244.5_Missense_Mutation_p.Y614C|DPP8_ENST00000321147.6_Missense_Mutation_p.Y736C|DPP8_ENST00000321118.7_Missense_Mutation_p.Y738C|DPP8_ENST00000300141.6_Missense_Mutation_p.Y771C NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 787 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TCCTGTATCATAGAAGATCCA 0.478000 25 108 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110501478 110501478 + Missense_Mutation SNP G G C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr11:110501478G>C ENST00000260283.4 - 4 510 c.226C>G c.(226-228)Ctg>Gtg p.L76V ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L53V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L40V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L40V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L50V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L50V NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 76 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AATGATGACAGAAATGTGCAT 0.458000 7 70 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76111982 76111982 + Silent SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr7:76111982C>T ENST00000324432.5 + 5 936 c.426C>T c.(424-426)ctC>ctT p.L142L DTX2_ENST00000446820.2_Silent_p.L142L|DTX2_ENST00000430490.2_Silent_p.L142L|DTX2_ENST00000446600.1_Silent_p.L51L|DTX2_ENST00000307569.8_Silent_p.L142L|DTX2_ENST00000413936.2_Silent_p.L142L NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 142 WWE 2. Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 GCAACCAGCTCGTGGACTTGG 0.617000 4 36 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218682872 218682872 + Missense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr2:218682872C>T ENST00000171887.4 - 24 4323 c.3871G>A c.(3871-3873)Gca>Aca p.A1291T TNS1_ENST00000419504.1_Missense_Mutation_p.A1278T|TNS1_ENST00000430930.1_Missense_Mutation_p.A1270T NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1291 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CTGGCTATTGCATTGCTATGA 0.667000 4 24 0 0 1 0 0 PPARD 5467 broad.mit.edu 37 6 35392181 35392181 + Missense_Mutation SNP C C A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr6:35392181C>A ENST00000311565.4 + 8 1052 c.703C>A c.(703-705)Ctg>Atg p.L235M PPARD_ENST00000360694.3_Missense_Mutation_p.L235M|PPARD_ENST00000337400.2_Missense_Mutation_p.L235M|PPARD_ENST00000448077.2_Missense_Mutation_p.L196M|PPARD_ENST00000540939.1_Missense_Mutation_p.L132M|PPARD_ENST00000418635.2_Missense_Mutation_p.L137M|PPARD_ENST00000444397.1_Missense_Mutation_p.L235M NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 235 apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) GGTGAATGGCCTGCCTCCCTA 0.582000 17 51 1.67942e-08 1.81772e-08 1 1 0 DHDDS 79947 broad.mit.edu 37 1 26784352 26784352 + Silent SNP C C A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr1:26784352C>A ENST00000360009.2 + 7 690 c.613C>A c.(613-615)Cgg>Agg p.R205R DHDDS_ENST00000526219.1_Silent_p.R166R|DHDDS_ENST00000236342.7_Silent_p.R205R|DHDDS_ENST00000525682.2_Silent_p.R171R NM_024887.3|NM_205861.2 NP_079163.2|NP_995583.1 Q86SQ9 DHDDS_HUMAN dehydrodolichyl diphosphate synthase 205 protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 15 all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239) CATCTTGATACGGACTTCTGG 0.453000 19 78 1.96292e-10 2.22949e-10 1 1 0 SLC25A30 253512 broad.mit.edu 37 13 45973119 45973119 + Missense_Mutation SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr13:45973119C>G ENST00000539591.1 - 7 719 c.556G>C c.(556-558)Ggc>Cgc p.G186R Q5SVS4 KMCP1_HUMAN solute carrier family 25, member 30 237 mitochondrial transport integral to membrane|mitochondrial inner membrane binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.95e-05) GAACATCTGCCATCTCGAAGC 0.463000 12 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577073 179577073 + Silent SNP T T C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr2:179577073T>C ENST00000589042.1 - 95 27800 c.27576A>G c.(27574-27576)aaA>aaG p.K9192K TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K8875K|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.K7948K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8875 Ig-like 75. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACAGGAATCTTTTCCAGAGG 0.383000 14 176 0 0 1 0 0 UROC1 131669 broad.mit.edu 37 3 126208138 126208138 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:126208138G>A ENST00000290868.2 - 17 1742 c.1689C>T c.(1687-1689)gaC>gaT p.D563D UROC1_ENST00000383579.3_Silent_p.D623D NM_144639.2 NP_653240.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 563 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) AGGCAGAGCCGTCGTAAATGT 0.478000 19 129 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784798 82784798 + Missense_Mutation SNP C C A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr7:82784798C>A ENST00000423517.2 - 2 1496 c.1159G>T c.(1159-1161)Ggg>Tgg p.G387W PCLO_ENST00000333891.8_Missense_Mutation_p.G387W NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 341 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCCTTTGGCCCAGGCTGCTCC 0.597000 12 58 1.08611e-07 1.16188e-07 1 1 0 ATP11B 23200 broad.mit.edu 37 3 182616474 182616474 + Missense_Mutation SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:182616474C>G ENST00000323116.5 + 28 3492 c.3232C>G c.(3232-3234)Ctc>Gtc p.L1078V NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1078 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TGCCATAATCCTCATGGTTGT 0.403000 15 64 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37199427 37199427 + Nonsense_Mutation SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr20:37199427C>G ENST00000262879.6 + 28 4363 c.4079C>G c.(4078-4080)tCa>tGa p.S1360* RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.S1357*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.S1360*|RALGAPB_ENST00000397038.1_Nonsense_Mutation_p.S1139* Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 1360 Rap-GAP. activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TTTCCCCTCTCAGAGCTGATG 0.368000 6 37 0 0 1 0 0 SSPN 8082 broad.mit.edu 37 12 26383752 26383752 + Missense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr12:26383752C>T ENST00000242729.2 + 3 652 c.475C>T c.(475-477)Ctc>Ttc p.L159F SSPN_ENST00000535504.1_Intron|RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.L56F|SSPN_ENST00000540266.1_Missense_Mutation_p.L56F NM_005086.4 NP_005077.2 Q14714 SSPN_HUMAN sarcospan 159 cell adhesion|muscle contraction cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 Colorectal(261;0.0847) TGAGACCACACTCGACTCTTG 0.587000 6 61 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372346 126372346 + Missense_Mutation SNP A A T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr4:126372346A>T ENST00000394329.3 + 9 10188 c.10175A>T c.(10174-10176)aAt>aTt p.N3392I FAT4_ENST00000335110.5_Missense_Mutation_p.N1690I NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3392 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GTCACTGTAAATGTCACCGTG 0.428000 13 174 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82784795 82784795 + Missense_Mutation SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr7:82784795G>A ENST00000423517.2 - 2 1499 c.1162C>T c.(1162-1164)Cca>Tca p.P388S PCLO_ENST00000333891.8_Missense_Mutation_p.P388S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 341 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAAGCCTTTGGCCCAGGCTGC 0.597000 11 60 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153026600 153026600 + Silent SNP G G A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr5:153026600G>A ENST00000285900.5 + 3 676 c.333G>A c.(331-333)ccG>ccA p.P111P GRIA1_ENST00000518783.1_Silent_p.P121P|GRIA1_ENST00000340592.5_Silent_p.P111P|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000448073.4_Silent_p.P121P|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.P42P NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 111 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TCATTACGCCGAGCTTTCCCG 0.493000 29 93 0 0 1 0 0 GRIP1 23426 broad.mit.edu 37 12 66788001 66788001 + Missense_Mutation SNP C C G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr12:66788001C>G ENST00000359742.4 - 17 2356 c.2116G>C c.(2116-2118)Gga>Cga p.G706R GRIP1_ENST00000398016.3_Missense_Mutation_p.G654R|GRIP1_ENST00000286445.7_Missense_Mutation_p.G706R Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 706 PDZ 6. androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1) 50 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCAGCTAATCCCCCTTTAGTG 0.453000 10 173 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7348235 7348235 + Missense_Mutation SNP G G C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr3:7348235G>C ENST00000486284.1 + 4 1203 c.929G>C c.(928-930)tGg>tCg p.W310S GRM7_ENST00000402647.2_Missense_Mutation_p.W310S|GRM7_ENST00000357716.4_Missense_Mutation_p.W310S|GRM7_ENST00000403881.1_Missense_Mutation_p.W310S|GRM7_ENST00000389336.4_Missense_Mutation_p.W310S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 310 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) CATTTTCTTTGGGTGGGATCA 0.483000 16 70 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899957 112899957 + Silent SNP G G C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr9:112899957G>C ENST00000374530.3 + 8 2313 c.2133G>C c.(2131-2133)gtG>gtC p.V711V AKAP2_ENST00000374525.1_Silent_p.V569V|AKAP2_ENST00000259318.7_Silent_p.V480V|AKAP2_ENST00000555236.1_Silent_p.V711V|PALM2-AKAP2_ENST00000302798.7_Silent_p.V711V|AKAP2_ENST00000510514.5_Silent_p.V711V|AKAP2_ENST00000434623.2_Silent_p.V569V NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 480 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AATTGTCGGTGAGGTCTCAGG 0.498000 10 139 0 0 1 0 0 SEC24D 9871 broad.mit.edu 37 4 119745869 119745869 + Missense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr4:119745869C>T ENST00000379735.5 - 3 425 c.154G>A c.(154-156)Gcc>Acc p.A52T SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.A52T NM_014822.2 NP_055637.2 O94855 SC24D_HUMAN SEC24 family member D 52 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 CCCCTAGTGGCGGTGGCCCCC 0.542000 13 121 0 0 1 0 0 KNOP1 400506 broad.mit.edu 37 16 19726274 19726274 + Silent SNP T T C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr16:19726274T>C ENST00000219837.7 - 2 162 c.84A>G c.(82-84)cgA>cgG p.R28R AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 AAACTGAGTATCGAGTCTCTG 0.433000 11 104 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81660621 81660621 + Silent SNP G G C TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr15:81660621G>C ENST00000558726.1 - 3 420 c.285C>G c.(283-285)acC>acG p.T95T TMC3_ENST00000359440.5_Silent_p.T95T Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 95 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 GGTAGCCTCGGGTCCTGGTCA 0.498000 13 117 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123982927 123982927 + Missense_Mutation SNP C C A TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr5:123982927C>A ENST00000306315.5 - 4 3585 c.3150G>T c.(3148-3150)aaG>aaT p.K1050N ZNF608_ENST00000504926.1_Missense_Mutation_p.K623N NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1050 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) GGTCCACTTTCTTAGAATCTA 0.478000 27 62 2.48779e-11 2.86096e-11 1 1 0 CEP192 55125 broad.mit.edu 37 18 13056171 13056171 + Missense_Mutation SNP T T G TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr18:13056171T>G ENST00000506447.1 + 19 3662 c.3582T>G c.(3580-3582)gaT>gaG p.D1194E CEP192_ENST00000430049.2_Missense_Mutation_p.D719E|CEP192_ENST00000325971.8_Missense_Mutation_p.D598E NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 789 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 AGCCTATAGATGAAGATCAAA 0.517000 5 54 0 0 1 0 0 GGCX 2677 broad.mit.edu 37 2 85778056 85778056 + Frame_Shift_Del DEL T T - TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr2:85778056delT ENST00000233838.3 - 13 1960 c.1880delA c.(1879-1881)atfs p.N627fs GGCX_ENST00000430215.3_Frame_Shift_Del_p.N570fs NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 627 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) ACCACTTCCATTCTCCACCTT 0.433 13 114 --- --- --- --- CNPY3 10695 broad.mit.edu 37 6 42897358 42897360 + In_Frame_Del DEL TGC TGC - TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr6:42897358_42897360delTGC ENST00000372836.4 + 1 421_423 c.50_52delTGC c.(49-54)ttg>t p.LL23del CNPY3_ENST00000394142.3_In_Frame_Del_p.LL23del NM_006586.3 NP_006577.2 Q9BT09 CNPY3_HUMAN canopy FGF signaling regulator 3 23 innate immune response endoplasmic reticulum p.L25delL(1) central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1) 6 Colorectal(47;0.196) all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CTTCTTCCCTtgctgctgctgct 0.695 2 4 --- --- --- --- VPS13A 23230 broad.mit.edu 37 9 79984283 79984283 + Frame_Shift_Del DEL A A - TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr9:79984283delA ENST00000360280.3 + 63 8882 c.8622delA c.(8620-8622)agfs p.R2874fs VPS13A_ENST00000376634.4_Frame_Shift_Del_p.R2874fs|VPS13A_ENST00000376636.3_Frame_Shift_Del_p.R2835fs|VPS13A_ENST00000357409.5_Frame_Shift_Del_p.R2874fs NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2874 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCTTAATTAGAGAATTTTCTG 0.294 7 113 --- --- --- --- SPRY2 10253 broad.mit.edu 37 13 80911675 80911676 + Frame_Shift_Ins INS - - GA TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr13:80911675_80911676insGA ENST00000377102.1 - 2 1142_1143 c.165_166insTC c.(163-168)tacagafs p.R56fs SPRY2_ENST00000377104.3_Frame_Shift_Ins_p.R56fs|SPRY2_ENST00000540649.1_Frame_Shift_Ins_p.R56fs O43597 SPY2_HUMAN sprouty homolog 2 (Drosophila) 56 epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade cytosol|microtubule|ruffle membrane protein serine/threonine kinase activator activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 12 Medulloblastoma(90;0.18) Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244) GBM - Glioblastoma multiforme(99;0.0318) GGCCCCTCTGTGTACTCATTGG 0.609 22 90 --- --- --- --- GCH1 2643 broad.mit.edu 37 14 55369235 55369235 + Frame_Shift_Del DEL G G - TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr14:55369235delG ENST00000491895.2 - 1 335 c.147delC c.(145-147)ccfs p.P49fs GCH1_ENST00000395514.1_Frame_Shift_Del_p.P49fs|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Frame_Shift_Del_p.P49fs|GCH1_ENST00000543643.2_Frame_Shift_Del_p.P49fs NM_000161.2 NP_000152.1 P30793 GCH1_HUMAN GTP cyclohydrolase 1 49 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding endometrium(2)|lung(7)|skin(2) 11 AGCCGTCCGCGGGCTGCGCGC 0.736 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077916 32077917 + RNA INS - - TTT rs139112308 by1000genomes TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr16:32077916_32077917insTTT ENST00000566806.1 - 0 499 ATGGAAAACGGTTATTTTTTTG 0.421 4 6 --- --- --- --- PKD1L2 114780 broad.mit.edu 37 16 81183625 81183628 + RNA DEL TTTT TTTT - rs11296516 TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5abdc40a-bb7d-4bb0-a2e4-df796caea7e5 17fbe3a3-6001-42f9-af9c-9427f8a4ae42 g.chr16:81183625_81183628delTTTT ENST00000533478.1 - 0 2609 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TTGTTCACACtttttttttttttt 0.466 2 4 --- --- --- ---