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 STRN 6801 broad.mit.edu 37 2 37121047 37121047 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:37121047C>T ENST00000263918.4 - 7 933 c.925G>A c.(925-927)Gac>Aac p.D309N STRN_ENST00000379213.2_Missense_Mutation_p.D297N NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 309 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) TTACCCCAGTCTGTTCCATCG 0.388000 29 104 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227237 28227237 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:28227237C>A ENST00000343684.3 + 1 140 c.88C>A c.(88-90)Ccg>Acg p.P30T NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 30 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 CCCACCATCCCCGCAGAGCAG 0.662000 18 47 5.3912e-06 5.5524e-06 1 1 0 RAB42 115273 broad.mit.edu 37 1 28920610 28920610 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:28920610C>A ENST00000373826.3 + 2 605 c.299C>A c.(298-300)tCa>tAa p.S100* TAF12_ENST00000471683.1_Intron|RAB42_ENST00000465518.1_3'UTR NM_152304.1 NP_689517.1 Q8N4Z0 RAB42_HUMAN RAB42, member RAS oncogene family 100 small GTPase mediated signal transduction membrane GTP binding breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00618)|all_lung(284;0.00909)|Breast(348;0.0249)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0577)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00298)|KIRC - Kidney renal clear cell carcinoma(1967;0.00948)|BRCA - Breast invasive adenocarcinoma(304;0.0213)|READ - Rectum adenocarcinoma(331;0.0649) AAGCAGCACTCAGGCCCATGC 0.592000 9 32 1.08611e-07 1.13876e-07 1 1 0 GRWD1 83743 broad.mit.edu 37 19 48956281 48956281 + Nonstop_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:48956281G>C ENST00000253237.5 + 7 1573 c.1340G>C c.(1339-1341)tGa>tCa p.*447S NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 0 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) ATCAGCGTCTGAGGCGTCCCA 0.602000 18 62 0 0 1 0 0 IFT46 56912 broad.mit.edu 37 11 118428457 118428457 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:118428457C>G ENST00000264020.2 - 4 571 c.194G>C c.(193-195)aGa>aCa p.R65T IFT46_ENST00000264021.3_Intron|IFT46_ENST00000530872.1_Missense_Mutation_p.R65T NM_020153.3 NP_064538.3 Q9NQC8 IFT46_HUMAN intraflagellar transport 46 homolog (Chlamydomonas) 15 flagellum assembly|intraflagellar transport|protein stabilization microtubule basal body|microtubule-based flagellum|nucleus protein C-terminus binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 9 ACCTACCTTTCTGTGCTTCTG 0.453000 75 15 0 0 1 0 0 C9orf40 55071 broad.mit.edu 37 9 77567322 77567322 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:77567322G>A ENST00000376854.5 - 1 480 c.206C>T c.(205-207)tCg>tTg p.S69L NM_017998.2 NP_060468.2 Q8IXQ3 CI040_HUMAN chromosome 9 open reading frame 40 69 lung(2)|stomach(1) 3 CTTGCTGGGCGAAGCCGAGGG 0.726000 4 0 0 0 1 0 0 AES 166 broad.mit.edu 37 19 3061215 3061215 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:3061215G>C ENST00000221561.8 - 2 448 c.269C>G c.(268-270)tCg>tGg p.S90W AES_ENST00000586839.1_5'UTR|AES_ENST00000592330.1_5'UTR|AES_ENST00000327141.4_Missense_Mutation_p.S23W NM_198969.1 NP_945320.1 Q08117 AES_HUMAN amino-terminal enhancer of split 23 Gln-rich (Q domain). negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription corepressor activity lung(8) 8 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGGAGTCCGAGGTGGTGAA 0.642000 12 211 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74040782 74040782 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:74040782C>G ENST00000409561.1 + 2 397 c.276C>G c.(274-276)ctC>ctG p.L92L NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 92 Ser-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TCCAGCCACTCATGGGCAGTG 0.532000 14 55 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134618796 134618796 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:134618796G>C ENST00000361675.2 + 5 1505 c.1276G>C c.(1276-1278)Gat>Cat p.D426H CALD1_ENST00000361388.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000495522.1_Intron Q05682 CALD1_HUMAN caldesmon 1 426 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 AGCACAAGAAGATAAACTTCA 0.368000 4 97 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14389481 14389481 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:14389481G>T ENST00000344204.4 + 25 4056 c.4032G>T c.(4030-4032)atG>atT p.M1344I TRIO_ENST00000537187.1_Missense_Mutation_p.M1344I|TRIO_ENST00000509967.2_Missense_Mutation_p.M1295I NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1344 DH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) TCGGAAACATGCAAGAAATCT 0.428000 4 66 0.00909568 0.00913497 1 1 0 ACACB 32 broad.mit.edu 37 12 109629436 109629436 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:109629436G>C ENST00000338432.7 + 14 2282 c.2163G>C c.(2161-2163)ttG>ttC p.L721F ACACB_ENST00000377854.5_Missense_Mutation_p.L721F|ACACB_ENST00000377848.3_Missense_Mutation_p.L721F O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 721 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TGGTGGCTTTGAAGGAACTGT 0.478000 24 63 0 0 1 0 0 TBCB 1155 broad.mit.edu 37 19 36606495 36606495 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:36606495G>A ENST00000221855.3 + 1 608 c.33G>A c.(31-33)gtG>gtA p.V11V TBCB_ENST00000589996.1_Silent_p.V11V|TBCB_ENST00000392178.4_3'UTR NM_001281.2 NP_001272.2 Q99426 TBCB_HUMAN tubulin folding cofactor B 11 'de novo' posttranslational protein folding|cell differentiation|nervous system development cytoplasm|microtubule protein binding large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CACCCACGGTGACCGTTTTCA 0.687000 16 12 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15467873 15467873 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrY:15467873C>G ENST00000331397.4 - 14 2311 c.1304G>C c.(1303-1305)aGa>aCa p.R435T UTY_ENST00000382896.4_Missense_Mutation_p.R480T|UTY_ENST00000538878.1_Missense_Mutation_p.R402T|UTY_ENST00000540140.1_Missense_Mutation_p.R432T|UTY_ENST00000362096.4_Missense_Mutation_p.R435T|UTY_ENST00000329134.5_Missense_Mutation_p.R435T|UTY_ENST00000537580.1_Missense_Mutation_p.R480T|UTY_ENST00000545955.1_Missense_Mutation_p.R510T NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 435 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 TAAATTATCTCTATTTGCTCG 0.299000 14 2 0 0 1 0 0 FAM49A 81553 broad.mit.edu 37 2 16742492 16742492 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:16742492G>T ENST00000381323.3 - 8 787 c.567C>A c.(565-567)ttC>ttA p.F189L FAM49A_ENST00000406434.1_Missense_Mutation_p.F189L|FAM49A_ENST00000355549.2_Missense_Mutation_p.F189L NM_030797.3 NP_110424.1 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 189 intracellular breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) CTTCTGCATAGAAGAGGGACA 0.398000 50 40 1.35964e-18 1.46012e-18 1 1 0 FAT4 79633 broad.mit.edu 37 4 126241768 126241768 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:126241768C>T ENST00000394329.3 + 1 4215 c.4202C>T c.(4201-4203)tCa>tTa p.S1401L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1401 Cadherin 13. 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 CCTCCTCGTTCATCTACAATG 0.378000 11 204 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44271757 44271757 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:44271757C>A ENST00000262888.3 - 8 1617 c.1222G>T c.(1222-1224)Gag>Tag p.E408* NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 408 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) CTAAGCAGCTCAGTCAGGGCA 0.612000 10 64 2.74318e-10 2.89904e-10 1 1 0 IFT81 28981 broad.mit.edu 37 12 110600732 110600732 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:110600732C>G ENST00000242591.5 + 11 1556 c.1050C>G c.(1048-1050)atC>atG p.I350M IFT81_ENST00000361948.4_Missense_Mutation_p.I350M|IFT81_ENST00000549009.1_3'UTR|IFT81_ENST00000552912.1_Missense_Mutation_p.I350M NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 350 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 AGGCATCTATCATTTCCCGTA 0.353000 30 22 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918445 39918445 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:39918445G>A ENST00000337304.2 + 2 1776 c.894G>A c.(892-894)aaG>aaA p.K298K ATF4_ENST00000404241.2_Silent_p.K298K|ATF4_ENST00000396680.1_Silent_p.K298K NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 298 cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) ACCGCCAGAAGAAGAGGGCGG 0.498000 4 14 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149420826 149420826 + Splice_Site SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:149420826G>A ENST00000255992.10 + 8 1173 c.774G>A c.(772-774)gtG>gtA p.V258V KRBA1_ENST00000319551.8_Splice_Site_p.V258V|KRBA1_ENST00000485033.2_Splice_Site_p.V258V|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 258 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TTTCCTTAGTGAAGACCGAGG 0.557000 19 7 0 0 1 0 0 DPH1 1801 broad.mit.edu 37 17 1943809 1943809 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:1943809C>T ENST00000263083.6 + 9 977 c.932C>T c.(931-933)tCt>tTt p.S311F DPH1_ENST00000570477.1_Missense_Mutation_p.S231F NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 311 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 CACCTGGAATCTCGACTCCGA 0.567000 55 10 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14485245 14485245 + Nonsense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:14485245G>T ENST00000454876.2 + 3 432 c.103G>T c.(103-105)Gag>Tag p.E35* SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000416216.2_Nonsense_Mutation_p.E35*|SLC6A6_ENST00000360861.3_Nonsense_Mutation_p.E35* P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 35 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 GGACGAGGCTGAGGGAAAACC 0.602000 47 74 3.21987e-24 3.48195e-24 1 1 0 ADRB1 153 broad.mit.edu 37 10 115804639 115804639 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:115804639G>A ENST00000369295.2 + 1 834 c.748G>A c.(748-750)Gag>Aag p.E250K NM_000684.2 NP_000675.1 P08588 ADRB1_HUMAN adrenoceptor beta 1 250 positive regulation of cAMP biosynthetic process integral to plasma membrane alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity large_intestine(4)|lung(1)|upper_aerodigestive_tract(1) 6 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0124)|all cancers(201;0.0298) Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246) GGTGTTCCGCGAGGCCCAGAA 0.692000 6 49 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154228167 154228167 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:154228167C>G ENST00000428931.1 + 18 2260 c.2093C>G c.(2092-2094)tCt>tGt p.S698C UBAP2L_ENST00000271877.7_Missense_Mutation_p.S709C|UBAP2L_ENST00000361546.2_Missense_Mutation_p.S698C|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S698C NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 698 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCACGTTATCTACGCAGCAG 0.438000 10 109 0 0 1 0 0 SPA17 53340 broad.mit.edu 37 11 124564208 124564208 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:124564208G>A ENST00000532692.1 + 4 1743 c.322G>A c.(322-324)Gag>Aag p.E108K SPA17_ENST00000227135.2_Missense_Mutation_p.E108K|SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000524614.1_3'UTR Q15506 SP17_HUMAN sperm autoantigenic protein 17 108 binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2) 5 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) GGACTCTTCTGAGGAAGATAA 0.378000 4 93 0 0 1 0 0 ATF4 468 broad.mit.edu 37 22 39918557 39918557 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:39918557G>T ENST00000337304.2 + 2 1888 c.1006G>T c.(1006-1008)Gat>Tat p.D336Y ATF4_ENST00000404241.2_Missense_Mutation_p.D336Y|ATF4_ENST00000396680.1_Missense_Mutation_p.D336Y NM_001675.2 NP_001666.2 P18848 ATF4_HUMAN activating transcription factor 4 336 Interaction with GABBR1 (By similarity). cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter cytoplasm|plasma membrane protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 11 Melanoma(58;0.04) GTACCTGAAAGATTTGATAGA 0.507000 4 21 2.0095e-06 2.07879e-06 1 1 0 PHOSPHO1 162466 broad.mit.edu 37 17 47302319 47302319 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:47302319G>A ENST00000413580.1 - 3 585 c.168C>T c.(166-168)ttC>ttT p.F56F PHOSPHO1_ENST00000310544.4_Silent_p.F31F|PHOSPHO1_ENST00000514112.1_Silent_p.F56F NM_001143804.1|NM_178500.3 NP_001137276.1|NP_848595.1 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 31 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) CGTCGAAGTCGAAGGTCAGGA 0.701000 4 1 0 0 1 0 0 TTLL3 26140 broad.mit.edu 37 3 9876587 9876587 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:9876587G>C ENST00000547186.1 + 12 2135 c.1919G>C c.(1918-1920)aGa>aCa p.R640T TTLL3_ENST00000397241.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000426895.4_Missense_Mutation_p.R783T|TTLL3_ENST00000383827.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.R428T NM_001025930.3 NP_001021100.3 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 640 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 Medulloblastoma(99;0.227) CTGAAGCCAAGAAAGGTGGGC 0.612000 30 39 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38785138 38785138 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:38785138C>G ENST00000348513.6 - 11 1915 c.1135G>C c.(1135-1137)Gag>Cag p.E379Q KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.E344Q|SMARCE1_ENST00000578044.1_Missense_Mutation_p.E309Q|SMARCE1_ENST00000400122.3_3'UTR|SMARCE1_ENST00000544009.1_Missense_Mutation_p.E309Q|SMARCE1_ENST00000431889.2_Missense_Mutation_p.E361Q|SMARCE1_ENST00000377808.4_3'UTR NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 379 Glu-rich. chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) GTTCCTTCCTCTGCCATACTG 0.502000 5 149 0 0 1 0 0 EMP2 2013 broad.mit.edu 37 16 10637430 10637430 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:10637430G>A ENST00000359543.3 - 3 375 c.166C>T c.(166-168)Caa>Taa p.Q56* EMP2_ENST00000536829.1_Nonsense_Mutation_p.Q56* NM_001424.4 NP_001415.1 P54851 EMP2_HUMAN epithelial membrane protein 2 56 cell proliferation integral to membrane NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 CACTTACCTTGAAAGCTGTCA 0.493000 6 131 0 0 1 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18195142 18195142 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:18195142G>A ENST00000314254.3 + 1 759 c.339G>A c.(337-339)ctG>ctA p.L113L RP11-113D6.6_ENST00000527671.1_Intron NM_054032.3 NP_473373.2 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 113 integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 TGAGTATGCTGAGCGCCATCA 0.552000 5 123 0 0 1 0 0 C4BPB 725 broad.mit.edu 37 1 207273241 207273241 + Silent SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:207273241G>T ENST00000243611.5 + 6 1020 c.726G>T c.(724-726)ctG>ctT p.L242L C4BPB_ENST00000391923.1_Silent_p.L242L|C4BPB_ENST00000367076.3_Silent_p.L241L|C4BPB_ENST00000367078.3_Silent_p.L242L|C4BPB_ENST00000470767.1_3'UTR NM_000716.3 NP_000707.1 P20851 C4BPB_HUMAN complement component 4 binding protein, beta 242 blood coagulation|complement activation, classical pathway|innate immune response extracellular region breast(2)|lung(1)|ovary(1) 4 CTCTGGAGCTGAAGAAAGCTG 0.373000 45 66 3.86236e-30 4.19626e-30 1 1 0 NR2C2 7182 broad.mit.edu 37 3 15071874 15071874 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:15071874G>A ENST00000425241.1 + 9 1387 c.1025G>A c.(1024-1026)aGc>aAc p.S342N NR2C2_ENST00000323373.6_Missense_Mutation_p.S361N|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000406272.2_Missense_Mutation_p.S342N|NR2C2_ENST00000393102.3_Missense_Mutation_p.S342N P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 342 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGAGGAGGGAGCATCCACGTC 0.507000 32 142 0 0 1 0 0 QPRT 23475 broad.mit.edu 37 16 29706228 29706228 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:29706228G>C ENST00000395384.4 + 2 418 c.257G>C c.(256-258)aGa>aCa p.R86T QPRT_ENST00000562473.1_Intron|QPRT_ENST00000219771.7_Intron NM_014298.3 NP_055113.2 Q15274 NADC_HUMAN quinolinate phosphoribosyltransferase 86 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity p.R86K(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) CCGGTGGCCAGAGTGGCCGAG 0.657000 118 64 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33649673 33649673 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:33649673G>A ENST00000504830.1 - 8 1655 c.1320C>T c.(1318-1320)atC>atT p.I440I ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.I440I NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 440 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 AGAAGCGGGTGATGTACTCCT 0.527000 HNSCC(64;0.19) 77 48 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175054584 175054584 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:175054584G>T ENST00000239462.4 + 6 1391 c.1278G>T c.(1276-1278)atG>atT p.M426I NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 426 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TGGTGCCCATGAGAGGAGAGC 0.557000 16 15 1.10513e-12 1.17326e-12 1 1 0 PARP14 54625 broad.mit.edu 37 3 122433111 122433111 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:122433111C>T ENST00000474629.2 + 12 4101 c.3835C>T c.(3835-3837)Cag>Tag p.Q1279* NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1279 Macro 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) TTTCCCAGCTCAGCAGCGCAA 0.363000 10 8 0 0 1 0 0 CCDC39 339829 broad.mit.edu 37 3 180397136 180397136 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:180397136C>T ENST00000273654.4 - 7 904 c.285G>A c.(283-285)tgG>tgA p.W95* CCDC39_ENST00000442201.2_Nonsense_Mutation_p.W11* Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 11 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) ACCCATCCTCCCAGTGCAGCT 0.552000 72 145 0 0 1 0 0 KIN 22944 broad.mit.edu 37 10 7820869 7820869 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:7820869C>A ENST00000379562.4 - 5 537 c.490G>T c.(490-492)Gat>Tat p.D164Y KIN_ENST00000535925.1_Missense_Mutation_p.D164Y|KIN_ENST00000543003.1_Missense_Mutation_p.D58Y NM_012311.3 NP_036443.1 O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 TCTTCATCATCAAGGTCCTGC 0.463000 5 319 1.23904e-05 1.26766e-05 1 1 0 CHSY3 337876 broad.mit.edu 37 5 129519958 129519958 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:129519958C>T ENST00000305031.4 + 3 1481 c.1123C>T c.(1123-1125)Cgg>Tgg p.R375W CHSY3_ENST00000507545.1_3'UTR NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 375 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity p.R375W(1) central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TGAACACAATCGGAAGGGTTA 0.343000 36 105 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912208 102912208 + RNA SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:102912208C>T ENST00000312132.4 - 0 2371 CGTTTTACTGCATTAATTACA 0.333000 4 46 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6184141 6184141 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:6184141C>A ENST00000262450.3 - 31 4665 c.4566G>T c.(4564-4566)ggG>ggT p.G1522G CHD5_ENST00000378021.1_Silent_p.G379G NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1522 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TGCTGTACTTCCCGTTGACAT 0.632000 14 32 1.15088e-07 1.2026e-07 1 1 0 NFKB1 4790 broad.mit.edu 37 4 103522086 103522086 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:103522086C>G ENST00000226574.4 + 16 2139 c.1672C>G c.(1672-1674)Caa>Gaa p.Q558E NFKB1_ENST00000600343.1_Missense_Mutation_p.Q377E|NFKB1_ENST00000505458.1_Missense_Mutation_p.Q557E|NFKB1_ENST00000394820.4_Missense_Mutation_p.Q557E NM_001165412.1|NM_003998.3 NP_001158884.1|NP_003989.2 P19838 NFKB1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 557 Interaction with CFLAR. anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 27 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.59e-08) Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041) CCTTCATTCTCAACTTGTGAG 0.348000 51 59 0 0 1 0 0 IP6K2 51447 broad.mit.edu 37 3 48725748 48725748 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:48725748C>G ENST00000328631.5 - 6 1462 c.1239G>C c.(1237-1239)ctG>ctC p.L413L NM_001005909.2|NM_016291.3 NP_001005909.1|NP_057375.2 Q9UHH9 IP6K2_HUMAN inositol hexakisphosphate kinase 2 413 negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway intermediate filament cytoskeleton|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 15 CAATGTCTATCAGGCTCTGGA 0.562000 4 146 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14814342 14814342 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:14814342G>A ENST00000253697.3 + 17 3127 c.2675G>A c.(2674-2676)aGc>aAc p.S892N C3orf20_ENST00000435614.1_Missense_Mutation_p.S770N|C3orf20_ENST00000412910.1_Missense_Mutation_p.S770N NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 892 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 AGCAGGGACAGCAAGATAACT 0.587000 4 53 0 0 1 0 0 AVEN 57099 broad.mit.edu 37 15 34163172 34163172 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:34163172G>C ENST00000306730.3 - 4 705 c.576C>G c.(574-576)ctC>ctG p.L192L AVEN_ENST00000558136.1_5'UTR NM_020371.2 NP_065104.1 Q9NQS1 AVEN_HUMAN apoptosis, caspase activation inhibitor 192 anti-apoptosis|apoptosis endomembrane system|intracellular|membrane|membrane fraction protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 7 all_lung(180;1.78e-08) all cancers(64;1.66e-15)|GBM - Glioblastoma multiforme(113;1.42e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0359) GTCGGAGGCAGAGAGGCAGCT 0.438000 15 40 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101248283 101248283 + Nonsense_Mutation SNP A A C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:101248283A>C ENST00000369162.2 - 6 1364 c.1020T>G c.(1018-1020)taT>taG p.Y340* ASCC3_ENST00000522650.1_Nonsense_Mutation_p.Y340* NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CTTCACGTCGATATTGTTTCA 0.343000 25 25 0 0 1 0 0 INPP1 3628 broad.mit.edu 37 2 191231453 191231453 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:191231453G>C ENST00000392329.2 + 5 998 c.298G>C c.(298-300)Gag>Cag p.E100Q INPP1_ENST00000417336.1_3'UTR|INPP1_ENST00000541441.1_Missense_Mutation_p.E100Q|INPP1_ENST00000322522.4_Missense_Mutation_p.E100Q NM_001128928.1 NP_001122400.1 P49441 INPP_HUMAN inositol polyphosphate-1-phosphatase 100 signal transduction inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057) Lithium(DB01356) GTGTTCAACAGAGGAGGAAAC 0.443000 32 91 0 0 1 0 0 MRPS36 92259 broad.mit.edu 37 5 68524093 68524093 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:68524093G>A ENST00000256441.4 + 3 243 c.173G>A c.(172-174)gGa>gAa p.G58E MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000512880.1_5'UTR|MRPS36_ENST00000602380.1_5'UTR NM_033281.5 NP_150597.1 P82909 RT36_HUMAN mitochondrial ribosomal protein S36 58 translation mitochondrial small ribosomal subunit structural constituent of ribosome NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1) 7 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176) CATTCTAAAGGAAGTAAATCA 0.353000 36 30 0 0 1 0 0 PBLD 64081 broad.mit.edu 37 10 70048777 70048777 + Splice_Site SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:70048777C>T ENST00000358769.2 - 7 626 c.e7-1 PBLD_ENST00000432941.1_Splice_Site|PBLD_ENST00000495025.2_Splice_Site|PBLD_ENST00000336578.1_Splice_Site|PBLD_ENST00000309049.4_Splice_Site NM_022129.3 NP_071412.2 P30039 PBLD_HUMAN phenazine biosynthesis-like protein domain containing biosynthetic process isomerase activity endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 CTATGGCAGTCTGTGGAGACA 0.502000 36 41 0 0 1 0 0 TEX14 56155 broad.mit.edu 37 17 56679793 56679793 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:56679793C>G ENST00000389934.3 - 12 1612 c.1495G>C c.(1495-1497)Gat>Cat p.D499H TEX14_ENST00000240361.8_Missense_Mutation_p.D505H|TEX14_ENST00000349033.5_Missense_Mutation_p.D499H NM_001201457.1|NM_198393.3 NP_001188386.1|NP_938207.2 Q8IWB6 TEX14_HUMAN testis expressed 14 505 Protein kinase. cytoplasm ATP binding|protein kinase activity breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) TACCGGATATCTTGAAGGTTC 0.403000 4 31 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24509642 24509642 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:24509642G>T ENST00000398319.2 + 27 4612 c.4227G>T c.(4225-4227)gaG>gaT p.E1409D CABIN1_ENST00000263119.5_Missense_Mutation_p.E1409D|CABIN1_ENST00000405822.2_Missense_Mutation_p.E1330D NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1409 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CCTACACAGAGAAGAGGCTGC 0.522000 4 138 0.014758 0.0148058 1 1 0 AGGF1 55109 broad.mit.edu 37 5 76342394 76342394 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:76342394G>A ENST00000312916.7 + 6 1475 c.1093G>A c.(1093-1095)Gat>Aat p.D365N NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G patch and FHA domains 1 365 angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis extracellular region|perinuclear region of cytoplasm eukaryotic cell surface binding|nucleic acid binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2) 20 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41) CATGGAGACTGATAGTGAACC 0.383000 97 61 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138000038 138000038 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:138000038C>G ENST00000409968.1 + 10 2340 c.2162C>G c.(2161-2163)tCt>tGt p.S721C THSD7B_ENST00000413152.2_Missense_Mutation_p.S690C|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.S721C thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGTCCAGATTCTACTCGACCT 0.438000 5 47 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1051274 1051274 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:1051274G>A ENST00000263094.6 + 20 3036 c.2805G>A c.(2803-2805)gtG>gtA p.V935V ABCA7_ENST00000433129.1_Silent_p.V935V|ABCA7_ENST00000435683.2_Silent_p.V797V NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 935 ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGAGTGTGCAGACTCGCC 0.642000 19 22 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31997503 31997503 + Silent SNP A A C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:31997503A>C ENST00000435363.2 + 29 3921 c.3837A>C c.(3835-3837)gcA>gcC p.A1279A C4B_ENST00000425700.2_Silent_p.A1279A NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1279 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity AGGGCAAAGCAGAGATGGCAG 0.672000 16 43 0 0 1 0 0 POLR2A 5430 broad.mit.edu 37 17 7401049 7401049 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:7401049G>A ENST00000322644.6 + 7 1461 c.1062G>A c.(1060-1062)ctG>ctA p.L354L POLR2A_ENST00000572844.1_Silent_p.L354L NM_000937.4 NP_000928 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 354 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) GAGGGAACCTGATGGGCAAAA 0.602000 36 7 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4933966 4933966 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:4933966C>G ENST00000345988.2 - 22 4779 c.4690G>C c.(4690-4692)Gag>Cag p.E1564Q PPL_ENST00000590782.2_Missense_Mutation_p.E1562Q NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1564 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TTGTGGTTCTCTTCCCTCAGA 0.552000 56 66 0 0 1 0 0 ZNF397 84307 broad.mit.edu 37 18 32822819 32822819 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:32822819G>C ENST00000330501.7 + 2 538 c.385G>C c.(385-387)Gag>Cag p.E129Q ZNF397_ENST00000355632.4_Missense_Mutation_p.E129Q|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000592264.1_Missense_Mutation_p.E129Q|ZNF397_ENST00000591206.1_Missense_Mutation_p.E129Q|ZNF397_ENST00000261333.6_Missense_Mutation_p.E129Q|ZNF397_ENST00000585800.1_Missense_Mutation_p.E129Q NM_001135178.2 NP_001128650.1 Q8NF99 ZN397_HUMAN zinc finger protein 397 129 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 GGAGGATTTAGAGAGGGAGTT 0.502000 14 49 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78314024 78314024 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:78314024C>T ENST00000582970.1 + 26 6000 c.5857C>T c.(5857-5859)Cag>Tag p.Q1953* RNF213_ENST00000336301.6_Nonsense_Mutation_p.Q26*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q2002* NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CGTCACCCCCCAGGCACCCCT 0.632000 22 28 0 0 1 0 0 LARP7 51574 broad.mit.edu 37 4 113568079 113568079 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:113568079G>C ENST00000509061.1 + 7 844 c.541G>C c.(541-543)Gaa>Caa p.E181Q MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.E174Q|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000509938.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.E174Q NM_001267039.1 NP_001253968.1 Q4G0J3 LARP7_HUMAN La ribonucleoprotein domain family, member 7 174 RRM. RNA processing nucleoplasm|ribonucleoprotein complex nucleotide binding|RNA binding endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 17 Ovarian(17;0.0443)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000603) TGTGGAATTTGAAACAAAAGA 0.308000 63 86 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618660 77618660 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:77618660C>A ENST00000521891.2 + 2 2785 c.2337C>A c.(2335-2337)gcC>gcA p.A779A ZFHX4_ENST00000455469.2_Silent_p.A779A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.A779A|ZFHX4_ENST00000050961.6_Silent_p.A779A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 779 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCAATGTCGCCAGGAACCTCC 0.498000 HNSCC(33;0.089) 21 39 0.000229342 0.000232087 1 1 0 FAM83H 286077 broad.mit.edu 37 8 144808291 144808291 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:144808291C>T ENST00000388913.3 - 5 3465 c.3340G>A c.(3340-3342)Gag>Aag p.E1114K NM_198488.3 NP_940890 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H 1114 biomineral tissue development p.E1114K(1) central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCGCGCTCCTCCGCGCTGGCT 0.652000 23 20 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35824751 35824751 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:35824751C>A ENST00000314607.6 + 3 391 c.311C>A c.(310-312)tCa>tAa p.S104* ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S104*|ZMYM4-AS1_ENST00000432683.1_RNA NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 104 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTTGTTTCTTCAATTCATACT 0.343000 4 40 0.00909568 0.00913497 1 1 0 DYNLL2 140735 broad.mit.edu 37 17 56164499 56164499 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:56164499C>T ENST00000579991.2 + 2 326 c.48C>T c.(46-48)gaC>gaT p.D16D NM_080677.2 NP_542408.1 Q96FJ2 DYL2_HUMAN dynein, light chain, LC8-type 2 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|microtubule-based process|transport centrosome|cytosol|dynein complex|microtubule|myosin complex|plasma membrane motor activity lung(3) 3 TGTCTGAGGACATGCAACAGG 0.517000 4 13 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104448970 104448970 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:104448970G>A ENST00000361820.3 - 2 1812 c.1212C>T c.(1210-1212)acC>acT p.T404T NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 404 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) GTTGGATCATGGTGGCTGTGG 0.468000 66 10 0 0 1 0 0 IGFALS 3483 broad.mit.edu 37 16 1842424 1842424 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:1842424G>C ENST00000415638.3 - 2 188 c.109C>G c.(109-111)Ccc>Gcc p.P37A IGFALS_ENST00000568221.1_Intron|IGFALS_ENST00000215539.3_Intron NM_001146006.1|NM_004970.2 NP_001139478.1|NP_004961.1 P35858 ALS_HUMAN insulin-like growth factor binding protein, acid labile subunit 0 LRRNT. cell adhesion|signal transduction soluble fraction insulin-like growth factor binding endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 8 GAGGCTTGGGGAGGCGGCCCG 0.711000 5 5 0 0 1 0 0 FOXJ3 22887 broad.mit.edu 37 1 42654591 42654591 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:42654591C>G ENST00000372572.1 - 13 1773 c.1462G>C c.(1462-1464)Gag>Cag p.E488Q FOXJ3_ENST00000361346.1_Missense_Mutation_p.E488Q|FOXJ3_ENST00000361776.1_Missense_Mutation_p.E454Q|FOXJ3_ENST00000372571.1_Missense_Mutation_p.E2Q|FOXJ3_ENST00000545068.1_Missense_Mutation_p.E488Q|FOXJ3_ENST00000372573.1_Missense_Mutation_p.E488Q NM_001198851.1 NP_001185780.1 Q9UPW0 FOXJ3_HUMAN forkhead box J3 488 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CTCATACTCTCCATCAGACCT 0.368000 31 18 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55119999 55119999 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:55119999C>T ENST00000370862.3 + 3 804 c.468C>T c.(466-468)atC>atT p.I156I NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 156 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) GGTATGCAATCTGTCACCCTT 0.468000 17 56 0 0 1 0 0 CCR9 10803 broad.mit.edu 37 3 45943267 45943267 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:45943267G>A ENST00000357632.2 + 3 1167 c.987G>A c.(985-987)gtG>gtA p.V329V LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000355983.2_Silent_p.V317V|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.V317V NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 329 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) GGGATCTCGTGAAAACCCTGA 0.512000 39 52 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75797372 75797372 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:75797372G>A ENST00000322507.8 - 65 9411 c.9102C>T c.(9100-9102)atC>atT p.I3034I COL12A1_ENST00000483888.2_Silent_p.I3030I|COL12A1_ENST00000345356.6_Silent_p.I1870I|COL12A1_ENST00000416123.2_Silent_p.I2958I NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 3034 Triple-helical region (COL1) with 2 imperfections. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 GGGGTCCTCGGATACCTGAGT 0.577000 62 40 0 0 1 0 0 DDX43 55510 broad.mit.edu 37 6 74125923 74125923 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:74125923C>T ENST00000370336.4 + 16 2079 c.1921C>T c.(1921-1923)Caa>Taa p.Q641* MB21D1_ENST00000370318.1_Intron NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 641 intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 GGAAAGACCTCAAGGAAGGCC 0.373000 4 35 0 0 1 0 0 SHCBP1L 81626 broad.mit.edu 37 1 182869222 182869222 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:182869222C>T ENST00000367547.3 - 10 2094 c.1858G>A c.(1858-1860)Gat>Aat p.D620N SHCBP1L_ENST00000423786.1_Missense_Mutation_p.D501N|SHCBP1L_ENST00000488956.1_5'UTR NM_030933.2 NP_112195.2 Q9BZQ2 SHP1L_HUMAN SHC SH2-domain binding protein 1-like 692 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2) 15 ATTTTATCATCTTTTTTATCT 0.353000 9 19 0 0 1 0 0 TUBB 203068 broad.mit.edu 37 6 30692163 30692163 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:30692163G>C ENST00000396389.1 + 4 1863 c.1270G>C c.(1270-1272)Gag>Cag p.E424Q TUBB_ENST00000396384.1_Missense_Mutation_p.E370Q|TUBB_ENST00000435534.1_Missense_Mutation_p.E241Q|TUBB_ENST00000327892.8_Missense_Mutation_p.E442Q|TUBB_ENST00000330914.3_Missense_Mutation_p.E370Q P07437 TBB5_HUMAN tubulin, beta class I 442 cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 16 Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361) GGAGGCCGAAGAGGAGGCCTA 0.557000 9 21 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124339327 124339327 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:124339327G>A ENST00000338354.3 + 10 1019 c.913G>A c.(913-915)Gga>Aga p.G305R DMBT1_ENST00000344338.3_Missense_Mutation_p.G305R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G305R|DMBT1_ENST00000368955.3_Missense_Mutation_p.G305R|DMBT1_ENST00000330163.4_Missense_Mutation_p.G305R|DMBT1_ENST00000368909.3_Missense_Mutation_p.G305R Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 305 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCGCTGCTCAGGACATGAGTC 0.612000 114 123 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89774356 89774356 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:89774356C>G ENST00000561976.1 - 14 1976 c.1599G>C c.(1597-1599)ctG>ctC p.L533L VPS9D1_ENST00000389386.3_Silent_p.L603L VPS9 domain containing 1 CCTCTCCGATCAGGTACCTGC 0.617000 33 32 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96506611 96506611 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:96506611C>T ENST00000376747.3 - 35 4197 c.4127G>A c.(4126-4128)gGa>gAa p.G1376E NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 1376 Glucosyltransferase. post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TGCCCAGTATCCTGTTTTCCA 0.383000 7 96 0 0 1 0 0 ACSL1 2180 broad.mit.edu 37 4 185687901 185687901 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:185687901G>A ENST00000515030.1 - 13 1463 c.1138C>T c.(1138-1140)Caa>Taa p.Q380* ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Q380*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Q209*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Q380*|ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Q209*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Q346*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Q380* P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 380 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GTGTTTGCTTGTCCGAAAATC 0.493000 27 30 0 0 1 0 0 PCDH8 5100 broad.mit.edu 37 13 53422340 53422340 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:53422340C>T ENST00000377942.3 - 1 435 c.232G>A c.(232-234)Gaa>Aaa p.E78K PCDH8_ENST00000338862.4_Missense_Mutation_p.E78K NM_002590.3 NP_002581.2 O95206 PCDH8_HUMAN protocadherin 8 78 Cadherin 1. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CCGTCGCCTTCGCGCACCCGG 0.652000 63 45 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57604261 57604261 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:57604261C>G ENST00000243077.3 + 82 13218 c.12752C>G c.(12751-12753)tCt>tGt p.S4251C NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4251 EGF-like 18. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCCTCCCCCTCTGGTATGCCC 0.692000 17 11 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27552304 27552304 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:27552304G>A ENST00000359541.2 - 13 2248 c.1819C>T c.(1819-1821)Cag>Tag p.Q607* GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Q607* Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 607 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGAAACACTGGAAGGGGTAG 0.522000 174 160 0 0 1 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48205572 48205572 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:48205572C>T ENST00000396720.3 + 15 4777 c.4583C>T c.(4582-4584)tCg>tTg p.S1528L CTD-2571L23.8_ENST00000599924.1_lincRNA NM_015711.3 NP_056526.3 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1528 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2) 20 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) CACGCTGCCTCGGCCGGCACC 0.721000 3 19 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29818771 29818771 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:29818771C>G ENST00000219782.6 + 2 771 c.665C>G c.(664-666)tCg>tGg p.S222W AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.S199W|MAZ_ENST00000322945.6_Missense_Mutation_p.S222W|MAZ_ENST00000562337.1_Intron NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 222 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 CGGGTCCCCTCGGGTGCTATG 0.692000 4 68 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37326013 37326013 + Missense_Mutation SNP T T A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:37326013T>A ENST00000231498.3 - 19 2284 c.2081A>T c.(2080-2082)gAg>gTg p.E694V NUP155_ENST00000381843.2_Missense_Mutation_p.E635V|NUP155_ENST00000513532.1_Missense_Mutation_p.E694V NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 694 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGCAGTGATCTCTCTGTTGCC 0.313000 69 56 0 0 1 0 0 KLHL9 55958 broad.mit.edu 37 9 21334109 21334109 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:21334109G>A ENST00000359039.4 - 1 1270 c.750C>T c.(748-750)ctC>ctT p.L250L KLHL9_ENST00000537938.1_Silent_p.L182L Q9P2J3 KLHL9_HUMAN kelch-like family member 9 250 BACK. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) CGTAATTGATGAGATCCTGTG 0.433000 4 70 0 0 1 0 0 IRS1 3667 broad.mit.edu 37 2 227661379 227661379 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:227661379C>G ENST00000305123.5 - 1 3096 c.2076G>C c.(2074-2076)ggG>ggC p.G692G NM_005544.2 NP_005535.1 P35568 IRS1_HUMAN insulin receptor substrate 1 fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity caveola|cytosol|insulin receptor complex|microsome|nucleus insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2) 69 Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23) Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137) CATAGCTGGTCCCGGAAGGGA 0.617000 OREG0015248 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 45 0 0 1 0 0 EPS15L1 58513 broad.mit.edu 37 19 16551699 16551699 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:16551699C>T ENST00000597937.1 - 4 191 c.187G>A c.(187-189)Gaa>Aaa p.E63K EPS15L1_ENST00000248070.6_Missense_Mutation_p.E63K|EPS15L1_ENST00000594975.1_Missense_Mutation_p.E63K|EPS15L1_ENST00000455140.2_Missense_Mutation_p.E63K|EPS15L1_ENST00000535753.2_Missense_Mutation_p.E63K NM_001258376.1 NP_001245305.1 Q9UBC2 EP15R_HUMAN epidermal growth factor receptor pathway substrate 15-like 1 63 EH 1. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|nucleus|plasma membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2) 30 CCTTTACCTTCTGGATCGGCC 0.527000 14 576 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62415019 62415019 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:62415019G>C ENST00000330574.2 - 2 2585 c.2533C>G c.(2533-2535)Ctc>Gtc p.L845V NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 845 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 CCAATGCGGAGATCCCGCTCC 0.652000 50 58 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34236422 34236422 + RNA SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:34236422G>A ENST00000587132.1 - 0 1605 GGTGACATTGGATGCTGAGCT 0.498000 14 41 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353310 113353310 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:113353310C>T ENST00000458497.1 + 11 2886 c.2607C>T c.(2605-2607)caC>caT p.H869H ALPK1_ENST00000504176.2_Silent_p.H791H|ALPK1_ENST00000177648.9_Silent_p.H869H NM_001102406.1|NM_025144.3 NP_001095876.1|NP_079420.3 Q96QP1 ALPK1_HUMAN alpha-kinase 1 869 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CAAATGGGCACGGCTCTCATA 0.597000 35 43 0 0 1 0 0 PYHIN1 149628 broad.mit.edu 37 1 158912136 158912136 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:158912136C>G ENST00000368140.1 + 5 1194 c.949C>G c.(949-951)Ctt>Gtt p.L317V PYHIN1_ENST00000485134.1_3'UTR|PYHIN1_ENST00000368138.3_Missense_Mutation_p.L308V|PYHIN1_ENST00000392252.3_Missense_Mutation_p.L308V|PYHIN1_ENST00000392254.2_Missense_Mutation_p.L317V NM_152501.4|NM_198928.4|NM_198929.4 NP_689714.2|NP_945146.1|NP_945147.1 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 317 HIN-200. cell cycle nuclear speck breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(112;0.0378) GATCAATATTCTTCACAAACA 0.363000 66 29 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34101214 34101214 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:34101214G>A ENST00000538487.2 - 2 503 c.60C>T c.(58-60)ctC>ctT p.L20L GRM4_ENST00000374177.3_Intron|GRM4_ENST00000374181.4_Silent_p.L20L NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) CGTAAAGGCTGAGGAGCAGGC 0.622000 28 22 0 0 1 0 0 ZBTB14 7541 broad.mit.edu 37 18 5290905 5290905 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:5290905C>T ENST00000357006.4 - 4 1640 c.1302G>A c.(1300-1302)gcG>gcA p.A434A ZBTB14_ENST00000400143.3_Silent_p.A434A NM_001143823.2|NM_001243704.1 NP_001137295.1|NP_001230633.1 zinc finger and BTB domain containing 14 CCGCAGCCATCGCTGCCGCCT 0.552000 64 44 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73974731 73974731 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:73974731C>G ENST00000537812.1 - 2 687 c.39G>C c.(37-39)ttG>ttC p.L13F ACOX1_ENST00000301608.4_Missense_Mutation_p.L51F|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000293217.5_Missense_Mutation_p.L51F NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 51 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TGAGGAAGTTCAAGTCCTCAT 0.517000 31 39 0 0 1 0 0 CLCN2 1181 broad.mit.edu 37 3 184074862 184074862 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:184074862C>A ENST00000265593.4 - 10 1175 c.1004G>T c.(1003-1005)gGa>gTa p.G335V CLCN2_ENST00000434054.2_Missense_Mutation_p.G291V|CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.G335V|CLCN2_ENST00000457512.1_Missense_Mutation_p.G335V NM_004366.5 NP_004357.3 P51788 CLCN2_HUMAN chloride channel, voltage-sensitive 2 335 chloride channel complex voltage-gated chloride channel activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) AAAGAGGGCTCCACCGAAGCC 0.552000 12 7 5.50884e-06 5.66728e-06 1 1 0 ITGB4 3691 broad.mit.edu 37 17 73733438 73733438 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:73733438G>A ENST00000200181.3 + 17 2213 c.2026G>A c.(2026-2028)Gag>Aag p.E676K ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.E676K|ITGB4_ENST00000449880.2_Missense_Mutation_p.E676K|ITGB4_ENST00000579662.1_Missense_Mutation_p.E676K|ITGB4_ENST00000450894.3_Missense_Mutation_p.E676K NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 676 IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345). cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CTTCCGGGACGAGGATGACGA 0.662000 3 8 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48623284 48623284 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:48623284C>T ENST00000328333.8 - 29 3872 c.3765G>A c.(3763-3765)caG>caA p.Q1255Q COL7A1_ENST00000454817.1_Silent_p.Q1255Q NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1255 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.Q1255H(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTTCCCCCTTCTGGCCCTGGG 0.582000 20 335 0 0 1 0 0 SCARB1 949 broad.mit.edu 37 12 125271987 125271987 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:125271987C>A ENST00000339570.5 - 10 1415 c.1219G>T c.(1219-1221)Gag>Tag p.E407* SCARB1_ENST00000376788.1_Nonsense_Mutation_p.E307*|SCARB1_ENST00000546215.1_Nonsense_Mutation_p.E407*|SCARB1_ENST00000261693.6_Nonsense_Mutation_p.E407*|SCARB1_ENST00000540495.1_Nonsense_Mutation_p.E370*|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Nonsense_Mutation_p.E407*|SCARB1_ENST00000544327.1_Nonsense_Mutation_p.E353*|SCARB1_ENST00000541205.1_Nonsense_Mutation_p.E366* NM_001082959.1 NP_001076428.1 Q8WTV0 SCRB1_HUMAN scavenger receptor class B, member 1 407 adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing caveola 1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1) 17 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395) Phosphatidylserine(DB00144) ACCACAGGCTCAATCTTCCCA 0.478000 13 6 9.31168e-06 9.56891e-06 1 1 0 TMEM108 66000 broad.mit.edu 37 3 133098718 133098718 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:133098718C>T ENST00000515826.1 + 3 286 c.163C>T c.(163-165)Cac>Tac p.H55Y TMEM108_ENST00000393130.3_Missense_Mutation_p.H55Y|TMEM108_ENST00000508711.1_Intron|TMEM108_ENST00000321871.6_Missense_Mutation_p.H55Y Q6UXF1 TM108_HUMAN transmembrane protein 108 55 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 GACAGCACCCCACAGCTCTAC 0.612000 79 133 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121215661 121215661 + Missense_Mutation SNP A A G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:121215661A>G ENST00000264233.5 - 14 2400 c.2272T>C c.(2272-2274)Tat>Cat p.Y758H NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 758 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) TGACCTGCATAAACAGCAGCT 0.338000 DNA polymerases (catalytic subunits) 41 25 0 0 1 0 0 OPRL1 4987 broad.mit.edu 37 20 62730084 62730084 + Missense_Mutation SNP G G A rs138440707 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:62730084G>A ENST00000349451.3 + 6 1457 c.1045G>A c.(1045-1047)Gtg>Atg p.V349M OPRL1_ENST00000336866.2_Missense_Mutation_p.V349M|OPRL1_ENST00000355631.4_Missense_Mutation_p.V349M NM_001200019.1 NP_001186948.1 P41146 OPRX_HUMAN opiate receptor-like 1 349 elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception integral to plasma membrane protein binding|X-opioid receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08) GTCTGACCGCGTGCGCAGCAT 0.642000 31 76 0 0 1 0 0 PTGDR2 11251 broad.mit.edu 37 11 60620887 60620887 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:60620887G>C ENST00000332539.4 - 2 420 c.309C>G c.(307-309)ttC>ttG p.F103L NM_004778.2 NP_004769.2 Q9Y5Y4 GPR44_HUMAN prostaglandin D2 receptor 2 103 immune response integral to plasma membrane N-formyl peptide receptor activity GCAGTTTGCAGAAGGTGGTGC 0.632000 7 9 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10958929 10958929 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:10958929G>C ENST00000240615.2 - 1 963 c.651C>G c.(649-651)ctC>ctG p.L217L NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 217 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CGGTAGCATAGAGTTTTATTT 0.343000 43 26 0 0 1 0 0 GSTM2 2946 broad.mit.edu 37 1 110211953 110211953 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:110211953C>T ENST00000369831.2 + 4 313 c.219C>T c.(217-219)agC>agT p.S73S GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000369827.3_Silent_p.S71S|GSTM2_ENST00000442650.1_Silent_p.S73S|GSTM2_ENST00000241337.4_Silent_p.S73S|GSTM2_ENST00000369829.2_Silent_p.S73S|GSTM2_ENST00000460717.3_Silent_p.S73S glutathione S-transferase mu 2 (muscle) kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 11 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227) TCACCCAGAGCAACGCCATCC 0.592000 126 105 0 0 1 0 0 CC2D1B 200014 broad.mit.edu 37 1 52824767 52824767 + Missense_Mutation SNP C C T rs144724390 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:52824767C>T ENST00000371586.2 - 11 1327 c.1189G>A c.(1189-1191)Gag>Aag p.E397K CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.E397K NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 397 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 ATGCCCGCCTCGCGGTACTTG 0.632000 7 42 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33935847 33935847 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:33935847C>G ENST00000379238.1 - 17 2076 c.1959G>C c.(1957-1959)caG>caC p.Q653H UBAP2_ENST00000418786.2_Missense_Mutation_p.Q600H|UBAP2_ENST00000360802.1_Missense_Mutation_p.Q653H|UBAP2_ENST00000379225.1_Missense_Mutation_p.Q286H|UBAP2_ENST00000379239.4_Missense_Mutation_p.Q386H|UBAP2_ENST00000539807.1_Missense_Mutation_p.Q408H|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q653H Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 653 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGTCTAGTGTCTGCTGACTTC 0.413000 31 9 0 0 1 0 0 JMY 133746 broad.mit.edu 37 5 78587035 78587035 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:78587035C>G ENST00000396137.4 + 4 1902 c.1440C>G c.(1438-1440)ctC>ctG p.L480L NM_152405.4 NP_689618.4 Q8N9B5 JMY_HUMAN junction mediating and regulatory protein, p53 cofactor 480 Interaction with p300/EP300 (By similarity). 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1) 16 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) TGGAAAAACTCCAGTATGCAG 0.393000 4 77 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49425902 49425902 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:49425902G>A ENST00000301067.7 - 39 12585 c.12586C>T c.(12586-12588)Cag>Tag p.Q4196* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCTCGAAGCTGACCCACCGTA 0.587000 15 50 0 0 1 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457582 45457582 + RNA SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:45457582G>T ENST00000548424.1 + 0 448 GTTGACACTTGATGTCCTGTA 0.498000 13 26 0.000151284 0.000153597 1 1 0 B3GNTL1 146712 broad.mit.edu 37 17 80992923 80992923 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:80992923G>C ENST00000320865.3 - 4 343 c.330C>G c.(328-330)tgC>tgG p.C110W B3GNTL1_ENST00000571954.1_5'UTR|B3GNTL1_ENST00000576599.1_5'UTR NM_001009905.1 NP_001009905.1 Q67FW5 B3GNL_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 110 transferase activity, transferring glycosyl groups endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) all_cancers(8;0.0396)|all_epithelial(8;0.0556) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) AATCCAAAAAGCAAAGGTAAG 0.343000 20 80 0 0 1 0 0 COPA 1314 broad.mit.edu 37 1 160280027 160280027 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:160280027G>A ENST00000241704.7 - 12 1327 c.1098C>T c.(1096-1098)ttC>ttT p.F366F COPA_ENST00000368069.3_Silent_p.F366F NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 366 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGACATATTGAATACTGGAA 0.413000 6 210 0 0 1 0 0 TMEM245 23731 broad.mit.edu 37 9 111855810 111855810 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:111855810G>A ENST00000374586.3 - 4 892 c.861C>T c.(859-861)atC>atT p.I287I NM_032012.3 NP_114401.2 Q9H330 CI005_HUMAN transmembrane protein 245 287 integral to membrane CTGTGATAGAGATGGCCAAGT 0.453000 43 4 0 0 1 0 0 RAB2B 84932 broad.mit.edu 37 14 21945011 21945011 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:21945011G>A ENST00000397762.1 - 1 121 c.21C>T c.(19-21)ttC>ttT p.F7F TOX4_ENST00000405508.1_5'UTR NM_001163380.1|NM_032846.3 NP_001156852.1|NP_116235.2 Q8WUD1 RAB2B_HUMAN RAB2B, member RAS oncogene family 7 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane|plasma membrane GTP binding NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1) 6 all_cancers(95;0.000858) Epithelial(56;1.53e-06)|all cancers(55;1.44e-05) GBM - Glioblastoma multiforme(265;0.00391) TGATATACTTGAAGAGATAAG 0.572000 OREG0022569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 77 11 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38886188 38886188 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:38886188G>T ENST00000274276.3 + 7 1289 c.887G>T c.(886-888)tGg>tTg p.W296L OSMR_ENST00000502536.1_Missense_Mutation_p.W296L NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 296 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TGGTGTAATTGGCAAATAACT 0.318000 77 51 2.65773e-34 2.90105e-34 1 1 0 ASIC4 55515 broad.mit.edu 37 2 220379725 220379725 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:220379725G>A ENST00000358078.4 + 1 674 c.660G>A c.(658-660)ctG>ctA p.L220L AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Silent_p.L220L Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 220 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity GGGGCTACCTGACCCGGCCTC 0.697000 12 18 0 0 1 0 0 SEC14L4 284904 broad.mit.edu 37 22 30886159 30886159 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:30886159G>T ENST00000392772.2 - 12 1315 c.1038C>A c.(1036-1038)ttC>ttA p.F346L SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Missense_Mutation_p.P386T|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.P371T Q9UDX3 S14L4_HUMAN SEC14-like 4 (S. cerevisiae) 0 GOLD. integral to membrane|intracellular lipid binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1) 21 Vitamin E(DB00163) GCCTTGTCGGGAAGCAGCACC 0.587000 11 38 4.3838e-07 4.55523e-07 1 1 0 MAP2K3 5606 broad.mit.edu 37 17 21201752 21201752 + Missense_Mutation SNP G G T rs144032462 by1000genomes TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:21201752G>T ENST00000342679.4 + 2 326 c.77G>T c.(76-78)cGg>cTg p.R26L MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR NM_145109.2 NP_659731.1 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 26 R -> T. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) AAGGATCTACGGATATCCTGC 0.557000 73 173 1.38705e-31 1.50872e-31 1 1 0 LRRC41 10489 broad.mit.edu 37 1 46751045 46751045 + Missense_Mutation SNP A A T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:46751045A>T ENST00000343304.6 - 4 1769 c.1484T>A c.(1483-1485)cTc>cAc p.L495H LRRC41_ENST00000472710.1_5'UTR NM_006369.4 NP_006360.3 Q15345 LRC41_HUMAN leucine rich repeat containing 41 495 breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 28 Acute lymphoblastic leukemia(166;0.155) ATTGTAGGAGAGTGTGAGGCT 0.562000 13 17 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106754 55106754 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:55106754C>T ENST00000453777.1 + 5 718 c.548C>T c.(547-549)tCt>tTt p.S183F LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.S183F|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 183 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GCCATCTTCTCTGTGGGCCCC 0.567000 114 83 0 0 1 0 0 LONRF1 91694 broad.mit.edu 37 8 12583373 12583373 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:12583373C>A ENST00000398246.3 - 11 2095 c.2026G>T c.(2026-2028)Gag>Tag p.E676* LONRF1_ENST00000533751.1_Nonsense_Mutation_p.E319*|LONRF1_ENST00000525024.1_Nonsense_Mutation_p.E102* NM_152271.3 NP_689484.3 Q17RB8 LONF1_HUMAN LON peptidase N-terminal domain and ring finger 1 676 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding p.E676K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2) 19 READ - Rectum adenocarcinoma(644;0.236) TTCTTAATCTCATCTTCATTC 0.403000 3 27 6.4e-05 6.51204e-05 1 1 0 ATN1 1822 broad.mit.edu 37 12 7046397 7046397 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:7046397G>C ENST00000356654.4 + 5 2204 c.1967G>C c.(1966-1968)gGa>gCa p.G656A ATN1_ENST00000396684.2_Missense_Mutation_p.G656A NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 656 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 ACCCCACCCGGATACAAACCC 0.692000 12 19 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4933756 4933756 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:4933756C>T ENST00000345988.2 - 22 4989 c.4900G>A c.(4900-4902)Gac>Aac p.D1634N PPL_ENST00000590782.2_Missense_Mutation_p.D1632N NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1634 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TGCAGCTCGTCGATCTCGAGG 0.632000 25 25 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1905208 1905208 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:1905208C>G ENST00000518288.1 + 30 4049 c.3886C>G c.(3886-3888)Cta>Gta p.L1296V ARHGEF10_ENST00000520359.1_Missense_Mutation_p.L1234V|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.L1268V|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.L1272V|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.L1297V|ARHGEF10_ENST00000521927.1_3'UTR O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 1297 Ser-rich. centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) CTCCAGCTCTCTAGAGCACAG 0.567000 5 51 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152477102 152477102 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:152477102C>G ENST00000367255.5 - 132 24522 c.23921G>C c.(23920-23922)aGa>aCa p.R7974T SYNE1_ENST00000448038.1_Missense_Mutation_p.R7903T|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7586T|SYNE1_ENST00000539504.1_Missense_Mutation_p.R129T|SYNE1_ENST00000423061.1_Missense_Mutation_p.R7903T|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2498T|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7974T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.R129T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7974 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTCCAGGTTTCTCGTAGCCTG 0.527000 HNSCC(10;0.0054) 24 69 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106110053 106110053 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:106110053G>A ENST00000357242.5 + 17 2863 c.2689G>A c.(2689-2691)Gag>Aag p.E897K TBC1D8B_ENST00000276175.3_Missense_Mutation_p.E891K NM_017752.2 NP_060222.2 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 897 intracellular calcium ion binding|Rab GTPase activator activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AAGTTTTACTGAGAAGCTTAA 0.299000 45 5 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27220740 27220740 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:27220740C>T ENST00000361720.5 - 3 1061 c.1038G>A c.(1036-1038)caG>caA p.Q346Q NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 346 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) CTTCTTCCTCCTGCCAGAACT 0.552000 45 72 0 0 1 0 0 C8orf76 84933 broad.mit.edu 37 8 124232391 124232391 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:124232391G>A ENST00000276704.4 - 6 1146 c.1095C>T c.(1093-1095)ttC>ttT p.F365F NM_032847.2 NP_116236.1 Q96K31 CH076_HUMAN chromosome 8 open reading frame 76 365 binding NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4) 17 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CAAATGGACAGAAATGGTCTT 0.388000 4 50 0 0 1 0 0 GALNT7 51809 broad.mit.edu 37 4 174238873 174238873 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:174238873G>T ENST00000265000.4 + 10 1780 c.1697G>T c.(1696-1698)gGa>gTa p.G566V NM_017423.2 NP_059119.2 Q86SF2 GALT7_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) 566 Ricin B-type lectin. protein O-linked glycosylation Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9) 19 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199) CACAGGATGGGAGGGAATCAG 0.413000 12 47 2.27111e-07 2.36786e-07 1 1 0 ABHD10 55347 broad.mit.edu 37 3 111705884 111705884 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:111705884C>G ENST00000273359.3 + 4 589 c.562C>G c.(562-564)Cag>Gag p.Q188E ABHD10_ENST00000494817.1_Missense_Mutation_p.Q188E|ABHD10_ENST00000534857.1_Missense_Mutation_p.Q31E NM_018394.2 NP_060864.1 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 188 mitochondrion serine-type peptidase activity large_intestine(2)|lung(7)|skin(1) 10 AAAGTTTAATCAGCTTCCTGT 0.453000 49 37 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52844142 52844142 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:52844142G>A ENST00000351072.1 + 4 271 c.205G>A c.(205-207)Gag>Aag p.E69K XAGE5_ENST00000425386.1_Missense_Mutation_p.E69K|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000375501.1_Missense_Mutation_p.E69K Q8WWM1 GAGD5_HUMAN X antigen family, member 5 69 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 TGATCTCCAGGAGCTGTCTCA 0.448000 38 1 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203452777 203452777 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:203452777C>G ENST00000343110.2 + 2 592 c.465C>G c.(463-465)ctC>ctG p.L155L NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 155 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) TGGTGTTCCTCTACATGGAGA 0.587000 6 168 0 0 1 0 0 PCNXL4 64430 broad.mit.edu 37 14 60581467 60581467 + Missense_Mutation SNP A A T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:60581467A>T ENST00000406854.1 + 3 1293 c.739A>T c.(739-741)Atc>Ttc p.I247F PCNXL4_ENST00000404681.2_Missense_Mutation_p.I247F|PCNXL4_ENST00000406949.1_Missense_Mutation_p.I13F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.I13F pecanex-like 4 (Drosophila) GATTTTACACATCTTGTTTGT 0.393000 93 23 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152282692 152282692 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:152282692G>A ENST00000368799.1 - 3 4705 c.4670C>T c.(4669-4671)tCa>tTa p.S1557L FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1557 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACGTGACCCTGAGTGCCTGGA 0.602000 Ichthyosis 219 440 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54720976 54720976 + Missense_Mutation SNP G G C rs142108207 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:54720976G>C ENST00000391750.1 - 14 2018 c.1882C>G c.(1882-1884)Ctg>Gtg p.L628V LILRB3_ENST00000346401.6_Missense_Mutation_p.L640V|LILRB3_ENST00000407860.2_Missense_Mutation_p.L645V|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.L629V|LILRB3_ENST00000245620.9_Missense_Mutation_p.L629V|LILRB3_ENST00000424807.1_Missense_Mutation_p.L628V|LILRA6_ENST00000440558.2_Missense_Mutation_p.L628V|LILRA6_ENST00000270464.5_Missense_Mutation_p.L629V O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 628 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGATGGCCAGAGTGGCGTAG 0.632000 24 57 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112342324 112342324 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:112342324C>G ENST00000361804.4 + 10 854 c.728C>G c.(727-729)tCt>tGt p.S243C NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 243 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TCTTAGCTTTCTGCTAAGCGA 0.284000 19 23 0 0 1 0 0 HSPA9 3313 broad.mit.edu 37 5 137892240 137892240 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:137892240G>C ENST00000297185.3 - 16 1988 c.1863C>G c.(1861-1863)ctC>ctG p.L621L HSPA9_ENST00000501917.2_Intron NM_004134.6 NP_004125.3 P38646 GRP75_HUMAN heat shock 70kDa protein 9 (mortalin) 621 anti-apoptosis|protein folding cell surface|mitochondrial nucleoid ATP binding|unfolded protein binding breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TTCTAGCCAGGAGCTCCCTCA 0.408000 9 112 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4409114 4409114 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:4409114C>T ENST00000301280.5 + 3 419 c.318C>T c.(316-318)atC>atT p.I106I NM_005483.2 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 106 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) GAAATAGAATCGAAACCAGTA 0.418000 Chromatin Structure 115 211 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153896268 153896268 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:153896268G>C ENST00000511601.1 + 12 2013 c.1825G>C c.(1825-1827)Gag>Cag p.E609Q FHDC1_ENST00000260008.3_Missense_Mutation_p.E609Q Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 609 actin cytoskeleton organization actin binding p.E609K(1) ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GGGGGGCCAGGAGGAGGCCCC 0.697000 110 124 0 0 1 0 0 TTC18 118491 broad.mit.edu 37 10 75069932 75069932 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:75069932C>G ENST00000310715.3 - 13 1570 c.1450G>C c.(1450-1452)Gag>Cag p.E484Q TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.E484Q|TTC18_ENST00000401621.2_Missense_Mutation_p.E484Q|TTC18_ENST00000340329.3_Intron NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 484 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) GCTAGCTCCTCTGGCATTCGC 0.388000 8 106 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620741 56620741 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:56620741C>A ENST00000321691.3 - 1 988 c.807G>T c.(805-807)ttG>ttT p.L269F RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA NM_001038704.2 NP_001033793 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 269 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCAATGAGTCCAAGTTCATAT 0.453000 36 16 4.11147e-13 4.37992e-13 1 1 0 PIGT 51604 broad.mit.edu 37 20 44048152 44048152 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:44048152C>G ENST00000279036.6 + 5 683 c.603C>G c.(601-603)ctC>ctG p.L201L PIGT_ENST00000372689.5_Silent_p.L201L|PIGT_ENST00000279035.9_Silent_p.L99L|PIGT_ENST00000543458.2_Silent_p.L145L|PIGT_ENST00000535404.1_Silent_p.L46L|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_5'UTR NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 201 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) AGGCAGGCCTCTCTGTGCTGC 0.582000 56 362 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13227203 13227203 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:13227203G>C ENST00000592062.1 - 3 581 c.11C>G c.(10-12)tCg>tGg p.S4W TRMT1_ENST00000357720.4_Missense_Mutation_p.S4W|TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000221504.8_Missense_Mutation_p.S4W|TRMT1_ENST00000437766.1_Missense_Mutation_p.S4W Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 4 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) CCACAGAGACGATCCTTGCAT 0.662000 47 36 0 0 1 0 0 SNX6 58533 broad.mit.edu 37 14 35074893 35074893 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:35074893C>G ENST00000362031.4 - 5 367 c.337G>C c.(337-339)Gat>Cat p.D113H SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000396534.3_5'UTR NM_152233.2 NP_689419.2 Q9UNH7 SNX6_HUMAN sorting nexin 6 101 PX. cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi cytoplasmic vesicle membrane|early endosome membrane|nucleus phosphatidylinositol binding|protein homodimerization activity endometrium(4)|lung(1)|ovary(1) 6 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.0245) CTTGAAGCATCAAAATCAGGT 0.403000 29 11 0 0 1 0 0 GSTM3 2947 broad.mit.edu 37 1 110282104 110282104 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:110282104C>T ENST00000540225.1 - 4 446 c.136G>A c.(136-138)Gat>Aat p.D46N GSTM3_ENST00000361066.2_Missense_Mutation_p.D46N|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000256594.3_Missense_Mutation_p.D46N|RP4-735C1.4_ENST00000431955.1_RNA P21266 GSTM3_HUMAN glutathione S-transferase mu 3 (brain) 46 GST N-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) TGGCTTCGATCATAGTCAGGA 0.463000 9 267 0 0 1 0 0 MSL1 339287 broad.mit.edu 37 17 38285590 38285590 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:38285590C>T ENST00000398532.4 + 3 1400 c.1085C>T c.(1084-1086)tCt>tTt p.S362F MSL1_ENST00000578648.1_Missense_Mutation_p.S362F|MSL1_ENST00000577454.1_Missense_Mutation_p.S362F|MSL1_ENST00000579565.1_Missense_Mutation_p.S99F NM_001012241.1 NP_001012241.1 Q68DK7 MSL1_HUMAN male-specific lethal 1 homolog (Drosophila) histone H4-K16 acetylation MSL complex endometrium(1)|kidney(2)|large_intestine(2)|lung(2) 7 CCTAAGCACTCTCCTATTAAA 0.413000 59 60 0 0 1 0 0 SHOX 6473 broad.mit.edu 37 X 601575 601575 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:601575G>A ENST00000381578.1 + 4 1197 c.506G>A c.(505-507)aGa>aAa p.R169K SHOX_ENST00000381575.1_Missense_Mutation_p.R169K|SHOX_ENST00000334060.3_Missense_Mutation_p.R169K|SHOX_ENST00000554971.1_Missense_Mutation_p.R169K NM_000451.3 NP_000442.1 O15266 SHOX_HUMAN short stature homeobox 169 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|lung(9)|prostate(1) 13 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGAACCGGAGAGCCAAGTGC 0.597000 50 79 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198505825 198505825 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:198505825C>G ENST00000309309.7 - 3 217 c.112G>C c.(112-114)Gac>Cac p.D38H ATP6V1G3_ENST00000281087.2_Intron|ATP6V1G3_ENST00000489986.1_Splice_Site_p.K28N|ATP6V1G3_ENST00000367381.1_Splice_Site_p.K28N|ATP6V1G3_ENST00000367382.1_Intron NM_133326.1 NP_579872.1 Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 0 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 CAGTCCCAGTCTCTTCGTTTT 0.333000 65 215 0 0 1 0 0 BTNL2 56244 broad.mit.edu 37 6 32363975 32363975 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:32363975C>A ENST00000454136.3 - 5 923 c.919G>T c.(919-921)Gag>Tag p.E307* BTNL2_ENST00000374993.1_Nonsense_Mutation_p.E307*|BTNL2_ENST00000544175.1_Nonsense_Mutation_p.E30*|BTNL2_ENST00000540315.1_Nonsense_Mutation_p.E97*|BTNL2_ENST00000414363.1_Nonsense_Mutation_p.E97*|BTNL2_ENST00000429232.2_Nonsense_Mutation_p.E214*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.E213* Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 307 Ig-like V-type 3. integral to membrane central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 CCTCTGTACTCTGCCATCTGC 0.582000 11 28 3.86212e-05 3.93403e-05 1 1 0 ADAMTS10 81794 broad.mit.edu 37 19 8651502 8651502 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:8651502C>T ENST00000270328.4 - 19 2609 c.2343G>A c.(2341-2343)ggG>ggA p.G781G ADAMTS10_ENST00000597188.1_Silent_p.G781G|ADAMTS10_ENST00000595838.1_Silent_p.G268G Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 781 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 CCTGGTCTGGCCCCTGTCGCA 0.617000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 119 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81503365 81503365 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:81503365G>A ENST00000548058.1 + 2 1248 c.338G>A c.(337-339)tGt>tAt p.C113Y RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Missense_Mutation_p.C112Y Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 113 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CTTAACATTTGTTACAATGCC 0.313000 27 20 0 0 1 0 0 SERPINB6 5269 broad.mit.edu 37 6 2959519 2959519 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:2959519C>T ENST00000380520.1 - 1 2042 c.48G>A c.(46-48)ttG>ttA p.L16L SERPINB6_ENST00000380524.1_Silent_p.L16L|SERPINB6_ENST00000380539.1_Silent_p.L16L|SERPINB6_ENST00000380546.3_Silent_p.L16L|SERPINB6_ENST00000335686.5_Silent_p.L16L|SERPINB6_ENST00000380529.1_Silent_p.L16L P35237 SPB6_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 6 16 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2) 17 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) CCAGCGTTTTCAAAAGGTTTA 0.468000 5 113 0 0 1 0 0 TP53INP1 94241 broad.mit.edu 37 8 95952279 95952279 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:95952279C>G ENST00000342697.4 - 3 689 c.282G>C c.(280-282)gaG>gaC p.E94D TP53INP1_ENST00000448464.2_Missense_Mutation_p.E94D|TP53INP1_ENST00000378776.4_Missense_Mutation_p.E94D|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 94 apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) TAAACCAGCTCTCCTCCATTG 0.463000 70 35 0 0 1 0 0 SSH2 85464 broad.mit.edu 37 17 27999017 27999017 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:27999017C>T ENST00000269033.3 - 8 815 c.664G>A c.(664-666)Gaa>Aaa p.E222K RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.E249K NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 222 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCATTCCATTCATTGACTGAG 0.468000 17 188 0 0 1 0 0 NEK7 140609 broad.mit.edu 37 1 198233300 198233300 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:198233300G>A ENST00000367385.4 + 5 649 c.307G>A c.(307-309)Gaa>Aaa p.E103K NEK7_ENST00000538004.1_Missense_Mutation_p.E103K NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 103 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 ATCATTCATTGAAGATAATGA 0.313000 5 101 0 0 1 0 0 CD163L1 283316 broad.mit.edu 37 12 7528192 7528192 + Splice_Site SNP C C T rs138525217 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:7528192C>T ENST00000313599.3 - 11 2744 c.e11-1 CD163L1_ENST00000396630.1_Splice_Site|CD163L1_ENST00000544331.1_Splice_Site|CD163L1_ENST00000416109.2_Splice_Site Q9NR16 C163B_HUMAN CD163 molecule-like 1 extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCTGTATATCCTAGGAGGAGA 0.488000 29 16 0 0 1 0 0 SMPDL3A 10924 broad.mit.edu 37 6 123124903 123124903 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:123124903G>A ENST00000368440.4 + 5 840 c.663G>A c.(661-663)ctG>ctA p.L221L SMPDL3A_ENST00000539041.1_Silent_p.L90L NM_006714.3 NP_006705.1 Q92484 ASM3A_HUMAN sphingomyelin phosphodiesterase, acid-like 3A 221 sphingomyelin catabolic process extracellular space hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1) 10 GBM - Glioblastoma multiforme(226;0.236) TAATGACACTGAACAAGACTG 0.388000 73 54 0 0 1 0 0 SLC44A3 126969 broad.mit.edu 37 1 95290163 95290163 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:95290163C>G ENST00000271227.6 + 3 352 c.250C>G c.(250-252)Ctt>Gtt p.L84V SLC44A3_ENST00000529450.1_Missense_Mutation_p.L84V|SLC44A3_ENST00000532427.1_Missense_Mutation_p.L36V|SLC44A3_ENST00000527077.1_Missense_Mutation_p.L48V|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L48V|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L36V NM_001114106.2|NM_001258340.1|NM_001258341.1 NP_001107578.1|NP_001245269.1|NP_001245270.1 Q8N4M1 CTL3_HUMAN solute carrier family 44, member 3 84 integral to membrane|plasma membrane choline transmembrane transporter activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1) 23 all_lung(203;0.000712)|Lung NSC(277;0.00316) all cancers(265;0.039)|Epithelial(280;0.124) Choline(DB00122) AGGGGCCCCTCTTTCAGGGCA 0.483000 26 90 0 0 1 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58306123 58306123 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:58306123G>C ENST00000249750.4 - 3 1063 c.296C>G c.(295-297)gCt>gGt p.A99G ALDH1A2_ENST00000537372.1_Missense_Mutation_p.A78G|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.A3G|ALDH1A2_ENST00000558231.1_Missense_Mutation_p.A70G|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.A99G NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 99 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CCTTTCTGAAGCATCCATCCT 0.483000 10 361 0 0 1 0 0 RGS12 6002 broad.mit.edu 37 4 3430382 3430382 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:3430382C>T ENST00000336727.3 + 16 4413 c.3509C>T c.(3508-3510)tCt>tTt p.S1170F RGS12_ENST00000338806.4_Missense_Mutation_p.S522F|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000382788.3_Missense_Mutation_p.S1170F|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000344733.5_Missense_Mutation_p.S1170F NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 1170 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGAGAAGAATCTATTGCAAAG 0.343000 45 44 0 0 1 0 0 ZNF37BP 100129482 broad.mit.edu 37 10 43015727 43015727 + RNA SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:43015727G>A ENST00000452075.3 - 0 1867 NR_026777.1 TGACTTAAACGAGGTTTTCCC 0.423000 6 16 0 0 1 0 0 BCL2L13 23786 broad.mit.edu 37 22 18210208 18210208 + Nonsense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:18210208G>T ENST00000317582.5 + 7 1713 c.1366G>T c.(1366-1368)Gag>Tag p.E456* BCL2L13_ENST00000538149.1_Nonsense_Mutation_p.E332*|BCL2L13_ENST00000485631.1_3'UTR|BCL2L13_ENST00000355028.3_3'UTR|BCL2L13_ENST00000337612.5_Nonsense_Mutation_p.E294*|BCL2L13_ENST00000418951.2_3'UTR|BCL2L13_ENST00000543133.1_Nonsense_Mutation_p.E294* NM_015367.3 NP_056182.2 Q9BXK5 B2L13_HUMAN BCL2-like 13 (apoptosis facilitator) 456 induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) GCCGCTGTCTGAGGGCAAGTC 0.607000 48 95 1.30916e-28 1.41737e-28 1 1 0 SCAF1 58506 broad.mit.edu 37 19 50154724 50154724 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:50154724G>A ENST00000360565.3 + 7 1202 c.1078G>A c.(1078-1080)Gag>Aag p.E360K NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 360 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GACCGAGGCAGAGGCTTGTCG 0.726000 9 4 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116061127 116061127 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:116061127C>A ENST00000369271.3 - 13 1828 c.1528G>T c.(1528-1530)Gag>Tag p.E510* AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Nonsense_Mutation_p.E563*|AFAP1L2_ENST00000304129.4_Nonsense_Mutation_p.E510* NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 510 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GCTGTGAGCTCTGACAGGTCC 0.592000 4 45 0.00024832 0.000251019 1 1 0 ARMC8 25852 broad.mit.edu 37 3 137956400 137956400 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:137956400C>T ENST00000469044.1 + 9 1033 c.762C>T c.(760-762)ctC>ctT p.L254L ARMC8_ENST00000470821.1_Silent_p.L254L|ARMC8_ENST00000489213.1_Silent_p.L212L|ARMC8_ENST00000485396.1_Silent_p.L181L|ARMC8_ENST00000461822.1_Silent_p.L254L|ARMC8_ENST00000491704.1_Silent_p.L212L|ARMC8_ENST00000393058.3_Silent_p.L244L|ARMC8_ENST00000481646.1_Silent_p.L240L|ARMC8_ENST00000538260.1_Silent_p.L223L|ARMC8_ENST00000358441.2_Silent_p.L240L|ARMC8_ENST00000471453.1_Silent_p.L240L NM_001267041.1|NM_001267042.1 NP_001253970.1|NP_001253971.1 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 254 binding endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1) 16 AGATGCAGCTCACATCAGCAA 0.358000 26 24 0 0 1 0 0 PRTG 283659 broad.mit.edu 37 15 55972329 55972329 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:55972329G>A ENST00000389286.4 - 6 943 c.896C>T c.(895-897)gCt>gTt p.A299V NM_173814.4 NP_776175.2 Q2VWP7 PRTG_HUMAN protogenin 299 Ig-like 3. multicellular organismal development integral to membrane breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135) ATATACTCCAGCATGTTGTAG 0.393000 9 25 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119583487 119583487 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:119583487C>G ENST00000267260.4 + 9 1461 c.1073C>G c.(1072-1074)tCa>tGa p.S358* NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 358 Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 GGCAGAGAGTCAAGGTCAGTG 0.602000 7 13 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98563429 98563429 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:98563429G>A ENST00000359863.4 + 48 7275 c.7066G>A c.(7066-7068)Gaa>Aaa p.E2356K TRRAP_ENST00000446306.3_Missense_Mutation_p.E2338K|TRRAP_ENST00000355540.3_Missense_Mutation_p.E2338K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2356 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATCCCTCATCGAAAAATCACC 0.532000 44 39 0 0 1 0 0 NAP1L1 4673 broad.mit.edu 37 12 76453941 76453941 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:76453941G>C ENST00000261182.8 - 5 811 c.325C>G c.(325-327)Ctc>Gtc p.L109V NAP1L1_ENST00000549596.1_Missense_Mutation_p.L109V|NAP1L1_ENST00000535020.2_Missense_Mutation_p.L109V|NAP1L1_ENST00000547773.1_Missense_Mutation_p.L46V|NAP1L1_ENST00000548044.1_Missense_Mutation_p.L68V|NAP1L1_ENST00000542344.1_Missense_Mutation_p.L68V|NAP1L1_ENST00000552342.1_Missense_Mutation_p.L109V|NAP1L1_ENST00000431879.3_Missense_Mutation_p.L68V|NAP1L1_ENST00000393263.3_Missense_Mutation_p.L109V|NAP1L1_ENST00000544816.1_5'UTR NM_004537.4|NM_139207.2 NP_004528.1|NP_631946.1 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 109 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 Colorectal(145;0.09) GGCTGATAGAGAACAGCATAC 0.368000 15 61 0 0 1 0 0 NAA40 79829 broad.mit.edu 37 11 63719941 63719941 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:63719941G>A ENST00000377793.4 + 5 415 c.314G>A c.(313-315)cGa>cAa p.R105Q NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000542163.1_Missense_Mutation_p.R84Q|NAA40_ENST00000539656.1_Intron|NAA40_ENST00000456907.2_Missense_Mutation_p.R65Q NM_024771.2 NP_079047.2 Q86UY6 NAA40_HUMAN N(alpha)-acetyltransferase 40, NatD catalytic subunit 105 N-acetyltransferase. N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 ACAGATGACCGAGCCTGGTAC 0.562000 54 52 0 0 1 0 0 KPNA5 3841 broad.mit.edu 37 6 117045483 117045483 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:117045483C>T ENST00000368564.1 + 10 1092 c.944C>T c.(943-945)tCa>tTa p.S315L KPNA5_ENST00000356348.1_Missense_Mutation_p.S315L O15131 IMA5_HUMAN karyopherin alpha 5 (importin alpha 6) 312 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding|protein transporter activity breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212) AAAGTTGTATCACCTGCATTA 0.284000 9 24 0 0 1 0 0 STX1A 6804 broad.mit.edu 37 7 73117244 73117244 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:73117244G>C ENST00000222812.3 - 8 635 c.609C>G c.(607-609)atC>atG p.I203M STX1A_ENST00000395155.3_Missense_Mutation_p.I203M|STX1A_ENST00000395154.3_Missense_Mutation_p.I203M|STX1A_ENST00000395156.3_Missense_Mutation_p.I203M|WBSCR22_ENST00000423166.2_Intron NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 203 t-SNARE coiled-coil homology. energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) TCTCCAGCTTGATGATCTCAC 0.612000 23 50 0 0 1 0 0 THEMIS2 9473 broad.mit.edu 37 1 28209310 28209310 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:28209310C>G ENST00000373921.3 + 4 1479 c.1475C>G c.(1474-1476)tCt>tGt p.S492C THEMIS2_ENST00000373927.3_Intron|THEMIS2_ENST00000328928.7_Missense_Mutation_p.S363C|THEMIS2_ENST00000373925.1_Intron NM_001105556.1 NP_001099026.1 thymocyte selection associated family member 2 AGCCTAGACTCTGAGCCTGGG 0.612000 6 192 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1643153 1643153 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:1643153G>C ENST00000308132.6 - 5 1256 c.1064C>G c.(1063-1065)tCt>tGt p.S355C FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000472884.2_Missense_Mutation_p.S355C|FAM53A_ENST00000461064.1_Missense_Mutation_p.S355C NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 355 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CGACTCCCTAGAGGCCCACAG 0.706000 7 183 0 0 1 0 0 CTNND1 1500 broad.mit.edu 37 11 57583408 57583408 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:57583408C>G ENST00000399050.4 + 20 3366 c.2830C>G c.(2830-2832)Ctg>Gtg p.L944V CTNND1_ENST00000530748.1_Intron|CTNND1_ENST00000532245.1_Intron|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532649.1_Intron|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000528621.1_Intron|CTNND1_ENST00000534579.1_Intron|CTNND1_ENST00000426142.2_Intron|CTNND1_ENST00000526938.1_Intron|CTNND1_ENST00000529986.1_Intron|CTNND1_ENST00000528232.1_Intron|CTNND1_ENST00000532844.1_Missense_Mutation_p.L890V|CTNND1_ENST00000361796.4_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.L863V|CTNND1_ENST00000358694.6_Intron|CTNND1_ENST00000532463.1_Intron|CTNND1_ENST00000530094.1_Missense_Mutation_p.L837V|CTNND1_ENST00000527467.1_Missense_Mutation_p.L621V|CTNND1_ENST00000524630.1_Intron|CTNND1_ENST00000529919.1_Intron|CTNND1_ENST00000361391.6_Missense_Mutation_p.L917V|CTNND1_ENST00000529526.1_Intron|CTNND1_ENST00000399039.4_Intron|CTNND1_ENST00000531014.1_Missense_Mutation_p.L615V|CTNND1_ENST00000428599.2_Intron|CTNND1_ENST00000532787.1_Missense_Mutation_p.L816V|CTNND1_ENST00000526357.1_Missense_Mutation_p.L884V|CTNND1_ENST00000533667.1_Missense_Mutation_p.L594V|CTNND1_ENST00000361332.4_Missense_Mutation_p.L938V|CTNND1_ENST00000360682.6_Missense_Mutation_p.L923V|CTNND1_ENST00000415361.2_Missense_Mutation_p.L843V NM_001085458.1 NP_001078927.1 O60716 CTND1_HUMAN catenin (cadherin-associated protein), delta 1 944 adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2) 45 all_epithelial(135;0.155) GCAGGAATCTCTGGAGGAAGA 0.493000 11 12 0 0 1 0 0 ENOSF1 55556 broad.mit.edu 37 18 683378 683378 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:683378C>T ENST00000319815.6 - 3 1318 c.54G>A c.(52-54)atG>atA p.M18I ENOSF1_ENST00000251101.7_Missense_Mutation_p.M248I|ENOSF1_ENST00000340116.7_Missense_Mutation_p.M269I|ENOSF1_ENST00000580982.1_Missense_Mutation_p.M172I|ENOSF1_ENST00000383578.3_Missense_Mutation_p.M166I|ENOSF1_ENST00000583973.1_5'UTR Q7L5Y1 ENOF1_HUMAN enolase superfamily member 1 248 cellular amino acid catabolic process mitochondrion isomerase activity|metal ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 10 TGGCATCCATCATCTGCAAAA 0.587000 21 57 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566046 142566046 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:142566046C>G ENST00000392957.2 + 14 2753 c.1966C>G c.(1966-1968)Cag>Gag p.Q656E EPHB6_ENST00000411471.2_Missense_Mutation_p.Q379E|EPHB6_ENST00000442129.1_Missense_Mutation_p.Q656E NM_004445.3 NP_004436.3 O15197 EPHB6_HUMAN EPH receptor B6 656 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGACCCCTGTCAGGCCATCCG 0.562000 55 25 0 0 1 0 0 ZFY 7544 broad.mit.edu 37 Y 2844836 2844836 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrY:2844836G>T ENST00000155093.3 + 6 1375 c.1054G>T c.(1054-1056)Gta>Tta p.V352L ZFY_ENST00000383052.1_Missense_Mutation_p.V352L|ZFY_ENST00000431102.1_Missense_Mutation_p.V161L|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000449237.1_Intron NM_003411.3 NP_003402.2 P08048 ZFY_HUMAN zinc finger protein, Y-linked 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3) 8 GAAAACCTTCGTACCAATTGC 0.428000 13 31 1.5842e-08 1.66475e-08 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152565761 152565761 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:152565761C>G ENST00000367255.5 - 106 20204 c.19603G>C c.(19603-19605)Gaa>Caa p.E6535Q SYNE1_ENST00000448038.1_Missense_Mutation_p.E6464Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E6147Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6464Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.E1059Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6535Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6535 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCATCAAATTCTTTGAGTCCA 0.438000 HNSCC(10;0.0054) 52 39 0 0 1 0 0 BUD31 8896 broad.mit.edu 37 7 99013831 99013831 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:99013831G>C ENST00000403633.2 + 4 694 c.165G>C c.(163-165)caG>caC p.Q55H BUD31_ENST00000431419.1_Missense_Mutation_p.Q26H|BUD31_ENST00000222969.5_Missense_Mutation_p.Q55H|BUD31_ENST00000456893.1_Intron P41223 BUD31_HUMAN BUD31 homolog (S. cerevisiae) 55 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TCCACCACCAGAAAACCCGCT 0.493000 24 125 0 0 1 0 0 TTC7A 57217 broad.mit.edu 37 2 47300852 47300852 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:47300852G>A ENST00000319190.5 + 20 2735 c.2367G>A c.(2365-2367)ctG>ctA p.L789L RP11-761B3.1_ENST00000422269.1_Intron|TTC7A_ENST00000409245.1_Silent_p.L755L|C2orf61_ENST00000464527.2_Intron|TTC7A_ENST00000394850.2_Silent_p.L813L|TTC7A_ENST00000263737.6_Silent_p.L435L NM_020458.2 NP_065191.2 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 789 binding breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GTCTGATGCTGAGTCGGCTGG 0.652000 46 45 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123265785 123265785 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:123265785G>C ENST00000253079.6 + 3 648 c.304G>C c.(304-306)Gaa>Caa p.E102Q CCDC62_ENST00000392441.4_Missense_Mutation_p.E102Q|CCDC62_ENST00000537566.1_5'UTR NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 102 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) CAATCAAATGGAATGCCAAAC 0.408000 5 104 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42466732 42466732 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:42466732T>C ENST00000381668.5 - 27 2825 c.2594A>G c.(2593-2595)aAg>aGg p.K865R ATP8A1_ENST00000264449.10_Missense_Mutation_p.K850R NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 865 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CACTATATTCTTGTAGAAGCA 0.313000 42 46 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161902 90161902 + RNA SNP A A G rs6500471 by1000genomes TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:90161902A>G ENST00000567960.1 + 0 638 TUBB8P7_ENST00000564451.1_RNA p.K213R(8) ATATGTTCCAAGACCCTAAAA 0.537000 5 38 0 0 1 0 0 BDP1 55814 broad.mit.edu 37 5 70808128 70808128 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:70808128G>A ENST00000358731.4 + 18 4383 c.4120G>A c.(4120-4122)Gaa>Aaa p.E1374K BDP1_ENST00000380675.2_5'UTR NM_018429.2 NP_060899.2 A6H8Y1 BDP1_HUMAN B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB 1374 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding p.E1374Q(1) NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AAGAAATTCTGAAAAAGAAGT 0.363000 58 35 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618659 77618659 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:77618659C>A ENST00000521891.2 + 2 2784 c.2336C>A c.(2335-2337)gCc>gAc p.A779D ZFHX4_ENST00000455469.2_Missense_Mutation_p.A779D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.A779D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A779D NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 779 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCAATGTCGCCAGGAACCTC 0.498000 HNSCC(33;0.089) 21 40 2.27731e-05 2.3248e-05 1 1 0 DMXL2 23312 broad.mit.edu 37 15 51749644 51749644 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:51749644G>A ENST00000251076.5 - 36 8439 c.8152C>T c.(8152-8154)Cgt>Tgt p.R2718C DMXL2_ENST00000449909.3_Missense_Mutation_p.R2082C|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.R2719C|RP11-707P17.2_ENST00000559977.1_RNA NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 2718 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) GTGGAACCACGATAATCAACA 0.413000 50 41 0 0 1 0 0 KRT84 3890 broad.mit.edu 37 12 52778880 52778880 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:52778880C>A ENST00000257951.3 - 1 556 c.490G>T c.(490-492)Gat>Tat p.D164Y RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 164 Head. keratin filament structural constituent of epidermis breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) TCCTTCTCATCCTTCTTCACC 0.498000 131 123 1.30882e-70 1.44048e-70 1 1 0 GBX2 2637 broad.mit.edu 37 2 237075028 237075028 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:237075028C>T ENST00000551105.1 - 3 650 c.613G>A c.(613-615)Gaa>Aaa p.E205K GBX2_ENST00000306318.4_Silent_p.P192P|GBX2_ENST00000465889.1_5'UTR P52951 GBX2_HUMAN gastrulation brain homeobox 2 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CCTTGCCCTTCGGGTCGTCTT 0.562000 71 57 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227895 28227895 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:28227895G>A ENST00000343684.3 + 1 798 c.746G>A c.(745-747)aGt>aAt p.S249N NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 249 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 AAAGAATCCAGTGACTCAAGC 0.368000 7 7 0 0 1 0 0 ATMIN 23300 broad.mit.edu 37 16 81076969 81076969 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:81076969G>C ENST00000566488.1 + 3 1361 c.398G>C c.(397-399)aGa>aCa p.R133T ATMIN_ENST00000564241.1_Missense_Mutation_p.R133T|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Missense_Mutation_p.R289T O43313 ATMIN_HUMAN ATM interactor 289 response to DNA damage stimulus nucleus zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 20 ACACCACCGAGATATCCTCAG 0.443000 42 94 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23871969 23871969 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:23871969C>G ENST00000354639.3 + 24 3439 c.2975C>G c.(2974-2976)gCc>gGc p.A992G STK31_ENST00000433467.2_Missense_Mutation_p.A992G|STK31_ENST00000355870.3_Missense_Mutation_p.A1015G|STK31_ENST00000428484.1_Missense_Mutation_p.A992G|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 1015 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AATGGTGAAGCCAACTTTGAT 0.318000 16 47 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132184556 132184556 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:132184556C>G ENST00000374786.1 + 6 1372 c.893C>G c.(892-894)tCc>tGc p.S298C NTM_ENST00000427481.2_Missense_Mutation_p.S289C|NTM_ENST00000374791.3_Missense_Mutation_p.S298C|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.S298C|NTM_ENST00000425719.2_Missense_Mutation_p.S298C|NTM_ENST00000539799.1_Missense_Mutation_p.S298C NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 298 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 TGCGTGGCCTCCAACAAGCTG 0.507000 31 24 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40268702 40268702 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:40268702G>A ENST00000263791.5 + 12 1949 c.1906G>A c.(1906-1908)Gaa>Aaa p.E636K EIF2AK4_ENST00000382727.2_Missense_Mutation_p.E636K NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 636 Protein kinase 2. 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) GATCAAGGGCGAAGTGACACT 0.657000 13 29 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800923 67800923 + Silent SNP A A T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:67800923A>T ENST00000544246.1 - 2 2341 c.1650T>A c.(1648-1650)ccT>ccA p.P550P PCDH9_ENST00000377865.2_Silent_p.P550P|PCDH9_ENST00000456367.1_Silent_p.P550P|PCDH9_ENST00000328454.5_Silent_p.P550P|PCDH9_ENST00000377861.3_Silent_p.P550P NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 550 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TTTGGAGGGGAGGGGTCCCAT 0.428000 25 108 0 0 1 0 0 GPR158 57512 broad.mit.edu 37 10 25888018 25888018 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:25888018T>C ENST00000376351.3 + 11 3822 c.3463T>C c.(3463-3465)Tat>Cat p.Y1155H GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1155 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GCGTGGCTCCTATAACTCAAG 0.433000 35 31 0 0 1 0 0 KCNMB3 27094 broad.mit.edu 37 3 178968533 178968533 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:178968533G>C ENST00000392685.2 - 1 885 c.246C>G c.(244-246)ctC>ctG p.L82L KCNMB3_ENST00000349697.2_Silent_p.L84L|KCNMB3_ENST00000497599.1_Silent_p.L84L|KCNMB3_ENST00000314235.5_Silent_p.L86L|KCNMB3_ENST00000485523.1_Silent_p.L64L NM_171830.1 NP_741981.1 Q9NPA1 KCMB3_HUMAN potassium large conductance calcium-activated channel, subfamily M beta member 3 86 detection of calcium ion|platelet activation|regulation of action potential in neuron voltage-gated potassium channel complex calcium-activated potassium channel activity|potassium channel regulator activity NS(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03) TTTCTTACCTGAGCATAAAAG 0.478000 5 89 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 33996117 33996117 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:33996117C>A ENST00000538487.2 - 10 2912 c.2469G>T c.(2467-2469)acG>acT p.T823T GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Silent_p.T690T|GRM4_ENST00000455714.2_Silent_p.T683T|GRM4_ENST00000374177.3_Silent_p.T707T|GRM4_ENST00000609222.1_Silent_p.T690T|GRM4_ENST00000544773.2_Silent_p.T654T|GRM4_ENST00000374181.4_Silent_p.T823T NM_000841.2|NM_001256811.1 NP_000832.1|NP_001243740.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TCACCGAGACCGTCAGCGTCG 0.642000 73 51 7.81431e-29 8.47005e-29 1 1 0 UGT2B28 54490 broad.mit.edu 37 4 70146227 70146227 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:70146227G>A ENST00000335568.5 + 1 11 c.9G>A c.(7-9)ctG>ctA p.L3L UGT2B28_ENST00000511240.1_Silent_p.L3L NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 3 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GGATGGCTCTGAAGTGGACTT 0.408000 126 243 0 0 1 0 0 RBMY2EP 159125 broad.mit.edu 37 Y 23557842 23557842 + RNA SNP T T A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrY:23557842T>A ENST00000444169.1 - 0 215 NR_001574.2 GCATAATCCCTGGTTTCTTGG 0.353000 128 7 0 0 1 0 0 AZGP1 563 broad.mit.edu 37 7 99564778 99564778 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:99564778C>G ENST00000292401.4 - 4 881 c.745G>C c.(745-747)Gag>Cag p.E249Q AZGP1_ENST00000483612.1_5'UTR|AZGP1_ENST00000411734.1_3'UTR NM_001185.3 NP_001176.1 P25311 ZA2G_HUMAN alpha-2-glycoprotein 1, zinc-binding 249 Ig-like C1-type. antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation extracellular region|MHC class I protein complex fatty acid binding|protein transmembrane transporter activity|ribonuclease activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) CCCCGTAACTCAGGCTCCTGC 0.587000 14 30 0 0 1 0 0 GAB2 9846 broad.mit.edu 37 11 77934481 77934481 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:77934481C>T ENST00000361507.4 - 6 1629 c.1544G>A c.(1543-1545)cGc>cAc p.R515H GAB2_ENST00000340149.2_Missense_Mutation_p.R477H NM_080491.2 NP_536739.1 Q9UQC2 GAB2_HUMAN GRB2-associated binding protein 2 515 osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation cytosol|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity INTS4/GAB2(2) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.58e-23) TTTGAGGTTGCGGTTGACAGG 0.547000 6 717 0 0 1 0 0 PAK1IP1 55003 broad.mit.edu 37 6 10695300 10695300 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:10695300G>A ENST00000379568.3 + 1 373 c.82G>A c.(82-84)Gag>Aag p.E28K NM_017906.2 NP_060376.2 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 28 negative regulation of signal transduction nucleolus|plasma membrane p.E28*(1) kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) CGGCGACCACGAGGTGAGATA 0.622000 44 30 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55627909 55627909 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:55627909C>T ENST00000294383.6 - 8 955 c.956G>A c.(955-957)gGa>gAa p.G319E USP24_ENST00000407756.1_Missense_Mutation_p.G207E NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 319 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 TGCACACACTCCTAAGGGCTG 0.373000 4 17 0 0 1 0 0 DSE 29940 broad.mit.edu 37 6 116757173 116757173 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:116757173G>C ENST00000331677.3 + 7 1986 c.1542G>C c.(1540-1542)aaG>aaC p.K514N DSE_ENST00000537543.1_Missense_Mutation_p.K533N|DSE_ENST00000452085.3_Missense_Mutation_p.K514N|DSE_ENST00000359564.2_Missense_Mutation_p.K514N Q9UL01 DSE_HUMAN dermatan sulfate epimerase 514 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CTAAATACAAGCATGACCTGG 0.498000 34 29 0 0 1 0 0 OR7A5 26659 broad.mit.edu 37 19 14939056 14939056 + Translation_Start_Site SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:14939056G>C ENST00000322301.3 - 0 85 OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_De_novo_Start_OutOfFrame Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 GGTTCCATTTGATTGAAGTGA 0.398000 28 47 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9864259 9864259 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:9864259G>A ENST00000380913.3 + 4 2401 c.2311G>A c.(2311-2313)Gag>Aag p.E771K NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 771 ASD1. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GAAGATGAACGAGGTGGGCCT 0.577000 20 4 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70489016 70489016 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:70489016G>A ENST00000310961.5 + 18 2072 c.1654G>A c.(1654-1656)Gca>Aca p.A552T LRRC7_ENST00000035383.5_Missense_Mutation_p.A547T|LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 547 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 ATTGCCAGTTGCAGCACAATC 0.542000 32 72 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87190668 87190668 + Silent SNP C C G rs28381867 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:87190668C>G ENST00000265724.3 - 9 1155 c.738G>C c.(736-738)gcG>gcC p.A246A ABCB1_ENST00000543898.1_Silent_p.A182A NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 246 ABC transmembrane type-1 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CTTTTGCATACGCTAAGAGTT 0.323000 16 17 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40728840 40728840 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:40728840G>C ENST00000298910.7 + 40 5887 c.5829G>C c.(5827-5829)cgG>cgC p.R1943R NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1943 Protein kinase. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTCGTCCCCGGATGTTGGTGA 0.527000 22 36 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175896821 175896821 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:175896821C>T ENST00000359240.3 + 5 815 c.145C>T c.(145-147)Cca>Tca p.P49S ADAM29_ENST00000445694.1_Missense_Mutation_p.P49S|ADAM29_ENST00000404450.4_Missense_Mutation_p.P49S|ADAM29_ENST00000514159.1_Missense_Mutation_p.P49S NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 49 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CATGACACCTCCAGGCTGGCT 0.512000 31 30 0 0 1 0 0 RASD2 23551 broad.mit.edu 37 22 35947630 35947630 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:35947630G>C ENST00000216127.4 + 3 994 c.352G>C c.(352-354)Gag>Cag p.E118Q NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 118 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 GCAGATCCTGGAGGTCAAGTC 0.597000 20 75 0 0 1 0 0 TTPAL 79183 broad.mit.edu 37 20 43117934 43117934 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:43117934C>G ENST00000372904.3 + 6 924 c.781C>G c.(781-783)Ctc>Gtc p.L261V TTPAL_ENST00000262605.4_Missense_Mutation_p.L261V|TTPAL_ENST00000372906.2_3'UTR NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 261 CRAL-TRIO. intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 CTTGAACTCTCTCCACACAAA 0.507000 37 65 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14620502 14620502 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:14620502G>T ENST00000403951.2 - 19 2016 c.1597C>A c.(1597-1599)Ctg>Atg p.L533M DGKB_ENST00000258767.5_Missense_Mutation_p.L533M|DGKB_ENST00000407950.1_Missense_Mutation_p.L525M|DGKB_ENST00000406247.3_Missense_Mutation_p.L533M|DGKB_ENST00000444700.2_Missense_Mutation_p.L514M|DGKB_ENST00000402815.1_Missense_Mutation_p.L532M|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.L533M Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 533 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) CCCCATCGCAGGCATCTTGCT 0.418000 31 16 1.45844e-13 1.55544e-13 1 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62856984 62856984 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:62856984C>G ENST00000584306.1 - 11 3810 c.3280G>C c.(3280-3282)Gac>Cac p.D1094H LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D71H|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D212H|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D132H|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1094H NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1094 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CCACTGCTGTCTGAGGGCTCC 0.473000 207 138 0 0 1 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158619 26158619 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:26158619C>T ENST00000289316.2 + 1 246 c.222C>T c.(220-222)atC>atT p.I74I HIST1H2BD_ENST00000377777.4_Silent_p.I74I NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 74 nucleosome assembly nucleosome|nucleus DNA binding breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 TCGAGCGCATCGCAGGCGAGG 0.602000 101 76 0 0 1 0 0 GAPT 202309 broad.mit.edu 37 5 57790589 57790589 + Nonsense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:57790589G>T ENST00000396776.2 + 3 688 c.226G>T c.(226-228)Gaa>Taa p.E76* GAPT_ENST00000318469.2_Nonsense_Mutation_p.E76* NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 76 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 AATCTCAGTTGAAACCCAAGA 0.438000 33 19 2.75727e-19 2.96447e-19 1 1 0 APLP2 334 broad.mit.edu 37 11 130005479 130005479 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:130005479G>C ENST00000263574.5 + 13 1778 c.1706G>C c.(1705-1707)cGt>cCt p.R569P APLP2_ENST00000278756.7_Missense_Mutation_p.R579P|APLP2_ENST00000345598.5_Missense_Mutation_p.R340P|APLP2_ENST00000543137.1_Missense_Mutation_p.R476P|APLP2_ENST00000528499.1_Missense_Mutation_p.R513P|APLP2_ENST00000338167.5_Missense_Mutation_p.R569P|APLP2_ENST00000539648.1_Missense_Mutation_p.R357P NM_001642.2 NP_001633.1 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 569 G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) CAGGAGCAGCGTGCAGATATG 0.582000 50 33 0 0 1 0 0 LILRB3 11025 broad.mit.edu 37 19 54721190 54721190 + Missense_Mutation SNP C C T rs145192800 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:54721190C>T ENST00000391750.1 - 13 1883 c.1747G>A c.(1747-1749)Gag>Aag p.E583K LILRB3_ENST00000346401.6_Missense_Mutation_p.E595K|LILRB3_ENST00000407860.2_Missense_Mutation_p.E600K|LILRA6_ENST00000391735.3_3'UTR|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.E584K|LILRB3_ENST00000245620.9_Missense_Mutation_p.E584K|LILRB3_ENST00000424807.1_Missense_Mutation_p.E583K|LILRA6_ENST00000440558.2_Missense_Mutation_p.E583K|LILRA6_ENST00000270464.5_Missense_Mutation_p.E584K O75022 LIRB3_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 583 cell surface receptor linked signaling pathway|defense response integral to plasma membrane transmembrane receptor activity endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 34 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGACTCACCTCAGTGTCCATC 0.602000 6 46 0 0 1 0 0 OPTN 10133 broad.mit.edu 37 10 13161005 13161005 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:13161005G>A ENST00000378748.3 + 8 1106 c.744G>A c.(742-744)gaG>gaA p.E248E OPTN_ENST00000378747.3_Silent_p.E248E|OPTN_ENST00000378764.2_Silent_p.E242E|OPTN_ENST00000263036.5_Silent_p.E248E|OPTN_ENST00000378757.2_Silent_p.E248E|OPTN_ENST00000378752.3_Silent_p.E242E NM_001008211.1|NM_001008213.1 NP_001008212|NP_001008214 Q96CV9 OPTN_HUMAN optineurin 248 cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 AGAAGGTGGAGAGACTTGAAG 0.423000 24 40 0 0 1 0 0 CDCA5 113130 broad.mit.edu 37 11 64847055 64847055 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:64847055C>G ENST00000275517.3 - 5 620 c.448G>C c.(448-450)Gag>Cag p.E150Q CDCA5_ENST00000404147.3_Missense_Mutation_p.E150Q NM_080668.3 NP_542399.1 Q96FF9 CDCA5_HUMAN cell division cycle associated 5 150 cell division|double-strand break repair|G1/S transition of mitotic cell cycle|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CCCAGGGTCTCCAGCCGGCTG 0.627000 16 25 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1475206 1475206 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:1475206C>T ENST00000331035.4 + 7 1058 c.709C>T c.(709-711)Cgc>Tgc p.R237C IL3RA_ENST00000381469.2_Missense_Mutation_p.R159C NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 237 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TCGCAAATTTCGCTATGAGCT 0.463000 69 77 0 0 1 0 0 SLU7 10569 broad.mit.edu 37 5 159839516 159839516 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:159839516G>A ENST00000297151.4 - 6 968 c.581C>T c.(580-582)aCa>aTa p.T194I NM_006425.4 NP_006416.3 O95391 SLU7_HUMAN SLU7 splicing factor homolog (S. cerevisiae) 194 alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1) 20 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGCTTTCAATGTTCGTTTTGC 0.274000 14 16 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49881979 49881979 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:49881979C>G ENST00000299338.6 - 4 634 c.331G>C c.(331-333)Gag>Cag p.E111Q FAM227B_ENST00000558594.1_Missense_Mutation_p.E111Q|FAM227B_ENST00000560246.1_Missense_Mutation_p.E111Q|FAM227B_ENST00000561064.1_Missense_Mutation_p.E111Q|FAM227B_ENST00000558862.1_5'UTR NM_152647.2 NP_689860.2 family with sequence similarity 227, member B TCACTTGTCTCAGAAATCATG 0.348000 16 10 0 0 1 0 0 ADCY7 113 broad.mit.edu 37 16 50348262 50348262 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:50348262G>C ENST00000394697.2 + 24 3256 c.2916G>C c.(2914-2916)atG>atC p.M972I ADCY7_ENST00000254235.3_Missense_Mutation_p.M972I P51828 ADCY7_HUMAN adenylate cyclase 7 972 Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TCGCCCTGATGAGTAAGCTGG 0.632000 102 45 0 0 1 0 0 ZFP3 124961 broad.mit.edu 37 17 4995011 4995011 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:4995011C>G ENST00000318833.3 + 2 548 c.212C>G c.(211-213)tCa>tGa p.S71* NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 71 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 GACTTTCCATCAGGGTTGATG 0.468000 5 34 0 0 1 0 0 TEX37 200523 broad.mit.edu 37 2 88828629 88828629 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:88828629C>T ENST00000303254.3 + 4 322 c.180C>T c.(178-180)ccC>ccT p.P60P NM_152670.2 NP_689883.1 testis expressed 37 TCCCTAACCCCAACCCCAAGC 0.527000 26 57 0 0 1 0 0 BAG4 9530 broad.mit.edu 37 8 38065106 38065106 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:38065106C>G ENST00000287322.4 + 3 726 c.455C>G c.(454-456)tCa>tGa p.S152* BAG4_ENST00000432471.2_Nonsense_Mutation_p.S116*|BAG4_ENST00000521282.1_3'UTR NM_004874.3 NP_004865.1 O95429 BAG4_HUMAN BCL2-associated athanogene 4 152 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GCCTCATACTCAGGGGCTTAT 0.463000 5 43 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38569944 38569944 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr21:38569944G>A ENST00000399017.2 + 43 8400 c.5653G>A c.(5653-5655)Gaa>Aaa p.E1885K TTC3_ENST00000354749.2_Missense_Mutation_p.E1885K|TTC3_ENST00000355666.1_Missense_Mutation_p.E1885K|TTC3_ENST00000479930.1_3'UTR NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1885 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) GAGTATTGATGAAATTGTCCA 0.328000 30 19 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27220739 27220739 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:27220739C>T ENST00000361720.5 - 3 1062 c.1039G>A c.(1039-1041)Gag>Aag p.E347K NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 347 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) CCTTCTTCCTCCTGCCAGAAC 0.552000 44 73 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233122163 233122163 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:233122163G>A ENST00000258229.9 - 33 6149 c.5915C>T c.(5914-5916)tCa>tTa p.S1972L PCNXL2_ENST00000344698.2_Missense_Mutation_p.S624L NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) Ser-rich. integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CTCGTGCACTGAGGTGGACGT 0.667000 4 16 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32328367 32328367 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:32328367C>A ENST00000357033.4 - 42 6155 c.5949G>T c.(5947-5949)atG>atT p.M1983I DMD_ENST00000378677.2_Missense_Mutation_p.M1979I NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1983 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) CAGTCATCACCATCATCGTTT 0.368000 13 21 1.5842e-08 1.66475e-08 1 1 0 KLHL12 59349 broad.mit.edu 37 1 202863829 202863829 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:202863829C>T ENST00000367261.3 - 9 1402 c.1184G>A c.(1183-1185)aGt>aAt p.S395N KLHL12_ENST00000367259.1_Missense_Mutation_p.S128N|KLHL12_ENST00000435533.3_Missense_Mutation_p.S433N NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 395 Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) GCGCTCCATACTGGTGTGACG 0.478000 101 126 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48457019 48457019 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:48457019G>C ENST00000358536.4 - 19 4036 c.3767C>G c.(3766-3768)tCt>tGt p.S1256C PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000456774.1_Missense_Mutation_p.S1073C|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.S1256C|PLXNB1_ENST00000358459.4_Missense_Mutation_p.S1073C NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1256 IPT/TIG 3. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGGGCCAGCAGAGGTGATGTT 0.622000 3 4 0 0 1 0 0 ZNF330 27309 broad.mit.edu 37 4 142155112 142155112 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:142155112G>T ENST00000262990.4 + 10 1160 c.932G>T c.(931-933)gGc>gTc p.G311V ZNF330_ENST00000421169.2_Missense_Mutation_p.G251V NM_014487.4 NP_055302.1 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 311 chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(180;0.162) TATGCTAGTGGCTATGCTCAC 0.453000 67 59 2.49587e-40 2.73399e-40 1 1 0 CPD 1362 broad.mit.edu 37 17 28754559 28754559 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:28754559C>T ENST00000225719.4 + 7 2076 c.2000C>T c.(1999-2001)tCa>tTa p.S667L CPD_ENST00000543464.2_Missense_Mutation_p.S420L NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 667 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 TTTGTACTTTCAGCAAACCTG 0.393000 60 89 0 0 1 0 0 STK3 6788 broad.mit.edu 37 8 99539008 99539008 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:99539008C>G ENST00000523601.1 - 12 1762 c.1363G>C c.(1363-1365)Gat>Cat p.D455H STK3_ENST00000419617.2_Missense_Mutation_p.D427H NM_001256312.1 NP_001243241.1 Q13188 STK3_HUMAN serine/threonine kinase 3 427 SARAH. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 17 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) TTCCAGTTATCAGGAAAAACG 0.333000 38 65 0 0 1 0 0 ARSI 340075 broad.mit.edu 37 5 149677095 149677095 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:149677095G>A ENST00000328668.7 - 2 1971 c.1392C>T c.(1390-1392)ctC>ctT p.L464L NM_001012301.2 NP_001012301.1 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I 464 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 23 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGATGTTGAAGAGCCACACGG 0.632000 5 64 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137762927 137762927 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:137762927G>A ENST00000314358.5 + 19 4752 c.4552G>A c.(4552-4554)Gat>Aat p.D1518N KDM3B_ENST00000394866.1_Missense_Mutation_p.D1174N|KDM3B_ENST00000542866.1_Missense_Mutation_p.D550N NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1518 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 TACCAAACGAGATGGCAGGCT 0.468000 6 98 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34236434 34236434 + RNA SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:34236434G>C ENST00000587132.1 - 0 1593 TGCTGAGCTTGATCCTGACCC 0.493000 11 37 0 0 1 0 0 SRL 6345 broad.mit.edu 37 16 4242602 4242602 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:4242602C>T ENST00000399609.3 - 6 986 c.974G>A c.(973-975)aGa>aAa p.R325K SRL_ENST00000537996.1_Missense_Mutation_p.R283K NM_001098814.1 NP_001092284.1 Q86TD4 SRCA_HUMAN sarcalumenin 784 Acidic domain, probably binds calcium (By similarity). sarcoplasmic reticulum lumen GTP binding|GTPase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3) 21 GTTCTCCAGTCTGTTCTCGAT 0.537000 8 120 0 0 1 0 0 ADCK5 203054 broad.mit.edu 37 8 145617862 145617862 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:145617862C>G ENST00000308860.6 + 13 1514 c.1470C>G c.(1468-1470)atC>atG p.I490M NM_174922.3 NP_777582.4 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 490 integral to membrane protein serine/threonine kinase activity endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) TGCGCGCTATCAACGTGGCCC 0.697000 20 6 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135116329 135116329 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:135116329G>A ENST00000393229.3 + 7 2031 c.1255G>A c.(1255-1257)Gac>Aac p.D419N NTNG2_ENST00000393228.4_Missense_Mutation_p.D411N|NTNG2_ENST00000360670.3_Missense_Mutation_p.D425N|NTNG2_ENST00000490694.1_3'UTR NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 419 Laminin EGF-like 3. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CTCCGTGCACGACCGGTGCAA 0.697000 16 3 0 0 1 0 0 MZT2A 653784 broad.mit.edu 37 2 132241715 132241715 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:132241715C>G ENST00000309451.6 - 3 441 c.396G>C c.(394-396)caG>caC p.Q132H MZT2A_ENST00000410036.2_5'UTR NM_001085365.1 NP_001078834.1 Q6P582 MZT2A_HUMAN mitotic spindle organizing protein 2A 132 centrosome|gamma-tubulin ring complex|spindle breast(1)|lung(1) 2 GTGGCATCCTCTGGCTGGATC 0.647000 70 29 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30893019 30893019 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:30893019C>T ENST00000265299.6 + 12 1698 c.1621C>T c.(1621-1623)Cac>Tac p.H541Y INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.H4Y|AQP1_ENST00000434909.2_5'UTR NM_032222.2 NP_115598.2 Q4G0A6 F188B_HUMAN family with sequence similarity 188, member B 541 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTTACGCTTCACAGTTTGAC 0.502000 15 33 0 0 1 0 0 FARS2 10667 broad.mit.edu 37 6 5368821 5368821 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:5368821C>T ENST00000324331.6 + 2 354 c.18C>T c.(16-18)ctC>ctT p.L6L FARS2_ENST00000274680.4_Silent_p.L6L O95363 SYFM_HUMAN phenylalanyl-tRNA synthetase 2, mitochondrial 6 phenylalanyl-tRNA aminoacylation|tRNA processing mitochondrial matrix|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2) 15 Ovarian(93;0.11) all_hematologic(90;0.0104) L-Phenylalanine(DB00120) GCTCAGCTCTCAGGAGAGGTG 0.547000 52 31 0 0 1 0 0 GMPR2 51292 broad.mit.edu 37 14 24707973 24707973 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:24707973G>C ENST00000557854.1 + 8 1550 c.1273G>C c.(1273-1275)Gag>Cag p.E425Q GMPR2_ENST00000348719.7_Missense_Mutation_p.E407Q|GMPR2_ENST00000559836.1_Missense_Mutation_p.E346Q|GMPR2_ENST00000559910.1_Missense_Mutation_p.E313Q|GMPR2_ENST00000399440.2_Missense_Mutation_p.E346Q|GMPR2_ENST00000456667.3_Missense_Mutation_p.E318Q|GMPR2_ENST00000420554.2_Missense_Mutation_p.E364Q|GMPR2_ENST00000355299.4_Missense_Mutation_p.E346Q|GMPR2_ENST00000559104.1_Missense_Mutation_p.E331Q NM_001283022.1 NP_001269951.1 Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 346 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) AATCTTCAGTGAGGCGTGCTA 0.557000 30 2 0 0 1 0 0 NADSYN1 55191 broad.mit.edu 37 11 71191848 71191848 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:71191848C>T ENST00000319023.2 + 11 1109 c.921C>T c.(919-921)ctC>ctT p.L307L NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000539574.1_Silent_p.L47L|NADSYN1_ENST00000530055.1_5'UTR NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 307 NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) ACTTTGCCCTCTCGTGCCACG 0.597000 29 5 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626493 1626493 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:1626493C>A ENST00000421627.2 + 9 2296 c.2162C>A c.(2161-2163)tCa>tAa p.S721* DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 800 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CAGTTCGGCTCATCCTTCCAG 0.612000 33 8 2.80507e-11 2.96782e-11 1 1 0 LAMB3 3914 broad.mit.edu 37 1 209800260 209800260 + Missense_Mutation SNP G G A rs78788119 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:209800260G>A ENST00000391911.1 - 12 1938 c.1549C>T c.(1549-1551)Cgc>Tgc p.R517C LAMB3_ENST00000367030.3_Missense_Mutation_p.R517C|LAMB3_ENST00000356082.4_Missense_Mutation_p.R517C NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 517 Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGACACTGGCGGATGGCTGCA 0.667000 12 24 0 0 1 0 0 RILPL1 353116 broad.mit.edu 37 12 123984052 123984052 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:123984052C>A ENST00000376874.4 - 3 727 c.492G>T c.(490-492)aaG>aaT p.K164N RILPL1_ENST00000340724.6_Missense_Mutation_p.K12N NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 164 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) CCTTCAGCTTCTTCATCACCT 0.572000 7 43 7.48243e-07 7.76636e-07 1 1 0 IRS2 8660 broad.mit.edu 37 13 110435761 110435761 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:110435761G>A ENST00000375856.3 - 1 3154 c.2640C>T c.(2638-2640)ttC>ttT p.F880F NM_003749.2 NP_003740.2 Q9Y4H2 IRS2_HUMAN insulin receptor substrate 2 880 fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus cytosol|plasma membrane insulin receptor binding|signal transducer activity kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 19 all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155) Breast(118;0.159) all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147) GCTGGCCCAAGAAGCCCTCCG 0.771000 5 2 0 0 1 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148787895 148787895 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:148787895C>G ENST00000336498.3 + 7 869 c.630C>G c.(628-630)ttC>ttG p.F210L NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 210 BAR. apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) TGTTTACCTTCTATCATCAGG 0.338000 OREG0016355 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 95 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55855391 55855391 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:55855391G>C ENST00000422046.2 - 5 860 c.579C>G c.(577-579)gaC>gaG p.D193E CES1_ENST00000566555.1_5'UTR|CES1_ENST00000360526.3_Missense_Mutation_p.D194E|CES1_ENST00000361503.4_Missense_Mutation_p.D193E P23141 EST1_HUMAN carboxylesterase 1 193 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) CAGCCACCTGGTCCAGGTGAC 0.597000 13 62 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132086582 132086582 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:132086582G>A ENST00000351273.7 + 11 1223 c.1173G>A c.(1171-1173)ctG>ctA p.L391L NM_001134194.1 NP_001127666.1 P15309 PPAP_HUMAN acid phosphatase, prostate 0 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 CCTTTTGCCTGATATCTGCTG 0.398000 79 222 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104679089 104679089 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:104679089G>C ENST00000369878.4 + 1 1040 c.852G>C c.(850-852)ccG>ccC p.P284P CNNM2_ENST00000433628.2_Silent_p.P284P|CNNM2_ENST00000369875.3_Silent_p.P284P NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 DUF21. ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CCCTGGACCCGATGGAGCTGC 0.622000 14 29 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84199470 84199470 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:84199470G>T ENST00000378553.5 + 7 1069 c.945G>T c.(943-945)aaG>aaT p.K315N DNAAF1_ENST00000563818.1_3'UTR|DNAAF1_ENST00000334315.5_Missense_Mutation_p.K315N NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 315 axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 GGGAGCGGAAGAAGATCACAG 0.547000 13 132 3.27435e-08 3.43696e-08 1 1 0 NDST3 9348 broad.mit.edu 37 4 119158324 119158324 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:119158324G>A ENST00000296499.5 + 10 2470 c.2067G>A c.(2065-2067)aaG>aaA p.K689K NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 689 Heparan sulfate N-sulfotransferase 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 CCAAAGCCAAGATTATCACCA 0.443000 23 42 0 0 1 0 0 COL10A1 1300 broad.mit.edu 37 6 116442971 116442971 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:116442971G>A ENST00000327673.4 - 2 715 c.308C>T c.(307-309)tCa>tTa p.S103L COL10A1_ENST00000243222.4_Missense_Mutation_p.S103L|AL121963.1_ENST00000430695.1_Missense_Mutation_p.D118N|NT5DC1_ENST00000319550.4_Intron Q03692 COAA1_HUMAN collagen, type X, alpha 1 103 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1) 13 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) CCCTACAGCTGATGGTCCCGG 0.592000 25 23 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5680995 5680995 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:5680995C>G ENST00000425013.2 - 15 2225 c.2001G>C c.(1999-2001)atG>atC p.M667I RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.M724I NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 667 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) GGGCAGCAGTCATTTTTTCTT 0.428000 30 12 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123132056 123132056 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:123132056G>C ENST00000264501.4 + 20 2426 c.2053G>C c.(2053-2055)Gag>Cag p.E685Q KIAA1109_ENST00000388738.3_Missense_Mutation_p.E685Q|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E685Q Q2LD37 K1109_HUMAN KIAA1109 685 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGAAATGGAAGAGACAATGCT 0.393000 29 41 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26232148 26232148 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:26232148C>T ENST00000354667.4 - 11 1218 c.1050G>A c.(1048-1050)agG>agA p.R350R HNRNPA2B1_ENST00000356674.7_Silent_p.R338R NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 350 Gly-rich. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 AGTATCGGCTCCTCCCACCAT 0.418000 T ETV1 prostate 39 145 0 0 1 0 0 KLHL35 283212 broad.mit.edu 37 11 75139672 75139672 + Splice_Site SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:75139672C>G ENST00000539798.1 - 2 881 c.e2-1 KLHL35_ENST00000376292.4_Splice_Site NM_001039548.2 NP_001034637.2 Q6PF15 KLH35_HUMAN kelch-like family member 35 lung(2)|stomach(1) 3 GTCCATGAATCTGGCGTGCGG 0.612000 18 64 0 0 1 0 0 HEYL 26508 broad.mit.edu 37 1 40095976 40095976 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:40095976G>A ENST00000372852.3 - 4 555 c.236C>T c.(235-237)tCt>tTt p.S79F HEYL_ENST00000535435.1_Missense_Mutation_p.S51F NM_014571.3 NP_055386 Q9NQ87 HEYL_HUMAN hes-related family bHLH transcription factor with YRPW motif-like 79 Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). 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) CAGCTTGGAAGAGCCCTGCGG 0.542000 6 351 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31021332 31021332 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:31021332C>G ENST00000375687.4 + 12 1755 c.1331C>G c.(1330-1332)tCa>tGa p.S444* ASXL1_ENST00000306058.5_Nonsense_Mutation_p.S439* NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 444 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 TCTGTGGCCTCAGATGTTCCC 0.562000 """F, N, Mis""" """MDS, CMML""" 79 184 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78592390 78592390 + Missense_Mutation SNP A A G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:78592390A>G ENST00000397909.2 + 36 6625 c.6452A>G c.(6451-6453)tAt>tGt p.Y2151C NAV3_ENST00000536525.2_Missense_Mutation_p.Y2129C|NAV3_ENST00000228327.6_Missense_Mutation_p.Y2129C|NAV3_ENST00000266692.7_Missense_Mutation_p.Y1952C Q8IVL0 NAV3_HUMAN neuron navigator 3 2151 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 tCTAGTCCATATATTATTGGA 0.274000 HNSCC(70;0.22) 48 32 0 0 1 0 0 FAM19A5 25817 broad.mit.edu 37 22 48972292 48972292 + Translation_Start_Site SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:48972292G>A ENST00000358295.5 + 0 175 FAM19A5_ENST00000402357.1_Intron|FAM19A5_ENST00000473898.1_3'UTR NM_015381.5 NP_056196.2 Q7Z5A7 F19A5_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 extracellular region|integral to membrane large_intestine(1)|lung(6) 7 all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195) UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119) GGGACTCCGCGATGCAGCTCC 0.697000 4 8 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52468933 52468933 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:52468933C>T ENST00000243644.4 - 5 1000 c.773G>A c.(772-774)gGa>gAa p.G258E HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 258 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) AGGTTTTTCTCCTGTATGAGT 0.423000 24 70 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42251402 42251402 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:42251402G>A ENST00000327628.5 + 14 2288 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Missense_Mutation_p.E572K|TRAK1_ENST00000396175.1_Missense_Mutation_p.E572K NM_001042646.2 NP_001036111.1 Q9UPV9 TRAK1_HUMAN trafficking protein, kinesin binding 1 630 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CGACTTTGAAGAAGATGACAC 0.587000 7 153 0 0 1 0 0 GRIK4 2900 broad.mit.edu 37 11 120811137 120811137 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:120811137C>G ENST00000527524.2 + 14 1845 c.1558C>G c.(1558-1560)Ctg>Gtg p.L520V GRIK4_ENST00000438375.2_Missense_Mutation_p.L520V NM_001282470.1 NP_001269399.1 Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 520 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) ATTCATGACTCTGGGAATTAG 0.403000 46 8 0 0 1 0 0 SMC6 79677 broad.mit.edu 37 2 17889926 17889926 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:17889926C>G ENST00000448223.2 - 17 2094 c.1825G>C c.(1825-1827)Gag>Cag p.E609Q SMC6_ENST00000402989.1_Missense_Mutation_p.E609Q|SMC6_ENST00000351948.4_Missense_Mutation_p.E609Q|SMC6_ENST00000381272.4_Missense_Mutation_p.E635Q NM_001142286.1 NP_001135758.1 Q96SB8 SMC6_HUMAN structural maintenance of chromosomes 6 609 Flexible hinge. DNA recombination|DNA repair chromosome|nucleus ATP binding NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGCACTGTCTCTATGCCTCTC 0.343000 11 37 0 0 1 0 0 PPP2R3B 28227 broad.mit.edu 37 X 295189 295189 + Missense_Mutation SNP C C G rs143890778 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:295189C>G ENST00000390665.3 - 13 1659 c.1641G>C c.(1639-1641)caG>caC p.Q547H NM_013239.4 NP_037371.2 Q9Y5P8 P2R3B_HUMAN protein phosphatase 2, regulatory subunit B'', beta 547 cell cycle arrest|protein dephosphorylation nucleus|protein phosphatase type 2A complex calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity endometrium(5)|lung(5)|skin(1) 11 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGAAGGGCCTCTGGGCCAGCG 0.706000 29 22 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6185886 6185886 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:6185886C>T ENST00000262450.3 - 27 4210 c.4111G>A c.(4111-4113)Gaa>Aaa p.E1371K CHD5_ENST00000378021.1_Missense_Mutation_p.E228K NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1371 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ATGGAATATTCTGACTGGTTA 0.552000 157 127 0 0 1 0 0 SPERT 220082 broad.mit.edu 37 13 46287777 46287777 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:46287777C>G ENST00000378966.3 + 2 925 c.509C>G c.(508-510)tCg>tGg p.S170W SPERT_ENST00000310521.1_Missense_Mutation_p.S206W Q8NA61 SPERT_HUMAN spermatid associated 206 cytoplasmic membrane-bounded vesicle NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 15 Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;7.26e-05) CACAAGGCCTCGCTGGGCCGA 0.642000 44 30 0 0 1 0 0 OGG1 4968 broad.mit.edu 37 3 9798753 9798753 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:9798753C>T ENST00000302003.7 + 7 1317 c.974C>T c.(973-975)tCa>tTa p.S325L OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000344629.7_Silent_p.F319F|OGG1_ENST00000339511.5_3'UTR NM_002542.5|NM_016820.3 NP_002533.1|NP_058213.1 O15527 OGG1_HUMAN 8-oxoguanine DNA glycosylase 0 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 8 Medulloblastoma(99;0.227) AGGTGCTGTTCAGTGCCGACC 0.602000 Base excision repair (BER), DNA glycosylases 11 302 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132379588 132379588 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:132379588C>G ENST00000321867.4 + 1 393 c.42C>G c.(40-42)ttC>ttG p.F14L NM_003565.2 NP_003556 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 14 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TGGGCAAGTTCGAGTTCTCCC 0.776000 4 14 0 0 1 0 0 SRPK2 6733 broad.mit.edu 37 7 104782915 104782915 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:104782915C>T ENST00000357311.3 - 10 1221 c.1050G>A c.(1048-1050)gaG>gaA p.E350E SRPK2_ENST00000393651.3_Silent_p.E361E|SRPK2_ENST00000489828.1_Silent_p.E350E NM_001278273.1|NM_182691.1 NP_001265202.1|NP_872633.1 P78362 SRPK2_HUMAN SRSF protein kinase 2 350 Protein kinase. angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly cytoplasm|nucleolus 14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 35 CATCTTCTTTCTCTTCCTGGT 0.378000 5 71 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112174552 112174552 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:112174552C>G ENST00000457016.1 + 16 3641 c.3261C>G c.(3259-3261)ctC>ctG p.L1087L APC_ENST00000508376.2_Silent_p.L1087L|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.L1087L P25054 APC_HUMAN adenomatous polyposis coli 1087 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.L1087L(1)|p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATAAACACCTCAAGTTCCAAC 0.388000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 22 180 0 0 1 0 0 ZNF776 284309 broad.mit.edu 37 19 58265746 58265746 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:58265746G>A ENST00000317178.5 + 3 1511 c.1248G>A c.(1246-1248)aaG>aaA p.K416K ZNF776_ENST00000489376.1_3'UTR NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) TTAGGTACAAGTCACACCTCA 0.423000 5 128 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40364331 40364331 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:40364331C>T ENST00000221347.6 - 31 14318 c.14311G>A c.(14311-14313)Gaa>Aaa p.E4771K NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4771 TIL 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) ACACAGCCTTCACGGCAGGCC 0.652000 54 74 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981489 201981489 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:201981489G>A ENST00000359651.3 + 3 3595 c.403G>A c.(403-405)Gag>Aag p.E135K ELF3_ENST00000367284.5_Missense_Mutation_p.E135K|ELF3_ENST00000367283.3_Missense_Mutation_p.E135K|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000495848.1_3'UTR P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 135 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CTCTTCTGATGAGCTCAGTTG 0.572000 40 51 0 0 1 0 0 CLSPN 63967 broad.mit.edu 37 1 36212422 36212422 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:36212422C>G ENST00000251195.5 - 15 2895 c.2799G>C c.(2797-2799)aaG>aaC p.K933N CLSPN_ENST00000520551.1_Missense_Mutation_p.K880N|CLSPN_ENST00000373220.3_Missense_Mutation_p.K869N|CLSPN_ENST00000318121.3_Missense_Mutation_p.K933N Q9HAW4 CLSPN_HUMAN claspin 933 SDK -> GDE (in Ref. 3; AAI15026). activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation nucleoplasm anaphase-promoting complex binding|DNA binding NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 56 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TGTTCTCTTTCTTGTCACTCT 0.428000 39 43 0 0 1 0 0 RABEPK 10244 broad.mit.edu 37 9 127996110 127996110 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:127996110G>C ENST00000373538.3 + 8 1280 c.970G>C c.(970-972)Gag>Cag p.E324Q RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Missense_Mutation_p.E273Q|RABEPK_ENST00000394125.4_Missense_Mutation_p.E324Q NM_005833.3 NP_005824.2 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 324 receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 CCATGAAGCTGAGAAAGAGGA 0.478000 47 9 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73460037 73460037 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:73460037G>A ENST00000556143.1 - 4 1737 c.1017C>T c.(1015-1017)ctC>ctT p.L339L ZFYVE1_ENST00000318876.5_Silent_p.L339L|ZFYVE1_ENST00000553891.1_Silent_p.L339L NM_001281735.1|NM_021260.2 NP_001268664.1|NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 339 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GGTCCTGGATGAGCTTCTCTG 0.483000 5 49 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22962450 22962450 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:22962450G>C ENST00000313077.7 + 20 2295 c.2170G>C c.(2170-2172)Gat>Cat p.D724H CYFIP1_ENST00000560848.1_Missense_Mutation_p.D724H|CYFIP1_ENST00000435939.2_Missense_Mutation_p.D293H NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 724 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 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;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) TTTGCTTCTTGATAAACGGTT 0.433000 11 33 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79781631 79781631 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:79781631C>T ENST00000372371.3 - 7 1172 c.1035G>A c.(1033-1035)ctG>ctA p.L345L NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 345 innate immune response|positive regulation of interferon-beta production|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|ribonucleoside binding|zinc ion binding p.L345L(1) breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GTTTTCCCTTCAGGCGTTGGA 0.537000 8 57 0 0 1 0 0 SLC52A2 79581 broad.mit.edu 37 8 145583671 145583671 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:145583671G>A ENST00000532887.1 + 3 1102 c.519G>A c.(517-519)ccG>ccA p.P173P SLC52A2_ENST00000402965.1_Silent_p.P173P|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000527078.1_Silent_p.P173P|SLC52A2_ENST00000530047.1_Silent_p.P173P|SLC52A2_ENST00000329994.2_Silent_p.P173P|SLC52A2_ENST00000540505.1_Silent_p.P85P Q9HAB3 RFT3_HUMAN solute carrier family 52 (riboflavin transporter), member 2 173 integral to plasma membrane receptor activity|riboflavin transporter activity TCGAGTGCCCGCCAGCCCCCA 0.657000 6 236 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29562997 29562997 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:29562997C>T ENST00000358273.4 + 29 4315 c.3932C>T c.(3931-3933)tCc>tTc p.S1311F NF1_ENST00000356175.3_Missense_Mutation_p.S1311F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1311 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTGATCACATCCTCTGATTGG 0.363000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 6 150 0 0 1 0 0 ZBTB24 9841 broad.mit.edu 37 6 109802512 109802512 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:109802512C>G ENST00000230122.3 - 2 885 c.718G>C c.(718-720)Gat>Cat p.D240H NM_001164313.1|NM_014797.2 NP_001157785.1|NP_055612.2 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 240 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GTCTTGGGATCATAGTTCTCA 0.453000 141 97 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183560125 183560125 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:183560125G>C ENST00000317096.4 - 6 778 c.718C>G c.(718-720)Ctg>Gtg p.L240V PARL_ENST00000311101.5_Intron|PARL_ENST00000435888.1_Intron NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 240 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCTTGACCCAGAATGTTCACT 0.423000 10 236 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71568755 71568755 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:71568755G>A ENST00000304743.2 + 31 6084 c.5638G>A c.(5638-5640)Gaa>Aaa p.E1880K PCNX_ENST00000238570.5_Missense_Mutation_p.E1808K|PCNX_ENST00000439984.3_Missense_Mutation_p.E1769K|PCNX_ENST00000556272.1_3'UTR NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 1880 integral to membrane NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) TGTGCTCTATGAAGCCATAGT 0.388000 56 9 0 0 1 0 0 TUBG2 27175 broad.mit.edu 37 17 40811902 40811902 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:40811902G>C ENST00000251412.7 + 2 299 c.100G>C c.(100-102)Gag>Cag p.E34Q NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 34 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) TATCAGCCCCGAGGGCATCGT 0.652000 3 78 0 0 1 0 0 TXNDC16 57544 broad.mit.edu 37 14 52985902 52985902 + Missense_Mutation SNP T T C rs141505627 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:52985902T>C ENST00000281741.4 - 7 873 c.502A>G c.(502-504)Att>Gtt p.I168V TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 168 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) GGTATTCCAATGGCTCTTACA 0.308000 5 43 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77649123 77649123 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:77649123C>T ENST00000354212.4 - 22 4130 c.3877G>A c.(3877-3879)Gac>Aac p.D1293N MAGI2_ENST00000522391.1_3'UTR|MAGI2_ENST00000419488.1_Missense_Mutation_p.D1279N NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1293 cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TTCCTAACGTCGTGTTCCCGT 0.642000 6 126 0 0 1 0 0 MAPK13 5603 broad.mit.edu 37 6 36106508 36106508 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:36106508G>T ENST00000211287.4 + 10 1054 c.792G>T c.(790-792)caG>caT p.Q264H MAPK13_ENST00000373761.6_Missense_Mutation_p.Q254H|MAPK13_ENST00000373766.5_Missense_Mutation_p.D214Y|MAPK13_ENST00000373759.1_Missense_Mutation_p.D136Y NM_002754.4 NP_002745.1 O15264 MK13_HUMAN mitogen-activated protein kinase 13 264 Protein kinase. cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress ATP binding|MAP kinase activity|protein binding breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1) 12 CCCTGCCACAGACCCCCAGGA 0.597000 12 27 4.93089e-13 5.24683e-13 1 1 0 RYR3 6263 broad.mit.edu 37 15 33936642 33936642 + Missense_Mutation SNP G G A rs35231209 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:33936642G>A ENST00000389232.4 + 28 3757 c.3687G>A c.(3685-3687)atG>atA p.M1229I RYR3_ENST00000415757.3_Missense_Mutation_p.M1229I NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1229 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGTCAACATGAACAGAGATG 0.488000 9 24 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76567029 76567029 + Splice_Site SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:76567029C>G ENST00000389840.5 - 6 1043 c.e6+1 DNAH17_ENST00000585328.1_Splice_Site dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGCCTGCGCACCATCGTGAAG 0.473000 4 3 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99490105 99490105 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:99490105C>A ENST00000355947.2 - 7 1313 c.1184G>T c.(1183-1185)gGg>gTg p.G395V TRIM4_ENST00000349062.2_Missense_Mutation_p.G369V NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 395 B30.2/SPRY. protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) CCGACACACCCCAACAGCAAC 0.488000 10 288 2.17888e-05 2.22676e-05 1 1 0 B3GNT8 374907 broad.mit.edu 37 19 41932286 41932286 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:41932286C>G ENST00000321702.2 - 3 851 c.398G>C c.(397-399)gGa>gCa p.G133A B3GNT8_ENST00000601379.1_5'UTR NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 133 Poly-Gly. poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 GCCACCACCTCCAGGCAGCCA 0.637000 35 54 0 0 1 0 0 MBD1 4152 broad.mit.edu 37 18 47803233 47803233 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:47803233C>T ENST00000591416.1 - 4 792 c.361G>A c.(361-363)Gac>Aac p.D121N MBD1_ENST00000588937.1_Missense_Mutation_p.D121N|MBD1_ENST00000587605.1_Missense_Mutation_p.D121N|MBD1_ENST00000382948.5_Missense_Mutation_p.D121N|MBD1_ENST00000585672.1_Missense_Mutation_p.D121N|MBD1_ENST00000269468.5_Missense_Mutation_p.D121N|MBD1_ENST00000591535.1_Missense_Mutation_p.D121N|MBD1_ENST00000457839.2_Missense_Mutation_p.D121N|MBD1_ENST00000590208.1_Missense_Mutation_p.D121N|MBD1_ENST00000349085.2_Missense_Mutation_p.D121N|MBD1_ENST00000339998.6_Missense_Mutation_p.D121N|MBD1_ENST00000353909.3_Missense_Mutation_p.D121N|MBD1_ENST00000398488.1_Missense_Mutation_p.D121N|MBD1_ENST00000269471.5_Missense_Mutation_p.D121N|MBD1_ENST00000585595.1_Missense_Mutation_p.D121N|MBD1_ENST00000347968.3_Missense_Mutation_p.D121N|MBD1_ENST00000424334.2_Missense_Mutation_p.D147N|MBD1_ENST00000398495.2_Missense_Mutation_p.D121N|MBD1_ENST00000398493.1_Missense_Mutation_p.D121N|MBD1_ENST00000436910.1_Missense_Mutation_p.D121N Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 121 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 GGGGCTGTGTCAGTGTCAGCC 0.597000 6 156 0 0 1 0 0 IGLV2-8 28817 broad.mit.edu 37 22 23165548 23165548 + RNA SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:23165548C>G ENST00000390317.2 + 0 281 GTCACCATCTCCTGCACTGGA 0.557000 113 285 0 0 1 0 0 ST6GALNAC1 55808 broad.mit.edu 37 17 74639591 74639591 + Splice_Site SNP T T G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:74639591T>G ENST00000156626.7 - 1 329 c.130A>C c.(130-132)Agg>Cgg p.R44R ST6GALNAC1_ENST00000590878.1_5'UTR|ST6GALNAC1_ENST00000589992.1_Splice_Site_p.R44R NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 44 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 GAATCTTACCTGGAAGGCTTT 0.488000 12 21 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283128 33283128 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:33283128G>C ENST00000431845.2 - 2 1717 c.1566C>G c.(1564-1566)ttC>ttG p.F522L ZBTB22_ENST00000418724.1_Missense_Mutation_p.F522L NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GCTTCATCTTGAACTTTTTGT 0.552000 26 73 0 0 1 0 0 MOGS 7841 broad.mit.edu 37 2 74688503 74688503 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:74688503G>C ENST00000233616.4 - 4 2575 c.2413C>G c.(2413-2415)Ctt>Gtt p.L805V MOGS_ENST00000452063.2_Missense_Mutation_p.L699V|MOGS_ENST00000409065.1_3'UTR NM_006302.2 NP_006293.2 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase 805 oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2) 23 TGCTCCCAAAGAAAGCCTGTA 0.612000 3 66 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152784000 152784000 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:152784000C>T ENST00000367255.5 - 20 2724 c.2123G>A c.(2122-2124)aGa>aAa p.R708K SYNE1_ENST00000448038.1_Missense_Mutation_p.R715K|SYNE1_ENST00000466159.2_Missense_Mutation_p.R708K|SYNE1_ENST00000367253.4_Missense_Mutation_p.R708K|SYNE1_ENST00000367248.3_Missense_Mutation_p.R698K|SYNE1_ENST00000341594.5_Missense_Mutation_p.R715K|SYNE1_ENST00000413186.2_Missense_Mutation_p.R708K|SYNE1_ENST00000495090.2_Missense_Mutation_p.R275K|SYNE1_ENST00000423061.1_Missense_Mutation_p.R715K|SYNE1_ENST00000265368.4_Missense_Mutation_p.R708K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 708 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTTCTTCATTCTGTCCATCTC 0.433000 HNSCC(10;0.0054) 29 26 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65416426 65416426 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:65416426G>C ENST00000330909.8 - 11 1493 c.1494C>G c.(1492-1494)atC>atG p.I498M MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.I498M|MAGI1_ENST00000402939.2_Missense_Mutation_p.I498M|MAGI1_ENST00000497477.2_Missense_Mutation_p.I498M NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 498 PDZ 2. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CCAAGCTCTTGATCTGGAGAA 0.498000 77 66 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431107 140431107 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:140431107C>T ENST00000306549.3 + 1 129 c.52C>T c.(52-54)Ctc>Ttc p.L18F NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 18 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGGATCTCTTCTCATTTTTCT 0.507000 12 52 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:29977342A>T ENST00000376797.3 - 0 731 ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 3 43 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12686364 12686364 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:12686364G>C ENST00000262127.2 - 8 1244 c.1019C>G c.(1018-1020)gCa>gGa p.A340G PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.A265G|PSMG2_ENST00000589405.1_3'UTR NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 340 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 AACAAATCTTGCTGCTTGCCT 0.468000 41 71 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28966972 28966972 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:28966972G>C ENST00000524189.1 - 34 4178 c.4140C>G c.(4138-4140)atC>atG p.I1380M NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1380 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TTGGAGAACTGATACTCCTCC 0.453000 73 11 0 0 1 0 0 SRR 63826 broad.mit.edu 37 17 2221223 2221223 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:2221223G>A ENST00000344595.5 + 3 546 c.228G>A c.(226-228)ccG>ccA p.P76P SRR_ENST00000576848.1_Intron NM_021947.1 NP_068766.1 Q9GZT4 SRR_HUMAN serine racemase 76 D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide cytoplasm|neuronal cell body|soluble fraction ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AAAGGAAGCCGAAAGCTGTTG 0.443000 70 8 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187197540 187197540 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:187197540C>G ENST00000264692.4 + 7 928 c.595C>G c.(595-597)Caa>Gaa p.Q199E F11_ENST00000403665.2_Missense_Mutation_p.Q251E P03951 FA11_HUMAN coagulation factor XI 251 blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) CAAAGAATCTCAAAGGTAAGG 0.368000 48 58 0 0 1 0 0 CNNM2 54805 broad.mit.edu 37 10 104678762 104678762 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:104678762C>G ENST00000369878.4 + 1 713 c.525C>G c.(523-525)atC>atG p.I175M CNNM2_ENST00000433628.2_Missense_Mutation_p.I175M|CNNM2_ENST00000369875.3_Missense_Mutation_p.I175M NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) TCATCGAGATCGAGATCAAAC 0.637000 12 288 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141004700 141004700 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:141004700C>T ENST00000389484.3 - 87 14250 c.13279G>A c.(13279-13281)Gaa>Aaa p.E4427K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4427 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCTGGCCTTTCACACTGTGTG 0.388000 TSP Lung(27;0.18) 35 20 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641057 57641057 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:57641057G>A ENST00000254181.4 + 4 1468 c.1014G>A c.(1012-1014)ttG>ttA p.L338L USP29_ENST00000598197.1_Silent_p.L338L NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 338 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGCTTGCTTTGAAAGATTTCT 0.383000 4 93 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18907093 18907093 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:18907093G>C ENST00000388995.6 - 2 485 c.262C>G c.(262-264)Cag>Gag p.Q88E SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q88E|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q88E|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 88 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 TCGGGCCCCTGAGAGGGGCCC 0.701000 15 1 0 0 1 0 0 TTC26 79989 broad.mit.edu 37 7 138845756 138845756 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:138845756C>T ENST00000464848.1 + 8 860 c.780C>T c.(778-780)atC>atT p.I260I TTC26_ENST00000478836.2_Silent_p.I154I|TTC26_ENST00000474035.2_Silent_p.I260I|TTC26_ENST00000495038.1_Intron|TTC26_ENST00000430935.1_Silent_p.I260I|TTC26_ENST00000343187.4_Silent_p.I229I|TTC26_ENST00000481482.1_3'UTR A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 260 binding breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 24 AAGAACTCATCAGGCACAATC 0.373000 14 5 0 0 1 0 0 TRIM72 493829 broad.mit.edu 37 16 31230742 31230742 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:31230742C>G ENST00000322122.3 + 4 903 c.619C>G c.(619-621)Cgg>Ggg p.R207G NM_001008274.3 NP_001008275.2 Q6ZMU5 TRI72_HUMAN tripartite motif containing 72 207 exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization cytoplasmic vesicle membrane|sarcolemma phosphatidylserine binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1) 15 CGCCTTGCGCCGGGAGCTGGG 0.657000 5 154 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47955030 47955030 + Splice_Site SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:47955030G>A ENST00000289672.2 - 8 1277 c.1227C>T c.(1225-1227)acC>acT p.T409T NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 409 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 aaaacatactggtgacaaagg 0.388000 4 77 0 0 1 0 0 GAD1 2571 broad.mit.edu 37 2 171713567 171713567 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:171713567G>A ENST00000358196.3 + 15 2003 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) 485 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAAATGCCTGGAACTGGCTGA 0.413000 87 155 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428740 120428740 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:120428740G>A ENST00000222747.3 - 8 1431 c.824C>T c.(823-825)tCa>tTa p.S275L TSPAN12_ENST00000415871.1_Missense_Mutation_p.S275L NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 275 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) CAGTTCTACTGAGGGACATGA 0.428000 91 15 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154228194 154228194 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:154228194C>G ENST00000428931.1 + 18 2287 c.2120C>G c.(2119-2121)tCa>tGa p.S707* UBAP2L_ENST00000271877.7_Nonsense_Mutation_p.S718*|UBAP2L_ENST00000361546.2_Nonsense_Mutation_p.S707*|UBAP2L_ENST00000343815.6_Nonsense_Mutation_p.S707* NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 707 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTTTCATCATCAACATCTTCT 0.453000 10 111 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49274119 49274119 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:49274119G>A ENST00000438782.1 + 3 431 c.195G>A c.(193-195)ttG>ttA p.L65L CCDC36_ENST00000366429.2_Silent_p.L65L|CCDC36_ENST00000296449.5_Silent_p.L65L|CCDC36_ENST00000452691.2_Silent_p.L65L|CCDC36_ENST00000451634.2_Silent_p.L55L Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 65 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) GTGCCCACTTGAGACATTCAA 0.413000 35 32 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108487281 108487281 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:108487281C>T ENST00000408999.3 + 20 2898 c.2821C>T c.(2821-2823)Ctt>Ttt p.L941F RGPD4_ENST00000354986.4_Missense_Mutation_p.L941F NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 941 intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGAAAAGCCTCTTGAAAATGA 0.413000 165 109 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34236398 34236398 + RNA SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:34236398G>C ENST00000587132.1 - 0 1629 TCCAGAGGTTGAACTGTAACG 0.478000 20 50 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175716740 175716740 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:175716740G>C ENST00000443967.1 + 4 563 c.156G>C c.(154-156)gaG>gaC p.E52D SIMC1_ENST00000341199.6_Intron|SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000503595.1_3'UTR|SIMC1_ENST00000429602.2_Missense_Mutation_p.E71D SUMO-interacting motifs containing 1 CAAGAGCTGAGGGAGAAAATA 0.463000 3 20 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216279564 216279564 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:216279564C>G ENST00000354785.4 - 13 2306 c.1937G>C c.(1936-1938)aGa>aCa p.R646T FN1_ENST00000359671.1_Missense_Mutation_p.R646T|FN1_ENST00000356005.4_Missense_Mutation_p.R646T|FN1_ENST00000345488.5_Missense_Mutation_p.R646T|FN1_ENST00000346544.3_Missense_Mutation_p.R646T|FN1_ENST00000336916.4_Missense_Mutation_p.R646T|FN1_ENST00000357009.2_Missense_Mutation_p.R646T|FN1_ENST00000446046.1_Missense_Mutation_p.R646T|FN1_ENST00000443816.1_Missense_Mutation_p.R646T|FN1_ENST00000323926.6_Missense_Mutation_p.R646T|FN1_ENST00000432072.2_Missense_Mutation_p.R646T|FN1_ENST00000426059.1_Missense_Mutation_p.R646T|FN1_ENST00000421182.1_Missense_Mutation_p.R646T|FN1_ENST00000357867.4_Missense_Mutation_p.R646T P02751 FINC_HUMAN fibronectin 1 646 Fibronectin type-III 1. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTCACAGGTCTCCACCTGAG 0.463000 16 9 0 0 1 0 0 CASC5 57082 broad.mit.edu 37 15 40920274 40920274 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:40920274G>C ENST00000346991.5 + 12 5851 c.5461G>C c.(5461-5463)Gat>Cat p.D1821H CASC5_ENST00000399668.2_Missense_Mutation_p.D1795H Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 1821 acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TCAGATTTTTGATCACCATAC 0.328000 20 50 0 0 1 0 0 CDK16 5127 broad.mit.edu 37 X 47083822 47083822 + Nonsense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:47083822G>T ENST00000457458.2 + 3 679 c.259G>T c.(259-261)Gag>Tag p.E87* CDK16_ENST00000276052.6_Nonsense_Mutation_p.E155*|CDK16_ENST00000518022.1_Nonsense_Mutation_p.E81*|CDK16_ENST00000357227.4_Nonsense_Mutation_p.E81* NM_033018.3 NP_148978.2 Q00536 CDK16_HUMAN cyclin-dependent kinase 16 81 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(3) 11 GTCTGATGGGGAGAGTGACCA 0.607000 4 35 1.23904e-05 1.26766e-05 1 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140783957 140783957 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:140783957G>A ENST00000573521.1 + 1 1438 c.1438G>A c.(1438-1440)Gat>Aat p.D480N PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTATGACCCTGATAGCAATGA 0.468000 15 48 0 0 1 0 0 QPCT 25797 broad.mit.edu 37 2 37586728 37586728 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:37586728C>G ENST00000338415.3 + 3 431 c.273C>G c.(271-273)atC>atG p.I91M QPCT_ENST00000537448.1_Missense_Mutation_p.I42M NM_012413.3 NP_036545.1 Q16769 QPCT_HUMAN glutaminyl-peptide cyclotransferase 91 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis extracellular region acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2) 17 Ovarian(717;0.051)|all_hematologic(82;0.21) ATCAGCACATCATGCAGCGAA 0.368000 3 43 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117618442 117618442 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:117618442C>A ENST00000369466.4 + 5 1280 c.1236C>A c.(1234-1236)gcC>gcA p.A412A NM_003594.3 NP_003585.3 Q9UNY4 TTF2_HUMAN transcription termination factor, RNA polymerase II mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) ACCCAGTAGCCCGGCGTGTCT 0.463000 20 43 8.34094e-07 8.64779e-07 1 1 0 LOC643201 643201 broad.mit.edu 37 5 175581818 175581818 + RNA SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:175581818G>T ENST00000515403.1 - 0 2257 RP11-826N14.4_ENST00000510029.1_lincRNA NR_036494.1 GAATGCACAGGAAAAGGCTTC 0.473000 3 9 0.004672 0.00470743 1 1 0 AFF3 3899 broad.mit.edu 37 2 100209920 100209920 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:100209920C>T ENST00000409236.2 - 13 2315 c.2203G>A c.(2203-2205)Gcc>Acc p.A735T AFF3_ENST00000409579.1_Missense_Mutation_p.A760T|AFF3_ENST00000317233.4_Missense_Mutation_p.A735T|AFF3_ENST00000356421.2_Missense_Mutation_p.A760T P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGCTCCTTGGCGATGTCACTG 0.597000 10 88 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53676066 53676066 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:53676066C>G ENST00000257934.4 + 14 2729 c.2638C>G c.(2638-2640)Ctg>Gtg p.L880V ESPL1_ENST00000552462.1_Missense_Mutation_p.L880V NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 880 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GGGTGTCTCTCTGCTGCTGTC 0.592000 38 81 0 0 1 0 0 EAPP 55837 broad.mit.edu 37 14 34985644 34985644 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:34985644C>G ENST00000250454.3 - 6 811 c.730G>C c.(730-732)Gag>Cag p.E244Q NM_018453.3 NP_060923.2 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 244 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2) 12 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TCTGCCTTCTCGGCAGCATCT 0.443000 11 128 0 0 1 0 0 SEMA4C 54910 broad.mit.edu 37 2 97532106 97532106 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:97532106G>A ENST00000305476.5 - 3 304 c.172C>T c.(172-174)Ctg>Ttg p.L58L NM_017789.4 NP_060259.4 Q9C0C4 SEM4C_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C 58 Dominant negative effect on myogenic differentiation (By similarity).|Sema. muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane receptor activity NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 17 GGCTCCGTCAGCGTCAGTGTC 0.657000 6 94 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56872905 56872905 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:56872905C>T ENST00000564887.1 + 17 2320 c.1691C>T c.(1690-1692)tCc>tTc p.S564F NUP93_ENST00000542526.1_Missense_Mutation_p.S564F|NUP93_ENST00000308159.5_Missense_Mutation_p.S687F|NUP93_ENST00000569842.1_Missense_Mutation_p.S687F NM_001242795.1 NP_001229724.1 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 687 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 TTTGTGGACTCCACGTTCTAT 0.393000 85 167 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673357 186673357 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:186673357G>A ENST00000343098.5 + 17 19591 c.19591G>A c.(19591-19593)Gat>Aat p.D6531N FSIP2_ENST00000424728.1_Missense_Mutation_p.D6442N NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 ATTTTATTATGATATAAAAGA 0.294000 8 30 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219868984 219868984 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:219868984C>G ENST00000341552.5 - 33 5328 c.5245G>C c.(5245-5247)Gac>Cac p.D1749H AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Missense_Mutation_p.D1749H|CCDC108_ENST00000441968.1_Missense_Mutation_p.D1749H NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1749 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTGGTCTGTCTTCCTTCGGC 0.527000 5 108 0 0 1 0 0 PRLHR 2834 broad.mit.edu 37 10 120354301 120354301 + Silent SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:120354301G>T ENST00000239032.2 - 2 594 c.456C>A c.(454-456)ctC>ctA p.L152L PRLHR_ENST00000369169.1_Silent_p.L152L NM_004248.2 NP_004239 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 152 female pregnancy integral to plasma membrane neuropeptide Y receptor activity large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) CGATGGTGGTGAGCGTGAACA 0.677000 18 23 1.56452e-12 1.65907e-12 1 1 0 POTEF 728378 broad.mit.edu 37 2 130832564 130832564 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:130832564G>A ENST00000357462.5 - 15 2574 c.2481C>T c.(2479-2481)ttC>ttT p.F827F POTEF_ENST00000409914.2_Silent_p.F827F A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 827 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 CTGGGGTGTTGAAGGTCTCAA 0.612000 6 326 0 0 1 0 0 MAN2C1 4123 broad.mit.edu 37 15 75656927 75656927 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:75656927C>A ENST00000565683.1 - 5 513 c.502G>T c.(502-504)Gag>Tag p.E168* MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000569482.1_Nonsense_Mutation_p.E168*|MAN2C1_ENST00000267978.5_Nonsense_Mutation_p.E168*|MAN2C1_ENST00000563622.1_Nonsense_Mutation_p.E168* NM_001256494.1 NP_001243423.1 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 168 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 44 AACATCTTCTCAGGGTCAGGG 0.592000 17 10 1.02788e-11 1.08876e-11 1 1 0 ORAI3 93129 broad.mit.edu 37 16 30960832 30960832 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:30960832C>T ENST00000318663.4 + 1 446 c.222C>T c.(220-222)ttC>ttT p.F74F ORAI3_ENST00000562699.1_Silent_p.F74F|AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000566237.1_Silent_p.F74F NM_152288.2 NP_689501.1 Q9BRQ5 ORAI3_HUMAN ORAI calcium release-activated calcium modulator 3 74 integral to membrane protein binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 TCTCGGGCTTCGCCATGGTGA 0.692000 9 8 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113286178 113286178 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:113286178G>A ENST00000362072.3 - 5 1032 c.688C>T c.(688-690)Cga>Tga p.R230* DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Nonsense_Mutation_p.R230*|DRD2_ENST00000355319.2_Nonsense_Mutation_p.R230*|DRD2_ENST00000544518.1_Nonsense_Mutation_p.R229*|DRD2_ENST00000346454.3_Nonsense_Mutation_p.R230*|DRD2_ENST00000538967.1_Nonsense_Mutation_p.R230* NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 230 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) CTGAAAGCTCGGCTGCTGCGT 0.562000 5 126 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 179997075 179997075 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:179997075G>C ENST00000428443.3 - 10 1244 c.928C>G c.(928-930)Cag>Gag p.Q310E NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 310 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) TGTAGGGCCTGGGAGGCCCTA 0.468000 9 274 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237843838 237843838 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:237843838G>A ENST00000366574.2 + 62 9295 c.8978G>A c.(8977-8979)gGa>gAa p.G2993E RYR2_ENST00000360064.6_Missense_Mutation_p.G2991E|RYR2_ENST00000542537.1_Missense_Mutation_p.G2977E|RYR2_ENST00000609119.1_3'UTR NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2993 Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCTGCTCTGGAGGACATGCT 0.373000 11 13 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215882852 215882852 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:215882852C>A ENST00000272895.7 - 14 1881 c.1662G>T c.(1660-1662)caG>caT p.Q554H ABCA12_ENST00000389661.4_Missense_Mutation_p.Q236H NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 554 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTTCTAGTAACTGACCTGCAA 0.363000 12 9 3.07112e-06 3.16997e-06 1 1 0 PDCD6IP 10015 broad.mit.edu 37 3 33907982 33907982 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:33907982C>G ENST00000307296.3 + 18 2949 c.2572C>G c.(2572-2574)Cag>Gag p.Q858E PDCD6IP_ENST00000457054.2_Missense_Mutation_p.Q863E Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 858 Interaction with EIAV p9.|Pro-rich.|Self-association. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 CCCCTTCCCTCAGCCCCCACA 0.512000 64 76 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41579108 41579108 + Missense_Mutation SNP T T A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:41579108T>A ENST00000402904.2 - 8 930 c.562A>T c.(562-564)Act>Tct p.T188S SCMH1_ENST00000397174.2_Missense_Mutation_p.T168S|SCMH1_ENST00000372597.1_Missense_Mutation_p.T141S|SCMH1_ENST00000361191.5_Missense_Mutation_p.T127S|SCMH1_ENST00000361705.3_Missense_Mutation_p.T141S|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000326197.7_Missense_Mutation_p.T188S|SCMH1_ENST00000372595.1_Missense_Mutation_p.T127S|SCMH1_ENST00000372596.1_Missense_Mutation_p.T127S|SCMH1_ENST00000337495.5_Missense_Mutation_p.T198S|SCMH1_ENST00000397171.2_Missense_Mutation_p.T127S NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 188 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) TCCCCAATAGTGGCTGGGCAA 0.537000 75 45 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159686479 159686479 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:159686479G>A ENST00000393977.3 - 5 1009 c.724C>T c.(724-726)Caa>Taa p.Q242* CCNJL_ENST00000541762.1_Nonsense_Mutation_p.Q193*|CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Nonsense_Mutation_p.Q194*|CCNJL_ENST00000519673.1_Nonsense_Mutation_p.Q194* NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 242 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTGTCACCTTGCAGGGTGACC 0.622000 14 25 0 0 1 0 0 C8orf37 157657 broad.mit.edu 37 8 96281387 96281387 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:96281387C>T ENST00000286688.5 - 1 42 c.31G>A c.(31-33)Gaa>Aaa p.E11K KB-1047C11.2_ENST00000521905.1_lincRNA NM_177965.3 NP_808880.1 Q96NL8 CH037_HUMAN chromosome 8 open reading frame 37 11 kidney(1)|large_intestine(1)|lung(5) 7 Breast(36;3.41e-05) GACTCGACTTCATCCAAGAGC 0.602000 OREG0018873 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 406 0 0 1 0 0 ZKSCAN1 7586 broad.mit.edu 37 7 99631580 99631580 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:99631580G>A ENST00000324306.6 + 6 1686 c.1452G>A c.(1450-1452)acG>acA p.T484T ZKSCAN1_ENST00000535170.1_Silent_p.T271T|ZKSCAN1_ENST00000426572.1_Silent_p.T448T NM_003439.1 NP_003430.1 P17029 ZKSC1_HUMAN zinc finger with KRAB and SCAN domains 1 484 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T484T(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) GAATTCACACGGGGGAGAAAC 0.473000 7 149 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 98031128 98031128 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:98031128G>A ENST00000224337.5 - 1 169 c.28C>T c.(28-30)Ccc>Tcc p.P10S BLNK_ENST00000371176.2_Missense_Mutation_p.P10S|BLNK_ENST00000495266.1_Missense_Mutation_p.P10S|BLNK_ENST00000413476.2_Missense_Mutation_p.P10S|BLNK_ENST00000427367.2_Missense_Mutation_p.P10S NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 10 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TGACTGGCGGGGACGGTTATT 0.458000 51 57 0 0 1 0 0 APCDD1L 164284 broad.mit.edu 37 20 57045726 57045726 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:57045726C>G ENST00000371149.3 - 2 357 c.127G>C c.(127-129)Gat>Cat p.D43H APCDD1L_ENST00000439429.1_Missense_Mutation_p.D54H NM_153360.1 NP_699191.1 Q8NCL9 APCDL_HUMAN adenomatosis polyposis coli down-regulated 1-like 43 integral to membrane large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1) 18 Lung NSC(12;0.000856)|all_lung(29;0.0025) BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06) GGCACTCTATCTGGCAAGGGC 0.637000 2 2 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47912912 47912912 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:47912912C>A ENST00000507489.1 - 3 511 c.335G>T c.(334-336)gGa>gTa p.G112V NFXL1_ENST00000329043.3_Missense_Mutation_p.G112V|NFXL1_ENST00000381538.3_Missense_Mutation_p.G112V NM_001278624.1 NP_001265553.1 Q6ZNB6 NFXL1_HUMAN nuclear transcription factor, X-box binding-like 1 112 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 ATCTTCATCTCCTTCTTCAGA 0.338000 16 17 2.23348e-06 2.30793e-06 1 1 0 MYH7 4625 broad.mit.edu 37 14 23893277 23893277 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:23893277C>T ENST00000355349.3 - 23 2923 c.2761G>A c.(2761-2763)Gag>Aag p.E921K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 921 E -> K (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCGTTCATCTCCTTCACCTTG 0.517000 68 13 0 0 1 0 0 PRELP 5549 broad.mit.edu 37 1 203452885 203452885 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:203452885C>G ENST00000343110.2 + 2 700 c.573C>G c.(571-573)ttC>ttG p.F191L NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 191 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) CTGGTGTCTTCAGCAAGCTGG 0.602000 7 149 0 0 1 0 0 DENND4A 10260 broad.mit.edu 37 15 66031159 66031159 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:66031159G>T ENST00000443035.3 - 6 901 c.686C>A c.(685-687)tCt>tAt p.S229Y DENND4A_ENST00000431932.2_Missense_Mutation_p.S229Y NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 229 UDENN. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TAGAGGAACAGATTCCGGTAG 0.343000 23 43 1.9806e-07 2.06729e-07 1 1 0 DUSP13 51207 broad.mit.edu 37 10 76854451 76854451 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:76854451C>G ENST00000491677.2 - 8 1509 c.967G>C c.(967-969)Gag>Cag p.E323Q DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.E287Q|DUSP13_ENST00000478873.2_Missense_Mutation_p.E330Q|DUSP13_ENST00000605915.1_Missense_Mutation_p.E216Q|DUSP13_ENST00000372700.3_Missense_Mutation_p.E244Q|DUSP13_ENST00000464872.1_Missense_Mutation_p.E143Q|DUSP13_ENST00000472493.2_Missense_Mutation_p.E194Q NM_001007271.1 NP_001007272.1 Q6B8I1 MDSP_HUMAN dual specificity phosphatase 13 0 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 8 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CGCCCCGTCTCCCGCCCCAGT 0.642000 19 28 0 0 1 0 0 PDP2 57546 broad.mit.edu 37 16 66919441 66919441 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:66919441G>A ENST00000311765.2 + 2 1588 c.1254G>A c.(1252-1254)ctG>ctA p.L418L PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 418 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GGGACATGCTGAGCAATGAGG 0.607000 5 130 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169463518 169463518 + Splice_Site SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:169463518G>C ENST00000256935.8 + 36 3704 c.e36-1 DOCK2_ENST00000520908.1_Splice_Site|DOCK2_ENST00000523351.1_Splice_Site|DOCK2_ENST00000540750.1_Splice_Site NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCCTACCTAGAATTTCTACA 0.408000 38 27 0 0 1 0 0 L2HGDH 79944 broad.mit.edu 37 14 50734496 50734496 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:50734496C>T ENST00000267436.4 - 8 1436 c.1039G>A c.(1039-1041)Gat>Aat p.D347N L2HGDH_ENST00000261699.4_Missense_Mutation_p.D347N|L2HGDH_ENST00000421284.3_Missense_Mutation_p.D347N Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 347 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) TCCATAACATCTGTGGCACTG 0.353000 5 48 0 0 1 0 0 PPIG 9360 broad.mit.edu 37 2 170460703 170460703 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:170460703G>A ENST00000260970.3 + 4 288 c.68G>A c.(67-69)aGa>aAa p.R23K PPIG_ENST00000448752.2_Missense_Mutation_p.R23K|PPIG_ENST00000409714.3_Missense_Mutation_p.R23K|PPIG_ENST00000462903.1_Missense_Mutation_p.R23K NM_004792.2 NP_004783.2 Q13427 PPIG_HUMAN peptidylprolyl isomerase G (cyclophilin G) 23 PPIase cyclophilin-type. protein folding|RNA splicing nuclear matrix|nuclear speck cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1) 43 L-Proline(DB00172) TCAGCTGGAAGAGTTGTCTTT 0.323000 6 108 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46847447 46847447 + Missense_Mutation SNP C C T rs138167652 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:46847447C>T ENST00000393382.3 - 14 2194 c.2053G>A c.(2053-2055)Gta>Ata p.V685I TTLL6_ENST00000433608.2_Missense_Mutation_p.V378I NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 637 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GTGGTTTCTACGGAGGTTAAG 0.463000 30 55 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227919411 227919411 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:227919411C>G ENST00000396625.3 - 31 2966 c.2759G>C c.(2758-2760)aGa>aCa p.R920T COL4A4_ENST00000329662.7_Missense_Mutation_p.R920T NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 920 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGCTTTCCTCTTTCTCCGGG 0.507000 3 30 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856867 62856867 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:62856867C>A ENST00000584306.1 - 11 3927 c.3397G>T c.(3397-3399)Gat>Tat p.D1133Y LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D110Y|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D251Y|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D171Y|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1133Y NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1133 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GATTTCACATCTAGGTTAACG 0.438000 136 106 9.41252e-71 1.03716e-70 1 1 0 C7orf50 84310 broad.mit.edu 37 7 1049725 1049725 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:1049725C>T ENST00000397098.3 - 3 1110 c.184G>A c.(184-186)Gag>Aag p.E62K C7orf50_ENST00000397100.2_Missense_Mutation_p.E62K|C7orf50_ENST00000357429.6_Missense_Mutation_p.E62K|C7orf50_ENST00000488073.1_5'UTR Q9BRJ6 CG050_HUMAN chromosome 7 open reading frame 50 62 protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1) 6 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0216)|OV - Ovarian serous cystadenocarcinoma(56;1.3e-15) ACCCTCTGCTCCTCTGGGGAC 0.617000 8 23 0 0 1 0 0 ATP8B3 148229 broad.mit.edu 37 19 1796807 1796807 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:1796807G>A ENST00000539485.1 - 16 1889 c.1656C>T c.(1654-1656)ctC>ctT p.L552L ATP8B3_ENST00000310127.6_Silent_p.L552L|ATP8B3_ENST00000525591.1_Silent_p.L505L O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 552 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCCGCACGAGGTGCAGCA 0.701000 18 28 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6161877 6161877 + Missense_Mutation SNP G G C rs61748462 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:6161877G>C ENST00000261405.5 - 16 2272 c.2018C>G c.(2017-2019)tCt>tGt p.S673C NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 673 TIL 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) ATCCGGGTAAGAGAGAGAGCG 0.622000 41 24 0 0 1 0 0 ORAI2 80228 broad.mit.edu 37 7 102087136 102087136 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:102087136C>T ENST00000356387.2 + 4 637 c.402C>T c.(400-402)atC>atT p.I134I ORAI2_ENST00000403646.3_Silent_p.I134I|ORAI2_ENST00000478730.2_Silent_p.I134I|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.I134I NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 134 integral to membrane protein binding autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 TGAACTCCATCAGCGAGTCCC 0.632000 93 91 0 0 1 0 0 INTU 27152 broad.mit.edu 37 4 128564709 128564709 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:128564709G>C ENST00000335251.6 + 2 283 c.180G>C c.(178-180)caG>caC p.Q60H INTU_ENST00000296461.5_Missense_Mutation_p.Q60H NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 ACAGTGTGCAGAAAAATGGAG 0.403000 152 175 0 0 1 0 0 KANK1 23189 broad.mit.edu 37 9 730244 730244 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:730244C>T ENST00000382303.1 + 8 3544 c.2892C>T c.(2890-2892)ctC>ctT p.L964L KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.L806L|KANK1_ENST00000382297.2_Silent_p.L964L NM_001256876.1 NP_001243805.1 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 964 negative regulation of actin filament polymerization cytoplasm autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1) 43 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) CCGCTGGCCTCTATGGTAACT 0.498000 5 35 0 0 1 0 0 OAS1 4938 broad.mit.edu 37 12 113355508 113355508 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:113355508G>C ENST00000452357.2 + 5 1231 c.1041G>C c.(1039-1041)gtG>gtC p.V347V OAS1_ENST00000551241.1_Intron|OAS1_ENST00000202917.5_Intron|OAS1_ENST00000445409.2_Intron|RP1-71H24.1_ENST00000552784.1_RNA NM_002534.2 NP_002525.2 P00973 OAS1_HUMAN 2'-5'-oligoadenylate synthetase 1, 40/46kDa 0 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1) 16 TTCTGCTGGTGAGACCTCCTG 0.537000 8 162 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23775422 23775422 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:23775422C>G ENST00000354639.3 + 7 1144 c.680C>G c.(679-681)tCa>tGa p.S227* STK31_ENST00000433467.2_Nonsense_Mutation_p.S250*|STK31_ENST00000355870.3_Nonsense_Mutation_p.S250*|STK31_ENST00000428484.1_Nonsense_Mutation_p.S227*|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 250 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TCAAACCAGTCAACCTTCAGC 0.423000 5 84 0 0 1 0 0 ARMC5 79798 broad.mit.edu 37 16 31476000 31476000 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:31476000G>A ENST00000457010.2 + 4 2357 c.1656G>A c.(1654-1656)ctG>ctA p.L552L ARMC5_ENST00000268314.4_Silent_p.L552L|ARMC5_ENST00000408912.3_Silent_p.L647L|ARMC5_ENST00000563544.1_Silent_p.L552L|ARMC5_ENST00000412665.2_Silent_p.L196L|ARMC5_ENST00000538189.1_Silent_p.L584L NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 552 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 ACGGCCTGCTGACCTATGTGA 0.701000 4 45 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105885990 105885990 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:105885990G>C ENST00000393359.2 - 11 2571 c.2145C>G c.(2143-2145)ctC>ctG p.L715L TGFBRAP1_ENST00000258449.1_Silent_p.L715L Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 715 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 GCGTGTGAAAGAGTTGCTGGC 0.657000 14 16 0 0 1 0 0 ACTG1P17 283693 broad.mit.edu 37 15 83395430 83395430 + RNA SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:83395430C>G ENST00000560958.1 - 0 856 NR_036446.1 CAGAACCACTCATTGCTGATG 0.567000 6 2 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137499823 137499823 + Splice_Site SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:137499823C>T ENST00000254900.5 - 14 2197 c.e14-1 BRD8_ENST00000402931.1_Splice_Site|BRD8_ENST00000515014.1_Intron|BRD8_ENST00000411594.2_Splice_Site|BRD8_ENST00000455658.2_Splice_Site|BRD8_ENST00000230901.5_Splice_Site NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) TTCAATGAGTCTGCAGAGGAG 0.418000 63 170 0 0 1 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65199580 65199580 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:65199580G>A ENST00000247226.7 + 10 1446 c.1138G>A c.(1138-1140)Gag>Aag p.E380K PLEKHG3_ENST00000394691.1_Missense_Mutation_p.E436K NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 436 PH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CTCCCAGGATGAGGTGTCCAC 0.607000 7 1 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2983870 2983870 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:2983870C>T ENST00000396946.4 - 5 1063 c.660G>A c.(658-660)atG>atA p.M220I AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 220 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCGGCTCCTCATGACCGCCA 0.572000 Mis DLBCL 16 53 0 0 1 0 0 DESI1 27351 broad.mit.edu 37 22 41999386 41999386 + Splice_Site SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:41999386C>G ENST00000263256.6 - 5 547 c.e5-1 DESI1_ENST00000463886.1_Splice_Site NM_015704.2 NP_056519.1 Q6ICB0 PPDE2_HUMAN desumoylating isopeptidase 1 GGCCTCACCTCTGTACATTGA 0.458000 45 77 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53468949 53468949 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:53468949G>A ENST00000301463.4 - 4 387 c.301C>T c.(301-303)Cag>Tag p.Q101* SPRYD3_ENST00000547837.1_Nonsense_Mutation_p.Q138* NM_032840.2 NP_116229.1 Q8NCJ5 SPRY3_HUMAN SPRY domain containing 3 101 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 CTGTAGTACTGAGGGACCAGC 0.582000 77 44 0 0 1 0 0 IL27RA 9466 broad.mit.edu 37 19 14142711 14142711 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:14142711C>T ENST00000263379.2 + 1 152 c.27C>T c.(25-27)ttC>ttT p.F9F NM_004843.3 NP_004834.1 Q6UWB1 I27RA_HUMAN interleukin 27 receptor, alpha 9 cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 26 GCGCCCCTTTCTGGCTGTGGC 0.726000 6 14 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9070618 9070618 + Silent SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:9070618G>T ENST00000397910.4 - 3 17031 c.16828C>A c.(16828-16830)Cgg>Agg p.R5610R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5612 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R5610W(2)|p.R1243W(1) 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 GTTCTGCTCCGAAGAGTGGTT 0.527000 6 83 0.00116845 0.00117986 1 1 0 POLRMT 5442 broad.mit.edu 37 19 630136 630136 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:630136C>T ENST00000588649.2 - 3 310 c.226G>A c.(226-228)Gag>Aag p.E76K NM_005035.3 NP_005026.3 O00411 RPOM_HUMAN polymerase (RNA) mitochondrial (DNA directed) 76 transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1) 20 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GACACGCTCTCAGCCTGCAGC 0.652000 79 79 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187542068 187542068 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:187542068G>C ENST00000441802.2 - 10 5881 c.5672C>G c.(5671-5673)cCa>cGa p.P1891R NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1891 Cadherin 17. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTTGTATGTTGGTAACAAAAG 0.408000 HNSCC(5;0.00058) 4 58 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41552280 41552280 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:41552280G>A ENST00000396942.1 - 28 3240 c.3157C>T c.(3157-3159)Cga>Tga p.R1053* ANK1_ENST00000265709.8_Nonsense_Mutation_p.R1094*|ANK1_ENST00000379758.2_Nonsense_Mutation_p.R1053*|ANK1_ENST00000352337.4_Nonsense_Mutation_p.R1053*|ANK1_ENST00000347528.4_Nonsense_Mutation_p.R1053*|ANK1_ENST00000289734.7_Nonsense_Mutation_p.R1053*|ANK1_ENST00000396945.1_Nonsense_Mutation_p.R1053* P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1053 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGATGATTCGGCACACCCTC 0.592000 10 18 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434778 1434778 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:1434778C>G ENST00000233078.4 + 12 1252 c.1091C>G c.(1090-1092)tCa>tGa p.S364* DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 364 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGGGCTTCTCAGACCCCAGC 0.706000 44 32 0 0 1 0 0 SYTL3 94120 broad.mit.edu 37 6 159103970 159103970 + Missense_Mutation SNP A A G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:159103970A>G ENST00000297239.9 + 5 537 c.343A>G c.(343-345)Aaa>Gaa p.K115E SYTL3_ENST00000360448.3_Missense_Mutation_p.K115E|SYTL3_ENST00000367081.3_5'UTR Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 115 RabBD. intracellular protein transport endomembrane system|membrane Rab GTPase binding endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) TGTCAAAATAAAAACTGGAGA 0.348000 12 20 0 0 1 0 0 ABCA13 154664 broad.mit.edu 37 7 48559844 48559844 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:48559844C>G ENST00000435803.1 + 53 14029 c.14005C>G c.(14005-14007)Ctc>Gtc p.L4669V ABCA13_ENST00000544596.1_Missense_Mutation_p.L399V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4669 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CACAGTACTTCTCCTCTTGAG 0.532000 3 41 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163302588 163302588 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:163302588C>T ENST00000332142.5 - 7 1593 c.1494G>A c.(1492-1494)ctG>ctA p.L498L KCNH7_ENST00000328032.4_Silent_p.L491L NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 498 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CCATGTCAATCAGGAACCAGC 0.353000 25 18 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 74004241 74004241 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:74004241C>G ENST00000476977.1 + 23 4073 c.2382C>G c.(2380-2382)ctC>ctG p.L794L GTF2IRD1_ENST00000424337.2_Silent_p.L794L|GTF2IRD1_ENST00000455841.2_Silent_p.L826L|GTF2IRD1_ENST00000265755.3_Silent_p.L809L Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 809 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 TGAAGGAACTCTTCAACGAGA 0.597000 12 17 0 0 1 0 0 SREBF1 6720 broad.mit.edu 37 17 17721227 17721227 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:17721227G>A ENST00000355815.4 - 8 1446 c.1277C>T c.(1276-1278)tCt>tTt p.S426F SREBF1_ENST00000261646.5_Missense_Mutation_p.S396F|SREBF1_ENST00000338854.5_Missense_Mutation_p.S396F|SREBF1_ENST00000435530.2_Missense_Mutation_p.S396F|SREBF1_ENST00000395757.1_Missense_Mutation_p.S142F NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 396 Interaction with LMNA (By similarity). 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 ATCCTTCAGAGATTCTGTGGG 0.587000 52 3 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37854460 37854460 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:37854460T>C ENST00000591471.1 + 9 2585 c.944T>C c.(943-945)tTt>tCt p.F315S HKR1_ENST00000541583.2_Missense_Mutation_p.F527S|HKR1_ENST00000544914.1_Missense_Mutation_p.F315S|HKR1_ENST00000589392.1_Missense_Mutation_p.F570S|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000324411.4_Missense_Mutation_p.F588S|HKR1_ENST00000392153.3_Missense_Mutation_p.F569S P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 588 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGCAAGGCTTTTGTGCTAAG 0.552000 53 50 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137499815 137499815 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:137499815C>T ENST00000254900.5 - 14 2204 c.1833G>A c.(1831-1833)ttG>ttA p.L611L BRD8_ENST00000402931.1_Silent_p.L611L|BRD8_ENST00000515014.1_Intron|BRD8_ENST00000411594.2_Silent_p.L614L|BRD8_ENST00000455658.2_Silent_p.L570L|BRD8_ENST00000230901.5_Silent_p.L684L NM_139199.1 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 611 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ATTCTTCTTTCAATGAGTCTG 0.413000 69 185 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171244580 171244580 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:171244580C>T ENST00000354841.4 + 3 548 c.417C>T c.(415-417)atC>atT p.I139I FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.I139I|FMO1_ENST00000402921.2_Silent_p.I76I NM_001282692.1 NP_001269621.1 Q01740 FMO1_HUMAN flavin containing monooxygenase 1 139 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGTCAGCCATCTTTGATGCTG 0.428000 29 103 0 0 1 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36244214 36244214 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:36244214C>G ENST00000258840.6 - 3 655 c.265G>C c.(265-267)Gag>Cag p.E89Q RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E89Q|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E89Q|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.E89Q NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 89 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GCACTTACCTCAAAAATAAAA 0.259000 13 3 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 82147793 82147793 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:82147793G>A ENST00000550584.2 - 2 503 c.208C>T c.(208-210)Cga>Tga p.R70* PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.R70*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.R70*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.R70*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.R70*|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.R70* NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 329 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 AGTGAGTCTCGGTCATAGATG 0.468000 11 21 0 0 1 0 0 EIF5AL1 143244 broad.mit.edu 37 10 81272751 81272751 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:81272751G>A ENST00000520547.2 + 1 395 c.346G>A c.(346-348)Gag>Aag p.E116K NM_001099692.1 NP_001093162.1 Q6IS14 IF5AL_HUMAN eukaryotic translation initiation factor 5A-like 1 116 mRNA transport|peptidyl-lysine modification to hypusine|positive regulation of translational elongation|positive regulation of translational termination|protein transport|translational frameshifting|transmembrane transport endoplasmic reticulum membrane|nuclear pore ribosome binding|translation elongation factor activity endometrium(1) 1 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TCGTCTCCCTGAGGGAGACCT 0.537000 48 161 0 0 1 0 0 POM121L12 285877 broad.mit.edu 37 7 53103781 53103781 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:53103781C>T ENST00000408890.4 + 1 433 c.417C>T c.(415-417)atC>atT p.I139I NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 139 p.I139M(1)|p.I139I(1) endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CGGTGACCATCGGGATCGCGC 0.716000 16 55 0 0 1 0 0 ADCK3 56997 broad.mit.edu 37 1 227149231 227149231 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:227149231G>C ENST00000366779.1 + 7 2916 c.145G>C c.(145-147)Gag>Cag p.E49Q ADCK3_ENST00000366778.1_5'UTR|ADCK3_ENST00000366777.3_Missense_Mutation_p.E49Q|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000458507.2_Intron Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 49 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CACGGCTGTGGAGCAGATTGG 0.657000 30 31 0 0 1 0 0 LIG3 3980 broad.mit.edu 37 17 33321330 33321330 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:33321330G>A ENST00000378526.4 + 9 1624 c.1491G>A c.(1489-1491)aaG>aaA p.K497K LIG3_ENST00000262327.5_Silent_p.K497K NM_013975.3 NP_039269.2 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent 497 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1) 31 Ovarian(249;0.17) Bleomycin(DB00290) ATGCAATGAAGAAATGTCCCA 0.527000 Other BER factors 37 60 0 0 1 0 0 MON1B 22879 broad.mit.edu 37 16 77232007 77232007 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:77232007G>A ENST00000248248.3 + 6 1796 c.1446G>A c.(1444-1446)gtG>gtA p.V482V MON1B_ENST00000439557.2_Silent_p.V373V|MON1B_ENST00000545553.1_Silent_p.V336V NM_014940.2 NP_055755.1 Q7L1V2 MON1B_HUMAN MON1 secretory trafficking family member B 482 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 ACCCCCAGGTGACCTCCAAAT 0.572000 6 302 0 0 1 0 0 ZBTB21 49854 broad.mit.edu 37 21 43413854 43413854 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr21:43413854G>A ENST00000310826.5 - 3 534 c.351C>T c.(349-351)atC>atT p.I117I ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Silent_p.I117I|ZBTB21_ENST00000398505.3_Silent_p.I117I|ZBTB21_ENST00000398511.3_Silent_p.I117I NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 TTTTAGAAACGATGTTAGTCA 0.383000 29 23 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74015620 74015620 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:74015620G>A ENST00000301607.3 - 10 1379 c.1126C>T c.(1126-1128)Caa>Taa p.Q376* EVPL_ENST00000586740.1_Nonsense_Mutation_p.Q376* NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 376 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCCAGCTGTTGCAGCAGCTCT 0.622000 13 23 0 0 1 0 0 TRIM11 81559 broad.mit.edu 37 1 228588850 228588850 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:228588850G>A ENST00000493030.2 - 2 3884 c.175C>T c.(175-177)Cgt>Tgt p.R59C TRIM11_ENST00000366699.3_Missense_Mutation_p.R184C|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Missense_Mutation_p.R184C Q96F44 TRI11_HUMAN tripartite motif containing 11 184 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) CGGCGAAGACGCTCGAACTCA 0.677000 17 52 0 0 1 0 0 SLC10A7 84068 broad.mit.edu 37 4 147215121 147215121 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:147215121C>G ENST00000432059.2 - 7 889 c.643G>C c.(643-645)Gac>Cac p.D215H SLC10A7_ENST00000394062.3_Missense_Mutation_p.D228H|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000507030.1_Missense_Mutation_p.D228H|SLC10A7_ENST00000335472.7_Missense_Mutation_p.D228H Q0GE19 NTCP7_HUMAN solute carrier family 10, member 7 228 integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1) 16 all_hematologic(180;0.151) TTATCCAGGTCAATATTTGGG 0.438000 6 127 0 0 1 0 0 KLC4 89953 broad.mit.edu 37 6 43042397 43042397 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:43042397C>G ENST00000394056.2 + 17 2342 c.1847C>G c.(1846-1848)tCt>tGt p.S616C RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000479388.1_Missense_Mutation_p.S616C|KLC4_ENST00000259708.3_Missense_Mutation_p.S634C|KLC4_ENST00000347162.5_Missense_Mutation_p.S616C|KLC4_ENST00000394058.1_Missense_Mutation_p.S616C|KLC4_ENST00000453940.2_Missense_Mutation_p.S539C Q9NSK0 KLC4_HUMAN kinesin light chain 4 616 cytoplasm|kinesin complex|microtubule microtubule motor activity|protein binding endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4) 23 all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453) ATGGACCTCTCTTCAAGCAGC 0.632000 7 37 0 0 1 0 0 KARS 3735 broad.mit.edu 37 16 75663316 75663316 + Silent SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:75663316G>T ENST00000319410.5 - 13 1753 c.1632C>A c.(1630-1632)gcC>gcA p.A544A KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Silent_p.A516A NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 516 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) TTCTCACCTTGGCCTGTTCTT 0.493000 35 115 6.05902e-23 6.54458e-23 1 1 0 PLEKHS1 79949 broad.mit.edu 37 10 115535606 115535606 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:115535606G>A ENST00000354462.3 + 4 420 c.262G>A c.(262-264)Gaa>Aaa p.E88K PLEKHS1_ENST00000369309.1_Missense_Mutation_p.E172K|PLEKHS1_ENST00000369310.3_Missense_Mutation_p.E338K|PLEKHS1_ENST00000361048.1_Missense_Mutation_p.E358K|PLEKHS1_ENST00000369312.4_Missense_Mutation_p.E256K pleckstrin homology domain containing, family S member 1 TGCTCTCACAGAAGCCACAGG 0.413000 6 133 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42558015 42558015 + Silent SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:42558015T>C ENST00000381668.5 - 16 1614 c.1383A>G c.(1381-1383)tcA>tcG p.S461S ATP8A1_ENST00000264449.10_Silent_p.S446S NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 461 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) CCAGCAATGATGAATCACTAA 0.323000 4 37 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31656525 31656525 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:31656525G>A ENST00000375842.4 - 14 1554 c.568C>T c.(568-570)Cta>Tta p.L190L ABHD16A_ENST00000395952.3_Silent_p.L409L|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.L376L|ABHD16A_ENST00000471644.1_5'UTR O95870 ABHGA_HUMAN abhydrolase domain containing 16A 409 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 GCGTTGTTTAGATTGAGATGC 0.587000 29 14 0 0 1 0 0 PDXDC2P 283970 broad.mit.edu 37 16 70068170 70068170 + RNA SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:70068170G>A ENST00000531894.1 - 0 654 NR_003610.1 CATCCACTACGAAGTCTTCAT 0.413000 9 80 0 0 1 0 0 LGSN 51557 broad.mit.edu 37 6 63990078 63990078 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:63990078C>G ENST00000370657.4 - 4 1411 c.1378G>C c.(1378-1380)Gaa>Caa p.E460Q LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 460 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) AGGGCATCTTCTAGTTTTAAA 0.438000 47 21 0 0 1 0 0 LAIR1 3903 broad.mit.edu 37 19 54867579 54867579 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:54867579C>T ENST00000391743.3 - 8 927 c.647G>A c.(646-648)aGa>aAa p.R216K LAIR1_ENST00000434277.2_Missense_Mutation_p.R233K|LAIR1_ENST00000391742.2_Missense_Mutation_p.R234K|LAIR1_ENST00000313038.6_Missense_Mutation_p.R227K|LAIR1_ENST00000474878.1_Missense_Mutation_p.R216K|LAIR1_ENST00000348231.4_Missense_Mutation_p.R217K Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like receptor 1 234 integral to membrane|plasma membrane protein binding|receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3) 26 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) GTCCGTCTCTCTGTCCTTCTC 0.463000 27 54 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76797043 76797043 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:76797043G>A ENST00000285871.4 + 2 185 c.58G>A c.(58-60)Gat>Aat p.D20N CCDC146_ENST00000431197.1_5'UTR|RP11-467H10.2_ENST00000459742.1_RNA NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 20 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) AGATGAAAAGGATCAAGAGCC 0.358000 12 34 0 0 1 0 0 DNAJB12 54788 broad.mit.edu 37 10 74098043 74098043 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:74098043C>T ENST00000338820.3 - 6 1001 c.852G>A c.(850-852)ctG>ctA p.L284L DNAJB12_ENST00000461919.1_Silent_p.L45L|DNAJB12_ENST00000444643.2_Silent_p.L250L|DNAJB12_ENST00000394903.2_Silent_p.L284L NM_001002762.2 NP_001002762.2 Q9NXW2 DJB12_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 12 250 protein folding endoplasmic reticulum|integral to membrane heat shock protein binding|unfolded protein binding endometrium(1)|large_intestine(2)|skin(1) 4 GGATAGGCATCAGCTGCACAA 0.572000 34 38 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51101878 51101878 + Splice_Site SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:51101878G>A ENST00000266037.9 + 6 338 c.e6-1 NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TGCCCTTTCAGAAACACAAAG 0.388000 9 170 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33468840 33468840 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:33468840C>G ENST00000404816.2 + 10 2341 c.1988C>G c.(1987-1989)tCa>tGa p.S663* LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S337*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S337*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S337*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S337*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S337*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S663* Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 663 EGF-like 3; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CCTACCTTTTCAAGTTGTGTT 0.403000 32 31 0 0 1 0 0 DCLK2 166614 broad.mit.edu 37 4 151170830 151170830 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:151170830C>T ENST00000296550.7 + 15 2821 c.2067C>T c.(2065-2067)gtC>gtT p.V689V DCLK2_ENST00000506325.1_Silent_p.V688V|DCLK2_ENST00000302176.8_Silent_p.V706V NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 689 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) GGGTCTCCGTCATCATGGTGA 0.532000 8 147 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117335849 117335849 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:117335849C>T ENST00000321322.6 - 17 3255 c.3254G>A c.(3253-3255)gGc>gAc p.G1085D DSCAML1_ENST00000527706.1_Missense_Mutation_p.G815D NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1025 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTCTCTGTAGCCAATCTGGTA 0.592000 51 18 0 0 1 0 0 GOPC 57120 broad.mit.edu 37 6 117884440 117884440 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:117884440G>A ENST00000535237.1 - 9 1595 c.1366C>T c.(1366-1368)Ctg>Ttg p.L456L GOPC_ENST00000368498.2_Silent_p.L456L|DCBLD1_ENST00000296955.8_Intron|GOPC_ENST00000052569.6_Silent_p.L448L|GOPC_ENST00000467125.1_Intron golgi-associated PDZ and coiled-coil motif containing GOPC/ROS1(14) endometrium(1)|large_intestine(3)|lung(4)|ovary(1) 9 all_cancers(87;0.00844)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976) TTATGATACAGAGTGTGCAGA 0.403000 O ROS1 glioblastoma 24 52 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133945108 133945108 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:133945108C>T ENST00000361069.4 + 17 3073 c.2940C>T c.(2938-2940)aaC>aaT p.N980N LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 980 Laminin EGF-like 11. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GCCACGAGAACGGCACATGCG 0.652000 9 0 0 0 1 0 0 DDX41 51428 broad.mit.edu 37 5 176940701 176940701 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:176940701G>C ENST00000507955.1 - 10 1606 c.1083C>G c.(1081-1083)atC>atG p.I361M NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 361 Helicase ATP-binding. apoptosis|multicellular organismal development catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) AGTAGGAGAAGATGGTACGGA 0.642000 51 43 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51638299 51638299 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:51638299C>G ENST00000375695.2 + 4 517 c.364C>G c.(364-366)Cag>Gag p.Q122E MAGED1_ENST00000326587.7_Missense_Mutation_p.Q66E|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375722.1_Missense_Mutation_p.Q66E|MAGED1_ENST00000375772.3_Missense_Mutation_p.Q66E NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 66 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) GGCTGACATTCAGGTTTCAGC 0.532000 Multiple Myeloma(10;0.10) 17 1 0 0 1 0 0 BPIFB6 128859 broad.mit.edu 37 20 31619496 31619496 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:31619496G>A ENST00000349552.1 + 1 43 c.43G>A c.(43-45)Ggc>Agc p.G15S NM_174897.2 NP_777557.1 Q8NFQ5 BPIL3_HUMAN BPI fold containing family B, member 6 15 extracellular region lipid binding CCTGCTGACTGGCACGCGAGC 0.672000 7 57 0 0 1 0 0 ETV4 2118 broad.mit.edu 37 17 41610246 41610246 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:41610246C>T ENST00000319349.5 - 8 905 c.607G>A c.(607-609)Gaa>Aaa p.E203K ETV4_ENST00000591713.1_Missense_Mutation_p.E203K|ETV4_ENST00000545089.1_Missense_Mutation_p.E149K|ETV4_ENST00000538265.1_Missense_Mutation_p.E164K|ETV4_ENST00000545954.1_Missense_Mutation_p.E164K|ETV4_ENST00000393664.2_Missense_Mutation_p.E203K NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 203 Gln-rich. positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) GGGAGGGGTTCCCGGCCCCCT 0.572000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 38 75 0 0 1 0 0 FAM217A 222826 broad.mit.edu 37 6 4069641 4069641 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:4069641C>T ENST00000274673.3 - 7 1219 c.816G>A c.(814-816)tgG>tgA p.W272* FAM217A_ENST00000380188.2_5'UTR NM_173563.2 NP_775834.2 Q8IXS0 CF146_HUMAN family with sequence similarity 217, member A 272 CTGTCACTTTCCAATTGTCAG 0.423000 32 21 0 0 1 0 0 OR2D3 120775 broad.mit.edu 37 11 6942835 6942835 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:6942835G>A ENST00000317834.3 + 1 631 c.603G>A c.(601-603)ctG>ctA p.L201L NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGCCCTCCTGAAGCTGGCTT 0.463000 30 6 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1421149 1421149 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:1421149G>T ENST00000336761.6 + 5 511 c.306G>T c.(304-306)caG>caT p.Q102H DAZAP1_ENST00000233078.4_Missense_Mutation_p.Q102H|DAZAP1_ENST00000586579.1_Splice_Site NM_170711.1 NP_733829.1 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 102 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TTCAACAGCAGAAAGGACCCA 0.478000 4 143 0.00909568 0.00913497 1 1 0 ARFGAP2 84364 broad.mit.edu 37 11 47196568 47196568 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:47196568G>C ENST00000524782.1 - 5 706 c.478C>G c.(478-480)Caa>Gaa p.Q160E ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Intron|ARFGAP2_ENST00000319543.6_Intron NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 160 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GCACTCACTTGAGTGTGTTCT 0.463000 14 415 0 0 1 0 0 GPR133 283383 broad.mit.edu 37 12 131593338 131593338 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:131593338G>C ENST00000261654.5 + 18 2516 c.1957G>C c.(1957-1959)Gag>Cag p.E653Q GPR133_ENST00000535015.1_Missense_Mutation_p.E685Q|GPR133_ENST00000543617.1_Missense_Mutation_p.E172Q|GPR133_ENST00000376682.4_Missense_Mutation_p.E339Q NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 653 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) GATGCTGGTGGAGGGGCTGCA 0.567000 12 215 0 0 1 0 0 MAPKAPK3 7867 broad.mit.edu 37 3 50655200 50655200 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:50655200G>C ENST00000446044.1 + 4 800 c.204G>C c.(202-204)caG>caC p.Q68H MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.Q68H NM_001243926.1 NP_001230855.1 Q16644 MAPK3_HUMAN mitogen-activated protein kinase-activated protein kinase 3 68 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity central_nervous_system(1)|ovary(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223) GCACTGGACAGAAGTGTGCCC 0.602000 55 60 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49698174 49698174 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:49698174G>C ENST00000296452.4 + 6 9010 c.8896G>C c.(8896-8898)Gat>Cat p.D2966H NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2966 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) GGCAGAGCTGGATGAGGAGGA 0.592000 12 11 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79372964 79372964 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:79372964G>A ENST00000264895.6 + 46 6942 c.6502G>A c.(6502-6504)Ggg>Agg p.G2168R NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2167 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 AGAACCTGGAGGGAGCTTTGC 0.368000 18 25 0 0 1 0 0 DIP2C 22982 broad.mit.edu 37 10 395353 395353 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:395353C>G ENST00000280886.6 - 25 3114 c.3027G>C c.(3025-3027)aaG>aaC p.K1009N NM_014974.2 NP_055789.1 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C (Drosophila) 1009 nucleus catalytic activity|transcription factor binding breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) TCTCAGCTCTCTTGTGCAGCT 0.617000 29 39 0 0 1 0 0 CEP57 9702 broad.mit.edu 37 11 95546175 95546175 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:95546175G>A ENST00000325542.5 + 3 520 c.282G>A c.(280-282)gtG>gtA p.V94V CEP57_ENST00000538658.1_Silent_p.V94V|CEP57_ENST00000541150.1_Silent_p.V85V|CEP57_ENST00000325486.5_Silent_p.V94V|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000537677.1_Silent_p.V67V NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 94 centrosome localization domain (CLD) (By similarity). fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAGAAAGTGTGAAAACCTTGT 0.363000 Mosaic Variegated Aneuploidy Syndrome 4 55 0 0 1 0 0 WDR46 9277 broad.mit.edu 37 6 33256694 33256694 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:33256694G>T ENST00000374617.4 - 2 522 c.166C>A c.(166-168)Cag>Aag p.Q56K WDR46_ENST00000477718.1_5'UTR NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 56 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 TTTGGTCTCTGAGGACGGAGC 0.552000 16 57 1.3612e-06 1.40971e-06 1 1 0 RSC1A1 6248 broad.mit.edu 37 1 15986751 15986751 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:15986751G>A ENST00000345034.1 + 1 388 c.388G>A c.(388-390)Gaa>Aaa p.E130K DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulatory solute carrier protein, family 1, member 1 130 negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport cell junction|Golgi apparatus|nucleus ion channel inhibitor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1) 11 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TACAAGACAGGAAGCTAGTTT 0.418000 63 117 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179659276 179659276 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:179659276C>T ENST00000589042.1 - 8 1472 c.1248G>A c.(1246-1248)gtG>gtA p.V416V TTN_ENST00000342992.6_Silent_p.V416V|TTN_ENST00000359218.5_Silent_p.V416V|TTN_ENST00000342175.6_Silent_p.V416V|TTN_ENST00000591111.1_Silent_p.V416V|TTN_ENST00000460472.2_Silent_p.V416V|TTN_ENST00000360870.5_Silent_p.V416V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 416 Ala-rich. 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) CATCTTGTTTCACCTAGATTA 0.418000 7 85 0 0 1 0 0 FBXO22 26263 broad.mit.edu 37 15 76225119 76225119 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:76225119C>G ENST00000308275.3 + 7 993 c.888C>G c.(886-888)gtC>gtG p.V296V FBXO22_ENST00000540507.1_Silent_p.V192V NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 296 ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 ACGAGGACGTCAGTGATGAGA 0.537000 31 42 0 0 1 0 0 BAZ1A 11177 broad.mit.edu 37 14 35230989 35230989 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:35230989C>G ENST00000360310.1 - 24 4784 c.4217G>C c.(4216-4218)aGa>aCa p.R1406T BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1374T|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R1406T NM_013448.2 NP_038476.2 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1406 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) TCTGCATCTTCTTTTGGATTC 0.348000 10 62 0 0 1 0 0 TPD52L1 7164 broad.mit.edu 37 6 125550309 125550309 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:125550309G>C ENST00000534000.1 + 3 477 c.181G>C c.(181-183)Gaa>Caa p.E61Q TPD52L1_ENST00000534199.1_Missense_Mutation_p.E32Q|TPD52L1_ENST00000368388.2_Missense_Mutation_p.E61Q|TPD52L1_ENST00000368402.5_Missense_Mutation_p.E61Q|TPD52L1_ENST00000392482.2_Missense_Mutation_p.E32Q|TPD52L1_ENST00000527711.1_Missense_Mutation_p.E61Q|TPD52L1_ENST00000304877.13_Missense_Mutation_p.E61Q|TPD52L1_ENST00000524679.1_Missense_Mutation_p.E32Q|TPD52L1_ENST00000528193.1_Missense_Mutation_p.E61Q|TPD52L1_ENST00000532429.1_Missense_Mutation_p.E32Q|HDDC2_ENST00000608456.1_Intron NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 61 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) GTCAGCGAAAGAAAGGCATCT 0.418000 24 47 0 0 1 0 0 HIC2 23119 broad.mit.edu 37 22 21799914 21799914 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:21799914G>C ENST00000443632.2 + 2 1102 c.730G>C c.(730-732)Gag>Cag p.E244Q HIC2_ENST00000407464.2_Missense_Mutation_p.E244Q|HIC2_ENST00000407598.2_Missense_Mutation_p.E244Q Q96JB3 HIC2_HUMAN hypermethylated in cancer 2 244 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent focal adhesion|nucleus DNA binding|protein C-terminus binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968) Lung SC(17;0.0262)|all_lung(157;0.205) CTGCGAGCAGGAGCTGGGCTT 0.706000 18 12 0 0 1 0 0 TNK1 8711 broad.mit.edu 37 17 7290706 7290706 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:7290706G>C ENST00000570896.1 + 11 1853 c.1407G>C c.(1405-1407)aaG>aaC p.K469N TNK1_ENST00000311668.2_Missense_Mutation_p.K469N|TNK1_ENST00000576812.1_Missense_Mutation_p.K474N Q13470 TNK1_HUMAN tyrosine kinase, non-receptor, 1 474 protein autophosphorylation membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1) 16 Prostate(122;0.157) GAGACAGAAAGAAGGCAAATC 0.562000 12 0 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32832589 32832589 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:32832589G>T ENST00000421745.2 + 72 14272 c.14138G>T c.(14137-14139)cGg>cTg p.R4713L NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4713 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) GGATATGAACGGTCTAGAGGC 0.423000 77 56 4.75426e-39 5.20172e-39 1 1 0 CSRNP1 64651 broad.mit.edu 37 3 39184950 39184950 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:39184950C>T ENST00000273153.5 - 5 1543 c.1366G>A c.(1366-1368)Gag>Aag p.E456K CSRNP1_ENST00000514182.1_Missense_Mutation_p.E456K NM_033027.3 NP_149016.2 Q96S65 CSRN1_HUMAN cysteine-serine-rich nuclear protein 1 456 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3) 24 TTGGCATTCTCATCCAGGACG 0.577000 23 34 0 0 1 0 0 MSMP 692094 broad.mit.edu 37 9 35754040 35754040 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:35754040G>C ENST00000436428.2 - 1 226 c.87C>G c.(85-87)ctC>ctG p.L29L RGP1_ENST00000378078.4_3'UTR|MSMP_ENST00000414286.1_Intron NM_001044264.2 NP_001037729.1 Q1L6U9 MSMP_HUMAN microseminoprotein, prostate associated 29 extracellular region endometrium(2)|kidney(1)|lung(3)|prostate(3) 9 CTGGGTGCTGGAGGAGTAGAG 0.572000 5 183 0 0 1 0 0 ZNF513 130557 broad.mit.edu 37 2 27600471 27600471 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:27600471G>A ENST00000323703.6 - 4 1765 c.1567C>T c.(1567-1569)Cgg>Tgg p.R523W ZNF513_ENST00000407879.1_Missense_Mutation_p.R461W NM_144631.5 NP_653232.3 Q8N8E2 ZN513_HUMAN zinc finger protein 513 523 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 17 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGGGCCCCGAGAGCTCAAA 0.627000 30 61 0 0 1 0 0 RILPL1 353116 broad.mit.edu 37 12 123984075 123984075 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:123984075C>G ENST00000376874.4 - 3 704 c.469G>C c.(469-471)Gag>Cag p.E157Q RILPL1_ENST00000340724.6_Missense_Mutation_p.E5Q NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 157 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) CGCTCCCGCTCTGACATGCCT 0.557000 7 45 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512832 248512832 + Silent SNP A A T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:248512832A>T ENST00000317861.1 + 1 756 c.756A>T c.(754-756)tcA>tcT p.S252S NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 TCCTCAGTTCATGCTCTTCTG 0.512000 66 70 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21990740 21990740 + Missense_Mutation SNP T T A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:21990740T>A ENST00000594012.1 - 7 2595 c.2081A>T c.(2080-2082)cAt>cTt p.H694L ZNF43_ENST00000595461.1_Missense_Mutation_p.H694L|ZNF43_ENST00000598381.1_Missense_Mutation_p.H694L|ZNF43_ENST00000354959.4_Missense_Mutation_p.H700L NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 700 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CTCTCCAGTATGAATAATCTT 0.358000 37 64 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23893272 23893272 + Missense_Mutation SNP C C T rs138756911 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:23893272C>T ENST00000355349.3 - 23 2928 c.2766G>A c.(2764-2766)atG>atA p.M922I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 922 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GCCTCTCGTTCATCTCCTTCA 0.517000 72 14 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231298823 231298823 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:231298823G>A ENST00000444294.3 + 1 966 c.108G>A c.(106-108)gtG>gtA p.V36V TRIM67_ENST00000366652.2_Silent_p.V36V|TRIM67_ENST00000366653.5_Silent_p.V36V|TRIM67_ENST00000449018.3_Silent_p.V36V NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 36 cytoplasm|cytoskeleton zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CCATCGCGGTGCAGACCCCGG 0.682000 9 6 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921210 12921210 + Missense_Mutation SNP G G A rs141943881 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:12921210G>A ENST00000240189.2 + 4 1088 c.1001G>A c.(1000-1002)cGc>cAc p.R334H NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 334 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTGCTGTTCCGCATCAGTCTT 0.507000 6 412 0 0 1 0 0 AOAH 313 broad.mit.edu 37 7 36677472 36677472 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:36677472C>T ENST00000431169.1 - 5 735 c.435G>A c.(433-435)aaG>aaA p.K145K AOAH_ENST00000535891.1_Silent_p.K113K|AOAH_ENST00000258749.5_Silent_p.K145K NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 145 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 TCGGGGACTTCTTGACAATTT 0.433000 13 37 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53472582 53472582 + RNA SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:53472582G>A ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TAGCATTACTGAGGACTTTGT 0.368000 4 6 0 0 1 0 0 CERS6 253782 broad.mit.edu 37 2 169313123 169313123 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:169313123C>G ENST00000305747.6 + 1 752 c.165C>G c.(163-165)ttC>ttG p.F55L CERS6_ENST00000392687.4_Missense_Mutation_p.F55L NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 55 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GGCTCATCTTCGAGAGGTAAG 0.652000 13 26 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197889969 197889969 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:197889969C>A ENST00000328737.2 - 17 1674 c.1598G>T c.(1597-1599)gGa>gTa p.G533V ANKRD44_ENST00000450567.1_Missense_Mutation_p.G533V|ANKRD44_ENST00000337207.5_Missense_Mutation_p.G533V|ANKRD44_ENST00000282272.8_Missense_Mutation_p.G550V Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 558 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) TTCTTCAAATCCACTGTTTGT 0.393000 4 57 1.23904e-05 1.26766e-05 1 1 0 COL7A1 1294 broad.mit.edu 37 3 48623270 48623270 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:48623270C>G ENST00000328333.8 - 29 3886 c.3779G>C c.(3778-3780)gGa>gCa p.G1260A COL7A1_ENST00000454817.1_Missense_Mutation_p.G1260A NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1260 Interrupted collagenous region.|Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CACCATCTCTCCAGGTTCCCC 0.587000 22 394 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49957477 49957477 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:49957477G>A ENST00000376056.2 - 5 2010 c.1860C>T c.(1858-1860)atC>atT p.I620I AKAP4_ENST00000358526.2_Silent_p.I629I|AKAP4_ENST00000376058.2_Silent_p.I246I|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.I620I Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 629 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) GCATTAGAACGATGTTTGACA 0.458000 83 23 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130931230 130931230 + Splice_Site SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:130931230C>T ENST00000409031.1 - 4 1392 c.e4-1 SMPD4_ENST00000431183.2_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000452225.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000351288.6_Splice_Site|SMPD4_ENST00000339679.7_Splice_Site|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000453750.1_Intron NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) TGTGCAGCTCCTGAAACAATG 0.602000 4 15 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173730548 173730548 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:173730548G>C ENST00000506823.1 + 6 1247 c.590G>C c.(589-591)cGa>cCa p.R197P GALNTL6_ENST00000508122.1_Missense_Mutation_p.R180P NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 197 Catalytic subdomain A. Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 TACATGGCCCGATTTTCCAAA 0.448000 43 63 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109671638 109671638 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:109671638G>A ENST00000338432.7 + 30 4344 c.4225G>A c.(4225-4227)Gag>Aag p.E1409K ACACB_ENST00000543201.1_Missense_Mutation_p.E75K|ACACB_ENST00000377854.5_Missense_Mutation_p.E1339K|ACACB_ENST00000377848.3_Missense_Mutation_p.E1409K O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1409 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCTATACTCCGAGGATGACTG 0.607000 4 75 0 0 1 0 0 PCDH20 64881 broad.mit.edu 37 13 61987749 61987749 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:61987749C>T ENST00000409186.1 - 5 2588 c.483G>A c.(481-483)gcG>gcA p.A161A PCDH20_ENST00000409204.4_Silent_p.A161A Q8N6Y1 PCD20_HUMAN protocadherin 20 134 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 58 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TGCCGCTCCACGCAGTCCCTC 0.572000 27 13 0 0 1 0 0 NUP155 9631 broad.mit.edu 37 5 37326014 37326014 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:37326014C>G ENST00000231498.3 - 19 2283 c.2080G>C c.(2080-2082)Gag>Cag p.E694Q NUP155_ENST00000381843.2_Missense_Mutation_p.E635Q|NUP155_ENST00000513532.1_Missense_Mutation_p.E694Q NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 694 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GCAGTGATCTCTCTGTTGCCA 0.313000 74 59 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72975702 72975702 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:72975702C>T ENST00000262209.4 - 5 864 c.657G>A c.(655-657)agG>agA p.R219R NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 219 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) ACTCACCAAACCTTAGTATTA 0.323000 44 33 0 0 1 0 0 PSD 5662 broad.mit.edu 37 10 104172193 104172193 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:104172193G>T ENST00000020673.5 - 6 2219 c.1693C>A c.(1693-1695)Ctg>Atg p.L565M PSD_ENST00000406432.1_Missense_Mutation_p.L565M NM_001270966.1|NM_002779.4 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 565 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) AGTCGGTACAGCCTCTTGGCC 0.627000 30 31 5.60225e-13 5.95439e-13 1 1 0 PRKD1 5587 broad.mit.edu 37 14 30135405 30135405 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:30135405G>C ENST00000331968.5 - 3 642 c.413C>G c.(412-414)aCc>aGc p.T138S PRKD1_ENST00000415220.2_Missense_Mutation_p.T138S NM_002742.2 NP_002733.2 Q15139 KPCD1_HUMAN protein kinase D1 138 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 78 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) GTCTTCAAAGGTGGCGGAAGC 0.413000 58 9 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76877755 76877755 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:76877755G>A ENST00000328299.3 + 3 424 c.276G>A c.(274-276)caG>caA p.Q92Q ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 92 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TGGTTGGCCAGAAGGTGGGAA 0.443000 60 39 0 0 1 0 0 TRAPPC2L 51693 broad.mit.edu 37 16 88925045 88925045 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:88925045C>A ENST00000565504.1 + 2 76 c.52C>A c.(52-54)Cgc>Agc p.R18S TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.R18S|TRAPPC2L_ENST00000564365.1_5'UTR|TRAPPC2L_ENST00000567895.1_Intron|TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.R18S|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.R18S|TRAPPC2L_ENST00000561840.1_Intron Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 18 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) CCTCTACATTCGCAGCACCCC 0.552000 OREG0024050 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 108 103 9.55279e-52 1.04889e-51 1 1 0 NPBWR2 2832 broad.mit.edu 37 20 62738020 62738020 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:62738020G>C ENST00000369768.1 - 1 504 c.165C>G c.(163-165)atC>atG p.I55M NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 55 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) CCACAGCACAGATCCCGGAGT 0.597000 25 69 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61417469 61417469 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:61417469C>T ENST00000398571.2 - 78 9886 c.9810G>A c.(9808-9810)caG>caA p.Q3270Q AHSA2_ENST00000394457.3_3'UTR NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 3270 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACTGTAGGTTCTGATACTGGC 0.383000 28 71 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38829392 38829392 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:38829392C>G ENST00000436693.2 - 2 1822 c.1703G>C c.(1702-1704)aGa>aCa p.R568T TLR6_ENST00000381950.1_Missense_Mutation_p.R568T NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 568 LRRCT. activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGGGCTTCCTCTATAACTTTC 0.433000 72 215 0 0 1 0 0 DERA 51071 broad.mit.edu 37 12 16189258 16189258 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:16189258G>A ENST00000428559.2 + 8 1055 c.843G>A c.(841-843)ctG>ctA p.L281L DERA_ENST00000532964.1_Silent_p.L238L|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000526530.1_Silent_p.L193L NM_015954.2 NP_057038.2 Q9Y315 DEOC_HUMAN deoxyribose-phosphate aldolase (putative) 281 deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process cytoplasm deoxyribose-phosphate aldolase activity|protein binding endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 Hepatocellular(102;0.121) ATGAGTGGCTGAAGCCAGAAC 0.463000 12 50 0 0 1 0 0 CAPN1 823 broad.mit.edu 37 11 64978304 64978304 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:64978304C>T ENST00000527323.1 + 20 2319 c.2079C>T c.(2077-2079)gaC>gaT p.D693D CAPN1_ENST00000533129.1_Silent_p.D693D|CAPN1_ENST00000524773.1_Silent_p.D693D|CAPN1_ENST00000533820.1_Silent_p.D693D|CAPN1_ENST00000279247.6_Silent_p.D693D P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 693 Domain IV.|EF-hand 4. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) AAACTCTGGACACAGATCTGG 0.502000 7 133 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145694704 145694704 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:145694704C>T ENST00000301332.2 + 11 1541 c.1164C>T c.(1162-1164)ctC>ctT p.L388L KIFC2_ENST00000301331.5_Silent_p.L136L NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 388 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) GCACTCAGCTCCCTGAGGGGC 0.672000 27 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179436318 179436318 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:179436318C>G ENST00000589042.1 - 326 74765 c.74541G>C c.(74539-74541)gaG>gaC p.E24847D TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22279D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E15907D|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E15974D|TTN_ENST00000591111.1_Missense_Mutation_p.E23206D|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E15782D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23206 Fibronectin type-III 81. 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) TGTCCCGTTTCTCAACAATGT 0.423000 24 10 0 0 1 0 0 ZNF256 10172 broad.mit.edu 37 19 58452586 58452586 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:58452586C>G ENST00000282308.3 - 3 1786 c.1590G>C c.(1588-1590)caG>caC p.Q530H ZNF256_ENST00000598928.1_3'UTR NM_005773.2 NP_005764.2 Q9Y2P7 ZN256_HUMAN zinc finger protein 256 530 multicellular organismal development|negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 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;0.0155) GGCTGGAGCTCTGGCTAAAAA 0.453000 4 86 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172550196 172550196 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:172550196G>C ENST00000540014.1 + 9 2120 c.1801G>C c.(1801-1803)Gat>Cat p.D601H CREBRF_ENST00000296953.2_Missense_Mutation_p.D599H Q8IUR6 CE041_HUMAN CREB3 regulatory factor 599 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity CCTCATTAAAGATACTCTCGG 0.353000 55 31 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134647015 134647015 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:134647015C>G ENST00000368586.5 - 50 7064 c.6964G>C c.(6964-6966)Gag>Cag p.E2322Q TTC40_ENST00000263170.5_Missense_Mutation_p.E483Q NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 483 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TCGGCAACCTCAGGCTGGACT 0.582000 9 175 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57007814 57007814 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:57007814G>A ENST00000179765.5 - 5 948 c.749C>T c.(748-750)tCa>tTa p.S250L BAZ2A_ENST00000379441.3_Missense_Mutation_p.S252L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S280L|BAZ2A_ENST00000551812.1_Missense_Mutation_p.S282L Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 282 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 AGGAAGATGTGAAGGATCATC 0.512000 35 26 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56171380 56171380 + Splice_Site SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:56171380C>T ENST00000361673.3 - 11 6243 c.6030G>A c.(6028-6030)gaG>gaA p.E2010E NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 2010 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TAGGAATGATCCTGGCAGGGA 0.498000 4 86 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75873564 75873564 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:75873564G>A ENST00000377636.3 - 17 3404 c.3058C>T c.(3058-3060)Ctg>Ttg p.L1020L TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Silent_p.L1012L|TBC1D4_ENST00000377625.2_Silent_p.L957L|TBC1D4_ENST00000425511.1_Silent_p.L184L NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1020 Rab-GAP TBC. cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CTCATGTGCAGAAGCAGGACT 0.493000 19 28 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34962168 34962168 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:34962168G>C ENST00000360359.3 + 10 1530 c.1392G>C c.(1390-1392)aaG>aaC p.K464N ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 464 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CAGAGACAAAGAAAGTGGTGT 0.468000 38 43 0 0 1 0 0 SNHG5 387066 broad.mit.edu 37 6 86387016 86387016 + RNA SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:86387016C>G ENST00000384338.1 - 0 70 NR_002743.2 CGGTCCATCTCAGAAGCCAGA 0.323000 29 29 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455565 187455565 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:187455565C>T ENST00000307161.5 - 2 532 c.331G>A c.(331-333)Gtc>Atc p.V111I RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 111 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity p.V111I(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GAGCCGATGACGCTCAGGCCC 0.517000 28 40 0 0 1 0 0 THAP4 51078 broad.mit.edu 37 2 242541376 242541376 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:242541376C>G ENST00000407315.1 - 5 1980 c.1549G>C c.(1549-1551)Gag>Cag p.E517Q THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402136.1_Missense_Mutation_p.E105Q|THAP4_ENST00000402545.1_Missense_Mutation_p.E105Q NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 517 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) ATGCACAGCTCCTGCCCGTTC 0.647000 17 27 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31669361 31669361 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:31669361G>C ENST00000395934.2 + 8 1007 c.1000G>C c.(1000-1002)Gag>Cag p.E334Q ELP4_ENST00000350638.5_Missense_Mutation_p.E334Q|ELP4_ENST00000379163.5_Missense_Mutation_p.E335Q|Z83001.1_ENST00000429821.1_RNA Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 334 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) TATTGGTTCTGAGAGAGAAAC 0.403000 7 72 0 0 1 0 0 FRMD5 84978 broad.mit.edu 37 15 44166565 44166565 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:44166565C>G ENST00000417257.1 - 14 1407 c.1231G>C c.(1231-1233)Gat>Cat p.D411H FRMD5_ENST00000484674.1_Missense_Mutation_p.D317H|FRMD5_ENST00000402883.1_Missense_Mutation_p.D411H NM_032892.3 NP_116281.2 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 411 cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TCATTGCTATCTGTCCGGCTG 0.592000 4 96 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76461434 76461434 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:76461434C>A ENST00000307431.8 + 5 858 c.473C>A c.(472-474)cCt>cAt p.P158H CNTNAP4_ENST00000478060.1_Missense_Mutation_p.P134H|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.P158H|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.P162H NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 159 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CGCTTCATCCCTTTGGAATGG 0.418000 69 59 7.59065e-32 8.26616e-32 1 1 0 DPY19L2P2 349152 broad.mit.edu 37 7 102912190 102912190 + RNA SNP T T G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:102912190T>G ENST00000312132.4 - 0 2389 TCTGGATAAATATGGAAGCGT 0.343000 7 39 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176637763 176637763 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:176637763G>C ENST00000439151.2 + 5 2408 c.2363G>C c.(2362-2364)cGa>cCa p.R788P NSD1_ENST00000347982.4_Missense_Mutation_p.R519P|NSD1_ENST00000361032.4_Missense_Mutation_p.R685P|NSD1_ENST00000354179.4_Missense_Mutation_p.R519P NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 788 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CCCAAGTTCCGAAGTATAAAG 0.418000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 23 53 0 0 1 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24958917 24958917 + Splice_Site SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:24958917C>G ENST00000289968.6 - 14 1197 c.e14-1 ARHGAP17_ENST00000441763.2_Splice_Site|ARHGAP17_ENST00000303665.5_Splice_Site NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GATCAAATATCTAGGGGTCAA 0.468000 5 72 0 0 1 0 0 ZBTB17 7709 broad.mit.edu 37 1 16269565 16269565 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:16269565G>A ENST00000375733.2 - 13 2060 c.1822C>T c.(1822-1824)Cac>Tac p.H608Y ZBTB17_ENST00000537142.1_Missense_Mutation_p.H526Y|ZBTB17_ENST00000375743.4_Missense_Mutation_p.H608Y Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 608 negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2) 15 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) TCACCAGTGTGAATGATGATG 0.617000 38 29 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033396 30033396 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:30033396C>G ENST00000328224.6 - 2 2063 c.830G>C c.(829-831)aGa>aCa p.R277T NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 277 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 TTCCTCTTCTCTCACAAAGCC 0.512000 21 22 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99567688 99567688 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:99567688C>T ENST00000376460.1 - 8 867 c.787G>A c.(787-789)Gac>Aac p.D263N DOCK9_ENST00000339416.2_Missense_Mutation_p.D264N|DOCK9_ENST00000448493.2_Missense_Mutation_p.D275N|DOCK9_ENST00000442173.1_Missense_Mutation_p.D263N NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 264 PH. blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACTTCACTGTCTGCTGCCAAG 0.398000 36 21 0 0 1 0 0 OR2M7 391196 broad.mit.edu 37 1 248487040 248487040 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:248487040G>A ENST00000317965.2 - 1 859 c.831C>T c.(829-831)ttC>ttT p.F277F NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CGATGGTGTAGAATACAGACA 0.458000 50 57 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40703421 40703421 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:40703421C>G ENST00000372771.4 + 8 3074 c.3047C>G c.(3046-3048)tCa>tGa p.S1016* NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1016 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) AAACCCTGCTCAGATACAAAC 0.383000 89 46 0 0 1 0 0 HSPA8 3312 broad.mit.edu 37 11 122930347 122930347 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:122930347C>G ENST00000534624.1 - 5 1230 c.954G>C c.(952-954)gaG>gaC p.E318D HSPA8_ENST00000533540.1_Missense_Mutation_p.E172D|HSPA8_ENST00000526110.1_Missense_Mutation_p.E299D|HSPA8_ENST00000534319.1_Missense_Mutation_p.E82D|HSPA8_ENST00000532636.1_Missense_Mutation_p.E318D|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.E318D|HSPA8_ENST00000453788.2_Missense_Mutation_p.E318D NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 318 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GAAGGGCTTTCTCTACTGGGT 0.473000 32 7 0 0 1 0 0 TCEA2 6919 broad.mit.edu 37 20 62699426 62699426 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:62699426C>T ENST00000395053.3 + 4 423 c.268C>T c.(268-270)Cgg>Tgg p.R90W TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000361317.2_Missense_Mutation_p.R63W|TCEA2_ENST00000343484.5_Missense_Mutation_p.R90W Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 90 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) AGCCAGGGAGCGGGGGAGGGG 0.637000 10 47 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77700111 77700111 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:77700111C>T ENST00000296043.6 + 11 6725 c.5772C>T c.(5770-5772)ttC>ttT p.F1924F RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1924 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ACCAGCACTTCGTGAAAATGA 0.567000 71 49 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128478774 128478774 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:128478774C>T ENST00000325888.8 + 8 1589 c.1328C>T c.(1327-1329)gCc>gTc p.A443V FLNC_ENST00000346177.6_Missense_Mutation_p.A443V NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 443 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TACAGACCTGCCATGGAGGGG 0.637000 97 11 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6184142 6184142 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:6184142C>A ENST00000262450.3 - 31 4664 c.4565G>T c.(4564-4566)gGg>gTg p.G1522V CHD5_ENST00000378021.1_Missense_Mutation_p.G379V NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1522 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCTGTACTTCCCGTTGACATG 0.632000 14 32 1.15088e-07 1.2026e-07 1 1 0 HIST1H4D 8360 broad.mit.edu 37 6 26189115 26189115 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:26189115C>G ENST00000340756.2 - 1 189 c.190G>C c.(190-192)Gaa>Caa p.E64Q NM_003539.3 NP_003530.1 P62805 H4_HUMAN histone cluster 1, H4d 64 E -> Q (in a breast cancer sample; somatic mutation). CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1) 8 all_hematologic(11;0.196) ATTACATTTTCCAGGAAAACT 0.587000 49 26 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44271761 44271761 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:44271761C>T ENST00000262888.3 - 8 1613 c.1218G>A c.(1216-1218)ctG>ctA p.L406L NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 406 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) GCAGCTCAGTCAGGGCATCCA 0.607000 10 63 0 0 1 0 0 SLC4A10 57282 broad.mit.edu 37 2 162821638 162821638 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:162821638G>A ENST00000375514.5 + 23 3344 c.3057G>A c.(3055-3057)ttG>ttA p.L1019L SLC4A10_ENST00000446997.1_Silent_p.L1038L|SLC4A10_ENST00000421911.1_Silent_p.L1038L|SLC4A10_ENST00000415876.2_Silent_p.L1008L|SLC4A10_ENST00000272716.5_Silent_p.L1008L NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 1038 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TGGATGATTTGATGCCCGAGA 0.343000 12 26 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114123165 114123165 + Splice_Site SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:114123165C>T ENST00000369615.1 + 3 497 c.435C>T c.(433-435)tgC>tgT p.C145C MAGI3_ENST00000307546.9_Splice_Site_p.C145C|MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000369611.4_Splice_Site_p.C145C|MAGI3_ENST00000369617.4_Splice_Site_p.C145C NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 145 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTTCTTAGGCACTACAAGGG 0.353000 42 46 0 0 1 0 0 LTN1 26046 broad.mit.edu 37 21 30365150 30365150 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr21:30365150G>C ENST00000389194.2 - 1 120 c.115C>G c.(115-117)Cag>Gag p.Q39E LTN1_ENST00000389195.2_Missense_Mutation_p.Q39E|LTN1_ENST00000361371.5_5'UTR NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 0 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 GCTGTACTCTGAGCACTCAGA 0.637000 11 27 0 0 1 0 0 KIAA0391 9692 broad.mit.edu 37 14 35592752 35592752 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:35592752G>A ENST00000557565.1 + 2 682 c.301G>A c.(301-303)Gaa>Aaa p.E101K KIAA0391_ENST00000534898.4_Missense_Mutation_p.E101K|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000604948.1_Missense_Mutation_p.E6K|KIAA0391_ENST00000250377.7_Missense_Mutation_p.E6K|KIAA0391_ENST00000321130.10_Missense_Mutation_p.E101K|KIAA0391_ENST00000603544.1_Missense_Mutation_p.E101K|KIAA0391_ENST00000603588.1_Intron NM_001282234.1 NP_001269163.1 O15091 MRRP3_HUMAN KIAA0391 101 tRNA processing mitochondrion central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 14 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) TTCTCAAACTGAAGATCATGC 0.388000 32 9 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11441440 11441440 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:11441440C>G ENST00000423059.4 - 23 4644 c.4393G>C c.(4393-4395)Gaa>Caa p.E1465Q AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A TSP type-1 15. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GATTTTGTTTCTAACATCTGC 0.363000 HNSCC(18;0.044) 42 15 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23292274 23292274 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:23292274G>A ENST00000298032.5 + 13 1746 c.1662G>A c.(1660-1662)ctG>ctA p.L554L ARMC3_ENST00000376528.4_Silent_p.L291L|ARMC3_ENST00000409049.3_Silent_p.L554L|ARMC3_ENST00000409983.3_Silent_p.L554L NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 554 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATCTTTCCCTGAAATACAGCC 0.353000 57 77 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61071442 61071442 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:61071442G>A ENST00000301764.7 - 22 3124 c.2727C>T c.(2725-2727)atC>atT p.I909I DDB1_ENST00000450997.2_Silent_p.I220I NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 909 Interaction with CDT1 and CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AGAGGGCCATGATGTTGTTGT 0.557000 Nucleotide excision repair (NER) 4 160 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105198494 105198494 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:105198494C>T ENST00000369797.3 + 27 4048 c.3954C>T c.(3952-3954)atC>atT p.I1318I NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 1318 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) TTAACTCCATCCAGGACATTA 0.512000 47 51 0 0 1 0 0 KDM3B 51780 broad.mit.edu 37 5 137762695 137762695 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:137762695G>T ENST00000314358.5 + 18 4643 c.4443G>T c.(4441-4443)atG>atT p.M1481I KDM3B_ENST00000394866.1_Missense_Mutation_p.M1137I|KDM3B_ENST00000542866.1_Missense_Mutation_p.M513I NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1481 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 GGCAGCCAATGGTGCTCAAAC 0.493000 5 63 0.000157383 0.000159441 1 1 0 XDH 7498 broad.mit.edu 37 2 31587027 31587027 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:31587027C>G ENST00000379416.3 - 24 2676 c.2628G>C c.(2626-2628)caG>caC p.Q876H NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 876 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TACTCACACTCTGAGAGAGAT 0.572000 23 52 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83378596 83378596 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:83378596G>A ENST00000566620.1 + 6 1056 c.766G>A c.(766-768)Gaa>Aaa p.E256K CDH13_ENST00000428848.3_Missense_Mutation_p.E217K|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.E303K NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 256 Cadherin 2. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CCACGTCATGGAAGGGTCACC 0.507000 35 80 0 0 1 0 0 C21orf58 54058 broad.mit.edu 37 21 47742640 47742640 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr21:47742640G>A ENST00000291691.7 - 1 1149 c.13C>T c.(13-15)Cgg>Tgg p.R5W C21orf58_ENST00000397685.4_5'UTR|C21orf58_ENST00000397680.1_Intron|C21orf58_ENST00000397682.3_5'UTR NM_058180.3 NP_478060.2 P58505 CU058_HUMAN chromosome 21 open reading frame 58 5 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1) 9 Breast(49;0.112) Colorectal(79;0.239) gcagggagccgagatcgcgcc 0.572000 6 5 0 0 1 0 0 HHIPL2 79802 broad.mit.edu 37 1 222700314 222700314 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:222700314G>A ENST00000343410.6 - 7 1860 c.1802C>T c.(1801-1803)tCa>tTa p.S601L NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 601 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) ATCTCACCTTGAGGGGTCAAC 0.428000 9 11 0 0 1 0 0 FDCSP 260436 broad.mit.edu 37 4 71098715 71098715 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:71098715C>G ENST00000317987.5 + 3 174 c.62C>G c.(61-63)tCt>tGt p.S21C NM_152997.3 NP_694542.1 Q8NFU4 FDSCP_HUMAN follicular dendritic cell secreted protein 21 extracellular region CTTTAGGTCTCTCAAGACCAG 0.269000 4 83 0 0 1 0 0 RBM7 10179 broad.mit.edu 37 11 114278279 114278279 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:114278279C>G ENST00000540163.1 + 5 1193 c.551C>G c.(550-552)tCt>tGt p.S184C RBM7_ENST00000545678.1_Missense_Mutation_p.S64C|RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000544582.1_Intron|RBM7_ENST00000375490.5_Missense_Mutation_p.S185C|RP11-212D19.4_ENST00000544347.1_Intron Q9Y580 RBM7_HUMAN RNA binding motif protein 7 184 meiosis nucleotide binding|protein binding|RNA binding p.S184F(1) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) TTCAATCAGTCTTCAAGCTCC 0.423000 5 84 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173337526 173337526 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:173337526C>G ENST00000375221.2 + 6 1003 c.800C>G c.(799-801)tCc>tGc p.S267C ITGA6_ENST00000264106.6_Missense_Mutation_p.S267C|ITGA6_ENST00000343713.4_Missense_Mutation_p.S223C|ITGA6_ENST00000409532.1_Missense_Mutation_p.S109C|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000264107.7_Intron P23229 ITA6_HUMAN integrin, alpha 6 267 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) ACCAGCGTTTCCTATACAGAT 0.473000 51 49 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34236484 34236484 + RNA SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:34236484G>A ENST00000587132.1 - 0 1543 TGGAGGTTGGGGTACAAATTC 0.488000 17 31 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95186219 95186219 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:95186219G>A ENST00000027335.3 - 7 713 c.589C>T c.(589-591)Cag>Tag p.Q197* CDH17_ENST00000450165.2_Nonsense_Mutation_p.Q197*|CDH17_ENST00000441892.2_Intron NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 197 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTCAATTCCTGAGATCCTGTG 0.478000 23 106 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1546277 1546277 + Silent SNP T T A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:1546277T>A ENST00000337415.3 + 16 2794 c.2703T>A c.(2701-2703)gcT>gcA p.A901A TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_3'UTR|TPO_ENST00000345913.4_3'UTR|TPO_ENST00000346956.3_3'UTR|TPO_ENST00000329066.4_3'UTR|TPO_ENST00000382201.3_3'UTR P07202 PERT_HUMAN thyroid peroxidase 0 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCAGAACAGCTTCATGTTCCC 0.512000 8 23 0 0 1 0 0 SCYL3 57147 broad.mit.edu 37 1 169828278 169828278 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:169828278G>C ENST00000367771.6 - 11 1430 c.1216C>G c.(1216-1218)Ctg>Gtg p.L406V SCYL3_ENST00000367772.4_Missense_Mutation_p.L406V|SCYL3_ENST00000367770.1_Missense_Mutation_p.L406V|SCYL3_ENST00000470238.1_5'UTR NM_020423.6 NP_065156.5 Q8IZE3 PACE1_HUMAN SCY1-like 3 (S. cerevisiae) cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGTCCAAGCAGAGAGACCAGC 0.473000 83 63 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47492821 47492821 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:47492821G>C ENST00000404338.3 + 4 3925 c.3925G>C c.(3925-3927)Gag>Cag p.E1309Q NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1309 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GGACCTGGCAGAGAAAGACTT 0.532000 37 32 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17038868 17038868 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:17038868G>A ENST00000443236.1 - 25 3493 c.3462C>T c.(3460-3462)gtC>gtT p.V1154V NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1107 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CGCCGTGTGGGACCCCCAGGG 0.632000 83 59 0 0 1 0 0 C1orf43 25912 broad.mit.edu 37 1 154192352 154192352 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:154192352C>G ENST00000368521.5 - 2 326 c.128G>C c.(127-129)cGa>cCa p.R43P C1orf43_ENST00000368518.1_Missense_Mutation_p.R43P|C1orf43_ENST00000350592.3_Intron|C1orf43_ENST00000368516.1_Intron|C1orf43_ENST00000368519.1_Missense_Mutation_p.R43P|C1orf43_ENST00000362076.4_Intron NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 43 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) AGGTCCCCTTCGAGATTTCAT 0.408000 7 28 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79363927 79363927 + RNA SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:79363927C>T ENST00000444841.1 - 0 411 CGGTGGGGGTCATGGAGGCCA 0.502000 8 19 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42474410 42474410 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:42474410C>G ENST00000545399.1 - 18 2661 c.2508G>C c.(2506-2508)aaG>aaC p.K836N ATP1A3_ENST00000602133.1_Missense_Mutation_p.K793N|ATP1A3_ENST00000543770.1_Missense_Mutation_p.K834N|ATP1A3_ENST00000302102.5_Missense_Mutation_p.K823N NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 823 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGGGCTGTCTCTTCATGATGT 0.617000 34 46 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767661 148767661 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:148767661C>T ENST00000316286.9 - 3 2217 c.1945G>A c.(1945-1947)Ggc>Agc p.G649S ZNF786_ENST00000491431.1_Missense_Mutation_p.G735S|ZNF786_ENST00000451334.3_Missense_Mutation_p.G698S Q8N393 ZN786_HUMAN zinc finger protein 786 735 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCACAATCGCCACAGGCAAAG 0.527000 5 112 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85611775 85611775 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:85611775G>C ENST00000322366.6 - 60 9603 c.9196C>G c.(9196-9198)Ctc>Gtc p.L3066V WDFY3_ENST00000295888.4_Missense_Mutation_p.L3083V Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 3083 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) ATTGCACAGAGAATCTGGCCC 0.488000 28 35 0 0 1 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871412 51871412 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:51871412C>A ENST00000371497.5 + 2 2302 c.1415C>A c.(1414-1416)aCc>aAc p.T472N TSHZ2_ENST00000329613.6_Missense_Mutation_p.T469N|TSHZ2_ENST00000603338.2_Missense_Mutation_p.T469N NM_001193421.1|NM_173485.5 NP_001180350.1|NP_775756.3 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 472 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) CCAGAGGAAACCAGCAAGGAT 0.423000 57 162 5.5144e-22 5.94252e-22 1 1 0 KCNJ6 3763 broad.mit.edu 37 21 39212961 39212961 + Splice_Site SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr21:39212961C>G ENST00000609713.1 - 2 613 c.24G>C c.(22-24)atG>atC p.M8I KCNJ6_ENST00000288309.6_Splice_Site_p.M8I NM_002240.3 NP_002231.1 P48051 IRK6_HUMAN potassium inwardly-rectifying channel, subfamily J, member 6 synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 22 Halothane(DB01159) GCTACTCACTCATGGATTCTG 0.353000 271 154 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031885 26031885 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:26031885C>G ENST00000244661.2 - 1 403 c.404G>C c.(403-405)aGa>aCa p.R135T NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 135 Missing (in Ref. 2; AAA52651). blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 CATTTACGCTCTTTCTCCGCG 0.453000 35 20 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139908299 139908299 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:139908299C>G ENST00000297183.6 + 29 5892 c.5768C>G c.(5767-5769)tCa>tGa p.S1923* ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.S1923*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.S306*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.S1923* NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTTTACCCTCAGAGTCTGCT 0.488000 15 57 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23912678 23912678 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:23912678C>G ENST00000382298.3 - 10 5925 c.5337G>C c.(5335-5337)tcG>tcC p.S1779S SACS_ENST00000402364.1_Silent_p.S1029S|SACS_ENST00000382292.3_Silent_p.S1779S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1779 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TAAAAAGTGGCGACTGTAAAT 0.418000 117 101 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86118385 86118385 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:86118385C>G ENST00000394518.2 + 6 781 c.686C>G c.(685-687)tCc>tGc p.S229C AKAP13_ENST00000361243.2_Missense_Mutation_p.S229C NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 229 apoptosis|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|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 GAACCAGACTCCTGGAGCAGT 0.428000 4 79 0 0 1 0 0 RARS 5917 broad.mit.edu 37 5 167915737 167915737 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:167915737G>A ENST00000231572.3 + 2 230 c.176G>A c.(175-177)cGa>cAa p.R59Q RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 59 Could be involved in the assembly of the multisynthetase complex. arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) AATATTCTTCGAAAGGTGAGT 0.343000 20 16 0 0 1 0 0 TTPAL 79183 broad.mit.edu 37 20 43118172 43118172 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:43118172C>G ENST00000372904.3 + 6 1162 c.1019C>G c.(1018-1020)tCc>tGc p.S340C TTPAL_ENST00000262605.4_Missense_Mutation_p.S340C|TTPAL_ENST00000372906.2_3'UTR NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 340 intracellular transporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 CAGCTGTACTCCTGCTACTAG 0.537000 14 36 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7396424 7396424 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:7396424G>A ENST00000338316.4 + 1 104 c.15G>A c.(13-15)gcG>gcA p.A5A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 5 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GGCAGGAGGCGATGCGGCGCC 0.811000 12 2 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196729194 196729194 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:196729194G>C ENST00000312428.6 - 41 7285 c.7185C>G c.(7183-7185)gtC>gtG p.V2395V NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2395 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TAAACAGGAAGACACCCTGCA 0.378000 21 42 0 0 1 0 0 SYNPO2 171024 broad.mit.edu 37 4 119952333 119952333 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:119952333C>T ENST00000307142.4 + 4 2599 c.2403C>T c.(2401-2403)acC>acT p.T801T SYNPO2_ENST00000429713.2_Silent_p.T801T|SYNPO2_ENST00000434046.2_Silent_p.T801T|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 801 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 CAAAGGGCACCGTTGTCTCCT 0.572000 5 118 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775357 24775357 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:24775357G>C ENST00000221166.5 + 3 2771 c.1989G>C c.(1987-1989)gaG>gaC p.E663D NEFM_ENST00000518131.1_Intron|NEFM_ENST00000521540.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.E287D|NEFM_ENST00000437366.2_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 663 6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CAGTGGAAGAGAAAGGCAAGT 0.498000 4 72 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 63097945 63097945 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:63097945G>C ENST00000561311.1 + 50 6854 c.6624G>C c.(6622-6624)ctG>ctC p.L2208L TLN2_ENST00000306829.6_Silent_p.L2208L Q9Y4G6 TLN2_HUMAN talin 2 2208 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CTGCCAACCTGAGCCGGAAAG 0.512000 15 31 0 0 1 0 0 GJC3 349149 broad.mit.edu 37 7 99526685 99526685 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:99526685C>T ENST00000312891.2 - 1 558 c.559G>A c.(559-561)Gag>Aag p.E187K NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein, gamma 3, 30.2kDa 187 connexon complex|integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) ATGGTCTTCTCAGAGGGGCGG 0.502000 71 93 0 0 1 0 0 EMC8 10328 broad.mit.edu 37 16 85814059 85814059 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:85814059C>A ENST00000253457.3 - 4 643 c.399G>T c.(397-399)acG>acT p.T133T EMC8_ENST00000435200.2_Intron NM_006067.4 NP_006058.1 ER membrane protein complex subunit 8 CGCAGTCCATCGTAAACTTGG 0.607000 15 17 4.7546e-09 5.00768e-09 1 1 0 KIAA1279 26128 broad.mit.edu 37 10 70775863 70775863 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:70775863C>G ENST00000361983.4 + 7 1659 c.1557C>G c.(1555-1557)ctC>ctG p.L519L NM_015634.3 NP_056449.1 Q96EK5 KBP_HUMAN KIAA1279 519 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 14 ACTACCAGCTCTTCTTAGACT 0.418000 58 62 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2877658 2877658 + Missense_Mutation SNP C C T rs2295497 by1000genomes TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:2877658C>T ENST00000355842.3 + 3 879 c.16C>T c.(16-18)Cgt>Tgt p.R6C ADD1_ENST00000398123.2_Missense_Mutation_p.R6C|ADD1_ENST00000513328.2_Missense_Mutation_p.R6C|ADD1_ENST00000503455.2_Missense_Mutation_p.R6C|ADD1_ENST00000264758.7_Missense_Mutation_p.R6C|ADD1_ENST00000398129.1_Missense_Mutation_p.R6C|ADD1_ENST00000446856.1_Missense_Mutation_p.R6C|ADD1_ENST00000398125.1_Missense_Mutation_p.R6C P35611 ADDA_HUMAN adducin 1 (alpha) 6 R -> C (in dbSNP:rs2295497). actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGTGATTCTCGTGCTGCGGT 0.443000 58 108 0 0 1 0 0 RNF17 56163 broad.mit.edu 37 13 25433165 25433165 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:25433165G>A ENST00000255324.5 + 26 3689 c.3637G>A c.(3637-3639)Gaa>Aaa p.E1213K RNF17_ENST00000381921.1_Missense_Mutation_p.E1213K|RNF17_ENST00000339524.3_Missense_Mutation_p.E265K NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 1213 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.E1213*(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AATGACAAATGAAATTCAAAG 0.308000 12 13 0 0 1 0 0 ZNF343 79175 broad.mit.edu 37 20 2463950 2463950 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:2463950C>T ENST00000278772.4 - 6 2144 c.1657G>A c.(1657-1659)Gag>Aag p.E553K RP4-734P14.4_ENST00000461548.1_Intron NM_001282495.1|NM_001282496.1|NM_024325.4 NP_001269424.1|NP_001269425.1|NP_077301.4 Q6P1L6 ZN343_HUMAN zinc finger protein 343 553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1) 25 CGGCCACACTCACTGCACACG 0.522000 43 55 0 0 1 0 0 CALCRL 10203 broad.mit.edu 37 2 188211114 188211114 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:188211114G>A ENST00000409998.1 - 16 1964 c.1183C>T c.(1183-1185)Ctg>Ttg p.L395L CALCRL_ENST00000410068.1_Silent_p.L395L|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Silent_p.L395L|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 395 integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) TTTCTTCTCAGAATTGCTTGA 0.353000 13 9 0 0 1 0 0 TTI1 9675 broad.mit.edu 37 20 36642019 36642019 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:36642019C>T ENST00000373448.2 - 3 438 c.200G>A c.(199-201)aGa>aAa p.R67K TTI1_ENST00000487362.1_Intron|TTI1_ENST00000449821.1_Missense_Mutation_p.R67K|TTI1_ENST00000373447.3_Missense_Mutation_p.R67K NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 67 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 CAAACGCTCTCTTTTGGGACC 0.483000 87 180 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200961509 200961509 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:200961509C>G ENST00000332129.2 - 16 2602 c.2286G>C c.(2284-2286)ctG>ctC p.L762L KIF21B_ENST00000360529.5_Silent_p.L762L|KIF21B_ENST00000422435.2_Silent_p.L762L|KIF21B_ENST00000461742.2_Silent_p.L762L NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 762 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TCTGCTTCATCAGGGCCACCT 0.647000 42 37 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38976669 38976669 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:38976669G>A ENST00000359357.3 + 87 12897 c.12643G>A c.(12643-12645)Gag>Aag p.E4215K DNAH8_ENST00000441566.1_Missense_Mutation_p.E4179K dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TGGTGTGGGAGAGACCCGGGA 0.433000 6 136 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55372409 55372409 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:55372409C>G ENST00000297316.4 + 2 1303 c.1099C>G c.(1099-1101)Ctg>Gtg p.L367V NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 367 Sox C-terminal. angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) TGAACAGTATCTGCACTTCGT 0.667000 14 25 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7798069 7798069 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:7798069C>T ENST00000303635.7 + 16 3916 c.3709C>T c.(3709-3711)Cac>Tac p.H1237Y CAMTA1_ENST00000439411.2_Missense_Mutation_p.H1237Y NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1237 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CAGTGAGAGCCACAAAGATTA 0.468000 T WWTR1 epitheliod hemangioendothelioma 85 55 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138764924 138764924 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:138764924G>A ENST00000242351.5 - 4 1079 c.763C>T c.(763-765)Cag>Tag p.Q255* ZC3HAV1_ENST00000464606.1_Nonsense_Mutation_p.Q255*|ZC3HAV1_ENST00000471652.1_Nonsense_Mutation_p.Q255* NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 255 response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 TGGCTGCCCTGAAAGAACCGA 0.483000 13 226 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3977937 3977937 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:3977937G>C ENST00000309311.6 - 12 2035 c.1947C>G c.(1945-1947)atC>atG p.I649M NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 649 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) CAAAGCACCAGATCTTGCGGG 0.632000 35 56 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67650659 67650659 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:67650659C>T ENST00000264010.4 + 5 1408 c.964C>T c.(964-966)Cac>Tac p.H322Y CTCF_ENST00000401394.1_5'UTR NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 322 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TACTCGTCCTCACAAGTGCCC 0.488000 137 230 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180335831 180335831 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:180335831C>G ENST00000231229.4 + 2 529 c.295C>G c.(295-297)Ctg>Gtg p.L99V BTNL8_ENST00000340184.4_Missense_Mutation_p.L99V|BTNL8_ENST00000508408.1_Missense_Mutation_p.L99V|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 99 Ig-like V-type 1. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCGCATCTCTCTGAGGCTGGA 0.522000 11 180 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38768156 38768156 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:38768156C>A ENST00000449082.2 - 16 3027 c.3028G>T c.(3028-3030)Gag>Tag p.E1010* NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1010 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCATCATCCTCCAAGTCATCA 0.552000 32 50 5.8336e-16 6.22876e-16 1 1 0 UBE2O 63893 broad.mit.edu 37 17 74398695 74398695 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:74398695G>C ENST00000319380.7 - 4 738 c.674C>G c.(673-675)tCc>tGc p.S225C NM_022066.3 NP_071349.3 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 225 ATP binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 GGCGCCGTTGGATAGCTTCAG 0.557000 8 167 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12060307 12060307 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:12060307C>G ENST00000482090.1 + 3 1832 c.1414C>G c.(1414-1416)Caa>Gaa p.Q472E ZNF763_ENST00000538752.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.Q490E|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000590798.1_Intron Q9H0M5 ZN700_HUMAN zinc finger protein 700 490 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GAAGCACCTTCAAATTCATGA 0.398000 89 53 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55539267 55539267 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:55539267C>T ENST00000219070.4 + 13 2405 c.1896C>T c.(1894-1896)ttC>ttT p.F632F MMP2_ENST00000437642.2_Silent_p.F582F|MMP2_ENST00000570308.1_Silent_p.F556F|MMP2_ENST00000543485.1_Silent_p.F556F NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 632 Hemopexin-like 4.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GCTACTTCTTCAAGGGTGCCT 0.507000 149 128 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196199275 196199275 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:196199275C>T ENST00000318037.3 - 6 1725 c.1131G>A c.(1129-1131)tcG>tcA p.S377S NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 377 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TCAGTAGGCACGACTCTTCAT 0.438000 37 93 0 0 1 0 0 CCT3 7203 broad.mit.edu 37 1 156288659 156288659 + Splice_Site SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:156288659C>G ENST00000295688.3 - 8 1039 c.759G>C c.(757-759)caG>caC p.Q253H CCT3_ENST00000368261.3_Splice_Site_p.Q208H|CCT3_ENST00000472765.2_Splice_Site_p.Q208H|CCT3_ENST00000368259.2_Splice_Site_p.Q215H NM_005998.4 NP_005989.3 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 (gamma) 253 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Hepatocellular(266;0.158) AGAACCTTACCTGGCTTTCTC 0.428000 4 42 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179647612 179647612 + Silent SNP C C T rs147603843 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:179647612C>T ENST00000589042.1 - 18 3245 c.3021G>A c.(3019-3021)gcG>gcA p.A1007A TTN_ENST00000342992.6_Silent_p.A1007A|TTN_ENST00000359218.5_Silent_p.A961A|TTN_ENST00000342175.6_Silent_p.A961A|TTN_ENST00000591111.1_Silent_p.A1007A|TTN_ENST00000460472.2_Silent_p.A961A|TTN_ENST00000360870.5_Silent_p.A1007A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1007 Ig-like 3. 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) CGCTGTCTTCCGCAAATGCTT 0.502000 4 77 0 0 1 0 0 AC015849.16 0 broad.mit.edu 37 17 34236532 34236532 + RNA SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:34236532G>C ENST00000587132.1 - 0 1495 CATGGTTGGAGAAAGTTCAAT 0.483000 15 30 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6184081 6184081 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:6184081C>T ENST00000262450.3 - 31 4725 c.4626G>A c.(4624-4626)gtG>gtA p.V1542V CHD5_ENST00000378021.1_Silent_p.V399V NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1542 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CCGAGGAGATCACCTCGCCCG 0.682000 18 19 0 0 1 0 0 CRYM 1428 broad.mit.edu 37 16 21288839 21288839 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:21288839G>C ENST00000219599.3 - 4 502 c.237C>G c.(235-237)ttC>ttG p.F79L CRYM_ENST00000415987.2_Missense_Mutation_p.F37L|CRYM_ENST00000396023.2_Missense_Mutation_p.F79L|CRYM_ENST00000543948.1_Missense_Mutation_p.F79L NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 79 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) GGTCCTCGTAGAAGGTGACCA 0.607000 61 19 0 0 1 0 0 NDUFS1 4719 broad.mit.edu 37 2 206988950 206988950 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:206988950T>C ENST00000233190.6 - 19 2409 c.2143A>G c.(2143-2145)Aca>Gca p.T715A NDUFS1_ENST00000457011.1_Missense_Mutation_p.T599A|NDUFS1_ENST00000455934.2_Missense_Mutation_p.T729A|NDUFS1_ENST00000440274.1_Missense_Mutation_p.T679A|NDUFS1_ENST00000423725.1_Missense_Mutation_p.T658A|NDUFS1_ENST00000432169.1_Missense_Mutation_p.T604A|NDUFS1_ENST00000449699.1_Missense_Mutation_p.T715A NM_005006.6 NP_004997.4 P28331 NDUS1_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 NADH(DB00157) GCACCCTCTGTGACAGCTTTG 0.403000 62 31 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32480823 32480823 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:32480823G>A ENST00000548411.1 + 5 1615 c.1434G>A c.(1432-1434)gaG>gaA p.E478E BICD1_ENST00000281474.5_Silent_p.E478E NM_001003398.1 NP_001003398.1 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 478 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) AGAGTGGTGAGAAGATGGCCC 0.453000 28 45 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32626592 32626592 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:32626592C>T ENST00000421745.2 + 8 1453 c.1319C>T c.(1318-1320)tCa>tTa p.S440L NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 440 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CTTATTCTATCAGGAGACCCA 0.403000 6 85 0 0 1 0 0 CXCR5 643 broad.mit.edu 37 11 118765356 118765356 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:118765356C>G ENST00000292174.4 + 2 1279 c.1103C>G c.(1102-1104)tCt>tGt p.S368C BCL9L_ENST00000334801.3_3'UTR NM_001716.4|NM_032966.2 NP_001707.1|NP_116743.1 P32302 CXCR5_HUMAN chemokine (C-X-C motif) receptor 5 368 B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) AATGCCACCTCTCTCACCACG 0.592000 24 3 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9067536 9067536 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:9067536G>C ENST00000397910.4 - 3 20113 c.19910C>G c.(19909-19911)tCc>tGc p.S6637C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6639 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 GCCAGGCATGGATGTGGAAAC 0.502000 82 103 0 0 1 0 0 CLHC1 130162 broad.mit.edu 37 2 55403043 55403043 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:55403043C>T ENST00000401408.1 - 13 1989 c.1644G>A c.(1642-1644)caG>caA p.Q548Q CLHC1_ENST00000407122.1_Silent_p.Q548Q|CLHC1_ENST00000406076.1_Silent_p.Q426Q|CLHC1_ENST00000494539.1_5'UTR|CLHC1_ENST00000406437.2_Silent_p.Q99Q NM_152385.2 NP_689598.2 clathrin heavy chain linker domain containing 1 CAAAGCCATTCTGTGAACATA 0.373000 46 23 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578227 7578227 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:7578227C>T ENST00000420246.2 - 6 754 c.622G>A c.(622-624)Gac>Aac p.D208N TP53_ENST00000445888.2_Missense_Mutation_p.D208N|TP53_ENST00000413465.2_Missense_Mutation_p.D208N|TP53_ENST00000455263.2_Missense_Mutation_p.D208N|TP53_ENST00000269305.4_Missense_Mutation_p.D208N|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D208N NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 208 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.?(5)|p.D207fs*6(2)|p.D208N(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.D208H(1)|p.E204fs*39(1)|p.D208Y(1)|p.E204_N210delEYLDDRN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTGTTTCTGTCATCCAAATAC 0.537000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 3 37 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172241112 172241112 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:172241112G>C ENST00000241261.2 - 1 185 c.63C>G c.(61-63)atC>atG p.I21M TNFSF10_ENST00000420541.2_Missense_Mutation_p.I21M NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 21 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCACTGTGAAGATCACGATCA 0.552000 8 97 0 0 1 0 0 SH2B3 10019 broad.mit.edu 37 12 111885584 111885584 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:111885584G>A ENST00000341259.2 + 7 1718 c.1361G>A c.(1360-1362)tGt>tAt p.C454Y SH2B3_ENST00000538307.1_Missense_Mutation_p.C252Y NM_005475.2 NP_005466.1 Q9UQQ2 SH2B3_HUMAN SH2B adaptor protein 3 454 SH2. blood coagulation cytosol signal transducer activity central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 10 GGCGCCGCCTGTGATGTCCGG 0.647000 19 44 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72862345 72862345 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:72862345G>A ENST00000455107.2 - 6 699 c.283C>T c.(283-285)Cgg>Tgg p.R95W FDXR_ENST00000581530.1_Missense_Mutation_p.R139W|FDXR_ENST00000582944.1_Missense_Mutation_p.R131W|FDXR_ENST00000420580.2_Missense_Mutation_p.R99W|FDXR_ENST00000293195.5_Missense_Mutation_p.R139W|FDXR_ENST00000442102.2_Missense_Mutation_p.R182W|FDXR_ENST00000544854.1_Missense_Mutation_p.R87W|FDXR_ENST00000413947.2_Missense_Mutation_p.R170W|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000583917.1_Missense_Mutation_p.R140W P22570 ADRO_HUMAN ferredoxin reductase 139 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) TCCAGGGCCCGATGGTCCTCT 0.642000 4 65 0 0 1 0 0 THRSP 7069 broad.mit.edu 37 11 77774998 77774998 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:77774998T>C ENST00000281030.2 + 1 92 c.71T>C c.(70-72)gTg>gCg p.V24A NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron NM_003251.3 NP_003242.1 Q92748 THRSP_HUMAN thyroid hormone responsive 24 lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;2.15e-25) GCAGCCGAGGTGCACAACATG 0.612000 33 731 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119134180 119134180 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:119134180C>G ENST00000264245.4 + 12 3936 c.3404C>G c.(3403-3405)tCt>tGt p.S1135C NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 1135 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 ATGCAGGTCTCTGAGCCAGGA 0.522000 35 29 0 0 1 0 0 HIST1H2BD 3017 broad.mit.edu 37 6 26158469 26158469 + Silent SNP G G A rs145666937 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:26158469G>A ENST00000289316.2 + 1 96 c.72G>A c.(70-72)aaG>aaA p.K24K HIST1H2BD_ENST00000377777.4_Silent_p.K24K NM_138720.2 NP_619790.1 P58876 H2B1D_HUMAN histone cluster 1, H2bd 24 nucleosome assembly nucleosome|nucleus DNA binding p.K24K(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 24 AGGCTCAGAAGAAGGACGGGA 0.537000 84 55 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934105 4934105 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:4934105C>G ENST00000345988.2 - 22 4640 c.4551G>C c.(4549-4551)caG>caC p.Q1517H PPL_ENST00000590782.2_Missense_Mutation_p.Q1515H NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 1517 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 TCTTGAGCCTCTGGATCTCTT 0.617000 27 16 0 0 1 0 0 DIS3L 115752 broad.mit.edu 37 15 66618326 66618326 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:66618326G>A ENST00000319194.5 + 12 1837 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K DIS3L_ENST00000441424.2_3'UTR|DIS3L_ENST00000319212.4_Missense_Mutation_p.E609K|RP11-352G18.2_ENST00000565993.1_RNA NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 609 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGATATTCCAGAATTCAAAGA 0.453000 5 133 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48874719 48874719 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:48874719G>A ENST00000262105.2 + 3 551 c.342G>A c.(340-342)caG>caA p.Q114Q MCM4_ENST00000523944.1_Silent_p.Q114Q NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 114 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CTGTGAGACAGAGGCCTGACC 0.547000 9 78 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C G rs121912660 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:7577099C>G ENST00000420246.2 - 8 971 c.839G>C c.(838-840)aGa>aCa p.R280T TP53_ENST00000445888.2_Missense_Mutation_p.R280T|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R280T|TP53_ENST00000269305.4_Missense_Mutation_p.R280T|TP53_ENST00000359597.4_Missense_Mutation_p.R280T NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 280 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 15 4 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39376112 39376112 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:39376112G>A ENST00000545653.1 - 12 2701 c.2171C>T c.(2170-2172)tCa>tTa p.S724L DAB2_ENST00000509337.1_Missense_Mutation_p.S724L|DAB2_ENST00000320816.6_Missense_Mutation_p.S745L|DAB2_ENST00000339788.6_Missense_Mutation_p.S527L NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 745 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GGCTTGTGATGAACCAAAAGA 0.418000 84 65 0 0 1 0 0 CLSTN2 64084 broad.mit.edu 37 3 140167465 140167465 + Missense_Mutation SNP G G A rs142015908 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:140167465G>A ENST00000458420.3 + 6 1082 c.892G>A c.(892-894)Gtc>Atc p.V298I NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 298 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CCTCCAGATCGTCACAGAGCT 0.537000 HNSCC(16;0.037) 5 147 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271981 1271981 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:1271981C>T ENST00000447027.1 + 31 13938 c.13880C>T c.(13879-13881)aCa>aTa p.T4627I MUC5B_ENST00000529681.1_Missense_Mutation_p.T4624I Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4624 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) acaaccaccacacccacaacc 0.647000 43 3 0 0 1 0 0 XAB2 56949 broad.mit.edu 37 19 7684654 7684654 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:7684654C>T ENST00000358368.4 - 18 2522 c.2485G>A c.(2485-2487)Gag>Aag p.E829K XAB2_ENST00000534844.1_Missense_Mutation_p.E826K NM_020196.2 NP_064581.2 Q9HCS7 SYF1_HUMAN XPA binding protein 2 829 transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 26 AGGTCCATCTCGTCCTCGTCC 0.701000 Direct reversal of damage;Nucleotide excision repair (NER) 11 634 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155823429 155823429 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:155823429G>A ENST00000437809.1 - 2 265 c.143C>T c.(142-144)tCc>tTc p.S48F GON4L_ENST00000361040.5_Missense_Mutation_p.S48F|GON4L_ENST00000271883.5_Missense_Mutation_p.S48F|GON4L_ENST00000368331.1_Missense_Mutation_p.S48F|GON4L_ENST00000471341.1_5'UTR NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 48 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGATCCCAGGATAGTGACAC 0.468000 5 109 0 0 1 0 0 ZNF589 51385 broad.mit.edu 37 3 48310141 48310141 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:48310141C>T ENST00000354698.3 + 4 1032 c.960C>T c.(958-960)atC>atT p.I320I ZNF589_ENST00000427617.2_Intron|ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron NM_016089.2 NP_057173.2 Q86UQ0 ZN589_HUMAN zinc finger protein 589 320 regulation of transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CATACCTCATCAGACATCAGA 0.507000 67 66 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32230022 32230022 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:32230022G>C ENST00000382142.3 - 16 2276 c.2106C>G c.(2104-2106)ctC>ctG p.L702L MTMR12_ENST00000264934.5_Silent_p.L592L|MTMR12_ENST00000280285.5_Silent_p.L648L NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 702 cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 ACAAAGACGAGAGGCGGGCAG 0.572000 107 83 0 0 1 0 0 STON1 11037 broad.mit.edu 37 2 48809463 48809463 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:48809463C>T ENST00000309835.3 + 1 1701 c.1691C>T c.(1690-1692)tCc>tTc p.S564F STON1_ENST00000404752.1_Missense_Mutation_p.S564F|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.S564F|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.S564F|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.S564F|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.S564F|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.S564F|STON1_ENST00000406226.1_Missense_Mutation_p.S564F stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TCCTTAAGGTCCTGTGACAAT 0.488000 26 76 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186147874 186147874 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:186147874G>A ENST00000271588.4 + 104 16499 c.16270G>A c.(16270-16272)Gag>Aag p.E5424K HMCN1_ENST00000367492.2_Intron NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5424 response to stimulus|visual perception basement membrane calcium ion binding p.E5424Q(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TGAAGGCTCTGAGGCAAGCCA 0.438000 66 83 0 0 1 0 0 RSBN1 54665 broad.mit.edu 37 1 114354874 114354874 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:114354874C>T ENST00000261441.5 - 1 224 c.161G>A c.(160-162)gGa>gAa p.G54E NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 54 nucleus breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGCACCGCTCCGACCTGCGC 0.682000 29 126 0 0 1 0 0 TMCO4 255104 broad.mit.edu 37 1 20107215 20107215 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:20107215G>A ENST00000294543.6 - 4 278 c.37C>T c.(37-39)Cag>Tag p.Q13* TMCO4_ENST00000375122.2_Nonsense_Mutation_p.Q13*|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.Q13* NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 13 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) AGAGGCTGCTGAGGCAGCCTC 0.607000 6 35 0 0 1 0 0 EHF 26298 broad.mit.edu 37 11 34680094 34680094 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:34680094C>T ENST00000257831.3 + 8 743 c.622C>T c.(622-624)Cac>Tac p.H208Y EHF_ENST00000531794.1_Missense_Mutation_p.H230Y|EHF_ENST00000530286.1_Missense_Mutation_p.H208Y|EHF_ENST00000533754.1_Missense_Mutation_p.H208Y|EHF_ENST00000450654.2_Missense_Mutation_p.H185Y NM_012153.5 NP_036285.2 Q9NZC4 EHF_HUMAN ets homologous factor 208 cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NFIA/EHF(2) autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1) 17 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) GAGAGGGACTCACTTATGGGA 0.463000 55 8 0 0 1 0 0 SOD2 6648 broad.mit.edu 37 6 160105983 160105983 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:160105983G>A ENST00000538183.2 - 4 586 c.426C>T c.(424-426)gtC>gtT p.V142V SOD2_ENST00000367054.2_Silent_p.V103V|SOD2_ENST00000337404.4_Silent_p.V103V|SOD2_ENST00000444946.2_Intron|SOD2_ENST00000546087.1_Silent_p.V96V|SOD2_ENST00000367055.4_Silent_p.V142V NM_000636.2 NP_000627.2 P04179 SODM_HUMAN superoxide dismutase 2, mitochondrial age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure manganese ion binding|superoxide dismutase activity p.V142V(1) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1) 14 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103) OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06) CTGAGCCTTGGACACCAACAG 0.458000 90 57 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71267619 71267619 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:71267619G>A ENST00000554752.2 - 2 584 c.585C>T c.(583-585)ttC>ttT p.F195F MAP3K9_ENST00000381250.4_Silent_p.F195F|MAP3K9_ENST00000555993.2_Silent_p.F195F NM_001284230.1 NP_001271159.1 P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 195 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity 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) TCAGCATGGCGAAGAGCTTGG 0.542000 70 18 0 0 1 0 0 TBCE 6905 broad.mit.edu 37 1 235577754 235577754 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:235577754G>A ENST00000543662.1 + 4 298 c.192G>A c.(190-192)ccG>ccA p.P64P TBCE_ENST00000366601.3_Silent_p.P64P|TBCE_ENST00000406207.1_Silent_p.P64P|TBCE_ENST00000472011.1_3'UTR Q15813 TBCE_HUMAN tubulin folding cofactor E 64 CAP-Gly. 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 14 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CCAGGCACCCGACAGGAGGAT 0.388000 56 49 0 0 1 0 0 IRF8 3394 broad.mit.edu 37 16 85946818 85946818 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:85946818T>C ENST00000268638.5 + 5 951 c.529T>C c.(529-531)Tgg>Cgg p.W177R NM_002163.2 NP_002154.1 Q02556 IRF8_HUMAN interferon regulatory factor 8 177 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 24 Prostate(104;0.0771) CCTTCCAGACTGGTGGGCGCA 0.622000 39 65 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155176718 155176718 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:155176718C>T ENST00000357232.4 - 21 5528 c.5529G>A c.(5527-5529)gtG>gtA p.V1843V NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TTGTTGTTATCACACCACTCA 0.463000 11 43 0 0 1 0 0 RABGGTA 5875 broad.mit.edu 37 14 24738856 24738856 + Translation_Start_Site SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:24738856C>T ENST00000560777.1 - 0 93 RABGGTA_ENST00000559586.1_5'UTR|RABGGTA_ENST00000399409.3_Missense_Mutation_p.V158M|RABGGTA_ENST00000216840.6_Missense_Mutation_p.V158M Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GCAGGGGGCACGGCTGCCTGT 0.582000 5 41 0 0 1 0 0 BARHL2 343472 broad.mit.edu 37 1 91182553 91182553 + Nonsense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:91182553G>C ENST00000370445.4 - 1 241 c.200C>G c.(199-201)tCa>tGa p.S67* NM_020063.1 NP_064447.1 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 67 nucleus sequence-specific DNA binding cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CATGGTGACTGAGATAGGAGA 0.662000 43 32 0 0 1 0 0 NECAB1 64168 broad.mit.edu 37 8 91893321 91893321 + Missense_Mutation SNP A A G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:91893321A>G ENST00000417640.2 + 5 657 c.320A>G c.(319-321)aAt>aGt p.N107S NECAB1_ENST00000521954.1_3'UTR NM_022351.4 NP_071746.1 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 107 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7) 12 BRCA - Breast invasive adenocarcinoma(11;0.0499) GAAGACCTGAATCTTTCCATC 0.294000 3 33 0 0 1 0 0 PSMC5 5705 broad.mit.edu 37 17 61908478 61908478 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:61908478C>T ENST00000310144.6 + 8 1070 c.762C>T c.(760-762)atC>atT p.I254I PSMC5_ENST00000580864.1_Silent_p.I246I|PSMC5_ENST00000581882.1_Silent_p.I246I|PSMC5_ENST00000375812.4_Silent_p.I246I NM_002805.5 NP_002796.4 P62195 PRS8_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 5 254 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 20 TCGACTCCATCGGCTCCTCGC 0.587000 48 78 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68536256 68536256 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:68536256C>T ENST00000322244.5 - 8 660 c.601G>A c.(601-603)Gat>Aat p.D201N UBA6_ENST00000420827.2_Missense_Mutation_p.D201N NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TCAAATTCATCACCGAAATCA 0.264000 22 71 0 0 1 0 0 UBE2S 27338 broad.mit.edu 37 19 55918225 55918225 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:55918225C>T ENST00000264552.9 - 2 296 c.109G>A c.(109-111)Gag>Aag p.E37K UBE2S_ENST00000589978.1_Missense_Mutation_p.E37K NM_014501.2 NP_055316.2 Q16763 UBE2S_HUMAN ubiquitin-conjugating enzyme E2S 37 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|exit from mitosis|free ubiquitin chain polymerization|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination anaphase-promoting complex ATP binding|ubiquitin-protein ligase activity lung(1) 1 Breast(117;0.155) LUSC - Lung squamous cell carcinoma(43;0.13)|BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.11) AGGTCCTCCTCGTTGGGAAAG 0.587000 55 37 0 0 1 0 0 DSC3 1825 broad.mit.edu 37 18 28581610 28581610 + Missense_Mutation SNP T T A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:28581610T>A ENST00000434452.1 - 14 2363 c.2209A>T c.(2209-2211)Aca>Tca p.T737S DSC3_ENST00000360428.4_Missense_Mutation_p.T737S NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 737 homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) GGTGCTTCTGTGTTTGATATA 0.313000 29 73 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920223 5920223 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:5920223G>C ENST00000399933.3 - 8 5772 c.5773C>G c.(5773-5775)Ctt>Gtt p.L1925V KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1895V NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1925 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) CCACTGTTAAGAACTAAGGGG 0.433000 39 70 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2374431 2374431 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:2374431G>A ENST00000301732.5 - 6 1121 c.421C>T c.(421-423)Cac>Tac p.H141Y ABCA3_ENST00000382381.3_Missense_Mutation_p.H141Y|ABCA3_ENST00000567910.1_Missense_Mutation_p.H141Y NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 141 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TCCTTGCTGTGGTTGAAGGGG 0.642000 4 8 0 0 1 0 0 RNF157 114804 broad.mit.edu 37 17 74161588 74161588 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:74161588C>G ENST00000269391.6 - 7 799 c.667G>C c.(667-669)Gag>Cag p.E223Q RNF157_ENST00000319945.6_Missense_Mutation_p.E223Q NM_052916.2 NP_443148.1 Q96PX1 RN157_HUMAN ring finger protein 157 223 zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 25 LUSC - Lung squamous cell carcinoma(166;0.187) CTCACCTTCTCAAAAGTACCC 0.483000 15 173 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27597298 27597298 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:27597298G>C ENST00000233575.2 + 7 831 c.609G>C c.(607-609)aaG>aaC p.K203N SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000537606.1_Missense_Mutation_p.K178N|SNX17_ENST00000543024.1_5'UTR NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 203 Ras-associating. cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGCTAAGGAAGAGGTCAGGGC 0.493000 5 47 0 0 1 0 0 KLK7 5650 broad.mit.edu 37 19 51483506 51483506 + Silent SNP C C T rs141002495 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:51483506C>T ENST00000391807.1 - 4 560 c.459G>A c.(457-459)acG>acA p.T153T CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000597707.1_Silent_p.T81T|KLK7_ENST00000595820.1_Silent_p.T153T|KLK7_ENST00000336317.4_Silent_p.T40T NM_139277.2 NP_644806.1 P49862 KLK7_HUMAN kallikrein-related peptidase 7 153 Peptidase S1. epidermis development|proteolysis extracellular region serine-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895) CATCTGGGCTCGTGGTAGTGC 0.667000 15 24 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40161851 40161851 + Missense_Mutation SNP C C G rs75576471 by1000genomes TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:40161851C>G ENST00000373233.3 - 3 569 c.392G>C c.(391-393)aGa>aCa p.R131T CHD6_ENST00000309279.7_Missense_Mutation_p.R131T|CHD6_ENST00000373222.3_Missense_Mutation_p.R166T NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 131 Lys-rich. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) CTTGGCCTTTCTGGGTTCCTT 0.572000 5 784 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912675 77912675 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:77912675G>A ENST00000321110.1 - 2 1538 c.1243C>T c.(1243-1245)Cca>Tca p.P415S NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 415 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 TCAGCTGGTGGACTCTCGGGT 0.522000 5 70 0 0 1 0 0 XG 7499 broad.mit.edu 37 X 2670374 2670374 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:2670374G>A ENST00000426774.1 + 1 282 c.59G>A c.(58-60)cGa>cAa p.R20Q XG_ENST00000381174.5_Missense_Mutation_p.R20Q|XG_ENST00000419513.2_Missense_Mutation_p.R20Q NM_001141920.1|NM_175569.2 NP_001135392.1|NP_780778.1 P55808 XG_HUMAN Xg blood group 20 integral to membrane|plasma membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) ATGCACGCCCGAGGTAAGAGG 0.483000 6 159 0 0 1 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999090 27999090 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:27999090G>T ENST00000441525.1 - 1 476 c.362C>A c.(361-363)cCa>cAa p.P121Q NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 121 NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 ACCGCATCGTGGACACATCCG 0.542000 36 1 1.836e-18 1.96488e-18 1 1 0 CLEC7A 64581 broad.mit.edu 37 12 10280346 10280346 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:10280346C>G ENST00000525605.1 - 3 271 c.202G>C c.(202-204)Ggt>Cgt p.G68R CLEC7A_ENST00000310002.4_Splice_Site_p.A68P|CLEC7A_ENST00000353231.5_Splice_Site_p.G68R|CLEC7A_ENST00000298523.5_Splice_Site_p.G68R|CLEC7A_ENST00000304084.8_Splice_Site_p.A68P|CLEC7A_ENST00000533022.1_Splice_Site_p.A68P|CLEC7A_ENST00000396484.2_Intron Q9BXN2 CLC7A_HUMAN C-type lectin domain family 7, member A 0 carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation cytoplasm|integral to membrane metal ion binding|MHC protein binding|sugar binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 AAATACTCACCCATGGTACCC 0.433000 3 8 0 0 1 0 0 BAZ2A 11176 broad.mit.edu 37 12 57007800 57007800 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:57007800G>A ENST00000179765.5 - 5 962 c.763C>T c.(763-765)Caa>Taa p.Q255* BAZ2A_ENST00000379441.3_Nonsense_Mutation_p.Q257*|BAZ2A_ENST00000549884.1_Nonsense_Mutation_p.Q285*|BAZ2A_ENST00000551812.1_Nonsense_Mutation_p.Q287* Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 287 chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TCTTCCAGTTGATCAGGAAGA 0.502000 32 26 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67145429 67145429 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:67145429G>C ENST00000371037.4 + 14 885 c.808G>C c.(808-810)Gga>Cga p.G270R SGIP1_ENST00000237247.6_Missense_Mutation_p.G274R|SGIP1_ENST00000371039.1_Missense_Mutation_p.G238R|SGIP1_ENST00000371035.3_Missense_Mutation_p.G227R|SGIP1_ENST00000371036.3_Missense_Mutation_p.G237R NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 270 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CTTAACAATTGGACCAGGTAC 0.468000 28 57 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15489994 15489994 + Nonsense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr9:15489994G>C ENST00000380733.4 - 4 621 c.278C>G c.(277-279)tCa>tGa p.S93* PSIP1_ENST00000380715.1_Nonsense_Mutation_p.S93*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.S93*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.S93*|PSIP1_ENST00000380716.4_Nonsense_Mutation_p.S93* O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 93 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) CTGTTGACTTGAAAATTTCAC 0.299000 10 1 0 0 1 0 0 TEKT1 83659 broad.mit.edu 37 17 6722592 6722592 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:6722592G>A ENST00000338694.2 - 3 405 c.276C>T c.(274-276)ctC>ctT p.L92L TEKT1_ENST00000535086.1_Intron NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 92 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) TCTTATATATGAGTAGATCAT 0.473000 40 7 0 0 1 0 0 HCCS 3052 broad.mit.edu 37 X 11135429 11135429 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:11135429G>T ENST00000321143.4 + 4 497 c.295G>T c.(295-297)Gca>Tca p.A99S HCCS_ENST00000380762.4_Missense_Mutation_p.A99S|HCCS_ENST00000380763.3_Missense_Mutation_p.A99S NM_001122608.2|NM_001171991.2|NM_005333.4 NP_001116080.1|NP_001165462.1|NP_005324.3 P53701 CCHL_HUMAN holocytochrome c synthase 99 organ morphogenesis|oxidation-reduction process mitochondrial inner membrane holocytochrome-c synthase activity|metal ion binding kidney(1)|large_intestine(3)|lung(3) 7 TCAGCCATTTGCATTGTCTAC 0.373000 55 70 1.93748e-29 2.10252e-29 1 1 0 TRIM11 81559 broad.mit.edu 37 1 228594194 228594194 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:228594194G>A ENST00000284551.6 - 1 347 c.69C>T c.(67-69)ttC>ttT p.F23F TRIM11_ENST00000366699.3_Silent_p.F23F NM_145214.2 NP_660215.1 Q96F44 TRI11_HUMAN tripartite motif containing 11 23 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) CCGGATCCGTGAAGTAGTCGA 0.697000 14 24 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144859897 144859897 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:144859897G>A ENST00000369359.4 - 41 6633 c.6595C>T c.(6595-6597)Cag>Tag p.Q2199* PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.Q2148*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.Q2063*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.Q1957*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.Q2063*|RP4-791M13.4_ENST00000532137.1_RNA Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2063 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGTTCCCCTGAATGCTCTGC 0.582000 T PDGFRB MPD 36 100 0 0 1 0 0 PFDN6 10471 broad.mit.edu 37 6 33258577 33258577 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:33258577C>G ENST00000395131.1 + 5 751 c.345C>G c.(343-345)ttC>ttG p.F115L PFDN6_ENST00000374610.2_Missense_Mutation_p.F115L|PFDN6_ENST00000374607.1_Missense_Mutation_p.F115L|PFDN6_ENST00000463584.1_Intron|PFDN6_ENST00000374606.5_Missense_Mutation_p.F115L O15212 PFD6_HUMAN prefoldin subunit 6 115 'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly prefoldin complex chaperone binding|unfolded protein binding kidney(1)|large_intestine(1) 2 AGCAGGAGTTCCAGCGGGCCC 0.622000 8 22 0 0 1 0 0 JSRP1 126306 broad.mit.edu 37 19 2252961 2252961 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:2252961C>G ENST00000300961.6 - 6 542 c.478G>C c.(478-480)Gag>Cag p.E160Q JSRP1_ENST00000586471.2_Missense_Mutation_p.E160Q NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 Pro-rich. sarcoplasmic reticulum membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCAGGGCTCGGGCACACGT 0.682000 12 10 0 0 1 0 0 MZF1 7593 broad.mit.edu 37 19 59074422 59074422 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:59074422C>A ENST00000215057.2 - 6 1782 c.1222G>T c.(1222-1224)Gag>Tag p.E408* AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Nonsense_Mutation_p.E408*|AC016629.8_ENST00000600726.1_RNA NM_001267033.1|NM_198055.1 NP_001253962.1|NP_932172.1 P28698 MZF1_HUMAN myeloid zinc finger 1 408 viral reproduction nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182) GGCCGCTCCTCGGTGTGCGTA 0.677000 17 7 5.3912e-06 5.5524e-06 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72992974 72992974 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:72992974G>C ENST00000268489.5 - 2 1743 c.1071C>G c.(1069-1071)ctC>ctG p.L357L ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 357 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CGGGGCCTATGAGGTTAGCTG 0.507000 46 64 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927735 55927735 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:55927735C>A ENST00000313447.1 - 1 58 c.59G>T c.(58-60)cGg>cTg p.R20L NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R20P(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) CAGCTCAGGCCGCCTTGTGAG 0.443000 60 82 1.84395e-34 2.01513e-34 1 1 0 ZBTB22 9278 broad.mit.edu 37 6 33284441 33284441 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:33284441G>C ENST00000431845.2 - 2 404 c.253C>G c.(253-255)Cag>Gag p.Q85E ZBTB22_ENST00000418724.1_Missense_Mutation_p.Q85E NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 85 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 AGTAGGACCTGATCATGGAAG 0.607000 28 113 0 0 1 0 0 C22orf29 79680 broad.mit.edu 37 22 19839434 19839434 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:19839434G>A ENST00000405640.1 - 2 1019 c.351C>T c.(349-351)ttC>ttT p.F117F C22orf29_ENST00000407472.1_Silent_p.F117F|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Silent_p.F117F|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 117 NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) GCTGGGCCAAGAAGCGGTCCA 0.617000 36 66 0 0 1 0 0 TP53INP1 94241 broad.mit.edu 37 8 95952410 95952410 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:95952410C>G ENST00000342697.4 - 3 558 c.151G>C c.(151-153)Gag>Cag p.E51Q TP53INP1_ENST00000448464.2_Missense_Mutation_p.E51Q|TP53INP1_ENST00000378776.4_Missense_Mutation_p.E51Q|NDUFAF6_ENST00000396113.1_Intron NM_033285.3 NP_150601.1 Q96A56 T53I1_HUMAN tumor protein p53 inducible nuclear protein 1 51 Glu-rich. apoptosis PML body kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 9 Breast(36;8.75e-07) ATGTCCTCCTCTTCTTCTTCT 0.463000 51 40 0 0 1 0 0 NPY1R 4886 broad.mit.edu 37 4 164246739 164246739 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:164246739G>A ENST00000296533.2 - 3 1402 c.871C>T c.(871-873)Cag>Tag p.Q291* NPY1R_ENST00000509586.1_Nonsense_Mutation_p.Q48* NM_000909.5 NP_000900.1 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 291 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) GCAATGATCTGATGATTCCAA 0.428000 17 54 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57573702 57573702 + Missense_Mutation SNP G G C rs141183147 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:57573702G>C ENST00000243077.3 + 30 5570 c.5104G>C c.(5104-5106)Gag>Cag p.E1702Q NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1702 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GCAGGGCCTGGAGCAGCCCCA 0.617000 31 99 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104511087 104511087 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:104511087C>T ENST00000304883.2 - 5 1290 c.1150G>A c.(1150-1152)Gag>Aag p.E384K RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 384 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AGCTCTAGCTCATCATAGCTG 0.468000 53 63 0 0 1 0 0 LTB 4050 broad.mit.edu 37 6 31550142 31550142 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:31550142G>A ENST00000429299.2 - 1 60 c.53C>T c.(52-54)tCc>tTc p.S18F LTB_ENST00000483972.1_Intron|LTB_ENST00000446745.2_Missense_Mutation_p.S18F NM_002341.1 NP_002332.1 Q06643 TNFC_HUMAN lymphotoxin beta (TNF superfamily, member 3) 18 cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 9 Infliximab(DB00065)|Simvastatin(DB00641) TAGCAGGAGGGAACCCCTCCC 0.637000 14 37 0 0 1 0 0 CLVS2 134829 broad.mit.edu 37 6 123319061 123319061 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:123319061C>G ENST00000275162.5 + 2 1474 c.139C>G c.(139-141)Ctg>Gtg p.L47V CLVS2_ENST00000368438.1_Intron NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 CATTGGCTTTCTGCGCACGGA 0.557000 48 39 0 0 1 0 0 LILRA5 353514 broad.mit.edu 37 19 54822982 54822982 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:54822982G>C ENST00000301219.3 - 5 533 c.414C>G c.(412-414)ttC>ttG p.F138L LILRA5_ENST00000446712.3_Missense_Mutation_p.F126L|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.F138L|LILRA5_ENST00000346508.3_Missense_Mutation_p.F126L NM_021250.2 NP_067073.1 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 138 innate immune response extracellular region|integral to membrane receptor activity breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 20 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTTTGTTGTAGAATCCTAGGA 0.592000 53 46 0 0 1 0 0 RLF 6018 broad.mit.edu 37 1 40703673 40703673 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:40703673C>T ENST00000372771.4 + 8 3326 c.3299C>T c.(3298-3300)tCa>tTa p.S1100L NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1100 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CAGTCAGTTTCATCTATCTCA 0.418000 137 63 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 57 0 0 1 0 0 RUFY1 80230 broad.mit.edu 37 5 178996330 178996330 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:178996330G>A ENST00000377001.2 + 5 732 c.732G>A c.(730-732)atG>atA p.M244I RUFY1_ENST00000319449.4_Missense_Mutation_p.M244I|RUFY1_ENST00000393438.2_Missense_Mutation_p.M136I|RUFY1_ENST00000437570.2_Missense_Mutation_p.M136I Q96T51 RUFY1_HUMAN RUN and FYVE domain containing 1 244 RUN. endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGGCTTTAATGATGGAGGAAG 0.502000 HNSCC(44;0.11) 5 145 0 0 1 0 0 NID2 22795 broad.mit.edu 37 14 52526909 52526909 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:52526909C>T ENST00000216286.5 - 3 699 c.700G>A c.(700-702)Gat>Aat p.D234N NID2_ENST00000541773.1_Missense_Mutation_p.D181N NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 234 NIDO. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) GACTTCAGATCATCAGCCTCC 0.498000 27 6 0 0 1 0 0 EPO 2056 broad.mit.edu 37 7 100320699 100320699 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:100320699C>T ENST00000252723.2 + 5 706 c.525C>T c.(523-525)ttC>ttT p.F175F NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 175 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) ACTCCAATTTCCTCCGGGGAA 0.572000 94 191 0 0 1 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135112 32135112 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:32135112C>T ENST00000312561.4 + 4 1637 c.1223C>T c.(1222-1224)tCa>tTa p.S408L KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639 KIAA1551 CAGAAGTTTTCAGAACTTGCA 0.318000 8 154 0 0 1 0 0 RBKS 64080 broad.mit.edu 37 2 28081412 28081412 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:28081412C>T ENST00000302188.3 - 2 868 c.116G>A c.(115-117)gGa>gAa p.G39E RBKS_ENST00000444339.2_Missense_Mutation_p.G39E NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 39 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) GATGGTTTCTCCAGTTTTTGG 0.398000 18 21 0 0 1 0 0 RHOU 58480 broad.mit.edu 37 1 228879189 228879189 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:228879189G>C ENST00000366691.3 + 3 1145 c.479G>C c.(478-480)gGa>gCa p.G160A NM_021205.5 NP_067028.1 Q7L0Q8 RHOU_HUMAN ras homolog family member U 160 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 13 Breast(184;0.162) Prostate(94;0.183) ATCCTAGTTGGAACGCAGTCG 0.532000 8 157 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91666179 91666179 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:91666179C>G ENST00000518868.1 + 14 2064 c.1374C>G c.(1372-1374)atC>atG p.I458M C14orf159_ENST00000522322.1_Missense_Mutation_p.I453M|C14orf159_ENST00000523816.1_Missense_Mutation_p.I453M|C14orf159_ENST00000523771.1_Missense_Mutation_p.I453M|C14orf159_ENST00000412671.2_Missense_Mutation_p.I458M|C14orf159_ENST00000256324.10_Missense_Mutation_p.I458M|C14orf159_ENST00000525393.2_Missense_Mutation_p.I329M|C14orf159_ENST00000521077.2_Missense_Mutation_p.I458M|C14orf159_ENST00000428926.2_Missense_Mutation_p.I453M|C14orf159_ENST00000520328.1_Missense_Mutation_p.I441M Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 453 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) AGATGAACATCAAGCACTTGG 0.488000 8 90 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42877892 42877892 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:42877892C>T ENST00000025301.2 + 8 5185 c.5010C>T c.(5008-5010)agC>agT p.S1670S NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1670 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) GCAGTACCAGCCTGGCAGCCG 0.512000 29 19 0 0 1 0 0 DROSHA 29102 broad.mit.edu 37 5 31526614 31526614 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:31526614G>A ENST00000511367.2 - 4 670 c.426C>T c.(424-426)ttC>ttT p.F142F DROSHA_ENST00000442743.1_Silent_p.F142F|DROSHA_ENST00000344624.3_Silent_p.F142F|DROSHA_ENST00000513349.1_Silent_p.F142F NM_013235.4 NP_037367.3 Q9NRR4 RNC_HUMAN drosha, ribonuclease type III 142 Pro-rich. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 TCATGAAGGGGAAAGTGCCTT 0.587000 11 37 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61539167 61539167 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:61539167C>T ENST00000278836.5 + 6 1032 c.936C>T c.(934-936)ctC>ctT p.L312L MYRF_ENST00000265460.5_Silent_p.L303L|TMEM258_ENST00000535042.1_Intron NM_001127392.1 NP_001120864.1 myelin regulatory factor CCTTGCCTCTCAGCATTGCCC 0.692000 103 94 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10260222 10260222 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:10260222G>C ENST00000340748.4 - 25 2680 c.2445C>G c.(2443-2445)ttC>ttG p.F815L DNMT1_ENST00000540357.1_Missense_Mutation_p.F815L|DNMT1_ENST00000359526.4_Missense_Mutation_p.F831L P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 815 BAH 1. chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CATCCACCAAGAACAGCTCCA 0.557000 44 735 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6184104 6184104 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:6184104C>T ENST00000262450.3 - 31 4702 c.4603G>A c.(4603-4605)Gag>Aag p.E1535K CHD5_ENST00000378021.1_Missense_Mutation_p.E392K NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1535 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) TTCTTCCCCTCGGGCCCCTCA 0.652000 15 29 0 0 1 0 0 SEMA3E 9723 broad.mit.edu 37 7 82996925 82996925 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:82996925G>A ENST00000307792.3 - 17 2772 c.2305C>T c.(2305-2307)Ccc>Tcc p.P769S SEMA3E_ENST00000427262.1_Missense_Mutation_p.P709S NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 769 Arg/Lys-rich (basic). axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) GTGTGCCTGGGCAGGCGGTAA 0.413000 98 98 0 0 1 0 0 FABP12 646486 broad.mit.edu 37 8 82437306 82437306 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:82437306G>A ENST00000360464.4 - 4 460 c.398C>T c.(397-399)tCa>tTa p.S133L RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA NM_001105281.1 NP_001098751.1 A6NFH5 FBP12_HUMAN fatty acid binding protein 12 133 lipid binding|transporter activity p.S133*(1) large_intestine(1)|lung(3) 4 TGAGTTTGATGATACTTTCTC 0.323000 5 17 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89391064 89391064 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:89391064G>T ENST00000336596.2 + 5 1355 c.1130G>T c.(1129-1131)aGc>aTc p.S377I EPHA3_ENST00000494014.1_Missense_Mutation_p.S377I|EPHA3_ENST00000452448.2_Missense_Mutation_p.S377I NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 377 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GAGCCATGCAGCCCAAATGTC 0.483000 TSP Lung(6;0.00050) 11 78 4.3838e-07 4.55523e-07 1 1 0 PARP9 83666 broad.mit.edu 37 3 122274520 122274520 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:122274520C>G ENST00000462315.1 - 4 791 c.498G>C c.(496-498)tgG>tgC p.W166C PARP9_ENST00000477522.2_Missense_Mutation_p.W166C|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000471785.1_Missense_Mutation_p.W166C|PARP9_ENST00000360356.2_Missense_Mutation_p.W201C NM_001146106.1 NP_001139578.1 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 201 Macro 1. cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3) 34 GBM - Glioblastoma multiforme(114;0.0519) CCCATTCCATCCACCGAGGCC 0.458000 25 24 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35692776 35692776 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:35692776G>A ENST00000440995.2 + 12 1849 c.1849G>A c.(1849-1851)Gat>Aat p.D617N CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.D617N|SPEF2_ENST00000509059.1_Missense_Mutation_p.D617N Q9C093 SPEF2_HUMAN sperm flagellar 2 617 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCAGAAAAATGATGAAGAAGA 0.383000 8 153 0 0 1 0 0 TAC3 6866 broad.mit.edu 37 12 57407417 57407417 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:57407417G>C ENST00000458521.2 - 3 312 c.153C>G c.(151-153)ttC>ttG p.F51L TAC3_ENST00000415231.1_Missense_Mutation_p.F51L|TAC3_ENST00000441881.1_Missense_Mutation_p.F51L NM_013251.3 NP_037383.1 Q9UHF0 TKNK_HUMAN tachykinin 3 51 female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway extracellular space|soluble fraction receptor binding cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 7 AGTGGCTTTTGAAGAGTCTCT 0.572000 8 21 0 0 1 0 0 ITGA6 3655 broad.mit.edu 37 2 173339838 173339838 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:173339838G>C ENST00000375221.2 + 8 1488 c.1285G>C c.(1285-1287)Gat>Cat p.D429H ITGA6_ENST00000264106.6_Missense_Mutation_p.D429H|ITGA6_ENST00000343713.4_Missense_Mutation_p.D385H|ITGA6_ENST00000409532.1_Missense_Mutation_p.D271H|ITGA6_ENST00000409080.1_Missense_Mutation_p.D390H|ITGA6_ENST00000264107.7_Missense_Mutation_p.D390H P23229 ITA6_HUMAN integrin, alpha 6 429 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) TATTAATCAAGATGGCTACCC 0.373000 3 40 0 0 1 0 0 STAT3 6774 broad.mit.edu 37 17 40476996 40476996 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:40476996C>T ENST00000264657.5 - 16 1761 c.1449G>A c.(1447-1449)ctG>ctA p.L483L STAT3_ENST00000389272.3_Silent_p.L385L|STAT3_ENST00000588969.1_Silent_p.L483L|STAT3_ENST00000404395.3_Silent_p.L483L|STAT3_ENST00000585517.1_Silent_p.L483L 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) 483 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) GATTGTTGGTCAGCATGTTGT 0.547000 Hyperimmunoglobulin E Recurrent Infection Syndrome 7 144 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173503793 173503793 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:173503793G>C ENST00000367714.3 - 16 2226 c.1804C>G c.(1804-1806)Cac>Gac p.H602D SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Intron NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 602 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity AATACTATGTGAAATATAAAA 0.264000 3 25 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8212240 8212240 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:8212240G>A ENST00000307637.4 - 2 745 c.542C>T c.(541-543)tCa>tTa p.S181L NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 181 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) ATAATCTAATGAGCTGGAGAG 0.423000 33 85 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21854861 21854861 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:21854861C>T ENST00000382254.1 - 7 1651 c.565G>A c.(565-567)Gac>Aac p.D189N CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D189N|CDH12_ENST00000522262.1_Intron NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 189 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 TAGGTCGGGTCATCTGCATCT 0.403000 HNSCC(59;0.17) 56 18 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814011 123814011 + Missense_Mutation SNP G G A rs140103246 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:123814011G>A ENST00000321252.2 - 1 569 c.535C>T c.(535-537)Cgt>Tgt p.R179C NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R179C(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CAACTGTCACGAAAGAAGTGG 0.572000 37 34 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108160394 108160394 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:108160394G>A ENST00000278616.4 + 29 4687 c.4302G>A c.(4300-4302)aaG>aaA p.K1434K ATM_ENST00000452508.2_Silent_p.K1434K NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 1434 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATGTTTATAAGAAGCACAGAA 0.323000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 20 1 0 0 1 0 0 PRRG2 5639 broad.mit.edu 37 19 50086859 50086859 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:50086859G>C ENST00000246794.5 + 3 315 c.146G>C c.(145-147)aGa>aCa p.R49T PRRG2_ENST00000596700.1_Intron NM_000951.2 NP_000942.1 O14669 TMG2_HUMAN proline rich Gla (G-carboxyglutamic acid) 2 49 extracellular region|integral to plasma membrane calcium ion binding lung(1)|skin(1)|soft_tissue(1) 3 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121) CGGATTCCAAGAGCCAACCAC 0.572000 104 74 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123068856 123068856 + Missense_Mutation SNP A A T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:123068856A>T ENST00000333479.7 + 35 3472 c.3295A>T c.(3295-3297)Act>Tct p.T1099S KNTC1_ENST00000450485.2_Intron NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1099 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) CAATGCTGACACTGGGAAATT 0.418000 51 56 0 0 1 0 0 GPR31 2853 broad.mit.edu 37 6 167570376 167570376 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:167570376C>G ENST00000366834.1 - 1 1441 c.944G>C c.(943-945)aGa>aCa p.R315T NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 315 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) ATAGGAGTCTCTGGGGTTGAA 0.537000 38 27 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102337230 102337230 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:102337230G>C ENST00000395065.3 - 9 944 c.843C>G c.(841-843)gaC>gaG p.D281E NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.D192E NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 281 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTGGGCTTCTGTCCGCACACT 0.532000 21 137 0 0 1 0 0 ALPI 248 broad.mit.edu 37 2 233321156 233321156 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:233321156C>T ENST00000295463.3 + 2 242 c.165C>T c.(163-165)ctC>ctT p.L55L NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 55 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCAAGAACCTCATCCTCTTCC 0.637000 21 24 0 0 1 0 0 NR2F1 7025 broad.mit.edu 37 5 92923969 92923969 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:92923969G>A ENST00000327111.3 + 2 2497 c.810G>A c.(808-810)ccG>ccA p.P270P NM_005654.4 NP_005645.1 P10589 COT1_HUMAN nuclear receptor subfamily 2, group F, member 1 270 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 21 all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18) GCTCTATGCCGCTGCACGTGG 0.667000 48 33 0 0 1 0 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652303 45652303 + RNA SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:45652303G>A ENST00000427229.2 + 0 1817 AAGCTTGGTGGAAAAACCACC 0.483000 17 19 0 0 1 0 0 NCOA7 135112 broad.mit.edu 37 6 126242143 126242143 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:126242143G>C ENST00000368357.3 + 13 2651 c.2299G>C c.(2299-2301)Gac>Cac p.D767H NCOA7_ENST00000229634.9_Missense_Mutation_p.D652H|NCOA7_ENST00000392477.2_Missense_Mutation_p.D767H NM_001199619.1|NM_001199620.1 NP_001186548.1|NP_001186549.1 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 767 cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2) 39 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) CTACTATGAAGACGAGGACGA 0.527000 27 23 0 0 1 0 0 PLSCR2 57047 broad.mit.edu 37 3 146173116 146173116 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:146173116C>G ENST00000497985.1 - 6 889 c.450G>C c.(448-450)ttG>ttC p.L150F PLSCR2_ENST00000336685.2_Missense_Mutation_p.L77F NM_001199978.1 NP_001186907.1 Q9NRY7 PLS2_HUMAN phospholipid scramblase 2 77 phospholipid scrambling integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity endometrium(2)|large_intestine(5)|lung(7)|stomach(1) 15 CAGTAATCCTCAAGGTAAAAG 0.433000 72 51 0 0 1 0 0 ASIC4 55515 broad.mit.edu 37 2 220379882 220379882 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:220379882G>C ENST00000358078.4 + 1 831 c.817G>C c.(817-819)Gac>Cac p.D273H AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Missense_Mutation_p.D273H Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 273 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity GCCCCCCAAAGACCGGGATGG 0.627000 12 21 0 0 1 0 0 PLOD1 5351 broad.mit.edu 37 1 12027132 12027132 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:12027132C>G ENST00000196061.4 + 16 1766 c.1739C>G c.(1738-1740)tCt>tGt p.S580C PLOD1_ENST00000376369.3_Missense_Mutation_p.S627C NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 580 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GGCCAGTGGTCTCTGGGCAAC 0.632000 4 97 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40571073 40571073 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr21:40571073C>T ENST00000342449.3 - 40 5347 c.5269G>A c.(5269-5271)Gag>Aag p.E1757K BRWD1_ENST00000333229.2_Missense_Mutation_p.E1757K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1757K NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1757 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) GAGTCTTCCTCAGAAGACTCT 0.428000 32 82 0 0 1 0 0 AQP4 361 broad.mit.edu 37 18 24436295 24436295 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:24436295C>G ENST00000383168.4 - 5 980 c.852G>C c.(850-852)agG>agC p.R284S AQP4_ENST00000440832.3_Missense_Mutation_p.R262S|AQP4_ENST00000581374.1_Missense_Mutation_p.R262S|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000582605.1_RNA NM_001650.4|NM_004028.3 NP_001641.1|NP_004019.1 P55087 AQP4_HUMAN aquaporin 4 284 cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity kidney(2)|large_intestine(3)|lung(5)|skin(1) 11 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) CTACCTGACTCCTGTTGTCCT 0.483000 5 279 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 871107 871107 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:871107C>G ENST00000316157.3 - 12 1422 c.1382G>C c.(1381-1383)aGa>aCa p.R461T NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 461 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 AATCCGTGTTCTAGTTTGACC 0.493000 5 147 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26575295 26575295 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:26575295C>A ENST00000376261.3 + 13 1761 c.1258C>A c.(1258-1260)Caa>Aaa p.Q420K GAD2_ENST00000259271.3_Missense_Mutation_p.Q420K NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 420 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) GAATTGCAACCAAATGCATGC 0.368000 13 72 0.000151284 0.000153597 1 1 0 RBBP7 5931 broad.mit.edu 37 X 16887338 16887338 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:16887338C>G ENST00000380087.2 - 2 382 c.22G>C c.(22-24)Gaa>Caa p.E8Q RBBP7_ENST00000404022.1_Missense_Mutation_p.E8Q|RBBP7_ENST00000380084.4_Missense_Mutation_p.E52Q Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 8 cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 25 Hepatocellular(33;0.0997) ACAGTATCTTCAAACACTGAA 0.423000 4 57 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534508 16534508 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:16534508G>C ENST00000270747.3 - 3 761 c.625C>G c.(625-627)Ctg>Gtg p.L209V NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 209 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CCCAGGCGCAGAGAAGAGTGC 0.672000 18 41 0 0 1 0 0 GPRC6A 222545 broad.mit.edu 37 6 117114160 117114160 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:117114160G>C ENST00000310357.3 - 6 1947 c.1926C>G c.(1924-1926)ctC>ctG p.L642L GPRC6A_ENST00000530250.1_Silent_p.L467L|GPRC6A_ENST00000368549.3_Silent_p.L571L NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 642 response to amino acid stimulus G-protein coupled receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGGCAAAATTGAGGAAATGAC 0.418000 49 37 0 0 1 0 0 ZSCAN29 146050 broad.mit.edu 37 15 43656116 43656116 + Missense_Mutation SNP G G A rs143986040 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:43656116G>A ENST00000396976.2 - 4 1821 c.1687C>T c.(1687-1689)Cgt>Tgt p.R563C ZSCAN29_ENST00000562072.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000396972.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 563 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) ATCTTACCACGGGGGCTTTGG 0.448000 13 42 0 0 1 0 0 LOC101929066 101929066 broad.mit.edu 37 8 17944618 17944618 + RNA SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:17944618C>G ENST00000499554.2 + 0 455 CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000517798.1_RNA TAAATTCCATCACATTACCAC 0.363000 16 4 0 0 1 0 0 ZNF165 7718 broad.mit.edu 37 6 28053307 28053307 + Nonsense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:28053307G>T ENST00000377325.1 + 2 605 c.49G>T c.(49-51)Gaa>Taa p.E17* NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 17 viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TCCAGAGGATGAAGGACTTCT 0.438000 107 67 1.54263e-40 1.69179e-40 1 1 0 C1orf35 79169 broad.mit.edu 37 1 228288845 228288845 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:228288845C>A ENST00000272139.4 - 8 1013 c.779G>T c.(778-780)gGc>gTc p.G260V C1orf35_ENST00000472617.1_5'UTR NM_024319.2 NP_077295.1 Q9BU76 MMTA2_HUMAN chromosome 1 open reading frame 35 260 large_intestine(1)|lung(1)|skin(1) 3 Prostate(94;0.0488) GGCCTCAGAGCCTCTGTCATG 0.627000 40 61 1.7489e-18 1.87383e-18 1 1 0 CDH4 1002 broad.mit.edu 37 20 60508098 60508098 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:60508098G>A ENST00000360469.5 + 14 2383 c.2295G>A c.(2293-2295)acG>acA p.T765T CDH4_ENST00000543233.1_Silent_p.T691T NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 765 adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AGCGCCACACGAAGCAGCTGC 0.642000 32 72 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79399178 79399178 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:79399178G>C ENST00000264895.6 + 55 8501 c.8061G>C c.(8059-8061)gaG>gaC p.E2687D NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2682 Calx-beta 2. 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 GGGTTAACGAGAGCGCTGGTT 0.418000 7 7 0 0 1 0 0 ZNF70 7621 broad.mit.edu 37 22 24087187 24087187 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:24087187G>C ENST00000341976.3 - 2 601 c.141C>G c.(139-141)atC>atG p.I47M NM_021916.2 NP_068735.1 Q9UC06 ZNF70_HUMAN zinc finger protein 70 47 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 21 TCTCCTTGTAGATCACAGCCA 0.488000 7 111 0 0 1 0 0 NUDT22 84304 broad.mit.edu 37 11 63994361 63994361 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:63994361C>A ENST00000279206.3 + 2 393 c.237C>A c.(235-237)ctC>ctA p.L79L NUDT22_ENST00000441250.2_Silent_p.L79L NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 79 hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 CACAGCTGCTCCTGCGCCTGG 0.662000 44 82 1.7489e-18 1.87383e-18 1 1 0 CDH7 1005 broad.mit.edu 37 18 63525149 63525149 + Missense_Mutation SNP A A G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:63525149A>G ENST00000536984.2 + 8 2027 c.1333A>G c.(1333-1335)Aat>Gat p.N445D CDH7_ENST00000323011.3_Missense_Mutation_p.N445D|CDH7_ENST00000397968.2_Missense_Mutation_p.N445D Q9ULB5 CADH7_HUMAN cadherin 7, type 2 445 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) TCGAGAGACAAATGCTATTCA 0.418000 25 59 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93558004 93558004 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:93558004C>G ENST00000394196.4 + 37 5839 c.4771C>G c.(4771-4773)Ctg>Gtg p.L1591V CHD2_ENST00000557381.1_Missense_Mutation_p.L1591V NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1591 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CCGGGACTCTCTGATATCTCA 0.507000 5 166 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116417887 116417887 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:116417887C>T ENST00000277895.5 - 1 170 c.73G>A c.(73-75)Gag>Aag p.E25K ABLIM1_ENST00000533213.2_Intron|ABLIM1_ENST00000369252.4_Intron NM_002313.5 NP_002304.3 O14639 ABLM1_HUMAN actin binding LIM protein 1 25 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding p.E25K(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CTGGTTCTCTCAGATGAGGTG 0.517000 80 110 0 0 1 0 0 GPBAR1 151306 broad.mit.edu 37 2 219127966 219127966 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:219127966C>A ENST00000522678.1 + 2 1387 c.519C>A c.(517-519)ctC>ctA p.L173L GPBAR1_ENST00000521462.1_Silent_p.L173L|GPBAR1_ENST00000479077.1_Silent_p.L173L|GPBAR1_ENST00000519574.1_Silent_p.L173L NM_001077191.1 NP_001070659.1 Q8TDU6 GPBAR_HUMAN G protein-coupled bile acid receptor 1 173 integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(1)|ovary(1) 4 Renal(207;0.0474) Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCTATGGGCTCCTGCTGCCCG 0.672000 26 23 2.24059e-21 2.41175e-21 1 1 0 ELAVL4 1996 broad.mit.edu 37 1 50666550 50666550 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:50666550G>C ENST00000371824.1 + 7 1058 c.801G>C c.(799-801)atG>atC p.M267I ELAVL4_ENST00000371827.1_Missense_Mutation_p.M267I|ELAVL4_ENST00000371819.1_Missense_Mutation_p.M272I|ELAVL4_ENST00000448907.2_Missense_Mutation_p.M270I|ELAVL4_ENST00000371821.1_Missense_Mutation_p.M286I|ELAVL4_ENST00000357083.4_Missense_Mutation_p.M284I|ELAVL4_ENST00000371823.4_Missense_Mutation_p.M281I P26378 ELAV4_HUMAN ELAV like neuron-specific RNA binding protein 4 281 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 TTGATGGAATGACAAGCCTTG 0.532000 6 140 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502019 140502019 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:140502019C>G ENST00000194152.1 + 1 439 c.439C>G c.(439-441)Ccg>Gcg p.P147A NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 147 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAATAGCCAGCCGGGTACTCT 0.393000 21 48 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5624594 5624594 + Missense_Mutation SNP A A T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:5624594A>T ENST00000310917.2 - 14 2662 c.1931T>A c.(1930-1932)cTg>cAg p.L644Q EVC2_ENST00000344408.5_Missense_Mutation_p.L724Q|EVC2_ENST00000344938.1_Missense_Mutation_p.L724Q NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 724 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 ACGCTCCTGCAGCTCCTCCAG 0.652000 63 69 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6610897 6610897 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:6610897G>A ENST00000285599.3 + 12 1914 c.1878G>A c.(1876-1878)gtG>gtA p.V626V MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.V575V NM_015274.1 NP_056089.1 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 626 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 ACGGGGATGTGAAACAGGGCC 0.572000 27 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179659214 179659214 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:179659214C>G ENST00000589042.1 - 8 1534 c.1310G>C c.(1309-1311)aGa>aCa p.R437T TTN_ENST00000342992.6_Missense_Mutation_p.R437T|TTN_ENST00000359218.5_Missense_Mutation_p.R437T|TTN_ENST00000342175.6_Missense_Mutation_p.R437T|TTN_ENST00000591111.1_Missense_Mutation_p.R437T|TTN_ENST00000460472.2_Missense_Mutation_p.R437T|TTN_ENST00000360870.5_Missense_Mutation_p.R437T NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 437 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) TTCTCTCACTCTGGCCATATC 0.478000 6 138 0 0 1 0 0 ANKS1A 23294 broad.mit.edu 37 6 34962090 34962090 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:34962090G>C ENST00000360359.3 + 10 1452 c.1314G>C c.(1312-1314)atG>atC p.M438I ANKS1A_ENST00000535627.1_Intron NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 438 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 TTCTGTCCATGAGACCTAGGA 0.458000 56 36 0 0 1 0 0 BICC1 80114 broad.mit.edu 37 10 60566350 60566350 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:60566350G>A ENST00000373886.3 + 16 2192 c.2188G>A c.(2188-2190)Gac>Aac p.D730N BICC1_ENST00000263103.1_Missense_Mutation_p.D356N NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 730 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 TCAGGCATTTGACTATGAACA 0.343000 28 110 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102056180 102056180 + Missense_Mutation SNP A A G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:102056180A>G ENST00000549145.1 + 20 2141 c.2041A>G c.(2041-2043)Agg>Ggg p.R681G MYBPC1_ENST00000361685.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R649G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R654G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R693G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R642G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R656G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R569G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R668G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R655G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R668G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R668G Q00872 MYPC1_HUMAN myosin binding protein C, slow type 668 Fibronectin type-III 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 CAGGTGGATGAGGCTGAATTT 0.403000 3 54 0 0 1 0 0 EIF4G3 8672 broad.mit.edu 37 1 21155725 21155725 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:21155725C>T ENST00000602326.1 - 29 4535 c.3952G>A c.(3952-3954)Gat>Aat p.D1318N EIF4G3_ENST00000537738.1_Missense_Mutation_p.D802N|EIF4G3_ENST00000374937.3_Missense_Mutation_p.D1318N|EIF4G3_ENST00000264211.8_Missense_Mutation_p.D1312N|EIF4G3_ENST00000536266.1_Missense_Mutation_p.D916N|EIF4G3_ENST00000374935.3_Missense_Mutation_p.D1032N|EIF4G3_ENST00000400422.1_Missense_Mutation_p.D1312N NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1312 MI. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) TGGGGAATATCAATGGCCATG 0.363000 19 40 0 0 1 0 0 GMPR2 51292 broad.mit.edu 37 14 24707760 24707760 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:24707760G>A ENST00000557854.1 + 8 1337 c.1060G>A c.(1060-1062)Gaa>Aaa p.E354K GMPR2_ENST00000348719.7_Missense_Mutation_p.E336K|GMPR2_ENST00000559836.1_Intron|GMPR2_ENST00000559910.1_Intron|GMPR2_ENST00000399440.2_Intron|GMPR2_ENST00000456667.3_Intron|GMPR2_ENST00000420554.2_Intron|GMPR2_ENST00000355299.4_Intron|GMPR2_ENST00000559104.1_Intron NM_001283022.1 NP_001269951.1 Q9P2T1 GMPR2_HUMAN guanosine monophosphate reductase 2 0 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage cytosol GMP reductase activity|metal ion binding large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(265;0.0181) AAGGAATCCAGAAGGAGAAGA 0.468000 26 6 0 0 1 0 0 PIK3CB 5291 broad.mit.edu 37 3 138417757 138417757 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:138417757C>T ENST00000477593.1 - 12 1835 c.1762G>A c.(1762-1764)Gtt>Att p.V588I PIK3CB_ENST00000544716.1_Missense_Mutation_p.V34I|PIK3CB_ENST00000289153.2_Missense_Mutation_p.V588I P42338 PK3CB_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 588 PI3K helical. activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 ACCTGAGCAACATCCTCAAGT 0.363000 39 114 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49379127 49379127 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:49379127C>T ENST00000200453.5 + 3 2191 c.1922C>T c.(1921-1923)tCg>tTg p.S641L NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 641 apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TCTGTCCCTTCGTCCCCAGTC 0.682000 185 162 0 0 1 0 0 DIABLO 56616 broad.mit.edu 37 12 122702861 122702861 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:122702861G>C ENST00000464942.2 - 2 1501 c.108C>G c.(106-108)ctC>ctG p.L36L RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000413918.1_Intron|DIABLO_ENST00000443649.3_Silent_p.L89L|DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000267169.6_Silent_p.L36L NM_001278304.1 NP_001265233.1 Q9NR28 DBLOH_HUMAN diablo, IAP-binding mitochondrial protein 89 activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space protein binding breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1) 7 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223) TGGTCTGAGAGAGAAAGGTAG 0.388000 4 95 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48210950 48210950 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:48210950G>A ENST00000394747.1 - 24 3772 c.3423C>T c.(3421-3423)atC>atT p.I1141I ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Silent_p.I1141I|ABCC11_ENST00000356608.2_Silent_p.I1141I|ABCC11_ENST00000394748.1_Silent_p.I1141I NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 1141 ABC transporter 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CCTGAAATATGATTTCCCCAT 0.493000 27 57 0 0 1 0 0 DAZAP1 26528 broad.mit.edu 37 19 1434829 1434829 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:1434829C>T ENST00000233078.4 + 12 1303 c.1142C>T c.(1141-1143)tCg>tTg p.S381L DAZAP1_ENST00000336761.6_3'UTR NM_018959.2 NP_061832.2 Q96EP5 DAZP1_HUMAN DAZ associated protein 1 381 Pro-rich. S -> T (in a breast cancer sample; somatic mutation). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCCAGGGTcggggggcccc 0.711000 16 13 0 0 1 0 0 ZBED6CL 113763 broad.mit.edu 37 7 150027548 150027548 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:150027548C>A ENST00000343855.4 + 1 611 c.55C>A c.(55-57)Cag>Aag p.Q19K LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron NM_138434.2 NP_612443.1 ZBED6 C-terminal like GGTGCTGCCCCAGCTGCGCTA 0.647000 6 128 0.000157383 0.000159441 1 1 0 ZFYVE1 53349 broad.mit.edu 37 14 73460022 73460022 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:73460022G>A ENST00000556143.1 - 4 1752 c.1032C>T c.(1030-1032)ttC>ttT p.F344F ZFYVE1_ENST00000318876.5_Silent_p.F344F|ZFYVE1_ENST00000553891.1_Silent_p.F344F NM_001281735.1|NM_021260.2 NP_001268664.1|NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 344 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) CCAGCTTCCGGAACCGGTCCT 0.493000 5 47 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19556150 19556150 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:19556150C>G ENST00000396212.2 + 10 2952 c.2516C>G c.(2515-2517)tCa>tGa p.S839* CCP110_ENST00000381396.5_Nonsense_Mutation_p.S839*|CCP110_ENST00000396208.2_Nonsense_Mutation_p.S839* NM_014711.4 NP_055526 O43303 CP110_HUMAN centriolar coiled coil protein 110kDa 839 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 AGTTTTCAGTCAGAAGCACCA 0.358000 27 135 0 0 1 0 0 EDAR 10913 broad.mit.edu 37 2 109545682 109545682 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:109545682C>T ENST00000409271.1 - 5 771 c.328G>A c.(328-330)Gac>Aac p.D110N EDAR_ENST00000258443.2_Missense_Mutation_p.D110N|EDAR_ENST00000376651.1_Missense_Mutation_p.D110N Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 110 D -> A (in EDA). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 CACTCAGCGTCATTCTCCATG 0.592000 22 21 0 0 1 0 0 DBNL 28988 broad.mit.edu 37 7 44091445 44091445 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:44091445G>A ENST00000494774.1 + 3 177 c.156G>A c.(154-156)gaG>gaA p.E52E DBNL_ENST00000452943.1_Silent_p.E52E|DBNL_ENST00000456905.1_Silent_p.E52E|DBNL_ENST00000448521.1_Silent_p.E52E|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Intron|DBNL_ENST00000440166.1_Intron|DBNL_ENST00000468694.1_Silent_p.E52E NM_014063.6 NP_054782.2 Q9UJU6 DBNL_HUMAN drebrin-like 52 ADF-H. activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1) 12 GCCTGGAGGAGATGGTGGAGG 0.592000 5 59 0 0 1 0 0 BBS1 582 broad.mit.edu 37 11 66278499 66278499 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:66278499G>A ENST00000419755.3 + 2 252 c.174G>A c.(172-174)tcG>tcA p.S58S BBS1_ENST00000537537.1_5'UTR|BBS1_ENST00000318312.7_Silent_p.S21S|BBS1_ENST00000393994.2_Silent_p.S21S|BBS1_ENST00000455748.2_Silent_p.S21S|BBS1_ENST00000529766.1_3'UTR AGGCCAATTCGAAGTGGTTGG 0.527000 5 365 0 0 1 0 0 ADSSL1 122622 broad.mit.edu 37 14 105207471 105207471 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:105207471C>G ENST00000332972.5 + 8 972 c.813C>G c.(811-813)atC>atG p.I271M ADSSL1_ENST00000330877.2_Missense_Mutation_p.I228M NM_199165.1 NP_954634.1 Q8N142 PURA1_HUMAN adenylosuccinate synthase like 1 228 AMP biosynthetic process|immune system process|purine base metabolic process cytosol adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1) 11 all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.18) L-Aspartic Acid(DB00128) CTGAGCGGATCAGACCCATGG 0.622000 40 5 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110782744 110782744 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:110782744G>A ENST00000395494.2 + 16 3057 c.2494G>A c.(2494-2496)Gac>Aac p.D832N ATP2A2_ENST00000539276.2_Missense_Mutation_p.D859N|ATP2A2_ENST00000308664.6_Missense_Mutation_p.D859N P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 859 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CATTGCTGCTGACGGTGGTCC 0.532000 50 40 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2906529 2906529 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:2906529G>A ENST00000355842.3 + 11 2063 c.1200G>A c.(1198-1200)ctG>ctA p.L400L ADD1_ENST00000398123.2_Silent_p.L400L|ADD1_ENST00000513328.2_Silent_p.L400L|ADD1_ENST00000503455.2_Silent_p.L400L|ADD1_ENST00000264758.7_Silent_p.L400L|ADD1_ENST00000398129.1_Silent_p.L400L|ADD1_ENST00000446856.1_Silent_p.L400L|ADD1_ENST00000398125.1_Silent_p.L400L P35611 ADDA_HUMAN adducin 1 (alpha) 400 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ACCCTGCTCTGAGAGAGAAGT 0.478000 51 82 0 0 1 0 0 SRSF5 6430 broad.mit.edu 37 14 70237198 70237198 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:70237198C>T ENST00000553521.1 + 7 1834 c.381C>T c.(379-381)ttC>ttT p.F127F SRSF5_ENST00000553635.1_Silent_p.F124F|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000557154.1_Silent_p.F127F|SRSF5_ENST00000394366.2_Silent_p.F127F Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 127 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 TCAAAGATTTCATGAGACAAG 0.368000 31 7 0 0 1 0 0 JRKL 8690 broad.mit.edu 37 11 96123862 96123862 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:96123862G>C ENST00000458427.1 + 1 705 c.49G>C c.(49-51)Gat>Cat p.D17H JRKL_ENST00000332349.4_Missense_Mutation_p.D17H|JRKL_ENST00000546177.1_Intron NM_003772.3 NP_003763.2 Q9Y4A0 JERKL_HUMAN jerky homolog-like (mouse) 17 HTH psq-type. central nervous system development|regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) BRCA - Breast invasive adenocarcinoma(274;0.148) AGATAAGCTTGATATAATAAA 0.403000 48 7 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145665842 145665842 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:145665842C>T ENST00000409379.3 - 10 1211 c.1182G>A c.(1180-1182)ctG>ctA p.L394L NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 394 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GTGCAATGTTCAGCCAGGTCT 0.687000 6 128 0 0 1 0 0 PBX2 5089 broad.mit.edu 37 6 32154196 32154196 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:32154196T>C ENST00000375050.4 - 9 1526 c.1256A>G c.(1255-1257)gAg>gGg p.E419G NM_002586.4 NP_002577.2 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 419 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 CCCTGGTCCCTCCGTTGGGGA 0.567000 6 17 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94690463 94690463 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:94690463G>A ENST00000282020.4 + 15 2721 c.2463G>A c.(2461-2463)caG>caA p.Q821Q GRID2_ENST00000510992.1_Silent_p.Q726Q NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 821 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACACAAAGCAGAAAGGAGGCG 0.522000 47 55 0 0 1 0 0 NPPA 4878 broad.mit.edu 37 1 11907678 11907678 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:11907678G>C ENST00000376480.3 - 1 162 c.64C>G c.(64-66)Cag>Gag p.Q22E NPPA_ENST00000376476.1_Intron|NPPA-AS1_ENST00000400892.2_RNA|NPPA-AS1_ENST00000446542.1_RNA NM_006172.3 NP_006163.1 P01160 ANF_HUMAN natriuretic peptide A 22 cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTCTGGTCTGACCTAGGAGC 0.572000 5 240 0 0 1 0 0 CLOCK 9575 broad.mit.edu 37 4 56325151 56325151 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:56325151C>G ENST00000309964.4 - 10 950 c.700G>C c.(700-702)Gaa>Caa p.E234Q CLOCK_ENST00000513440.1_Missense_Mutation_p.E234Q|CLOCK_ENST00000381322.1_Missense_Mutation_p.E234Q NM_004898.3 NP_004889.1 O15516 CLOCK_HUMAN clock circadian regulator 234 circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) ATAGTTCCTTCAAAACCATTG 0.363000 5 82 0 0 1 0 0 RASGRF1 5923 broad.mit.edu 37 15 79296352 79296352 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:79296352G>A ENST00000419573.3 - 16 2563 c.2289C>T c.(2287-2289)atC>atT p.I763I RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.I747I|RASGRF1_ENST00000560334.1_5'UTR NM_002891.4 NP_002882.3 Q13972 RGRF1_HUMAN Ras protein-specific guanine nucleotide-releasing factor 1 764 activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CGCCAGTGATGATGGGGATGT 0.652000 4 81 0 0 1 0 0 MUC6 4588 broad.mit.edu 37 11 1031175 1031175 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:1031175C>T ENST00000421673.2 - 5 618 c.568G>A c.(568-570)Gag>Aag p.E190K NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 190 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTACCCTCCTCACTGACAAAC 0.682000 4 0 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185038146 185038146 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:185038146C>T ENST00000296741.2 - 5 859 c.718G>A c.(718-720)Gat>Aat p.D240N NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 240 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) ATTCCGTGATCCGAGAAAATA 0.532000 20 46 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78492426 78492426 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:78492426C>G ENST00000377211.4 - 2 705 c.553G>C c.(553-555)Gag>Cag p.E185Q EDNRB_ENST00000446573.1_Missense_Mutation_p.E95Q|EDNRB_ENST00000334286.5_Missense_Mutation_p.E95Q NM_001201397.1 NP_001188326.1 P24530 EDNRB_HUMAN endothelin receptor type B 95 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) TCCTTGATCTCGATGGGTCCT 0.562000 18 52 0 0 1 0 0 FBXO30 84085 broad.mit.edu 37 6 146127452 146127452 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:146127452C>G ENST00000237281.4 - 2 256 c.90G>C c.(88-90)ttG>ttC p.L30F NM_032145.4 NP_115521.3 Q8TB52 FBX30_HUMAN F-box protein 30 30 ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) GACAACCAATCAAATCACAGG 0.463000 4 108 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140257971 140257971 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:140257971C>T ENST00000275884.6 - 10 2348 c.1931G>A c.(1930-1932)aGa>aAa p.R644K DENND2A_ENST00000492720.1_Missense_Mutation_p.R644K|DENND2A_ENST00000496613.1_Missense_Mutation_p.R644K|DENND2A_ENST00000537639.1_Missense_Mutation_p.R644K Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 644 UDENN. breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) ACCGAACCTTCTGCTCCCATC 0.468000 38 4 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26157269 26157269 + Missense_Mutation SNP G G C rs139391118 by1000genomes TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:26157269G>C ENST00000304218.3 + 1 711 c.651G>C c.(649-651)aaG>aaC p.K217N NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 217 nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.K217K(1) NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 CGGCAGCCAAGAAAAAGTAGA 0.537000 40 27 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47492827 47492827 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:47492827G>T ENST00000404338.3 + 4 3931 c.3931G>T c.(3931-3933)Gac>Tac p.D1311Y NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1311 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GGCAGAGAAAGACTTTACGGT 0.532000 46 38 9.58827e-17 1.02495e-16 1 1 0 WDR96 80217 broad.mit.edu 37 10 105921725 105921725 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:105921725C>G ENST00000357060.3 - 26 3523 c.3408G>C c.(3406-3408)ttG>ttC p.L1136F WDR96_ENST00000428666.1_Missense_Mutation_p.L1137F NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1136 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCACCATTCTCAAAATATCTT 0.423000 16 579 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534656 16534656 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:16534656G>A ENST00000270747.3 - 3 613 c.477C>T c.(475-477)ttC>ttT p.F159F NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 159 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) CAGGCTCTAGGAAGACAGCGT 0.662000 46 34 0 0 1 0 0 WDR33 55339 broad.mit.edu 37 2 128467130 128467130 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:128467130G>A ENST00000322313.4 - 20 3657 c.3499C>T c.(3499-3501)Cct>Tct p.P1167S NM_018383.4 NP_060853.3 Q9C0J8 WDR33_HUMAN WD repeat domain 33 1167 postreplication repair|spermatogenesis collagen|nucleus protein binding NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0695) AACTCGTCAGGAGTGGGAAGT 0.502000 5 130 0 0 1 0 0 ZNF14 7561 broad.mit.edu 37 19 19822462 19822462 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:19822462G>C ENST00000344099.3 - 4 1766 c.1628C>G c.(1627-1629)tCc>tGc p.S543C NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) AATTTGACTGGAACGAAGGAA 0.383000 77 42 0 0 1 0 0 LPHN1 22859 broad.mit.edu 37 19 14262129 14262129 + Silent SNP A A C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:14262129A>C ENST00000340736.6 - 24 4278 c.3981T>G c.(3979-3981)ggT>ggG p.G1327G CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Silent_p.G1322G NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1327 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CCCGGTCAGCACCCCCGGGCC 0.716000 7 14 0 0 1 0 0 TMEM38A 79041 broad.mit.edu 37 19 16793300 16793300 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:16793300G>C ENST00000187762.2 + 4 626 c.535G>C c.(535-537)Gag>Cag p.E179Q NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 179 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 AGAGACCAACGAGATCCTGCA 0.562000 26 47 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52823841 52823841 + Nonsense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:52823841G>A ENST00000273283.2 + 19 2316 c.2292G>A c.(2290-2292)tgG>tgA p.W764* ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.W476*|ITIH1_ENST00000405128.3_Nonsense_Mutation_p.W130*|ITIH1_ENST00000540715.1_Nonsense_Mutation_p.W622* NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 764 Hyaluronan-binding. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) TGTTTTCCTGGAGGGACCAAG 0.622000 51 55 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186076087 186076087 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:186076087G>A ENST00000271588.4 + 70 11071 c.10842G>A c.(10840-10842)gtG>gtA p.V3614V HMCN1_ENST00000367492.2_Silent_p.V3614V NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3614 Ig-like C2-type 34. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AATATCTAGTGAGAGTGCATG 0.388000 5 120 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618234 77618234 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:77618234G>A ENST00000521891.2 + 2 2359 c.1911G>A c.(1909-1911)tcG>tcA p.S637S ZFHX4_ENST00000455469.2_Silent_p.S637S|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.S637S|ZFHX4_ENST00000050961.6_Silent_p.S637S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 637 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGATGCACTCGAGGAACTCAT 0.522000 HNSCC(33;0.089) 28 80 0 0 1 0 0 BCAR1 9564 broad.mit.edu 37 16 75276443 75276443 + Silent SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:75276443C>G ENST00000546196.1 - 2 2123 c.471G>C c.(469-471)ggG>ggC p.G157G BCAR1_ENST00000162330.5_Silent_p.G186G|BCAR1_ENST00000418647.3_Silent_p.G232G|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000393422.2_Silent_p.G204G|BCAR1_ENST00000542031.2_Silent_p.G184G|BCAR1_ENST00000420641.3_Silent_p.G204G|BCAR1_ENST00000393420.6_Silent_p.G186G|BCAR1_ENST00000538440.2_Silent_p.G186G P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 186 Substrate for kinases (By similarity). actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2) 35 BRCA - Breast invasive adenocarcinoma(221;0.169) CATGCCCCATCCCGGCAGAAG 0.652000 13 113 0 0 1 0 0 FAM3C 10447 broad.mit.edu 37 7 121012180 121012180 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:121012180C>A ENST00000359943.3 - 4 345 c.132G>T c.(130-132)ttG>ttT p.L44F NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 44 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) CAGCTGTGTCCAATGCTGATC 0.308000 13 5 1.15088e-07 1.2026e-07 1 1 0 GRAMD1C 54762 broad.mit.edu 37 3 113595078 113595078 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:113595078G>A ENST00000358160.4 + 5 922 c.430G>A c.(430-432)Gct>Act p.A144T GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 144 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 CATCCCAAACGCTATCCAGAT 0.299000 6 130 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47587686 47587686 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:47587686C>T ENST00000371917.4 + 10 1220 c.1220C>T c.(1219-1221)tCc>tTc p.S407F NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 407 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) AAGGTGGTTTCCCTGCAGCTG 0.448000 5 179 0 0 1 0 0 NPR3 4883 broad.mit.edu 37 5 32712192 32712192 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:32712192G>A ENST00000265074.8 + 1 653 c.310G>A c.(310-312)Gag>Aag p.E104K NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.E104K|NPR3_ENST00000434067.2_Intron NM_000908.3|NM_001204375.1 NP_000899.1|NP_001191304.1 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) 104 osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 24 Nesiritide(DB04899) GGTGGCTTACGAGGATTCAGA 0.692000 59 128 0 0 1 0 0 ARHGEF40 55701 broad.mit.edu 37 14 21553959 21553959 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:21553959G>C ENST00000298694.4 + 19 4199 c.4072G>C c.(4072-4074)Gag>Cag p.E1358Q ARHGEF40_ENST00000298693.3_Missense_Mutation_p.E1358Q Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1358 PH. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 AACCTCACCAGAGATCAAACT 0.577000 3 33 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227839 28227839 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:28227839G>A ENST00000343684.3 + 1 742 c.690G>A c.(688-690)aaG>aaA p.K230K NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 230 Lys-rich. breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 agaaaaagaagaaaaagaaac 0.338000 13 16 0 0 1 0 0 SOCS2 8835 broad.mit.edu 37 12 93968538 93968538 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:93968538G>A ENST00000340600.2 + 3 778 c.180G>A c.(178-180)gaG>gaA p.E60E SOCS2_ENST00000536696.2_Silent_p.E60E|SOCS2_ENST00000549206.1_Silent_p.E60E|SOCS2_ENST00000551556.1_Silent_p.E60E|SOCS2_ENST00000549122.1_Silent_p.E60E|SOCS2_ENST00000548537.1_3'UTR NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4 NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1 O14508 SOCS2_HUMAN suppressor of cytokine signaling 2 60 SH2. anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus cytoplasm growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1) 14 AAGCCAAAGAGAAATTAAAAG 0.358000 4 66 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50673017 50673017 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:50673017G>A ENST00000403097.1 - 14 2121 c.1341C>T c.(1339-1341)agC>agT p.S447S GRB10_ENST00000439599.1_Silent_p.S447S|GRB10_ENST00000398810.2_Silent_p.S395S|GRB10_ENST00000401949.1_Silent_p.S453S|GRB10_ENST00000398812.2_Silent_p.S453S|GRB10_ENST00000402497.1_Silent_p.S395S|GRB10_ENST00000402578.1_Silent_p.S395S|GRB10_ENST00000357271.5_Silent_p.S407S|GRB10_ENST00000335866.3_Silent_p.S395S|GRB10_ENST00000407526.1_Silent_p.S395S|GRB10_ENST00000406641.1_Silent_p.S395S Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 453 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) CCAGGGCTGCGCTCTGGGCCT 0.637000 Russell-Silver syndrome 16 69 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85770092 85770092 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:85770092G>C ENST00000306434.3 + 8 1143 c.1020G>C c.(1018-1020)aaG>aaC p.K340N MAT2A_ENST00000409017.1_Missense_Mutation_p.K277N NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 340 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CCTCTCAGAAGAGTGAGAGAG 0.398000 21 61 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507643 155507643 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:155507643G>C ENST00000302053.3 - 5 1016 c.938C>G c.(937-939)tCt>tGt p.S313C FGA_ENST00000403106.3_Missense_Mutation_p.S313C NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 313 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCCAGTCCCAGAGCTCCCAGG 0.572000 124 137 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118505897 118505897 + Nonsense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:118505897C>G ENST00000311085.8 + 24 5491 c.5411C>G c.(5410-5412)tCa>tGa p.S1804* DMXL1_ENST00000539542.1_Nonsense_Mutation_p.S1804* NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1804 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CAAGTTTTATCAGCCAGTAAT 0.323000 27 15 0 0 1 0 0 ZNF100 163227 broad.mit.edu 37 19 21909601 21909601 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:21909601T>C ENST00000358296.6 - 5 1711 c.1513A>G c.(1513-1515)Ata>Gta p.I505V ZNF100_ENST00000305570.6_Missense_Mutation_p.I441V NM_173531.3 NP_775802.2 Q8IYN0 ZN100_HUMAN zinc finger protein 100 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 21 GTATGAGTTATCTTATGTTTA 0.368000 43 40 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897229 175897229 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:175897229C>G ENST00000359240.3 + 5 1223 c.553C>G c.(553-555)Cag>Gag p.Q185E ADAM29_ENST00000445694.1_Missense_Mutation_p.Q185E|ADAM29_ENST00000404450.4_Missense_Mutation_p.Q185E|ADAM29_ENST00000514159.1_Missense_Mutation_p.Q185E NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 185 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.Q185E(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TAATTCCACTCAGAAGCAAAG 0.358000 38 44 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542973 14542973 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:14542973C>T ENST00000358970.5 - 1 172 c.173G>A c.(172-174)aGg>aAg p.R58K POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 58 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CATCTTGCTCCTGAGCATCTT 0.582000 66 197 0 0 1 0 0 ACBD4 79777 broad.mit.edu 37 17 43220960 43220960 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:43220960C>T ENST00000592162.1 + 9 1101 c.800C>T c.(799-801)gCa>gTa p.A267V ACBD4_ENST00000591859.1_Silent_p.C326C|ACBD4_ENST00000321854.8_3'UTR|ACBD4_ENST00000431281.1_Silent_p.C326C|ACBD4_ENST00000586346.1_Silent_p.C326C|ACBD4_ENST00000398322.3_3'UTR Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 0 fatty-acyl-CoA binding kidney(1)|lung(3)|ovary(1) 5 GGGGTCTCTGCAGCCAACTGA 0.557000 50 30 0 0 1 0 0 TSPYL1 7259 broad.mit.edu 37 6 116600642 116600642 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:116600642C>T ENST00000368608.3 - 1 424 c.352G>A c.(352-354)Gac>Aac p.D118N DSE_ENST00000540275.1_Intron NM_003309.3 NP_003300.1 Q9H0U9 TSYL1_HUMAN TSPY-like 1 118 nucleosome assembly nucleolus breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1) 11 all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234) all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094) AGGCTGCGGTCGGCTGCCATC 0.657000 59 42 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 951666 951666 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:951666C>T ENST00000264771.4 + 11 1082 c.897C>T c.(895-897)ctC>ctT p.L299L TMEM175_ENST00000508204.1_Silent_p.L217L|TMEM175_ENST00000515740.1_Silent_p.L183L NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 299 integral to membrane p.L299L(1) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCGGCAGCCTCGTGGCCGCCC 0.632000 59 91 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140782700 140782700 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:140782700G>C ENST00000573521.1 + 1 181 c.181G>C c.(181-183)Gag>Cag p.E61Q PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCTGGCGGAGCGCCGAGT 0.607000 52 108 0 0 1 0 0 C2orf44 80304 broad.mit.edu 37 2 24260579 24260579 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:24260579G>C ENST00000295148.4 - 2 1843 c.1786C>G c.(1786-1788)Caa>Gaa p.Q596E C2orf44_ENST00000406895.3_Missense_Mutation_p.Q596E NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 596 protein binding p.Q596E(1) C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGAAGATCTTGAGAGAGTGGA 0.403000 T ALK NSCLC 89 50 0 0 1 0 0 TTYH2 94015 broad.mit.edu 37 17 72233568 72233568 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:72233568C>G ENST00000269346.4 + 4 624 c.550C>G c.(550-552)Cag>Gag p.Q184E TTYH2_ENST00000529107.1_Missense_Mutation_p.Q163E NM_032646.5 NP_116035.5 Q9BSA4 TTYH2_HUMAN tweety family member 2 184 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 CGTTGTTGTTCAGCTCTCAGG 0.597000 21 50 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54081027 54081027 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:54081027C>T ENST00000253144.9 + 7 2546 c.1213C>T c.(1213-1215)Cat>Tat p.H405Y ZNF331_ENST00000511154.1_Missense_Mutation_p.H405Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.H405Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.H405Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.H405Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.H405Y|ZNF331_ENST00000449416.1_Missense_Mutation_p.H405Y NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) TGAGAGAATTCATACCGGGGT 0.483000 T ? follicular thyroid adenoma 28 22 0 0 1 0 0 GGT1 2678 broad.mit.edu 37 22 25016298 25016298 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:25016298G>A ENST00000400382.1 + 8 1141 c.386G>A c.(385-387)gGg>gAg p.G129E GGT1_ENST00000400380.1_Missense_Mutation_p.G129E|GGT1_ENST00000400383.1_Missense_Mutation_p.G129E|GGT1_ENST00000248923.4_Missense_Mutation_p.G129E|GGT1_ENST00000406383.2_Missense_Mutation_p.G129E P19440 GGT1_HUMAN gamma-glutamyltransferase 1 129 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity|protein binding breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 40 Glutathione(DB00143) TCCCCAGGGGGGCTGTCGGTG 0.642000 10 23 0 0 1 0 0 KIZ-AS1 101929591 broad.mit.edu 37 20 21143479 21143479 + RNA SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:21143479C>T ENST00000591761.1 - 0 5099 RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA CAGTTCATGTCGCCACTTGCA 0.458000 13 16 0 0 1 0 0 PTGR2 145482 broad.mit.edu 37 14 74347981 74347981 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr14:74347981G>C ENST00000555661.1 + 8 1070 c.925G>C c.(925-927)Gaa>Caa p.E309Q RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.E239Q|PTGR2_ENST00000553813.1_Missense_Mutation_p.E175Q|PTGR2_ENST00000555228.1_Missense_Mutation_p.E309Q|PTGR2_ENST00000267568.4_Missense_Mutation_p.E309Q Q8N8N7 PTGR2_HUMAN prostaglandin reductase 2 309 prostaglandin metabolic process 15-oxoprostaglandin 13-oxidase activity|zinc ion binding NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2) 9 GTGGTTTAAAGAAGGAAAGCT 0.313000 48 16 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52469258 52469258 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr19:52469258C>T ENST00000243644.4 - 5 675 c.448G>A c.(448-450)Gaa>Aaa p.E150K HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 150 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) TTCTTTATTTCATAGCCTTTG 0.348000 71 44 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28296332 28296332 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:28296332G>A ENST00000394835.3 + 4 906 c.714G>A c.(712-714)atG>atA p.M238I EFCAB5_ENST00000536908.2_Missense_Mutation_p.M182I|EFCAB5_ENST00000320856.5_Missense_Mutation_p.M238I|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.M238I|EFCAB5_ENST00000394832.2_Missense_Mutation_p.M238I|EFCAB5_ENST00000534836.2_Intron NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 238 calcium ion binding p.M238I(1) breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 AGAGGTTGATGAAAGAAGTCA 0.358000 21 27 0 0 1 0 0 SREK1 140890 broad.mit.edu 37 5 65460643 65460643 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:65460643C>T ENST00000334121.6 + 7 1078 c.919C>T c.(919-921)Cga>Tga p.R307* SREK1_ENST00000380918.3_Nonsense_Mutation_p.R191*|SREK1_ENST00000284041.3_3'UTR NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 191 Arg/Glu/Lys/Ser-rich. mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 AAAAGGCGGTCGATCTCGTTC 0.413000 39 94 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228486995 228486995 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:228486995G>A ENST00000570156.2 + 50 13320 c.13246G>A c.(13246-13248)Gaa>Aaa p.E4416K OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.E1106K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 3459 Ig-like 45. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TCTGAGGAATGAAGAGGCCAT 0.557000 6 84 0 0 1 0 0 PPIB 5479 broad.mit.edu 37 15 64454344 64454344 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr15:64454344C>G ENST00000300026.3 - 2 363 c.145G>C c.(145-147)Gac>Cac p.D49H PPIB_ENST00000558492.1_Intron NM_000942.4 NP_000933.1 P23284 PPIB_HUMAN peptidylprolyl isomerase B (cyclophilin B) 49 PPIase cyclophilin-type. protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding kidney(2)|large_intestine(2)|lung(6) 10 L-Proline(DB00172) ATTCGTAGGTCAAAATACACC 0.463000 149 114 0 0 1 0 0 P2RX6 9127 broad.mit.edu 37 22 21377687 21377687 + Silent SNP C C T rs147788586 byFrequency TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr22:21377687C>T ENST00000413302.2 + 7 910 c.762C>T c.(760-762)ttC>ttT p.F254F P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Silent_p.F201F|P2RX6_ENST00000336296.2_Silent_p.F244F|P2RX6_ENST00000401443.1_Silent_p.F228F O15547 P2RX6_HUMAN purinergic receptor P2X, ligand-gated ion channel, 6 254 muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity GAGGGACCTTCGAGGACCTGG 0.617000 25 48 0 0 1 0 0 TSC2 7249 broad.mit.edu 37 16 2098649 2098649 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:2098649G>A ENST00000219476.3 + 2 663 c.33G>A c.(31-33)ttG>ttA p.L11L TSC2_ENST00000350773.4_Silent_p.L11L|TSC2_ENST00000439673.2_Silent_p.L11L|TSC2_ENST00000568454.1_Silent_p.L22L|TSC2_ENST00000353929.4_Silent_p.L11L|TSC2_ENST00000401874.2_Silent_p.L11L|TSC2_ENST00000382538.6_Intron NM_000548.3 NP_000539.2 P49815 TSC2_HUMAN tuberous sclerosis 2 11 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) ATTCAGGCTTGAAGGAGAAGT 0.502000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 24 47 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767620 148767620 + Silent SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:148767620C>A ENST00000316286.9 - 3 2258 c.1986G>T c.(1984-1986)gcG>gcT p.A662A ZNF786_ENST00000491431.1_Silent_p.A748A|ZNF786_ENST00000451334.3_Silent_p.A711A Q8N393 ZN786_HUMAN zinc finger protein 786 748 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGATGTGCTCCGCAAGCTTAG 0.512000 9 124 3.09899e-07 3.22739e-07 1 1 0 NF1 4763 broad.mit.edu 37 17 29559126 29559126 + Nonsense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr17:29559126C>A ENST00000358273.4 + 25 3616 c.3233C>A c.(3232-3234)tCa>tAa p.S1078* NF1_ENST00000356175.3_Nonsense_Mutation_p.S1078* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1078 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GCAGTAGTTTCACTTCTAGCT 0.363000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 22 18 4.35082e-09 4.5876e-09 1 1 0 TCHP 84260 broad.mit.edu 37 12 110353227 110353227 + Missense_Mutation SNP A A C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:110353227A>C ENST00000312777.5 + 12 1554 c.1340A>C c.(1339-1341)cAg>cCg p.Q447P TCHP_ENST00000405876.4_Missense_Mutation_p.Q447P NM_032300.4 NP_115676.1 Q9BT92 TCHP_HUMAN trichoplein, keratin filament binding 447 Glu-rich.|Interaction with keratin proteins. apoptosis|negative regulation of cell growth apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2) 22 CGCCGGCTGCAGGCATGGGAA 0.637000 20 55 0 0 1 0 0 DCT 1638 broad.mit.edu 37 13 95092235 95092235 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr13:95092235G>C ENST00000377028.5 - 8 1890 c.1477C>G c.(1477-1479)Ctt>Gtt p.L493V DCT_ENST00000446125.1_Missense_Mutation_p.L526V NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 493 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) CTATATTGAAGAAAAGCCAAC 0.433000 14 51 0 0 1 0 0 CDHR3 222256 broad.mit.edu 37 7 105662837 105662837 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:105662837G>A ENST00000542731.1 + 14 2127 c.2019G>A c.(2017-2019)gtG>gtA p.V673V CDHR3_ENST00000478080.1_Silent_p.V585V|CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000317716.9_Silent_p.V673V|CDHR3_ENST00000470188.1_Intron Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 673 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CAGGAACAGTGACACTGAGTA 0.483000 113 26 0 0 1 0 0 PAG1 55824 broad.mit.edu 37 8 81897370 81897370 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr8:81897370C>T ENST00000220597.4 - 7 1227 c.517G>A c.(517-519)Gaa>Aaa p.E173K NM_018440.3 NP_060910.3 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid microdomains 1 173 epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2) 11 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) ACCATGTTTTCTTGGGAGGAG 0.562000 4 149 0 0 1 0 0 INPPL1 3636 broad.mit.edu 37 11 71948716 71948716 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:71948716C>T ENST00000541756.1 + 26 3632 c.2702C>T c.(2701-2703)tCa>tTa p.S901L INPPL1_ENST00000298229.2_Missense_Mutation_p.S1143L|INPPL1_ENST00000538751.1_Missense_Mutation_p.S901L O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1143 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 CCTGCACGCTCAGCGCTCCTC 0.711000 28 25 0 0 1 0 0 MCM9 254394 broad.mit.edu 37 6 119245037 119245037 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:119245037G>A ENST00000316316.6 - 3 846 c.560C>T c.(559-561)tCa>tTa p.S187L MCM9_ENST00000316068.3_Missense_Mutation_p.S187L NM_017696.2 NP_060166.2 Q9NXL9 MCM9_HUMAN minichromosome maintenance complex component 9 187 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity p.S187*(2) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) AGACAAGCCTGAGAGGCAAGT 0.418000 17 42 0 0 1 0 0 NUP210P1 255330 broad.mit.edu 37 3 126382219 126382219 + RNA SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:126382219C>G ENST00000357061.3 + 0 186 NR_034158.1 ATCCTTTTCTCCATCAGCAAC 0.582000 30 22 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 37 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576272 33576272 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:33576272C>G ENST00000504830.1 - 19 4194 c.3859G>C c.(3859-3861)Gag>Cag p.E1287Q ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E1202Q NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1287 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCATCCTCCTCAGTCAGGACT 0.493000 HNSCC(64;0.19) 12 491 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13653625 13653625 + Missense_Mutation SNP A A G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr10:13653625A>G ENST00000378572.3 + 6 681 c.521A>G c.(520-522)gAg>gGg p.E174G NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 174 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 GCGCTTGGAGAGTCCTTAGGG 0.428000 54 56 0 0 1 0 0 PIM1 5292 broad.mit.edu 37 6 37138635 37138635 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:37138635C>T ENST00000373509.5 + 2 542 c.169C>T c.(169-171)Cgc>Tgc p.R57C NM_001243186.1|NM_002648.3 NP_001230115.1|NP_002639.1 P11309 PIM1_HUMAN pim-1 oncogene 148 cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CTCAGGCATCCGCGTCTCCGA 0.716000 T BCL6 NHL 16 53 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 87023066 87023066 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:87023066G>A ENST00000395169.3 - 7 1151 c.431C>T c.(430-432)tCt>tTt p.S144F MAPK10_ENST00000361569.2_Missense_Mutation_p.S182F|MAPK10_ENST00000395166.1_Missense_Mutation_p.S144F|MAPK10_ENST00000449047.2_Missense_Mutation_p.S37F|MAPK10_ENST00000395160.3_Missense_Mutation_p.S37F|MAPK10_ENST00000395157.3_Missense_Mutation_p.S37F|MAPK10_ENST00000359221.3_Missense_Mutation_p.S182F|MAPK10_ENST00000395161.2_Missense_Mutation_p.S182F NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 182 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) AATTCCAGCAGAATGGAGGTG 0.398000 77 79 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16051906 16051906 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:16051906G>C ENST00000375799.3 + 8 1034 c.807G>C c.(805-807)caG>caC p.Q269H RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000375793.2_Missense_Mutation_p.Q249H NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 269 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) CCCAGCGCCAGAACCCCTTCA 0.662000 4 4 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228163451 228163451 + Missense_Mutation SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:228163451G>C ENST00000396578.3 + 43 3967 c.3805G>C c.(3805-3807)Gac>Cac p.D1269H AC097662.2_ENST00000433324.1_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1269 Triple-helical region. D -> E (in dbSNP:rs57611801). activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CATAAAAGGAGACAAAGGGTC 0.522000 19 26 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177083305 177083305 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:177083305C>T ENST00000393643.2 + 21 3082 c.2830C>T c.(2830-2832)Ctt>Ttt p.L944F WDR17_ENST00000280190.4_Missense_Mutation_p.L968F|WDR17_ENST00000508596.1_Missense_Mutation_p.L944F|WDR17_ENST00000507824.2_Missense_Mutation_p.L951F NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 968 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) ATGTTGCCATCTTGCCATAGA 0.363000 27 31 0 0 1 0 0 SP110 3431 broad.mit.edu 37 2 231076216 231076216 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr2:231076216C>T ENST00000258381.6 - 6 797 c.720G>A c.(718-720)gaG>gaA p.E240E SP110_ENST00000486146.2_5'UTR|SP110_ENST00000258382.5_Silent_p.E240E|SP110_ENST00000540870.1_Silent_p.E246E|SP110_ENST00000358662.4_Silent_p.E240E|SP110_ENST00000392048.3_Silent_p.E240E|SP110_ENST00000338556.3_5'UTR NM_080424.2 NP_536349 Q9HB58 SP110_HUMAN SP110 nuclear body protein 240 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) AGTGGGGCATCTCTTGAGGGT 0.458000 22 30 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133045826 133045826 + Missense_Mutation SNP C C A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr6:133045826C>A ENST00000207771.3 - 6 1191 c.1119G>T c.(1117-1119)atG>atT p.M373I VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000417437.2_3'UTR vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) GCTTCTCAGACATCTTGTAAG 0.383000 13 13 0.00136819 0.00138007 1 1 0 MALAT1 378938 broad.mit.edu 37 11 65266183 65266183 + RNA SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:65266183G>A ENST00000534336.1 + 0 951 NR_002819.2 TCCCTCAAGAGAACACAAGAA 0.393000 6 209 0 0 1 0 0 HMX1 3166 broad.mit.edu 37 4 8869772 8869772 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:8869772C>T ENST00000400677.3 - 2 896 c.694G>A c.(694-696)Gag>Aag p.E232K HMX1_ENST00000506970.2_Intron NM_018942.2 NP_061815.2 Q9NP08 HMX1_HUMAN H6 family homeobox 1 232 multicellular organismal development|negative regulation of transcription, DNA-dependent sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity CCGGCGCGCTCGGCGCTGCTC 0.657000 6 7 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34003079 34003079 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:34003079G>A ENST00000373381.4 - 61 9938 c.9762C>T c.(9760-9762)tgC>tgT p.C3254C NM_001281956.1|NM_052896.3 NP_001268885.1|NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3232 integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CATCTGACTGGCAAAACCTGC 0.612000 4 139 0 0 1 0 0 LETM1 3954 broad.mit.edu 37 4 1843116 1843116 + Silent SNP G G C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:1843116G>C ENST00000302787.2 - 3 848 c.552C>G c.(550-552)cgC>cgG p.R184R NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 184 LETM1. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) CGTTGAGGATGCGCCAGAGCA 0.602000 21 55 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112308560 112308560 + Missense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:112308560C>T ENST00000475700.1 + 3 2696 c.338C>T c.(337-339)tCa>tTa p.S113L DDX20_ENST00000369702.4_Missense_Mutation_p.S505L Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 505 Helicase ATP-binding. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTGGACTATCAGTCAAATCA 0.363000 31 65 0 0 1 0 0 NUP93 9688 broad.mit.edu 37 16 56782202 56782202 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:56782202C>T ENST00000569842.1 + 2 139 c.43C>T c.(43-45)Cag>Tag p.Q15* NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15* Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 15 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.Q15*(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 GCAAGCTGAACAGCTTGCTGC 0.517000 67 52 0 0 1 0 0 HPGDS 27306 broad.mit.edu 37 4 95223384 95223384 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:95223384G>T ENST00000295256.5 - 5 438 c.348C>A c.(346-348)ttC>ttA p.F116L NM_014485.2 NP_055300.1 O60760 HPGDS_HUMAN hematopoietic prostaglandin D synthase 116 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity p.F116F(1) breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1) 7 Glutathione(DB00143) GCAGCTCATTGAACATCTGCT 0.383000 7 190 0.248553 0.24882 1 1 0 TBC1D1 23216 broad.mit.edu 37 4 38134765 38134765 + Nonsense_Mutation SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:38134765C>T ENST00000261439.4 + 19 3548 c.3193C>T c.(3193-3195)Caa>Taa p.Q1065* TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Nonsense_Mutation_p.Q1056* NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 1065 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 CCACGTCCTTCAAGAAGAACT 0.388000 45 46 0 0 1 0 0 MS4A5 64232 broad.mit.edu 37 11 60197253 60197253 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:60197253C>G ENST00000300190.2 + 1 192 c.106C>G c.(106-108)Caa>Gaa p.Q36E MS4A5_ENST00000534071.1_3'UTR NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 36 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 CTTTTCAACTCAAAGCCCCTT 0.428000 22 124 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12280083 12280083 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:12280083G>A ENST00000256194.4 + 25 3499 c.3211G>A c.(3211-3213)Gag>Aag p.E1071K MICAL2_ENST00000342902.5_Missense_Mutation_p.E1050K|MICAL2_ENST00000537344.1_Missense_Mutation_p.E881K|MICAL2_ENST00000527546.1_Missense_Mutation_p.E881K|MICAL2_ENST00000379612.3_Missense_Mutation_p.E845K NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 1071 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GAGACGGGCAGAGTTGAAGCA 0.438000 48 14 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127595513 127595513 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:127595513C>G ENST00000508053.1 - 71 9347 c.8373G>C c.(8371-8373)caG>caC p.Q2791H FBN2_ENST00000262464.4_Missense_Mutation_p.Q2791H P35556 FBN2_HUMAN fibrillin 2 2791 bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CTAGGCTGATCTGTTCAACCT 0.527000 69 102 0 0 1 0 0 USP4 7375 broad.mit.edu 37 3 49321496 49321496 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:49321496C>G ENST00000351842.4 - 18 2331 c.2323G>C c.(2323-2325)Gtg>Ctg p.V775L USP4_ENST00000265560.4_Missense_Mutation_p.V822L NM_199443.2 NP_955475.1 Q13107 UBP4_HUMAN ubiquitin specific peptidase 4 (proto-oncogene) 822 negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process lysosome|nucleus adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121) OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05) AGGTGGACCACCAGGATCTTG 0.468000 30 95 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53912421 53912421 + Missense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:53912421G>T ENST00000335754.3 - 3 468 c.368C>A c.(367-369)tCc>tAc p.S123Y ACTR8_ENST00000482349.1_Missense_Mutation_p.S12Y NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 123 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TGTACCATTGGACATCTTTTT 0.368000 90 119 1.21964e-59 1.34074e-59 1 1 0 DOCK2 1794 broad.mit.edu 37 5 169454900 169454900 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:169454900G>A ENST00000256935.8 + 34 3495 c.3415G>A c.(3415-3417)Gag>Aag p.E1139K DOCK2_ENST00000520908.1_Missense_Mutation_p.E631K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E200K NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1139 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTGGACCACGAGGTAGAAGG 0.478000 17 58 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34782186 34782186 + Silent SNP C C T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:34782186C>T ENST00000338074.2 + 12 1514 c.1353C>T c.(1351-1353)gaC>gaT p.D451D EPB41L1_ENST00000373950.2_Silent_p.D354D|EPB41L1_ENST00000373946.3_Silent_p.D420D|EPB41L1_ENST00000373941.1_Silent_p.D451D|EPB41L1_ENST00000441639.1_Silent_p.D389D|EPB41L1_ENST00000202028.5_Silent_p.D389D NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 451 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CAGGGCCTGACGGTGACAAGC 0.602000 9 69 0 0 1 0 0 FOXS1 2307 broad.mit.edu 37 20 30432977 30432977 + Silent SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr20:30432977G>A ENST00000375978.3 - 1 443 c.369C>T c.(367-369)acC>acT p.T123T NM_004118.3 NP_004109.1 O43638 FOXS1_HUMAN forkhead box S1 123 anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis transcription factor complex chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1) 9 CGGGGCCCCGGGTGCCCTCAG 0.701000 48 15 0 0 1 0 0 CXorf66 347487 broad.mit.edu 37 X 139040374 139040374 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chrX:139040374C>G ENST00000370540.1 - 2 114 c.91G>C c.(91-93)Gat>Cat p.D31H NM_001013403.2 NP_001013421.1 Q5JRM2 CX066_HUMAN chromosome X open reading frame 66 31 integral to membrane breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1) 26 ACAGGTTTATCTCCTGCAAAG 0.308000 10 71 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30515559 30515559 + Missense_Mutation SNP G G A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr16:30515559G>A ENST00000356798.6 + 18 2389 c.2209G>A c.(2209-2211)Gaa>Aaa p.E737K ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Missense_Mutation_p.E654K NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 737 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) TTGGGAGGAGGAAGGGACACC 0.498000 63 52 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128612446 128612446 + Missense_Mutation SNP T T C TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:128612446T>C ENST00000308982.7 + 3 374 c.293T>C c.(292-294)tTg>tCg p.L98S NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 98 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 GATGAAACTTTGGAGAAATTG 0.408000 12 35 0 0 1 0 0 MARK2 2011 broad.mit.edu 37 11 63676593 63676593 + Nonsense_Mutation SNP G G T TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr11:63676593G>T ENST00000402010.2 + 19 2830 c.2251G>T c.(2251-2253)Gag>Tag p.E751* MARK2_ENST00000425897.2_Nonsense_Mutation_p.E662*|MARK2_ENST00000408948.3_Nonsense_Mutation_p.E654*|MARK2_ENST00000377810.3_Nonsense_Mutation_p.E654*|MARK2_ENST00000350490.7_Nonsense_Mutation_p.E672*|MARK2_ENST00000513765.2_Nonsense_Mutation_p.E718*|MARK2_ENST00000502399.3_Nonsense_Mutation_p.E741*|MARK2_ENST00000377809.4_Nonsense_Mutation_p.E736*|MARK2_ENST00000361128.5_Nonsense_Mutation_p.E682*|MARK2_ENST00000509502.2_Nonsense_Mutation_p.E708*|MARK2_ENST00000315032.8_Nonsense_Mutation_p.E742*|MARK2_ENST00000508192.1_Nonsense_Mutation_p.E687*|MARK2_ENST00000413835.2_Nonsense_Mutation_p.E697* NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 751 KA1. cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 GTGGGAGATGGAGGTGTGCAA 0.577000 67 64 7.59065e-32 8.26616e-32 1 1 0 TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr1:40713708_40713709delTC ENST00000372766.3 + 1 136_137 c.43_44delTC c.(43-45)tctfs p.S15fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 7 507 --- --- --- --- PPARG 5468 broad.mit.edu 37 3 12393148 12393149 + Frame_Shift_Ins INS - - A TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr3:12393148_12393149insA ENST00000287820.6 + 1 178_179 c.57_58insA c.(58-60)acafs p.T20fs PPARG_ENST00000397015.2_Intron|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000397026.2_Intron|PPARG_ENST00000309576.6_Intron|PPARG_ENST00000397012.2_Intron|PPARG_ENST00000397010.2_Intron NM_015869.4 NP_056953.2 P37231 PPARG_HUMAN peroxisome proliferator-activated receptor gamma 20 activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding PAX8/PPARG(117) breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CCTTCACTGATACACTGTCTGC 0.421 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 45 60 --- --- --- --- GPM6A 2823 broad.mit.edu 37 4 176622891 176622891 + Frame_Shift_Del DEL A A - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr4:176622891delA ENST00000280187.7 - 3 110 c.65delT c.(64-66)ctgfs p.L22fs GPM6A_ENST00000515090.1_Frame_Shift_Del_p.L15fs|GPM6A_ENST00000393658.2_Frame_Shift_Del_p.L22fs|GPM6A_ENST00000506894.1_Frame_Shift_Del_p.L11fs NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 22 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) AATGCCCCCCAGGCATTTGAT 0.438 8 169 --- --- --- --- DCTN4 51164 broad.mit.edu 37 5 150112943 150112943 + Frame_Shift_Del DEL G G - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:150112943delG ENST00000447998.2 - 5 639 c.524delC c.(523-525)cctfs p.P175fs DCTN4_ENST00000424236.1_Frame_Shift_Del_p.P118fs|DCTN4_ENST00000446090.2_Frame_Shift_Del_p.P175fs NM_016221.3 NP_057305.1 Q9UJW0 DCTN4_HUMAN dynactin 4 (p62) 175 centrosome|nucleus protein N-terminus binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 10 Medulloblastoma(196;0.167) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAAGCCAGAGGCATATAGTT 0.403 34 36 --- --- --- --- AACSP1 729522 broad.mit.edu 37 5 178208258 178208259 + RNA DEL CA CA - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr5:178208258_178208259delCA ENST00000503486.2 - 0 647 NR_024035.1 ACACCACAGCCACACACTGGCT 0.495 41 22 --- --- --- --- HDAC9 9734 broad.mit.edu 37 7 19015468 19015468 + Frame_Shift_Del DEL G G - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr7:19015468delG ENST00000406451.4 + 25 3203 c.3053delG c.(3052-3054)aggfs p.R1018fs HDAC9_ENST00000441542.2_Frame_Shift_Del_p.R1021fs|HDAC9_ENST00000401921.1_Frame_Shift_Del_p.R977fs NM_178423.1 NP_848510.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCTGTGCCAAGGGGCTGTGCT 0.473 13 46 --- --- --- --- SLCO1A2 6579 broad.mit.edu 37 12 21471747 21471747 + Frame_Shift_Del DEL T T - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:21471747delT ENST00000307378.6 - 4 891 c.171delA c.(169-171)ctafs p.L57fs SLCO1A2_ENST00000537524.1_5'UTR|SLCO1A2_ENST00000473830.1_5'UTR|SLCO1A2_ENST00000390670.3_Frame_Shift_Del_p.L55fs|SLCO1A2_ENST00000452078.1_Frame_Shift_Del_p.L57fs|SLCO1A2_ENST00000458504.1_Intron NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 57 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 TGAATCCAACTAGAGATGTTG 0.328 17 21 --- --- --- --- ATP2A2 488 broad.mit.edu 37 12 110777366 110777366 + Frame_Shift_Del DEL T T - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:110777366delT ENST00000395494.2 + 12 2083 c.1520delT c.(1519-1521)gttfs p.V507fs ATP2A2_ENST00000539276.2_Frame_Shift_Del_p.V534fs|ATP2A2_ENST00000308664.6_Frame_Shift_Del_p.V534fs P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 534 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 AGTACTAAGGTTCCTATGACC 0.473 24 18 --- --- --- --- RILPL1 353116 broad.mit.edu 37 12 123984042 123984042 + Frame_Shift_Del DEL C C - TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr12:123984042delC ENST00000376874.4 - 3 737 c.502delG c.(502-504)gagfs p.E168fs RILPL1_ENST00000340724.6_Frame_Shift_Del_p.E16fs NM_178314.3 NP_847884.2 Q5EBL4 RIPL1_HUMAN Rab interacting lysosomal protein-like 1 168 neuroprotection cytosol endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197) TCCACCACCTCCTTCAGCTTC 0.582 9 51 --- --- --- --- POLI 11201 broad.mit.edu 37 18 51795958 51795960 + In_Frame_Del DEL CGA CGA - rs140689079 TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9e8603c2-04a1-49ba-ad77-4e1b7fe466ff 8e765c17-4490-44d3-95e0-b4f4b99f9513 g.chr18:51795958_51795960delCGA ENST00000579534.1 + 1 185_187 c.42_44delCGA c.(40-45)ggcgac>ggc p.D17del POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000579434.1_5'UTR NM_007195.2 NP_009126.2 Q9UNA4 POLI_HUMAN polymerase (DNA directed) iota 17 DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding p.D17delD(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1) 26 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAGGCGGCGGCGACGACGACGAG 0.729 DNA polymerases (catalytic subunits) 5 2 --- --- --- ---