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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ZNF33B 7582 broad.mit.edu 37 10 43088258 43088258 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr10:43088258C>T uc001jaf.1 - 4 2255 c.2140G>A c.(2140-2142)Gct>Act p.A714T ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.A602T|ZNF33B_uc001jad.3_Intron NM_006955 NP_008886 Q06732 ZN33B_HUMAN Homo sapiens zinc finger protein 33B (ZNF33B), mRNA. 714 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 CCTGTGTGAGCCCTGTGATGT 0.403000 32 40 0 0 0.006999 0 0 C8orf47 203111 broad.mit.edu 37 8 99102126 99102126 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:99102126G>A uc003yih.1 + 1 1029 c.881G>A c.(880-882)gGa>gAa p.G294E C8orf47_uc022ayz.1_Intron NM_173549 NP_775820 Q6P6B1 CH047_HUMAN Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA. 294 Glu-rich. kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GAAGGTCCAGGAAACATGGAG 0.433000 39 11 0 0 0.000978 0 0 RENBP 5973 broad.mit.edu 37 X 153206955 153206955 + Missense_Mutation SNP A C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:153206955A>C uc004fjo.2 - 7 1091 c.921T>G c.(919-921)gaT>gaG p.D307E RENBP_uc011mzh.1_3'UTR NM_002910 NP_002901 P51606 RENBP_HUMAN Homo sapiens renin binding protein (RENBP), mRNA. 307 mannose metabolic process|regulation of blood pressure N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) AGTTATCAGCATCCTGGAAGT 0.582000 95 28 0 0 0.008361 0 0 CROCC 9696 broad.mit.edu 37 1 17256819 17256819 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:17256819C>T uc001azt.2 + 5 729 c.660C>T c.(658-660)atC>atT p.I220I CROCC_uc009voy.1_5'UTR|CROCC_uc009voz.1_5'UTR NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA. 220 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) GCGCCCTCATCCGGCTGGAGG 0.677000 15 6 0 0 0.001984 0 0 DNASE1L1 1774 broad.mit.edu 37 X 153633863 153633863 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:153633863G>A uc004fks.1 - 1 238 c.47C>T c.(46-48)gCc>gTc p.A16V DNASE1L1_uc004fkt.1_Missense_Mutation_p.A16V|DNASE1L1_uc004fku.1_Missense_Mutation_p.A16V|DNASE1L1_uc004fkv.1_Missense_Mutation_p.A16V|DNASE1L1_uc004fkw.1_Missense_Mutation_p.A16V NM_006730 NP_006721 P49184 DNSL1_HUMAN Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA. 16 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters lung(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AAAGGCCTGGGCCCCATTGGC 0.617000 9 4 0 0 0.009096 0 0 KIF16B 55614 broad.mit.edu 37 20 16355048 16355048 + Silent SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr20:16355048T>C uc002wpg.2 - 19 3363 c.3204A>G c.(3202-3204)gaA>gaG p.E1068E KIF16B_uc002wpe.1_Silent_p.E450E|KIF16B_uc002wpf.1_Silent_p.E450E|KIF16B_uc010gch.2_Intron|KIF16B_uc010gci.2_Silent_p.E1068E NM_024704 NP_078980 Q96L93 KI16B_HUMAN Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA. 1068 Glu-rich. Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GGATTTCATATTCTAACCTAC 0.428000 74 35 0 0 0.005524 0 0 RG9MTD1 54931 broad.mit.edu 37 3 101284693 101284693 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:101284693G>A uc003duz.3 + 1 1216 c.1068G>A c.(1066-1068)atG>atA p.M356I RG9MTD1_uc021xbw.1_Missense_Mutation_p.M356I NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN Homo sapiens RNA (guanine-9-) methyltransferase domain containing 1 (RG9MTD1), nuclear gene encoding mitochondrial protein, mRNA. 356 tRNA processing mitochondrion methyltransferase activity|protein binding p.M356I(2) endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 16 TAGATCAAATGATACGTATTT 0.378000 28 8 0 0 0.004482 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48873959 48873959 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:48873959G>A uc002rwp.2 + 7 2982 c.2868G>A c.(2866-2868)caG>caA p.Q956Q STON1-GTF2A1L_uc021vhf.1_Silent_p.Q956Q|STON1-GTF2A1L_uc010yol.2_Silent_p.Q909Q|STON1-GTF2A1L_uc002rws.2_Silent_p.Q252Q|STON1-GTF2A1L_uc010yom.2_Silent_p.Q218Q NM_172311 NP_758515 B7ZL16 B7ZL16_HUMAN Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA. 909 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4) 91 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TTTCTCCACAGGTCTCTCAAA 0.448000 42 9 0 0 0.008291 0 0 FRMPD3 84443 broad.mit.edu 37 X 106845381 106845381 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:106845381C>T uc022cce.1 + 0 1747 c.1379C>T c.(1378-1380)tCg>tTg p.S460L Q5JV73 FRPD3_HUMAN Homo sapiens mRNA for KIAA1817 protein, partial cds. 1404 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 AGTGGTGTTTCGTGCCTGACC 0.617000 61 34 0 0 0.003755 0 0 ZNF536 9745 broad.mit.edu 37 19 31039854 31039854 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:31039854G>A uc002nsu.1 + 3 3466 c.3328G>A c.(3328-3330)Gac>Aac p.D1110N ZNF536_uc010edd.1_Missense_Mutation_p.D1110N NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1110 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CTTCCCATCAGACTTCTACAA 0.557000 42 31 0 0 0.002096 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40259915 40259915 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:40259915G>A uc001zkm.1 + 8 1438 c.1388G>A c.(1387-1389)cGa>cAa p.R463Q EIF2AK4_uc001zkl.3_Missense_Mutation_p.R463Q|EIF2AK4_uc010bbj.1_Missense_Mutation_p.R192Q NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA. 463 Protein kinase 1. translation cytosolic ribosome ATP binding|aminoacyl-tRNA ligase activity|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) GAGCAAACCCGAGTTCGTTTT 0.488000 55 24 0 0 0.003330 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171442 39171442 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr9:39171442G>A uc004abi.3 - 7 1496 c.1257C>T c.(1255-1257)ttC>ttT p.F419F CNTNAP3_uc004abj.3_Silent_p.F419F|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.F419F|CNTNAP3_uc011lqs.1_Silent_p.F419F NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA. 419 Laminin G-like 2. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GAAAGAGGACGAAACTCCCTG 0.483000 35 31 0 0 0.007291 0 0 TTN 7273 broad.mit.edu 37 2 179479461 179479461 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:179479461G>A uc021vsy.1 - 209 41301 c.41076C>T c.(41074-41076)ctC>ctT p.L13692L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Non-coding_Transcript|TTN_uc021vsz.1_Silent_p.L7387L|TTN_uc021vta.1_Silent_p.L7320L|TTN_uc021vtb.1_Silent_p.L7195L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14619 Ig-like 93. 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) GCTTCACATCGAGGAAGATTT 0.408000 20 11 0 0 0.001368 0 0 GLS 2744 broad.mit.edu 37 2 191795258 191795258 + Missense_Mutation SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:191795258G>T uc002usf.2 + 12 1785 c.1521G>T c.(1519-1521)aaG>aaT p.K507N GLS_uc002use.2_Missense_Mutation_p.K507N|GLS_uc002usg.1_Missense_Mutation_p.K168N|GLS_uc002ush.2_Missense_Mutation_p.K168N|GLS_uc010zgi.1_Missense_Mutation_p.K78N|GLS_uc010zgj.1_Missense_Mutation_p.K12N|GLS_uc021vud.1_5'Flank NM_014905 NP_055720 O94925 GLSK_HUMAN Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 507 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CTCTGGATAAGATGGGCAACA 0.398000 43 43 1.00001e-27 1.12281e-27 0.009718 1 0 KCNJ6 3763 broad.mit.edu 37 21 39087108 39087108 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:39087108G>A uc011aej.1 - 2 405 c.352C>T c.(352-354)Cgg>Tgg p.R118W KCNJ6_uc002ywo.2_Missense_Mutation_p.R118W NM_002240 NP_002231 P48051 IRK6_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 6 (KCNJ6), mRNA. 118 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) ATGTCTCCCCGTATGTATGCG 0.453000 83 19 0 0 0.010504 0 0 DKK2 27123 broad.mit.edu 37 4 107845814 107845814 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:107845814G>A uc003hyi.3 - 2 1122 c.417C>T c.(415-417)atC>atT p.I139I DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Silent_p.I139I NM_014421 NP_055236 Q9UBU2 DKK2_HUMAN Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA. 139 Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) CCAGAGCCGGGATGTGAGGGG 0.428000 78 21 0 0 0.002780 0 0 NOXRED1 122945 broad.mit.edu 37 14 77861085 77861085 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:77861085G>A uc001xtr.3 - 5 1136 c.969C>T c.(967-969)ctC>ctT p.L323L NM_001113475 NP_001106946 Q6NXP6 CN148_HUMAN Homo sapiens NADP-dependent oxidoreductase domain containing 1 (NOXRED1), mRNA. 323 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 GACTACTTGAGAGATGCTGGC 0.443000 35 38 0 0 0.007835 0 0 OR2H1 26716 broad.mit.edu 37 6 29430220 29430220 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:29430220G>A uc003nmi.3 + 2 1117 c.674G>A c.(673-675)aGg>aAg p.R225K OR2H1_uc003nmj.1_Missense_Mutation_p.R225K|OR2H1_uc010jri.2_Missense_Mutation_p.R147K|OR2H1_uc021ytr.1_Missense_Mutation_p.R225K NM_030883 NP_112145 Q9GZK4 OR2H1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA. 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 GCAGTGCTGAGGATTAACTCT 0.532000 106 56 0 0 0.003610 0 0 VNN2 8875 broad.mit.edu 37 6 133072552 133072552 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:133072552G>A uc003qdt.3 - 4 943 c.932C>T c.(931-933)tCg>tTg p.S311L VNN2_uc003qds.3_Missense_Mutation_p.S20L|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.S258L NM_004665 NP_004656 O95498 VNN2_HUMAN Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA. 311 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity p.S311S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GTAGGCAAGCGAGGATAGGGG 0.438000 30 40 0 0 0.003214 0 0 VGLL3 389136 broad.mit.edu 37 3 87027686 87027686 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:87027686G>A uc003dqn.3 - 1 757 c.393C>T c.(391-393)ccC>ccT p.P131P NM_016206 NP_057290 A8MV65 VGLL3_HUMAN Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA. 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CTCGCCATAGGGGGGTTAGCC 0.512000 78 23 0 0 0.003954 0 0 SPEG 10290 broad.mit.edu 37 2 220333912 220333912 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:220333912G>A uc010fwg.3 + 12 3526 c.3526G>A c.(3526-3528)Gag>Aag p.E1176K NM_005876 NP_005867 Q15772 SPEG_HUMAN Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA. 1176 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CATTCCCGAGGAGCCAGAGCA 0.662000 20 12 0 0 0.001368 0 0 OR4D6 219983 broad.mit.edu 37 11 59224654 59224654 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:59224654C>T uc010rku.2 + 0 221 c.221C>T c.(220-222)tCa>tTa p.S74L NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA. 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 ATCGTTTTTTCATCTATCACC 0.453000 87 45 0 0 0.009718 0 0 ZNF365 22891 broad.mit.edu 37 10 64136385 64136385 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr10:64136385G>A uc001jmc.2 + 1 748 c.433G>A c.(433-435)Ggt>Agt p.G145S ZNF365_uc001jly.4_Missense_Mutation_p.G160S|ZNF365_uc001jmb.4_Missense_Mutation_p.G145S|ZNF365_uc001jlz.4_Missense_Mutation_p.G145S|ZNF365_uc001jma.4_Intron NM_199451 NP_955523 Q70YC4 TALAN_HUMAN Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA. 204 breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Prostate(12;0.0297)|all_hematologic(501;0.228) GACACGGTCGGGTCCTGGACT 0.537000 21 30 0 0 0.008361 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15326429 15326429 + RNA SNP A T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:15326429A>T uc002yji.2 - 1 c.786T>A Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA. TTTCCATGGGAAGGTCCACGT 0.393000 62 23 0 0 0.007291 0 0 LOC100507433 100507433 broad.mit.edu 37 19 38103185 38103185 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:38103185C>T uc002ogq.3 + 4 1371 c.1004C>T c.(1003-1005)gCt>gTt p.A335V LOC100507433_uc002ogu.3_Missense_Mutation_p.A335V|LOC100507433_uc010efq.3_Missense_Mutation_p.A303V NM_152606 NP_689819 Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA. TGTGGGAAAGCTTTTAGTGTA 0.348000 28 22 0 0 0.003330 0 0 SNX16 64089 broad.mit.edu 37 8 82736160 82736160 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:82736160G>A uc003ycn.3 - 3 739 c.478C>T c.(478-480)Cca>Tca p.P160S SNX16_uc003yco.3_Missense_Mutation_p.P131S|SNX16_uc011lft.2_Missense_Mutation_p.P160S NM_152836 NP_690049 P57768 SNX16_HUMAN Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA. 160 PX. cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 CGAAAACCTGGAAACATCTCT 0.328000 22 9 0 0 0.008291 0 0 PCP4 5121 broad.mit.edu 37 21 41300949 41300949 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:41300949G>A uc002yyp.3 + 2 183 c.102G>A c.(100-102)atG>atA p.M34I NM_006198 NP_006189 P48539 PCP4_HUMAN Homo sapiens Purkinje cell protein 4 (PCP4), mRNA. 34 central nervous system development cytosol|nucleus large_intestine(2)|lung(1)|skin(1) 4 Prostate(19;2.65e-06)|all_epithelial(19;0.138) ACATTGACATGGATGCACCAG 0.463000 48 20 0 0 0.008871 0 0 EMP3 2014 broad.mit.edu 37 19 48833692 48833692 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:48833692G>A uc002piv.2 + 4 711 c.457G>A c.(457-459)Ggc>Agc p.G153S NM_001425 NP_001416 P54852 EMP3_HUMAN Homo sapiens epithelial membrane protein 3 (EMP3), mRNA. 153 cell growth|negative regulation of cell proliferation integral to membrane lung(1) 1 all_epithelial(76;6.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.00989)|Prostate(7;0.0143)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146) CCTGGTCAGCGGCATCATCTA 0.697000 27 24 0 0 0.006320 0 0 KCNK5 8645 broad.mit.edu 37 6 39159037 39159037 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:39159037C>G uc003oon.3 - 4 1493 c.1129G>C c.(1129-1131)Gtg>Ctg p.V377L NM_003740 NP_003731 O95279 KCNK5_HUMAN Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA. 377 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GCCCGTGCCACAGCCTCCTCA 0.612000 40 12 0 0 0.001368 0 0 MAOA 4128 broad.mit.edu 37 X 43571120 43571120 + Splice_Site SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:43571120G>A uc004dfy.3 + 4 488 c.307_splice c.e4-1 p.G103_splice MAOA_uc011mkw.2_Splice_Site NM_000240 NP_000231 P21397 AOFA_HUMAN Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA. 103 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) ATGTTCTAGGGGAAAACATAT 0.363000 112 17 0 0 0.004990 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458414 45458415 + RNA DNP CA AT AT TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr12:45458414_45458415CA>AT uc001rol.3 - 0 c.780_781TG>AT Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. GCTCCTGGTCCAGTATGGCACA 0.520000 10 10 0 0 0.004672 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 120576 120576 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrGL000209.1:120576G>A uc010yie.2 + 3 539 c.528G>A c.(526-528)aaG>aaA p.K176K KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Silent_p.K173K|KIR2DL2_uc002qum.3_Silent_p.K176K NM_014512 NP_055327 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA. 176 Ig-like C2-type 2. regulation of immune response integral to membrane|plasma membrane receptor activity CAGGGACCAAGGTCAACGGAA 0.572000 114 36 0 0 0.004289 0 0 KRT5 3852 broad.mit.edu 37 12 52913597 52913597 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr12:52913597G>A uc001san.3 - 0 647 c.484C>T c.(484-486)Cag>Tag p.Q162* KRT5_uc009zmh.3_Nonsense_Mutation_p.Q162* NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 162 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CTCACCCTCTGGATGCTGGGG 0.532000 39 62 0 0 0.003610 0 0 MEFV 4210 broad.mit.edu 37 16 3306468 3306468 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:3306468G>A uc002cun.1 - 0 160 c.120C>T c.(118-120)atC>atT p.I40I MEFV_uc021tbw.1_Silent_p.I40I|MEFV_uc021tbx.1_5'UTR|MEFV_uc021tby.1_5'UTR|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_5'UTR NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 40 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) GGCTCCGGGGGATCCTGGAGT 0.592000 73 52 0 0 0.003610 0 0 ATP2B3 492 broad.mit.edu 37 X 152815568 152815568 + Silent SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:152815568C>A uc004fht.1 + 9 1773 c.1647C>A c.(1645-1647)ggC>ggA p.G549G ATP2B3_uc004fhs.1_Silent_p.G549G NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA. 549 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCTGCTGGGCTTCGTCTTGG 0.617000 24 9 0.00448238 0.00474169 0.004482 1 0 ARSI 340075 broad.mit.edu 37 5 149676950 149676950 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:149676950G>A uc003lrv.2 - 1 2126 c.1537C>T c.(1537-1539)Cct>Tct p.P513S NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN Homo sapiens arylsulfatase family, member I (ARSI), mRNA. 513 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) TTAAAGTCAGGATGAGCCCGG 0.637000 84 62 0 0 0.003610 0 0 KIAA0195 9772 broad.mit.edu 37 17 73489115 73489115 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:73489115C>T uc010wsa.2 + 14 2240 c.2048C>T c.(2047-2049)tCc>tTc p.S683F KIAA0195_uc002jnz.4_Missense_Mutation_p.S673F|KIAA0195_uc010wsb.2_Missense_Mutation_p.S313F|KIAA0195_uc002job.4_5'Flank NM_014738 NP_055553 Q12767 K0195_HUMAN Homo sapiens KIAA0195 (KIAA0195), mRNA. 673 ATP biosynthetic process|cation transport integral to membrane ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1) 42 all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246) all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) GGGCGGCTCTCCTGTGTCACC 0.612000 58 37 0 0 0.004878 0 0 TTN 7273 broad.mit.edu 37 2 179598554 179598554 + Missense_Mutation SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:179598554G>T uc021vsy.1 - 49 12055 c.11830C>A c.(11830-11832)Caa>Aaa p.Q3944K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q605K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 4871 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) ACAGCAGCTTGCAGGGTAACG 0.413000 74 21 2.89027e-11 3.18926e-11 0.002299 1 0 NUMA1 4926 broad.mit.edu 37 11 71730594 71730594 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:71730594C>G uc001orl.1 - 8 702 c.530G>C c.(529-531)aGg>aCg p.R177T NUMA1_uc001ork.1_Missense_Mutation_p.R177T|NUMA1_uc001orm.1_Missense_Mutation_p.R177T|NUMA1_uc009ysx.1_Missense_Mutation_p.R177T|NUMA1_uc001oro.1_Missense_Mutation_p.R177T|NUMA1_uc009ysy.2_Missense_Mutation_p.R177T|NUMA1_uc001orp.3_Missense_Mutation_p.R177T|NUMA1_uc001orq.3_Missense_Mutation_p.R177T|NUMA1_uc021qmw.1_Missense_Mutation_p.R177T NM_006185 NP_006176 Q14980 NUMA1_HUMAN Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA. 177 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity p.R177K(2) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 GCGAATCTCCCTCTTGGCCTG 0.522000 T RARA APL 184 23 0 0 0.002299 0 0 CTSG 1511 broad.mit.edu 37 14 25043691 25043691 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:25043691G>A uc001wpq.3 - 3 391 c.354C>T c.(352-354)gtC>gtT p.V118V NM_001911 NP_001902 P08311 CATG_HUMAN Homo sapiens cathepsin G (CTSG), mRNA. 118 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) GATTCCGTCTGACTCTTCTGC 0.642000 94 21 0 0 0.001882 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140358562 140358562 + Missense_Mutation SNP A C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:140358562A>C uc003lii.3 + 1 3199 c.2594A>C c.(2593-2595)tAc>tCc p.Y865S PCDHAC2_uc003lha.2_Missense_Mutation_p.Y544S|PCDHAC2_uc003lhb.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhd.2_Missense_Mutation_p.Y806S|PCDHAC2_uc003lhf.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhh.1_Missense_Mutation_p.Y805S|PCDHAC2_uc003lhi.2_Missense_Mutation_p.Y805S|PCDHAC2_uc003lhl.2_Missense_Mutation_p.Y794S|PCDHAC2_uc003lhk.1_Missense_Mutation_p.Y794S|PCDHAC2_uc003lho.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhn.2_Missense_Mutation_p.Y544S|PCDHAC2_uc003lhq.2_Missense_Mutation_p.Y795S|PCDHAC2_uc003lhs.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhu.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lhw.2_Missense_Mutation_p.Y543S|PCDHAC2_uc003lhx.2_Missense_Mutation_p.Y806S|PCDHAC2_uc003lia.2_Missense_Mutation_p.Y807S|PCDHAC2_uc003lic.2_Missense_Mutation_p.Y799S|PCDHAC2_uc003lif.2_Missense_Mutation_p.Y808S|PCDHAC2_uc003lie.1_Missense_Mutation_p.Y808S|PCDHAC2_uc003lih.2_Missense_Mutation_p.Y821S NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 865 4 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACTGGCGTTACTCTGCCTCC 0.458000 63 16 0 0 0.004990 0 0 C15orf54 400360 broad.mit.edu 37 15 39544531 39544531 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:39544531C>T uc001zkg.2 + 1 563 c.195C>T c.(193-195)ttC>ttT p.F65F C15orf54_uc021sjb.1_Silent_p.F65F NM_207445 NP_997328 Q8N8G6 CO054_HUMAN Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA. 65 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) CTCTCAGGTTCCTTTACATCG 0.438000 139 47 0 0 0.003610 0 0 ITGB1BP2 26548 broad.mit.edu 37 X 70523327 70523327 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:70523327C>T uc004dzr.1 + 5 458 c.429C>T c.(427-429)atC>atT p.I143I BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Silent_p.I125I NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA. 143 muscle organ development|signal transduction SH3 domain binding breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1) 14 Renal(35;0.156) ACAGTCTGATCCGGACTGGTT 0.502000 42 14 0 0 0.004990 0 0 F8 2157 broad.mit.edu 37 X 154215575 154215575 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:154215575G>A uc004fmt.3 - 4 778 c.607C>T c.(607-609)Ctg>Ttg p.L203L NM_000132 NP_000123 P00451 FA8_HUMAN Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA. 203 F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TCCTTGGCCAGACTCCCTGAA 0.348000 26 9 0 0 0.006214 0 0 SP140 11262 broad.mit.edu 37 2 231110646 231110646 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:231110646G>A uc002vql.3 + 6 848 c.733G>A c.(733-735)Gat>Aat p.D245N SP140_uc010zma.1_Intron|SP140_uc002vqk.2_Missense_Mutation_p.D245N|SP140_uc002vqn.3_Missense_Mutation_p.D242N|SP140_uc002vqm.3_Intron|SP140_uc010fxl.3_Missense_Mutation_p.D245N NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 245 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACTGCCTTATGATACAGAAGG 0.363000 22 6 0 0 0.001168 0 0 ZNF630 57232 broad.mit.edu 37 X 47918858 47918858 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:47918858C>T uc004div.4 - 4 1225 c.973G>A c.(973-975)Gga>Aga p.G325R ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.G311R|ZNF630_uc022bvs.1_Missense_Mutation_p.G325R NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 AATGCTCTTCCATACTTAGTA 0.438000 43 15 0 0 0.004007 0 0 ACOX3 8310 broad.mit.edu 37 4 8418200 8418200 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:8418200G>A uc010idk.3 - 1 194 c.49C>T c.(49-51)Ccc>Tcc p.P17S ACOX3_uc003glc.4_Missense_Mutation_p.P17S|ACOX3_uc003gld.4_Missense_Mutation_p.P17S NM_003501 NP_003492 O15254 ACOX3_HUMAN Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA. 17 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 GGCCCCCTGGGGAATTCTGGG 0.587000 41 12 0 0 0.000978 0 0 GAS2 2620 broad.mit.edu 37 11 22707235 22707235 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:22707235C>G uc009yie.3 + 2 473 c.167C>G c.(166-168)aCt>aGt p.T56S GAS2_uc001mqm.3_Missense_Mutation_p.T56S|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.T56S NM_001143830 NP_808221 O43903 GAS2_HUMAN Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA. 56 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1) 24 ACAGCAGAAACTTTTATGGAG 0.363000 55 28 0 0 0.009535 0 0 PLCB4 5332 broad.mit.edu 37 20 9449296 9449296 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr20:9449296C>G uc021wam.1 + 31 3306 c.3291C>G c.(3289-3291)atC>atG p.I1097M PLCB4_uc010gbx.3_Missense_Mutation_p.I1109M|PLCB4_uc021wal.1_Missense_Mutation_p.I1097M|PLCB4_uc002wnh.3_Missense_Mutation_p.I944M NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 1097 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ATAAATCTATCAAGAATAAAG 0.388000 87 9 0 0 0.004482 0 0 LGR6 59352 broad.mit.edu 37 1 202288196 202288196 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:202288196G>A uc001gxu.3 + 17 2765 c.2765G>A c.(2764-2766)gGg>gAg p.G922E LGR6_uc001gxv.3_Missense_Mutation_p.G870E|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.G783E NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 922 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 GAGCCAGAGGGGAACCACTTT 0.642000 38 31 0 0 0.009535 0 0 GLI2 2736 broad.mit.edu 37 2 121746991 121746991 + Silent SNP T A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:121746991T>A uc010flp.3 + 12 3531 c.3501T>A c.(3499-3501)ccT>ccA p.P1167P GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.P839P|GLI2_uc002tmu.4_Silent_p.P822P NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 1167 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CACCCTTTCCTCAGGGCAACC 0.627000 13 14 0 0 0.002450 0 0 ADAM18 8749 broad.mit.edu 37 8 39467023 39467023 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:39467023G>A uc003xni.3 + 4 342 c.287G>A c.(286-288)gGa>gAa p.G96E ADAM18_uc003xnh.3_Missense_Mutation_p.G96E|ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.G96E NM_014237 NP_055052 Q9Y3Q7 ADA18_HUMAN Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA. 96 cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) CATTACCAAGGATATGCTGCC 0.328000 20 14 0 0 0.004007 0 0 COL9A2 1298 broad.mit.edu 37 1 40777385 40777385 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:40777385C>T uc001cfh.1 - 8 532 c.420G>A c.(418-420)ggG>ggA p.G140G COL9A2_uc001cfi.1_5'UTR NM_001852 NP_001843 Q14055 CO9A2_HUMAN Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA. 140 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 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;2.08e-17) GTCCAGGGTCCCCCTGGAAGC 0.617000 53 38 0 0 0.004878 0 0 FCRL2 79368 broad.mit.edu 37 1 157745580 157745580 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:157745580C>T uc001fre.2 - 1 96 c.37G>A c.(37-39)Gtc>Atc p.V13I FCRL2_uc010phz.1_Missense_Mutation_p.V13I|FCRL2_uc009wsp.2_Missense_Mutation_p.V13I|FCRL2_uc010pia.1_Missense_Mutation_p.V13I NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Homo sapiens Fc receptor-like 2 (FCRL2), mRNA. 13 cell-cell signaling integral to membrane|plasma membrane|soluble fraction SH3/SH2 adaptor activity|receptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGTTCAGTGACTGCATCTGTG 0.428000 27 13 0 0 0.004007 0 0 ADAMTS17 170691 broad.mit.edu 37 15 100533320 100533320 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:100533320G>A uc002bvv.1 - 19 2961 c.2882C>T c.(2881-2883)cCg>cTg p.P961L NM_139057 NP_620688 Q8TE56 ATS17_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA. 961 TSP type-1 4. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2) 50 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CTCGGCTCTCGGCCTCGTGGA 0.597000 55 39 0 0 0.004878 0 0 COL4A5 1287 broad.mit.edu 37 X 107858227 107858227 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:107858227G>A uc022ccg.1 + 29 2684 c.2482G>A c.(2482-2484)Ggg>Agg p.G828R COL4A5_uc004enz.1_Missense_Mutation_p.G828R|COL4A5_uc004eob.1_Missense_Mutation_p.G436R NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 828 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.P827Q(1)|p.G828D(1)|p.G828G(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AGGACCACCAGGGATTCCTGG 0.433000 Alport syndrome with Diffuse Leiomyomatosis 45 17 0 0 0.007413 0 0 ECE2 9718 broad.mit.edu 37 3 183967668 183967668 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:183967668C>T uc003fni.4 + 0 224 c.186C>T c.(184-186)atC>atT p.I62I ALG3_uc003fne.2_5'Flank|ALG3_uc011brc.1_5'Flank|ALG3_uc011brd.1_5'Flank|ALG3_uc011bre.1_5'Flank|ALG3_uc011brf.1_5'Flank|ECE2_uc003fnh.4_Silent_p.I62I NM_014693 NP_055508 O60344 ECE2_HUMAN Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA. 62 Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing Golgi membrane|cytoplasmic vesicle membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGGACCGTATCCTTGTGCTAG 0.677000 OREG0015944 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 26 0 0 0.007291 0 0 SUGP2 10147 broad.mit.edu 37 19 19135734 19135734 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:19135734G>A uc002nkz.1 - 2 1485 c.1465C>T c.(1465-1467)Ctc>Ttc p.L489F SUGP2_uc002nkx.2_Missense_Mutation_p.L475F|SUGP2_uc002nla.1_Missense_Mutation_p.L475F|SUGP2_uc002nlb.2_Missense_Mutation_p.L475F|SUGP2_uc010xqk.1_Missense_Mutation_p.L244F NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN Homo sapiens SURP and G patch domain containing 2 (SUGP2), transcript variant 2, mRNA. 475 RNA splicing|mRNA processing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 TTCCGGCAGAGAGAGTTGGTG 0.507000 125 101 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47840343 47840343 + Missense_Mutation SNP T A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:47840343T>A uc003tny.2 - 53 8131 c.8097A>T c.(8095-8097)aaA>aaT p.K2699N C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 2699 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 GGAGGCAGTCTTTTTGGCTTC 0.507000 119 5 0 0 0.001168 0 0 MSR1 4481 broad.mit.edu 37 8 16007770 16007770 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:16007770G>A uc010lsu.3 - 6 1067 c.1003C>T c.(1003-1005)Cga>Tga p.R335* MSR1_uc003wwz.3_Nonsense_Mutation_p.R317*|MSR1_uc003wxa.3_Nonsense_Mutation_p.R317*|MSR1_uc003wxb.3_Nonsense_Mutation_p.R317*|MSR1_uc011kxz.2_Nonsense_Mutation_p.R91* NM_138715 NP_619729 P21757 MSRE_HUMAN Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA. 317 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GGGAGTCCTCGACTTCCAGGA 0.358000 38 17 0 0 0.007413 0 0 NR5A2 2494 broad.mit.edu 37 1 200089940 200089940 + Missense_Mutation SNP A G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:200089940A>G uc001gvb.3 + 6 1441 c.1235A>G c.(1234-1236)gAc>gGc p.D412G NR5A2_uc001gvc.3_Missense_Mutation_p.D366G|NR5A2_uc009wzh.3_Missense_Mutation_p.D372G|NR5A2_uc010pph.2_Missense_Mutation_p.D340G NM_205860 NP_995582 O00482 NR5A2_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA. 412 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) TTGCAGGTGGACTATTCCATA 0.413000 27 16 0 0 0.004007 0 0 USP49 25862 broad.mit.edu 37 6 41773651 41773651 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:41773651G>A uc003ori.3 - 3 1293 c.1071C>T c.(1069-1071)ctC>ctT p.L357L NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA. 357 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2) 23 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTTCACGGCAGAGGGAAATGT 0.602000 76 32 0 0 0.003271 0 0 MST1P9 11223 broad.mit.edu 37 1 17084510 17084510 + Silent SNP G A A rs61769731 by1000genomes TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:17084510G>A uc010ock.2 - 11 1588 c.1588C>T c.(1588-1590)Cta>Tta p.L530L CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.L130L Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA. p.L525L(2)|p.L530L(2) breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1) 34 ACCCGCTGTAGGCCTGGCTCT 0.577000 88 14 0 0 0.001855 0 0 HEG1 57493 broad.mit.edu 37 3 124720797 124720797 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:124720797G>A uc011bke.2 - 11 3784 c.3716C>T c.(3715-3717)aCg>aTg p.T1239M HEG1_uc003ehr.4_5'UTR|HEG1_uc003ehs.4_Missense_Mutation_p.T1139M NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA. 1139 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 GTCAAATAGCGTCACATTGGA 0.498000 23 11 0 0 0.000978 0 0 PAPLN 89932 broad.mit.edu 37 14 73727416 73727416 + Splice_Site SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:73727416G>A uc010ttx.2 + 16 2149 c.1986_splice c.e16-1 p.R662_splice PAPLN_uc001xnw.4_Splice_Site_p.R635_splice|PAPLN_uc010arl.3_Splice_Site|PAPLN_uc010ttw.2_Splice_Site|PAPLN_uc010tty.2_Splice_Site_p.R662_splice|PAPLN_uc010arm.3_5'Flank|PAPLN_uc010arn.3_5'Flank NM_173462 NP_775733 O95428 PPN_HUMAN Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA. 662 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) TGTCTGCCTAGGTACGGGTGC 0.667000 40 23 0 0 0.002780 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117444 117444 + RNA SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrGL000205.1:117444G>T uc002kgk.4 + 0 c.822G>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. CCCTCACCAGGGAAGACCTGG 0.557000 37 11 5.50884e-06 5.95885e-06 0.001368 1 0 C4orf37 285555 broad.mit.edu 37 4 99064228 99064228 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:99064228G>A uc003htt.2 - 0 164 c.74C>T c.(73-75)tCc>tTc p.S25F NM_174952 NP_777612 Q8N412 CD037_HUMAN Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA. 25 cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1) 25 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) TACCTGGTAGGATCCAGGACC 0.597000 OREG0016268 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 12 0 0 0.001368 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 30 186 0 0 0.003610 0 0 GMEB2 26205 broad.mit.edu 37 20 62221685 62221685 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr20:62221685G>A uc002yfp.1 - 8 1829 c.1350C>T c.(1348-1350)gaC>gaT p.D450D GMEB2_uc002yfo.1_Silent_p.D372D|GMEB2_uc002yfq.1_Silent_p.D450D NM_012384 NP_036516 Q9UKD1 GMEB2_HUMAN Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA. 450 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GGCTGGACGCGTCCGGGTGGA 0.697000 28 5 0 0 0.000602 0 0 OR5B17 219965 broad.mit.edu 37 11 58125658 58125658 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:58125658C>T uc010rke.2 - 0 885 c.885G>A c.(883-885)gtG>gtA p.V295V NM_001005489 NP_001005489 Q8NGF7 OR5BH_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA. 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D294Y(1) NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATGCATTCTTCACGTCTTTGT 0.373000 65 52 0 0 0.003610 0 0 FAF1 11124 broad.mit.edu 37 1 51204578 51204578 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:51204578G>A uc001cse.1 - 5 961 c.508C>T c.(508-510)Ctt>Ttt p.L170F FAF1_uc009vyw.1_Non-coding_Transcript NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA. 170 apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity p.0?(2) breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TCTGGTGTAAGGACATAAAGA 0.343000 23 7 0 0 0.004482 0 0 SGOL2 151246 broad.mit.edu 37 2 201436531 201436531 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:201436531C>T uc002uvw.2 + 6 1575 c.1462C>T c.(1462-1464)Ctg>Ttg p.L488L SGOL2_uc010zhd.1_Silent_p.L488L|SGOL2_uc010zhe.1_Silent_p.L488L NM_152524 NP_689737 Q562F6 SGOL2_HUMAN Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA. 488 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AGAAAATGTACTGTGTAATAA 0.368000 92 73 0 0 0.003610 0 0 ACOT11 26027 broad.mit.edu 37 1 55062987 55062987 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:55062987G>A uc001cxm.2 + 6 839 c.663G>A c.(661-663)gaG>gaA p.E221E ACOT11_uc001cxj.2_Silent_p.E99E|ACOT11_uc001cxk.3_Silent_p.E187E|ACOT11_uc001cxl.2_Silent_p.E221E NM_015547 NP_056362 Q8WXI4 ACO11_HUMAN Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA. 221 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CCCGTGTGGAGAGTGTGGAGC 0.602000 19 20 0 0 0.008871 0 0 THSD7B 80731 broad.mit.edu 37 2 137872745 137872745 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:137872745C>T uc002tva.1 + 3 1158 c.1158C>T c.(1156-1158)ctC>ctT p.L386L THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.L276L NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. 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) CTCTCCTCCTCGAGCAGCAGG 0.512000 32 12 0 0 0.001855 0 0 LOC100124692 100124692 broad.mit.edu 37 7 141896582 141896582 + RNA SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:141896582C>T uc003vxa.2 + 12 c.1518C>T Homo sapiens maltase-glucoamylase (alpha-glucosidase) pseudogene (LOC100124692), non-coding RNA. GCATTTTATCCATTTTCCAGA 0.458000 24 5 0 0 0.001168 0 0 MRPS11 64963 broad.mit.edu 37 15 89015874 89015874 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:89015874C>T uc002bml.3 + 2 464 c.199C>T c.(199-201)Cca>Tca p.P67S MRPS11_uc002bmm.3_Intron|MRPS11_uc002bmn.3_Missense_Mutation_p.P66S|MRPS11_uc010bnj.3_Non-coding_Transcript NM_022839 NP_073750 P82912 RT11_HUMAN Homo sapiens mitochondrial ribosomal protein S11 (MRPS11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 67 DNA damage response, detection of DNA damage|translation mitochondrial small ribosomal subunit structural constituent of ribosome large_intestine(3) 3 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) CCCTCCCATTCCAGGAGAGGA 0.373000 33 8 0 0 0.008291 0 0 SERPINI1 5274 broad.mit.edu 37 3 167506979 167506979 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:167506979C>T uc003ffa.4 + 1 261 c.63C>T c.(61-63)ttC>ttT p.F21F SERPINI1_uc003ffb.4_Silent_p.F21F NM_001122752 NP_005016 Q99574 NEUS_HUMAN Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA. 21 central nervous system development|peripheral nervous system development|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2) 20 GGGCCACTTTCCCTGAGGAAG 0.408000 32 31 0 0 0.002096 0 0 ZNF160 90338 broad.mit.edu 37 19 53572054 53572054 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:53572054G>A uc010eqk.3 - 6 2149 c.1733C>T c.(1732-1734)tCa>tTa p.S578L ZNF160_uc002qaq.4_Missense_Mutation_p.S578L|ZNF160_uc002qar.4_Missense_Mutation_p.S578L NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 578 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TGCAAGTTGTGATGTTTGAGC 0.403000 53 33 0 0 0.004878 0 0 CCDC116 164592 broad.mit.edu 37 22 21989511 21989511 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr22:21989511C>T uc002zve.3 + 3 1252 c.1159C>T c.(1159-1161)Ccc>Tcc p.P387S CCDC116_uc011aih.1_Missense_Mutation_p.P387S NM_152612 NP_689825 Q8IYX3 CC116_HUMAN Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA. 387 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) AGGAGGCTCCCCCTCCATGTC 0.607000 21 7 0 0 0.003080 0 0 DNAH5 1767 broad.mit.edu 37 5 13864629 13864629 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:13864629C>T uc003jfd.2 - 27 4515 c.4473G>A c.(4471-4473)atG>atA p.M1491I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1491 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCCGCTCCATCATGGCTTTAC 0.502000 Kartagener syndrome 36 8 0 0 0.003080 0 0 B3GAT3 26229 broad.mit.edu 37 11 62384138 62384138 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:62384138G>A uc001ntw.3 - 3 977 c.749C>T c.(748-750)cCt>cTt p.P250L B3GAT3_uc001ntx.3_Non-coding_Transcript|B3GAT3_uc009ynz.3_Missense_Mutation_p.P243L|B3GAT3_uc010rlz.2_Missense_Mutation_p.P250L NM_012200 NP_036332 O94766 B3GA3_HUMAN Homo sapiens beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) (B3GAT3), mRNA. 250 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 CATATCCACAGGGAAGGGCCT 0.642000 31 27 0 0 0.006320 0 0 KCNN3 3782 broad.mit.edu 37 1 154698427 154698427 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:154698427G>A uc021pah.1 - 5 2025 c.1711C>T c.(1711-1713)Cat>Tat p.H571Y KCNN3_uc001ffo.3_Missense_Mutation_p.H251Y|KCNN3_uc001ffp.3_Missense_Mutation_p.H556Y NM_001204087 NP_001191016 Q9UGI6 KCNN3_HUMAN Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA. 561 Calmodulin-binding (By similarity). integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) ATGAAGTTATGAACGTGCTTC 0.567000 16 17 0 0 0.007413 0 0 GSTCD 79807 broad.mit.edu 37 4 106640672 106640672 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:106640672C>T uc003hxz.4 + 2 954 c.882C>T c.(880-882)atC>atT p.I294I GSTCD_uc003hxx.2_Silent_p.I294I|GSTCD_uc003hxy.4_Silent_p.I207I|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Silent_p.I294I NM_001031720 NP_001026890 Q8NEC7 GSTCD_HUMAN Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA. 294 GST C-terminal. cytoplasm rRNA methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 14 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139) TGCCCTGTATCCATCATTTCT 0.403000 30 33 0 0 0.003271 0 0 SDAD1 55153 broad.mit.edu 37 4 76877281 76877281 + Missense_Mutation SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:76877281C>A uc003hje.4 - 20 1982 c.1863G>T c.(1861-1863)aaG>aaT p.K621N SDAD1_uc003hjf.4_Missense_Mutation_p.K524N|SDAD1_uc011cbr.2_Missense_Mutation_p.K584N NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA. 621 protein transport|ribosomal large subunit biogenesis nucleolus protein binding p.G620A(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TTCGGTCTGTCTTTCCAGCCT 0.348000 74 18 4.96729e-08 5.41886e-08 0.008871 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28338578 28338578 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:28338578G>A uc002ymg.3 - 0 862 c.133C>T c.(133-135)Cgg>Tgg p.R45W NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA. 45 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding p.R44H(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CCCTGCCGCCGGCGGGGCTGG 0.766000 11 7 0 0 0.001984 0 0 LOC341056 341056 broad.mit.edu 37 11 122888594 122888594 + RNA SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:122888594C>T uc010rzt.2 + 0 c.321C>T Homo sapiens SUMO1 activating enzyme subunit 1 pseudogene (LOC341056), non-coding RNA. GTTCTTGATTCGTATTGGGTC 0.478000 85 40 0 0 0.004878 0 0 ZNF578 147660 broad.mit.edu 37 19 53014785 53014785 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:53014785C>T uc002pzp.4 + 5 1395 c.1151C>T c.(1150-1152)tCa>tTa p.S384L NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN Homo sapiens zinc finger protein 578 (ZNF578), mRNA. 159 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) GGTCAAAATTCAACCCTTGTA 0.378000 45 22 0 0 0.001882 0 0 UBE2O 63893 broad.mit.edu 37 17 74387350 74387350 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:74387350G>A uc002jrm.4 - 17 3618 c.3553C>T c.(3553-3555)Cct>Tct p.P1185S UBE2O_uc002jrl.4_Missense_Mutation_p.P789S NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA. 1185 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 CCATCCTCAGGTTCTTGTTGG 0.682000 77 35 0 0 0.003755 0 0 TM9SF2 9375 broad.mit.edu 37 13 100207827 100207827 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr13:100207827C>T uc001voj.1 + 14 1811 c.1678C>T c.(1678-1680)Ctg>Ttg p.L560L TM9SF2_uc010afz.1_Silent_p.L395L NM_004800 NP_004791 Q99805 TM9S2_HUMAN Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA. 560 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) CTTCCTATTTCTGGTGTTTAT 0.333000 39 20 0 0 0.002780 0 0 MID1IP1 58526 broad.mit.edu 37 X 38664492 38664492 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:38664492G>A uc022buw.1 + 0 293 c.293G>A c.(292-294)cGc>cAc p.R98H MID1IP1_uc004dei.4_Missense_Mutation_p.R98H|MID1IP1_uc010ngz.3_Missense_Mutation_p.R98H|MID1IP1_uc004dej.4_Missense_Mutation_p.R98H NM_021242 NP_067065 Q9NPA3 M1IP1_HUMAN Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA. 98 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 AAGTCCATCCGCAACGACATC 0.657000 81 15 0 0 0.004007 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751421 19751421 + Silent SNP G A A rs142245280 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr13:19751421G>A uc009zzj.3 - 3 807 c.702C>T c.(700-702)atC>atT p.I234I NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 234 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGAGGACACGATCTGCCCAA 0.567000 84 37 0 0 0.004878 0 0 CLCN2 1181 broad.mit.edu 37 3 184070900 184070900 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:184070900C>T uc003foi.3 - 17 2188 c.2064G>A c.(2062-2064)cgG>cgA p.R688R CLCN2_uc003foh.3_Silent_p.R212R|CLCN2_uc010hya.2_Silent_p.R671R|CLCN2_uc011brl.2_Silent_p.R688R|CLCN2_uc011brm.2_Silent_p.R644R NM_004366 NP_004357 P51788 CLCN2_HUMAN Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA. 688 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) GGGTCTCCCCCCGGGCTGCTG 0.617000 107 76 0 0 0.003610 0 0 TPO 7173 broad.mit.edu 37 2 1507809 1507809 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:1507809G>A uc002qwr.3 + 13 2562 c.2476G>A c.(2476-2478)Gcg>Acg p.A826T TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.A826T|TPO_uc002qwx.3_Missense_Mutation_p.A769T|TPO_uc002qwu.3_Missense_Mutation_p.A769T|TPO_uc010yio.2_Missense_Mutation_p.A653T|TPO_uc010yip.2_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 826 EGF-like; calcium-binding (Potential). 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 p.A826T(4) 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) GTGTCTCTGCGCGGACCCCTA 0.577000 37 19 0 0 0.008871 0 0 OR3A3 8392 broad.mit.edu 37 17 3324755 3324755 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:3324755C>T uc010vrd.2 + 0 894 c.894C>T c.(892-894)atC>atT p.I298I NM_012373 NP_036505 P47888 OR3A3_HUMAN Homo sapiens olfactory receptor, family 3, subfamily A, member 3 (OR3A3), mRNA. 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 ACCCACTTATCTACAGCCTCA 0.498000 70 33 0 0 0.003755 0 0 BDP1 55814 broad.mit.edu 37 5 70806692 70806692 + Missense_Mutation SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:70806692G>T uc003kbp.1 + 16 4036 c.3773G>T c.(3772-3774)gGa>gTa p.G1258V BDP1_uc003kbn.1_Missense_Mutation_p.G1258V|BDP1_uc003kbo.3_Missense_Mutation_p.G1258V NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1258 9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding 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) AAAGAAACTGGAAAAAGAGAC 0.358000 157 32 9.8876e-21 1.10695e-20 0.004878 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3682274 3682274 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr20:3682274G>A uc002wja.3 - 5 1243 c.1243C>T c.(1243-1245)Cca>Tca p.P415S SIGLEC1_uc002wiz.4_Missense_Mutation_p.P415S NM_023068 NP_075556 Q9BZZ2 SN_HUMAN Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA. 415 Ig-like C2-type 4. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 GTCAGGACTGGAGTGAGAGGC 0.617000 21 19 0 0 0.007413 0 0 ARHGAP11A 9824 broad.mit.edu 37 15 32926163 32926163 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:32926163C>T uc001zgy.1 + 9 1987 c.1265C>T c.(1264-1266)tCt>tTt p.S422F ARHGAP11A_uc010ubw.1_Missense_Mutation_p.S233F|ARHGAP11A_uc001zgw.3_Missense_Mutation_p.S422F|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.S233F NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA. 422 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) GGCTGCTTTTCTCCTAAAATC 0.333000 9 12 0 0 0.001855 0 0 PDXDC1 23042 broad.mit.edu 37 16 15125745 15125745 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:15125745C>G uc002dda.4 + 16 1777 c.1553C>G c.(1552-1554)tCt>tGt p.S518C PDXDC1_uc010uzl.2_Missense_Mutation_p.S503C|PDXDC1_uc010uzm.2_Missense_Mutation_p.S427C|PDXDC1_uc002ddb.4_Missense_Mutation_p.S491C|PDXDC1_uc010uzn.2_Missense_Mutation_p.S490C|PDXDC1_uc002ddc.3_Intron NM_015027 NP_055842 Q6P996 PDXD1_HUMAN Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA. 518 carboxylic acid metabolic process carboxy-lyase activity|protein binding|pyridoxal phosphate binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) CCTAACTGGTCTGGAATAGGG 0.473000 10 4 0 0 0.009096 0 0 NPHP1 4867 broad.mit.edu 37 2 110904336 110904336 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:110904336G>A uc002tfn.4 - 13 1605 c.1511C>T c.(1510-1512)cCa>cTa p.P504L NPHP1_uc002tfm.4_Missense_Mutation_p.P449L|NPHP1_uc002tfl.4_Missense_Mutation_p.P505L|NPHP1_uc002tfo.4_Missense_Mutation_p.P386L|NPHP1_uc010ywx.2_Missense_Mutation_p.P448L|NPHP1_uc010fjv.1_Missense_Mutation_p.P448L NM_207181 NP_997064 O15259 NPHP1_HUMAN Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA. 504 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 TTACTTTGCTGGAATAGGAAC 0.368000 54 10 0 0 0.008291 0 0 PDZD4 57595 broad.mit.edu 37 X 153069986 153069986 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:153069986G>A uc004fja.1 - 7 1400 c.1150C>T c.(1150-1152)Ccc>Tcc p.P384S PDZD4_uc004fiy.1_Missense_Mutation_p.P303S|PDZD4_uc004fiz.1_Missense_Mutation_p.P378S|PDZD4_uc004fix.2_Missense_Mutation_p.P282S|PDZD4_uc011mze.1_Missense_Mutation_p.P269S|PDZD4_uc022chy.1_5'Flank NM_032512 NP_115901 Q76G19 PDZD4_HUMAN Homo sapiens PDZ domain containing 4 (PDZD4), mRNA. 378 cell cortex breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1) 23 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GAGGCCCGGGGAAAGAGGAGG 0.642000 30 7 0 0 0.004482 0 0 FHDC1 85462 broad.mit.edu 37 4 153895901 153895901 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:153895901C>T uc003inf.2 + 10 1533 c.1458C>T c.(1456-1458)tcC>tcT p.S486S NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 486 actin cytoskeleton organization actin binding 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) AGCAGCGCTCCTGGGCAACTG 0.632000 43 13 0 0 0.003163 0 0 PPEF2 5470 broad.mit.edu 37 4 76788487 76788487 + Nonsense_Mutation SNP T A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:76788487T>A uc003hix.3 - 13 2092 c.1735A>T c.(1735-1737)Aag>Tag p.K579* PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Nonsense_Mutation_p.K579* NM_006239 NP_006230 O14830 PPE2_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA. 579 EF-hand 1. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCATCATGCTTCTTAAATTCA 0.428000 33 6 0 0 0.001984 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140223009 140223009 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:140223009C>T uc003lhs.2 + 0 2103 c.2103C>T c.(2101-2103)atC>atT p.I701I PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.I701I NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 709 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.I701I(2) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTACCTGATCATCGCCATCT 0.662000 78 35 0 0 0.004878 0 0 CIITA 4261 broad.mit.edu 37 16 10997624 10997624 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:10997624G>A uc002daj.4 + 8 945 c.812G>A c.(811-813)aGt>aAt p.S271N CIITA_uc002dai.4_Missense_Mutation_p.S270N|CIITA_uc002dak.4_Missense_Mutation_p.S221N|CIITA_uc002dag.2_Missense_Mutation_p.S270N|CIITA_uc002dah.2_Missense_Mutation_p.S222N|CIITA_uc010bup.1_Missense_Mutation_p.S270N NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 270 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CCCCCTCCCAGTGGATTCACT 0.592000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 43 40 0 0 0.007835 0 0 SERPINB7 8710 broad.mit.edu 37 18 61459658 61459658 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr18:61459658G>A uc002ljl.3 + 2 296 c.200G>A c.(199-201)gGa>gAa p.G67E SERPINB7_uc002ljm.3_Missense_Mutation_p.G67E|SERPINB7_uc010xet.2_Intron|SERPINB7_uc010dqg.3_Missense_Mutation_p.G67E NM_001040147 NP_003775 O75635 SPB7_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA. 67 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3) 27 Esophageal squamous(42;0.129) TCAGGATATGGAAACTCTTCT 0.408000 50 10 0 0 0.006214 0 0 PER1 5187 broad.mit.edu 37 17 8049412 8049412 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:8049412C>T uc002gkd.3 - 16 2320 c.2082G>A c.(2080-2082)cgG>cgA p.R694R PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.R678R NM_002616 NP_002607 O15534 PER1_HUMAN Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA. 694 CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 CTGGCTCCTTCCGTGGGGTGG 0.647000 T ETV6 """AML, CMML""" Other conserved DNA damage response genes 64 22 0 0 0.002299 0 0 ZDHHC5 25921 broad.mit.edu 37 11 57450009 57450009 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:57450009C>T uc001nkx.1 + 2 1476 c.220C>T c.(220-222)Cct>Tct p.P74S ZDHHC5_uc001nky.1_Missense_Mutation_p.P21S|ZDHHC5_uc001nkz.1_5'UTR NM_015457 NP_056272 Q9C0B5 ZDHC5_HUMAN Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA. 74 integral to membrane acyltransferase activity|zinc ion binding endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1) 18 AGGGATTTTCCCTCGAGGTAA 0.463000 42 25 0 0 0.006320 0 0 NCK2 8440 broad.mit.edu 37 2 106498299 106498299 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:106498299C>T uc002tdg.3 + 3 1018 c.742C>T c.(742-744)Ccc>Tcc p.P248S NCK2_uc002tdh.3_Intron|NCK2_uc002tdi.3_Missense_Mutation_p.P248S NM_003581 NP_003572 O43639 NCK2_HUMAN Homo sapiens NCK adaptor protein 2 (NCK2), transcript variant 1, mRNA. 248 SH3 3. T cell activation|axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GGGCCTCGTCCCCAAAAACTA 0.637000 49 21 0 0 0.002299 0 0 USP40 55230 broad.mit.edu 37 2 234465632 234465632 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:234465632G>A uc010zmr.2 - 3 451 c.451C>T c.(451-453)Cga>Tga p.R151* USP40_uc010zmu.1_Nonsense_Mutation_p.R139* NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 139 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) AAGAGGATTCGATTCAGTTCC 0.388000 27 21 0 0 0.002299 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12883398 12883398 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:12883398C>G uc002gnr.4 + 18 2114 c.1787C>G c.(1786-1788)tCt>tGt p.S596C ARHGAP44_uc010vvk.2_Missense_Mutation_p.S596C|ARHGAP44_uc010vvl.2_Missense_Mutation_p.S590C|ARHGAP44_uc002gns.4_Missense_Mutation_p.S390C|ARHGAP44_uc010vvm.2_Missense_Mutation_p.S590C|ARHGAP44_uc010vvn.2_Intron NM_014859 NP_055674 Q17R89 RHG44_HUMAN Homo sapiens Rho GTPase activating protein 44 (ARHGAP44), mRNA. 596 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 AAGGAACTTTCTCCAGGCTCT 0.582000 40 10 0 0 0.008291 0 0 MAP4K3 8491 broad.mit.edu 37 2 39542498 39542498 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:39542498G>A uc002rro.3 - 12 1041 c.950C>T c.(949-951)tCa>tTa p.S317L MAP4K3_uc002rrp.3_Missense_Mutation_p.S317L|MAP4K3_uc010yns.2_5'UTR NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA. 317 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TCTACTTGTTGAGTGAATTCT 0.313000 23 12 0 0 0.001855 0 0 TTLL6 284076 broad.mit.edu 37 17 46867331 46867331 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:46867331C>T uc021tzm.1 - 9 1397 c.1362G>A c.(1360-1362)cgG>cgA p.R454R TTLL6_uc002iob.3_Silent_p.R147R|TTLL6_uc010dbi.3_Non-coding_Transcript|TTLL6_uc002ioc.3_Silent_p.R207R|TTLL6_uc002iod.3_Silent_p.R301R NM_001130918 NP_001124390 Q8N841 TTLL6_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 6 (TTLL6), transcript variant 1, mRNA. 406 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GGAACTGCCCCCGTTGTCTCT 0.522000 37 22 0 0 0.001882 0 0 SESN2 83667 broad.mit.edu 37 1 28605701 28605701 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:28605701C>T uc001bps.3 + 8 1701 c.1305C>T c.(1303-1305)acC>acT p.T435T NM_031459 NP_113647 P58004 SESN2_HUMAN Homo sapiens sestrin 2 (SESN2), mRNA. 435 cell cycle arrest cytoplasm|nucleus cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649) CAGAGAAGACCACCCGAAGAA 0.522000 51 19 0 0 0.008871 0 0 USP26 83844 broad.mit.edu 37 X 132160351 132160351 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:132160351G>A uc011mvf.2 - 0 1950 c.1898C>T c.(1897-1899)tCt>tTt p.S633F USP26_uc010nrm.1_Missense_Mutation_p.S633F NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 633 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) ATTTGGTTTAGAATTTTTTCC 0.398000 28 6 0 0 0.001168 0 0 ABL1 25 broad.mit.edu 37 9 133759737 133759737 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr9:133759737G>A uc004bzw.3 + 10 2063 c.2060G>A c.(2059-2061)tGg>tAg p.W687* ABL1_uc004bzv.3_Nonsense_Mutation_p.W706* NM_005157 NP_005148 P00519 ABL1_HUMAN Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA. 687 DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|SH3 domain binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 1195 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CCCCACCTGTGGAAGAAGTCC 0.692000 """T, Mis""" """BCR, ETV6, NUP214""" """CML, ALL, T-ALL""" 10 13 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179544088 179544088 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:179544088C>T uc021vsy.1 - 138 30213 c.29988G>A c.(29986-29988)aaG>aaA p.K9996K TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.K6657K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 10923 Glu-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) GAGGCTTCTCCTTTTTAGGAA 0.398000 51 19 0 0 0.008871 0 0 ZNF212 7988 broad.mit.edu 37 7 148951046 148951046 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:148951046C>G uc003wfp.3 + 4 1156 c.1028C>G c.(1027-1029)tCt>tGt p.S343C NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GGGTGGGGGTCTTGTACACCT 0.577000 45 14 0 0 0.001855 0 0 TOP3A 7156 broad.mit.edu 37 17 18178138 18178138 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:18178138G>A uc002gsx.1 - 18 3213 c.2984C>T c.(2983-2985)cCc>cTc p.P995L TOP3A_uc010cpz.1_Missense_Mutation_p.P447L|TOP3A_uc010vxr.1_Missense_Mutation_p.P525L|TOP3A_uc002gsw.1_Missense_Mutation_p.P447L|TOP3A_uc010vxs.1_Missense_Mutation_p.P893L NM_004618 NP_004609 Q13472 TOP3A_HUMAN Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA. 995 DNA topological change|meiosis PML body|chromosome ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1) 36 AGGACAAAAGGGACGGGTGTG 0.542000 78 31 0 0 0.003271 0 0 EPHA7 2045 broad.mit.edu 37 6 93956618 93956618 + Missense_Mutation SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:93956618C>A uc003poe.3 - 14 2859 c.2618G>T c.(2617-2619)tGg>tTg p.W873L EPHA7_uc003pof.3_Missense_Mutation_p.W868L|EPHA7_uc011eac.2_Missense_Mutation_p.W869L NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 873 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTCCTTTTGCCAACAATCCAA 0.428000 22 34 1.62565e-12 1.80419e-12 0.002445 1 0 C4orf19 55286 broad.mit.edu 37 4 37592072 37592072 + Missense_Mutation SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:37592072C>A uc003gsw.4 + 3 578 c.395C>A c.(394-396)cCa>cAa p.P132Q C4orf19_uc003gsy.4_Missense_Mutation_p.P132Q NM_001104629 NP_060772 Q8IY42 CD019_HUMAN Homo sapiens chromosome 4 open reading frame 19 (C4orf19), transcript variant 1, mRNA. 132 large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1) 9 ACTGTTCCCCCAACTCAACCC 0.597000 42 38 1.67305e-13 1.86217e-13 0.006230 1 0 DLEC1 9940 broad.mit.edu 37 3 38138146 38138146 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:38138146C>T uc003chp.1 + 14 2279 c.2258C>T c.(2257-2259)cCt>cTt p.P753L DLEC1_uc003cho.1_Missense_Mutation_p.P753L|DLEC1_uc010hgv.1_Missense_Mutation_p.P753L|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 753 negative regulation of cell proliferation cytoplasm p.E752K(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) TCAGTAGAACCTTTCCAGGTT 0.483000 89 36 0 0 0.004289 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213788 42213788 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:42213788G>A uc002orl.3 + 1 375 c.254G>A c.(253-255)gGa>gAa p.G85E CEACAM5_uc010ehz.1_Missense_Mutation_p.G85E|CEACAM5_uc002orj.1_Missense_Mutation_p.G85E NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 85 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TATGTAATAGGAACTCAACAA 0.468000 67 28 0 0 0.007835 0 0 ZNF43 7594 broad.mit.edu 37 19 22000695 22000696 + Missense_Mutation DNP GG AA AA TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:22000695_22000696GG>AA uc002nqj.3 - 2 353_354 c.223_224CC>TT c.(223-225)ccc>TTc p.P75F ZNF43_uc002nql.3_Missense_Mutation_p.P69F|ZNF43_uc002nqm.3_Missense_Mutation_p.P69F|ZNF43_uc010ecv.3_Missense_Mutation_p.P69F|ZNF43_uc002nqk.3_Missense_Mutation_p.P5F NM_003423 NP_003414 P17038 ZNF43_HUMAN Homo sapiens zinc finger protein 43 (ZNF43), mRNA. 75 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P75R(2) 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) CCTACCTGGGGGTTTGGCTACC 0.465000 102 32 0 0 0.004672 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581472 140581472 + Missense_Mutation SNP G C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:140581472G>C uc003liy.3 + 0 2125 c.2125G>C c.(2125-2127)Gtg>Ctg p.V709L NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN Homo sapiens protocadherin beta 11 (PCDHB11), mRNA. 709 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCCTGTTCGTGGCGGTGCG 0.687000 156 20 0 0 0.002299 0 0 ABCD2 225 broad.mit.edu 37 12 39967592 39967592 + Silent SNP G A A rs56388075 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr12:39967592G>A uc001rmb.2 - 8 2355 c.1929C>T c.(1927-1929)gtC>gtT p.V643V NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA. 643 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 TCTTTCCTTCGACATCAATGC 0.358000 23 41 0 0 0.002852 0 0 OR10G4 390264 broad.mit.edu 37 11 123886915 123886915 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:123886915C>T uc010sac.2 + 0 634 c.634C>T c.(634-636)Ctg>Ttg p.L212L NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA. 212 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 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) CTGCTTTGTCCTGATAGTGCT 0.562000 159 22 0 0 0.001882 0 0 PADI4 23569 broad.mit.edu 37 1 17657557 17657557 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:17657557C>T uc001baj.2 + 1 214 c.186C>T c.(184-186)tcC>tcT p.S62S PADI4_uc009vpc.2_Silent_p.S62S NM_012387 NP_036519 Q9UM07 PADI4_HUMAN Homo sapiens peptidyl arginine deiminase, type IV (PADI4), mRNA. 62 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3) 26 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) AGAAGAAATCCACAGGTTCCT 0.602000 29 27 0 0 0.008361 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651807 84651807 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:84651807G>A uc002bjz.4 + 20 3651 c.3427G>A c.(3427-3429)Gaa>Aaa p.E1143K ADAMTSL3_uc010bmt.1_Missense_Mutation_p.E1143K NM_207517 NP_997400 P82987 ATL3_HUMAN Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA. 1143 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGCATCCAGGAAGAGACACC 0.557000 27 10 0 0 0.000978 0 0 ERCC2 2068 broad.mit.edu 37 19 45855574 45855574 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:45855574G>A uc002pbj.2 - 21 2130 c.2083C>T c.(2083-2085)Cgc>Tgc p.R695C ERCC2_uc002pbh.2_Missense_Mutation_p.R258C|ERCC2_uc002pbi.2_Missense_Mutation_p.R388C|ERCC2_uc010ejz.2_Missense_Mutation_p.R617C|ERCC2_uc002pbk.2_Missense_Mutation_p.R671C NM_000400 NP_000391 P18074 ERCC2_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 1, mRNA. 695 UV protection|cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction MMXD complex|cytoplasm|holo TFIIH complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TGGATCCAGCGGGGCAGCTTC 0.652000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 40 20 0 0 0.002299 0 0 CHD2 1106 broad.mit.edu 37 15 93521462 93521462 + Splice_Site SNP A G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:93521462A>G uc002bsp.3 + 21 3153 c.2578_splice c.e21-2 p.D860_splice CHD2_uc002bso.1_Splice_Site_p.D860_splice|CHD2_uc010bog.1_Missense_Mutation_p.R133G|CHD2_uc010boh.1_Splice_Site_p.D54_splice NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 860 Helicase C-terminal. 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) CATTGTGTACAGGACTTCTGT 0.493000 43 31 0 0 0.002445 0 0 MVP 9961 broad.mit.edu 37 16 29859194 29859194 + Nonsense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:29859194C>T uc002dui.3 + 14 2718 c.2566C>T c.(2566-2568)Cag>Tag p.Q856* BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Nonsense_Mutation_p.Q856*|MVP_uc010vea.2_Nonsense_Mutation_p.Q450* NM_005115 NP_059447 Q14764 MVP_HUMAN Homo sapiens major vault protein (MVP), transcript variant 2, mRNA. 856 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 GCCCGAGGGTCAGCCCCTGGG 0.647000 106 15 0 0 0.002450 0 0 MOSPD2 158747 broad.mit.edu 37 X 14930383 14930383 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:14930383G>A uc004cwi.3 + 9 1016 c.892G>A c.(892-894)Gaa>Aaa p.E298K MOSPD2_uc004cwj.3_Missense_Mutation_p.E235K NM_152581 NP_001170946 Q8NHP6 MSPD2_HUMAN Homo sapiens motile sperm domain containing 2 (MOSPD2), transcript variant 1, mRNA. 298 integral to membrane structural molecule activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(33;0.183) TAACCCAACCGAATCTACTTC 0.303000 59 11 0 0 0.000978 0 0 SLC30A8 169026 broad.mit.edu 37 8 118184863 118184863 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:118184863G>A uc003yoh.3 + 7 1283 c.1053G>A c.(1051-1053)atG>atA p.M351I SLC30A8_uc010mcz.3_Missense_Mutation_p.M302I|SLC30A8_uc003yog.3_Missense_Mutation_p.M302I|SLC30A8_uc011lia.2_Missense_Mutation_p.M302I|SLC30A8_uc022bab.1_Missense_Mutation_p.M302I NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 351 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CCATTCAGATGGAATCTCCAG 0.507000 247 167 0 0 0.003610 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814062 106814062 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:106814062C>T uc003ymd.3 + 7 1775 c.1752C>T c.(1750-1752)ttC>ttT p.F584F ZFPM2_uc011lhs.2_Silent_p.F315F NM_012082 NP_036214 Q8WW38 FOG2_HUMAN Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA. 584 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCCAGAGTTCCCTAGTGTGT 0.443000 136 34 0 0 0.003755 0 0 COG5 10466 broad.mit.edu 37 7 106871105 106871105 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:106871105C>T uc003vec.2 - 18 2741 c.2216G>A c.(2215-2217)cGa>cAa p.R739Q COG5_uc003ved.2_Missense_Mutation_p.R718Q|COG5_uc003vee.2_Missense_Mutation_p.R739Q NM_006348 NP_006339 Q9UP83 COG5_HUMAN Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA. 718 intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex|cytosol|nucleus protein binding p.R739L(2) breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 ATCAGATACTCGTCTACAGAA 0.388000 131 22 0 0 0.002299 0 0 ZNF238 10472 broad.mit.edu 37 1 244218069 244218069 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:244218069C>T uc001iad.4 + 1 1166 c.993C>T c.(991-993)gtC>gtT p.V331V ZNF238_uc001iae.3_Silent_p.V322V|ZNF238_uc001iaf.1_3'UTR NM_205768 NP_006343 Q99592 ZN238_HUMAN Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA. 322 Interaction with DNMT3A. negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123) all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223) AGGACTCGGTCTTGAGGGAGC 0.557000 26 30 0 0 0.002096 0 0 DNAH8 1769 broad.mit.edu 37 6 38816575 38816575 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:38816575C>G uc021yzh.1 + 36 5306 c.5197C>G c.(5197-5199)Cag>Gag p.Q1733E DNAH8_uc003ooe.2_Missense_Mutation_p.Q1516E NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. 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 ACAGCTGCCTCAGGTAAATAT 0.378000 94 6 0 0 0.001168 0 0 VWA2 340706 broad.mit.edu 37 10 116049010 116049010 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr10:116049010C>T uc001lbl.1 + 11 2205 c.1884C>T c.(1882-1884)gcC>gcT p.A628A VWA2_uc001lbk.1_Silent_p.A628A|VWA2_uc009xyf.1_Silent_p.A324A NM_198496 NP_940898 Q5GFL6 VWA2_HUMAN Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA. 628 VWFA 3. extracellular region central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Epithelial(162;0.036)|all cancers(201;0.0793) AGAGGGGTGCCCGGCCTGGTG 0.642000 11 18 0 0 0.007413 0 0 KCNIP4 80333 broad.mit.edu 37 4 20734378 20734378 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:20734378C>T uc021xmt.1 - 6 688 c.568G>A c.(568-570)Gat>Aat p.D190N KCNIP4_uc003gqe.2_Missense_Mutation_p.D173N|KCNIP4_uc003gqf.1_Missense_Mutation_p.D169N|KCNIP4_uc003gqg.1_Missense_Mutation_p.D128N|KCNIP4_uc003gqh.1_Missense_Mutation_p.D165N|KCNIP4_uc003gqi.1_Missense_Mutation_p.D128N|KCNIP4_uc021xmu.1_Missense_Mutation_p.D156N|PACRGL_uc003gpu.3_Intron|KCNIP4_uc021xms.1_Missense_Mutation_p.D153N NM_025221 NP_671711 Q6PIL6 KCIP4_HUMAN Homo sapiens Kv channel interacting protein 4 (KCNIP4), transcript variant 1, mRNA. 190 EF-hand 3. plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) CCCATCATATCGTATATTGCT 0.378000 31 7 0 0 0.004482 0 0 LILRB3 11025 broad.mit.edu 37 19 54803141 54803141 + Missense_Mutation SNP C G G rs147561158 byFrequency TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:54803141C>G uc002qfd.3 - 3 628 c.536G>C c.(535-537)cGg>cCg p.R179P LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron NM_006865 NP_006856 O75022 LIRB3_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA. 178 Ig-like C2-type 2. 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) GAAGATGGCCCGGGATGACCC 0.567000 13 22 0 0 0.001882 0 0 EPPK1 83481 broad.mit.edu 37 8 144940741 144940741 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:144940741C>T uc003zaa.1 - 0 6694 c.6681G>A c.(6679-6681)gcG>gcA p.A2227A NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2227 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAGGACGCCCGCGATGCAGC 0.677000 105 4 0 0 0.009096 0 0 SLC22A2 6582 broad.mit.edu 37 6 160645756 160645756 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:160645756C>T uc003qtf.3 - 9 1756 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 528 body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) TTTTCGGCTTCCTCGATGGTC 0.418000 46 42 0 0 0.002852 0 0 abParts 0 broad.mit.edu 37 14 107099305 107099305 + RNA SNP T C C rs117541988 by1000genomes TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:107099305T>C uc021ser.1 - 105 c.4783A>G Parts of antibodies, mostly variable regions. AAACCCTTTCTTGGAGCCTGG 0.542000 30 3 0 0 0.001168 0 0 DSCAM 1826 broad.mit.edu 37 21 41423967 41423967 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:41423967C>T uc002yyq.1 - 29 5555 c.5103G>A c.(5101-5103)acG>acA p.T1701T DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 1701 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGTGAGTGACCGTCAGGGACT 0.547000 64 40 0 0 0.006230 0 0 ASIC2 40 broad.mit.edu 37 17 31355372 31355372 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:31355372G>A uc002hht.3 - 3 1899 c.1026C>T c.(1024-1026)tcC>tcT p.S342S ASIC2_uc002hhu.3_Silent_p.S291S NM_183377 NP_899233 Q16515 ACCN1_HUMAN Homo sapiens amiloride-sensitive cation channel 1, neuronal (ACCN1), transcript variant MDEG2, mRNA. 291 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CCATCTCTGAGGATCGGCACT 0.542000 40 24 0 0 0.003954 0 0 PRSS16 10279 broad.mit.edu 37 6 27216906 27216906 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:27216906G>A uc003nja.3 + 3 380 c.365G>A c.(364-366)tGg>tAg p.W122* PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Nonsense_Mutation_p.W12*|PRSS16_uc010jqr.1_Nonsense_Mutation_p.W12*|PRSS16_uc003njd.3_5'Flank NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA. 122 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCCCCAGCCTGGGGCGCCCTG 0.587000 45 35 0 0 0.003271 0 0 RAD51C 5889 broad.mit.edu 37 17 56787223 56787223 + Nonsense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:56787223C>T uc002iwu.3 + 4 751 c.709C>T c.(709-711)Cga>Tga p.R237* RAD51C_uc010woa.1_Nonsense_Mutation_p.R237*|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript NM_058216 NP_478123 O43502 RA51C_HUMAN Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA. 237 DNA repair|blood coagulation mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity p.R237*(1) upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TATTTAGGTTCGACTAGTGAT 0.368000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 90 34 0 0 0.004289 0 0 TUBG2 27175 broad.mit.edu 37 17 40817713 40817713 + Silent SNP G C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:40817713G>C uc010wgr.2 + 7 967 c.711G>C c.(709-711)tcG>tcC p.S237S TUBG2_uc002iap.3_Silent_p.S84S NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN Homo sapiens tubulin, gamma 2 (TUBG2), mRNA. 237 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) CCATCATGTCGGCCAGCACCA 0.632000 60 42 0 0 0.003214 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148691727 148691727 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:148691727C>T uc003lqh.3 + 8 1111 c.980C>T c.(979-981)cCc>cTc p.P327L AFAP1L1_uc003lqg.4_Missense_Mutation_p.P327L|AFAP1L1_uc010jgy.3_Missense_Mutation_p.P327L NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA. 327 protein binding p.V326V(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGGAGGTCCCCAGATCCCCA 0.587000 94 16 0 0 0.006122 0 0 OR5M1 390168 broad.mit.edu 37 11 56380097 56380097 + Missense_Mutation SNP G C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:56380097G>C uc001nja.1 - 0 882 c.882C>G c.(880-882)aaC>aaG p.N294K OR8U8_uc001nit.2_Intron NM_001004740 NP_001004740 Q8NGP8 OR5M1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA. 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TTACATCTGTGTTCCGTAGGC 0.403000 225 30 0 0 0.002836 0 0 KRT37 8688 broad.mit.edu 37 17 39578686 39578686 + Splice_Site SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:39578686C>T uc002hwp.1 - 4 780 c.733_splice c.e4-1 p.E245_splice NM_003770 NP_003761 O76014 KRT37_HUMAN Homo sapiens keratin 37 (KRT37), mRNA. 245 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) ATCTTTACTTCCTGCAGAAAT 0.567000 91 51 0 0 0.003610 0 0 DBX1 120237 broad.mit.edu 37 11 20177834 20177834 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:20177834C>T uc021qez.1 - 3 1075 c.1072G>A c.(1072-1074)Ggg>Agg p.G358R DBX1_uc021qey.1_Missense_Mutation_p.G320R NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN Homo sapiens developing brain homeobox 1 (DBX1), mRNA. 320 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GAAGGTTTCCCGGGACTGCTC 0.677000 85 99 0 0 0.003610 0 0 CLDN6 9074 broad.mit.edu 37 16 3065515 3065515 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:3065515C>T uc021tbb.1 - 0 508 c.508G>A c.(508-510)Gcc>Acc p.A170T CLDN6_uc002csu.4_Missense_Mutation_p.A170T NM_021195 NP_067018 P56747 CLD6_HUMAN Homo sapiens claudin 6 (CLDN6), mRNA. 170 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 AGGCCTGAGGCCGCCCAGCCC 0.657000 8 12 0 0 0.001368 0 0 ZNF83 55769 broad.mit.edu 37 19 53116513 53116513 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:53116513C>T uc002pzu.4 - 1 2549 c.1305G>A c.(1303-1305)ggG>ggA p.G435G ZNF83_uc002pzv.4_Silent_p.G435G|ZNF83_uc010eps.3_Silent_p.G407G|ZNF83_uc010ept.3_Silent_p.G435G|ZNF83_uc010epu.3_Silent_p.G435G|ZNF83_uc010epw.3_Silent_p.G435G|ZNF83_uc010epv.3_Silent_p.G435G|ZNF83_uc010epx.3_Silent_p.G407G|ZNF83_uc010epy.3_Silent_p.G435G|ZNF83_uc010epz.3_Silent_p.G407G|ZNF83_uc010eqb.2_Silent_p.G407G|ZNF83_uc021uyx.1_Silent_p.G435G NM_018300 NP_060770 P51522 ZNF83_HUMAN Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA. 435 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) CGAAGACCTTCCCACATTCAT 0.368000 60 17 0 0 0.004007 0 0 ABCG1 9619 broad.mit.edu 37 21 43645804 43645804 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:43645804G>A uc011aev.2 + 1 173 c.99G>A c.(97-99)gaG>gaA p.E33E ABCG1_uc002zam.3_5'UTR|ABCG1_uc002zan.3_Silent_p.E24E|ABCG1_uc002zao.3_Silent_p.E19E|ABCG1_uc002zap.3_Silent_p.E22E|ABCG1_uc002zaq.3_Silent_p.E22E|ABCG1_uc002zar.3_Silent_p.E33E NM_004915 NP_004906 P45844 ABCG1_HUMAN Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA. 22 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity p.S32L(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) ACTCTGCAGAGATGACGGAGC 0.483000 86 31 0 0 0.002096 0 0 SGTB 54557 broad.mit.edu 37 5 65008804 65008804 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:65008804G>A uc003jud.3 - 2 408 c.188C>T c.(187-189)aCc>aTc p.T63I NM_019072 NP_061945 Q96EQ0 SGTB_HUMAN Homo sapiens small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta (SGTB), mRNA. 63 binding large_intestine(3)|lung(3)|skin(3) 9 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) GAAGGAACTGGTAAACATTTC 0.348000 29 18 0 0 0.008871 0 0 PDILT 204474 broad.mit.edu 37 16 20376827 20376827 + Nonsense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:20376827C>T uc002dhc.1 - 8 1375 c.1152G>A c.(1150-1152)tgG>tgA p.W384* NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 384 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 GTCCCTGGTCCCAGTATTTTG 0.448000 97 28 0 0 0.005443 0 0 OR8H1 219469 broad.mit.edu 37 11 56058493 56058493 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:56058493C>T uc010rje.2 - 0 46 c.46G>A c.(46-48)Gga>Aga p.G16R NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T15M(1) NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Esophageal squamous(21;0.00448) TCTGACAGTCCCGTAAGGATG 0.378000 77 36 0 0 0.003755 0 0 PI4K2B 55300 broad.mit.edu 37 4 25265404 25265404 + Silent SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:25265404T>C uc003grk.2 + 6 1144 c.1011T>C c.(1009-1011)ctT>ctC p.L337L PI4K2B_uc011bxs.2_Silent_p.L241L NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA. 337 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) AAGAATTCCTTATTAAAATAG 0.289000 84 18 0 0 0.001882 0 0 OR10J1 26476 broad.mit.edu 37 1 159410425 159410425 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:159410425C>T uc010piv.2 + 0 914 c.877C>T c.(877-879)Ccc>Tcc p.P293S BC038194_uc001fts.4_Intron NM_012351 NP_036483 P30954 O10J1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA. 293 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) TGTCATCACTCCCCTACTGAA 0.507000 57 15 0 0 0.002450 0 0 GRIA2 2891 broad.mit.edu 37 4 158234028 158234028 + Splice_Site SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:158234028G>A uc003ipm.4 + 4 1125 c.666_splice c.e4+1 p.Q222_splice GRIA2_uc011cit.2_Splice_Site_p.Q175_splice|GRIA2_uc021xtr.1_Splice_Site_p.Q222_splice|GRIA2_uc003ipl.4_Splice_Site_p.Q222_splice|GRIA2_uc003ipk.4_Splice_Site_p.Q175_splice|GRIA2_uc010iqh.1_Splice_Site NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 222 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGTAGACCAGGTTTGCTACTT 0.378000 55 13 0 0 0.001855 0 0 F10 2159 broad.mit.edu 37 13 113803759 113803759 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr13:113803759C>T uc001vsx.3 + 7 1452 c.1395C>T c.(1393-1395)tcC>tcT p.S465S F10_uc001vsy.3_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN Homo sapiens coagulation factor X (F10), mRNA. 465 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis Golgi lumen|endoplasmic reticulum lumen|extracellular region calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1) 18 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) TCGACAGGTCCATGAAAACCA 0.572000 89 28 0 0 0.004656 0 0 FBXO40 51725 broad.mit.edu 37 3 121340282 121340282 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:121340282G>A uc003eeg.2 + 2 216 c.6G>A c.(4-6)ggG>ggA p.G2G NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 2 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding p.M1I(1) NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) GTGTCCAGGGGAAAGCCCGCA 0.507000 65 45 0 0 0.003610 0 0 RERE 473 broad.mit.edu 37 1 8420609 8420609 + Silent SNP T G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:8420609T>G uc001ape.3 - 18 3768 c.2958A>C c.(2956-2958)ccA>ccC p.P986P RERE_uc001apf.3_Silent_p.P986P|RERE_uc010nzx.1_Silent_p.P718P|RERE_uc001apd.3_Silent_p.P432P NM_012102 NP_036234 Q9P2R6 RERE_HUMAN Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA. 986 Pro-rich. NLS-bearing substrate import into nucleus|multicellular organismal development mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P986P(8) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GTTGCAGGGGTGGGGGGTGAG 0.706000 32 4 0 0 0.001984 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237430 30237430 + Missense_Mutation SNP T A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:30237430T>A uc022buf.1 + 0 733 c.733T>A c.(733-735)Tgg>Agg p.W245R MAGEB2_uc004dbz.3_Missense_Mutation_p.W245R NM_002364 NP_002355 O15479 MAGB2_HUMAN Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA. 245 MAGE. protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 TGGGGAACCCTGGAAGCTCAT 0.498000 52 15 0 0 0.004007 0 0 NARS2 79731 broad.mit.edu 37 11 78282420 78282420 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:78282420C>T uc001ozi.3 - 1 587 c.211G>A c.(211-213)Gaa>Aaa p.E71K NARS2_uc010rsq.2_5'UTR NM_024678 NP_001230180 Q96I59 SYNM_HUMAN Homo sapiens asparaginyl-tRNA synthetase 2, mitochondrial (putative) (NARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 71 asparaginyl-tRNA aminoacylation mitochondrial matrix ATP binding|asparagine-tRNA ligase activity|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) TGAAGGCTTTCCAAAGATGAC 0.403000 45 27 0 0 0.002445 0 0 ANO10 55129 broad.mit.edu 37 3 43474171 43474171 + Missense_Mutation SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:43474171T>C uc003cmv.3 - 11 2017 c.1846A>G c.(1846-1848)Aag>Gag p.K616E ANO10_uc011azs.2_Intron|ANO10_uc003cmw.3_Missense_Mutation_p.K550E|ANO10_uc010hil.3_Missense_Mutation_p.K426E|ANO10_uc011azt.2_Missense_Mutation_p.K505E NM_018075 NP_060545 Q9NW15 ANO10_HUMAN Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA. 616 cell death chloride channel complex chloride channel activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3) 29 TGCCGTGGCTTATCAGGTATG 0.423000 33 17 0 0 0.004990 0 0 DNER 92737 broad.mit.edu 37 2 230411694 230411694 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:230411694C>T uc002vpv.3 - 4 1109 c.962G>A c.(961-963)gGa>gAa p.G321E DNER_uc010zly.1_Missense_Mutation_p.G49E NM_139072 NP_620711 Q8NFT8 DNER_HUMAN Homo sapiens delta/notch-like EGF repeat containing (DNER), mRNA. 321 EGF-like 3. Notch signaling pathway|central nervous system development|endocytosis|neuron migration|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TTTTCCTTTTCCTGAACACTC 0.448000 68 52 0 0 0.003610 0 0 TANC2 26115 broad.mit.edu 37 17 61498424 61498424 + Missense_Mutation SNP A T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:61498424A>T uc002jal.4 + 24 5104 c.5081A>T c.(5080-5082)aAa>aTa p.K1694I TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.K805I NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA. 1694 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GGATTGACCAAAGAGGATCTT 0.572000 160 29 0 0 0.006320 0 0 ZNF473 25888 broad.mit.edu 37 19 50549410 50549410 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:50549410C>T uc002prn.3 + 4 1947 c.1710C>T c.(1708-1710)acC>acT p.T570T ZNF473_uc002prm.3_Silent_p.T570T|ZNF473_uc010ybo.2_Silent_p.T558T NM_001006656 NP_056243 Q8WTR7 ZN473_HUMAN Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA. 570 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GTGAGAAAACCTTTAGCTGCA 0.443000 23 4 0 0 0.009096 0 0 ANK2 287 broad.mit.edu 37 4 114277622 114277622 + Missense_Mutation SNP A C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:114277622A>C uc003ibe.4 + 37 7948 c.7848A>C c.(7846-7848)aaA>aaC p.K2616N ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K2631N NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 2583 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AAGAACCCAAACAAGAAGAAT 0.403000 66 22 0 0 0.002780 0 0 PROL1 58503 broad.mit.edu 37 4 71275418 71275418 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:71275418C>T uc003hfi.3 + 2 547 c.373C>T c.(373-375)Cct>Tct p.P125S NM_021225 NP_067048 Q99935 PROL1_HUMAN Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA. 125 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCCCCATTTCCTCCTATTCC 0.413000 96 15 0 0 0.003163 0 0 SLC16A14 151473 broad.mit.edu 37 2 230910574 230910574 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:230910574G>A uc002vqd.2 - 3 1727 c.1268C>T c.(1267-1269)tCc>tTc p.S423F FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Missense_Mutation_p.S423F|SLC16A14_uc002vqf.3_Missense_Mutation_p.S423F NM_152527 NP_689740 Q7RTX9 MOT14_HUMAN Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA. 423 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) GGGCATTAGGGAGAAATAACC 0.502000 27 23 0 0 0.004656 0 0 SPOCK1 6695 broad.mit.edu 37 5 136320844 136320844 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:136320844C>T uc003lbo.3 - 7 1167 c.976G>A c.(976-978)Ggg>Agg p.G326R SPOCK1_uc003lbp.3_Missense_Mutation_p.G326R NM_004598 NP_004589 Q08629 TICN1_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA. 326 Thyroglobulin type-1. cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGGCTTTTCCCCTTACTCAGC 0.393000 50 26 0 0 0.004656 0 0 ZFAT 57623 broad.mit.edu 37 8 135614396 135614396 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:135614396C>T uc003yup.3 - 5 1752 c.1566G>A c.(1564-1566)gaG>gaA p.E522E ZFAT_uc003yun.3_Silent_p.E510E|ZFAT_uc003yuo.3_Silent_p.E510E|ZFAT_uc010meh.3_Silent_p.E510E|ZFAT_uc010mej.3_Silent_p.E460E|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.E510E|ZFAT_uc003yur.3_Silent_p.E510E NM_020863 NP_001161055 Q9P243 ZFAT_HUMAN Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA. 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) GGAGGGCAAACTCCTCTTCCA 0.612000 15 8 0 0 0.006214 0 0 PIK3C3 5289 broad.mit.edu 37 18 39623705 39623705 + Silent SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr18:39623705T>C uc002lap.3 + 19 2170 c.2112T>C c.(2110-2112)ttT>ttC p.F704F PIK3C3_uc010xcl.2_Silent_p.F641F|PIK3C3_uc002laq.3_Silent_p.F189F|PIK3C3_uc002lar.1_Silent_p.F88F NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN Homo sapiens phosphoinositide-3-kinase, class 3 (PIK3C3), mRNA. 704 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 AGAACTTTTTTAGAAAATATG 0.338000 TSP Lung(28;0.18) 43 10 0 0 0.001368 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212798 26212798 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:26212798G>A uc022buc.1 + 0 835 c.835G>A c.(835-837)Gat>Aat p.D279N MAGEB6_uc004dbr.3_Missense_Mutation_p.D279N NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 279 MAGE. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TCTGAGTGGTGATAATGCGCT 0.547000 136 30 0 0 0.002836 0 0 RIMBP3 85376 broad.mit.edu 37 22 20458067 20458067 + Missense_Mutation SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr22:20458067C>A uc002zsd.4 - 0 3720 c.3235G>T c.(3235-3237)Gac>Tac p.D1079Y RN7SK_uc021wlw.1_5'Flank NM_015672 NP_056487 Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) AAGAGTGTGTCGAAGGTGACG 0.657000 47 5 0.000602214 0.000640583 0.000602 1 0 TTN 7273 broad.mit.edu 37 2 179407493 179407493 + Missense_Mutation SNP T A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:179407493T>A uc021vsy.1 - 296 89609 c.89384A>T c.(89383-89385)aAa>aTa p.K29795I MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K23490I|TTN_uc021vta.1_Missense_Mutation_p.K23423I|TTN_uc021vtb.1_Missense_Mutation_p.K23298I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 30722 Fibronectin type-III 117. 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) GATGGTTAATTTAGCTACTTT 0.413000 129 45 0 0 0.009718 0 0 GRIA4 2893 broad.mit.edu 37 11 105774666 105774666 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:105774666C>T uc001pix.2 + 7 1458 c.1012C>T c.(1012-1014)Cca>Tca p.P338S GRIA4_uc001piu.1_Missense_Mutation_p.P338S|GRIA4_uc001piw.2_Missense_Mutation_p.P338S|GRIA4_uc009yxk.1_Missense_Mutation_p.P338S NM_000829 NP_000820 P48058 GRIA4_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA. 338 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCCTGCTGCTCCATGGGGCCA 0.418000 77 60 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21042506 21042506 + Nonsense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:21042506C>T uc010vbe.2 - 36 5300 c.5300G>A c.(5299-5301)tGg>tAg p.W1767* NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1767 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ACCATCCATCCACTCGTGGCT 0.502000 51 40 0 0 0.002522 0 0 CCDC73 493860 broad.mit.edu 37 11 32636347 32636347 + Missense_Mutation SNP G A A rs79335956 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:32636347G>A uc001mtv.3 - 15 1561 c.1517C>T c.(1516-1518)aCg>aTg p.T506M NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN Homo sapiens coiled-coil domain containing 73 (CCDC73), mRNA. 506 p.V505I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) TCTGTTGTCCGTAACATTCGA 0.323000 133 8 0 0 0.003080 0 0 SNX29 92017 broad.mit.edu 37 16 12662371 12662371 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:12662371C>T uc002dby.4 + 20 2389 c.1172C>T c.(1171-1173)aCc>aTc p.T391I NM_032167 NP_115543 Q8TEQ0 SNX29_HUMAN Homo sapiens sorting nexin 29 (SNX29), mRNA. 391 PX. cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 AGCGACATCACCCCGCCCGGA 0.637000 49 11 0 0 0.001855 0 0 ABCC12 94160 broad.mit.edu 37 16 48138243 48138243 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:48138243G>A uc002efc.1 - 19 3056 c.2710C>T c.(2710-2712)Ccc>Tcc p.P904S ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_Non-coding_Transcript NM_033226 NP_150229 Q96J65 MRP9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA. 904 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) CTGCCAGTGGGAGTCGTGTCA 0.478000 58 45 0 0 0.003610 0 0 NBEAL2 23218 broad.mit.edu 37 3 47049364 47049364 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:47049364G>A uc003cqp.3 + 48 7745 c.7566G>A c.(7564-7566)cgG>cgA p.R2522R NBEAL2_uc010hjm.2_Silent_p.R1899R|NBEAL2_uc010hjn.2_Silent_p.R888R NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 2522 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CAGGCTCCCGGGACACCACGT 0.632000 21 7 0 0 0.003080 0 0 CCDC129 223075 broad.mit.edu 37 7 31617677 31617677 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:31617677C>T uc011kae.2 + 7 889 c.877C>T c.(877-879)Cgg>Tgg p.R293W CCDC129_uc011kad.1_Missense_Mutation_p.R277W|CCDC129_uc003tcj.1_Missense_Mutation_p.R267W|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Missense_Mutation_p.R175W NM_194300 NP_919276 Q6ZRS4 CC129_HUMAN Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA. 267 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 GAACATCAGGCGGGATTGTAA 0.473000 13 14 0 0 0.001855 0 0 ZNF264 9422 broad.mit.edu 37 19 57724217 57724217 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:57724217C>T uc002qob.3 + 3 2166 c.1752C>T c.(1750-1752)acC>acT p.T584T NM_003417 NP_003408 O43296 ZN264_HUMAN Homo sapiens zinc finger protein 264 (ZNF264), mRNA. 584 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 27 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;0.0135) CCTCAGTTACCCTTCGAGAAC 0.438000 48 43 0 0 0.009718 0 0 XRCC5 7520 broad.mit.edu 37 2 217002897 217002897 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:217002897C>T uc002vfy.3 + 11 1477 c.1337C>T c.(1336-1338)cCc>cTc p.P446L XRCC5_uc002vfz.3_Missense_Mutation_p.P332L NM_021141 NP_066964 P13010 XRCC5_HUMAN Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA. 446 Ku. double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) AAATATGCTCCCACCGGTGAG 0.398000 Non-homologous end-joining 17 5 0 0 0.000602 0 0 HLA-DMB 3109 broad.mit.edu 37 6 32906605 32906605 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:32906605C>T uc003ocl.2 - 1 456 c.193G>A c.(193-195)Gaa>Aaa p.E65K HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_5'Flank|HLA-DMB_uc010jue.2_5'Flank|HLA-DMB_uc010juf.2_5'Flank|HLA-DMB_uc003ocj.2_Missense_Mutation_p.E65K|HLA-DMB_uc011dql.2_Missense_Mutation_p.E65K NM_002118 NP_002109 P28068 DMB_HUMAN Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA. 65 Beta-1. T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 ACCCCAAATTCGCAAGGGGCC 0.512000 75 41 0 0 0.006999 0 0 SEC14L3 266629 broad.mit.edu 37 22 30860877 30860877 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr22:30860877G>A uc003ahy.3 - 7 683 c.594C>T c.(592-594)ttC>ttT p.F198F SEC14L3_uc003ahz.3_Silent_p.F121F|SEC14L3_uc003aia.3_Silent_p.F139F|SEC14L3_uc003aib.3_Silent_p.F139F NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 198 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) AGCCCACAGGGAACAGTTTGG 0.448000 59 53 0 0 0.003610 0 0 FTSJ2 29960 broad.mit.edu 37 7 2275012 2275012 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:2275012G>A uc003slm.3 - 2 515 c.486C>T c.(484-486)ttC>ttT p.F162F MAD1L1_uc003slh.1_5'Flank|MAD1L1_uc003slf.1_5'Flank|MAD1L1_uc003slg.1_5'Flank|MAD1L1_uc010ksh.1_5'Flank|MAD1L1_uc003sli.1_5'Flank|MAD1L1_uc010ksi.1_5'Flank|MAD1L1_uc010ksj.3_5'Flank|FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_Silent_p.F8F NM_013393 NP_037525 Q9UI43 RRMJ2_HUMAN Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA. 162 cell proliferation mitochondrion|nucleolus nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14) CGAGGTCCCGGAACCCTGTGG 0.572000 46 17 0 0 0.004007 0 0 TC2N 123036 broad.mit.edu 37 14 92266635 92266635 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:92266635C>T uc001xzu.4 - 4 742 c.551G>A c.(550-552)cGa>cAa p.R184Q TC2N_uc001xzt.4_Missense_Mutation_p.R184Q|TC2N_uc010auc.3_Missense_Mutation_p.R184Q|TC2N_uc001xzv.4_Missense_Mutation_p.R184Q NM_001128595 NP_689545 Q8N9U0 TAC2N_HUMAN Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA. 184 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) CTGGATGAATCGCTGAGATGA 0.323000 7 3 0 0 0.004672 0 0 SDHAP3 728609 broad.mit.edu 37 5 1576305 1576305 + RNA SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:1576305C>T uc011cmd.1 - 1 c.424G>A SDHAP3_uc011cme.2_Non-coding_Transcript Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 3 (SDHAP3), non-coding RNA. TTGTAGCCTTCCCTGGCGTGC 0.627000 21 9 0 0 0.008291 0 0 CASP8 841 broad.mit.edu 37 2 202131505 202131505 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:202131505C>T uc002uxr.1 + 2 505 c.296C>T c.(295-297)tCt>tTt p.S99F CASP8_uc010ftc.1_Missense_Mutation_p.S99F|CASP8_uc002uxo.1_Missense_Mutation_p.S99F|CASP8_uc002uxq.1_Missense_Mutation_p.S99F|CASP8_uc002uxp.1_Missense_Mutation_p.S99F|CASP8_uc002uxs.1_Missense_Mutation_p.S99F|CASP8_uc002uxu.1_Non-coding_Transcript|CASP8_uc002uxt.1_Missense_Mutation_p.S158F|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.S99F|CASP8_uc002uxw.1_Missense_Mutation_p.S99F|CASP8_uc021vuy.1_Missense_Mutation_p.S99F|CASP8_uc021vuz.1_Missense_Mutation_p.S99F|CASP8_uc021vva.1_Missense_Mutation_p.S99F|CASP8_uc010ftf.2_Missense_Mutation_p.S99F NM_033355 NP_203519 Q14790 CASP8_HUMAN Homo sapiens caspase 8, apoptosis-related cysteine peptidase (CASP8), transcript variant B, mRNA. 99 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 GCTCAAATTTCTGCCTACAGG 0.493000 HNSCC(4;0.00038) 23 14 0 0 0.001855 0 0 SLC12A3 6559 broad.mit.edu 37 16 56938370 56938370 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:56938370G>A uc002ekd.4 + 24 2976 c.2947G>A c.(2947-2949)Gtc>Atc p.V983I SLC12A3_uc010ccm.3_Missense_Mutation_p.V974I|SLC12A3_uc010ccn.3_Missense_Mutation_p.V982I NM_000339 NP_000330 P55017 S12A3_HUMAN Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA. 974 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TGCTCTCATCGTCATGTAAGT 0.602000 96 5 0 0 0.001168 0 0 SLC5A2 6524 broad.mit.edu 37 16 31498708 31498708 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:31498708C>T uc002ecf.4 + 5 661 c.642C>T c.(640-642)atC>atT p.I214I SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 214 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 GCGCCTGCATCCTCATGGGTT 0.706000 85 48 0 0 0.003610 0 0 ODZ1 10178 broad.mit.edu 37 X 123518237 123518237 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:123518237C>T uc010nqy.3 - 29 6608 c.6544G>A c.(6544-6546)Gat>Aat p.D2182N ODZ1_uc011muj.2_Missense_Mutation_p.D2181N|ODZ1_uc004euj.3_Missense_Mutation_p.D2175N NM_001163278 NP_001156750 Q9UKZ4 TEN1_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA. 2175 immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 212 CCATTCAGATCGTAACTATAA 0.433000 62 24 0 0 0.002780 0 0 SLC44A2 57153 broad.mit.edu 37 19 10747042 10747042 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:10747042G>A uc002mpf.3 + 14 1416 c.1277G>A c.(1276-1278)cGt>cAt p.R426H SLC44A2_uc002mpe.4_Missense_Mutation_p.R424H|SLC44A2_uc002mpg.1_Missense_Mutation_p.R146H|SLC44A2_uc002mph.3_5'UTR NM_020428 NP_065161 Q8IWA5 CTL2_HUMAN Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA. 426 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) CCCAATGCCCGTTGCCAGTTC 0.592000 52 33 0 0 0.003271 0 0 ALG13 79868 broad.mit.edu 37 X 110951458 110951458 + Missense_Mutation SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:110951458C>A uc011msy.2 + 3 688 c.587C>A c.(586-588)cCt>cAt p.P196H ALG13_uc011msw.2_Missense_Mutation_p.P118H|ALG13_uc011msx.2_Missense_Mutation_p.P92H|ALG13_uc011msz.2_Missense_Mutation_p.P118H|ALG13_uc011mta.2_Missense_Mutation_p.P92H|ALG13_uc011mtb.2_Missense_Mutation_p.P92H NM_001099922 NP_001093392 Q9NP73 ALG13_HUMAN Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA. 196 dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding endometrium(2)|lung(10)|skin(1) 13 TTTCCTCTCCCTCTTACCCCC 0.473000 39 17 9.16793e-09 1.00299e-08 0.004990 1 0 KAT7 11143 broad.mit.edu 37 17 47904851 47904851 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:47904851C>T uc002ipm.3 + 14 2039 c.1823C>T c.(1822-1824)cCc>cTc p.P608L KAT7_uc002ipl.2_Missense_Mutation_p.P578L|KAT7_uc010wma.2_Missense_Mutation_p.P469L|KAT7_uc010wmb.2_Missense_Mutation_p.P498L|KAT7_uc010wmc.2_Missense_Mutation_p.P439L|KAT7_uc010wmd.2_Missense_Mutation_p.P452L|KAT7_uc010wme.2_Missense_Mutation_p.P422L|KAT7_uc010wmf.2_Missense_Mutation_p.P273L|KAT7_uc010wmg.2_Missense_Mutation_p.P163L NM_007067 NP_008998 O95251 MYST2_HUMAN Homo sapiens K(lysine) acetyltransferase 7 (KAT7), transcript variant 1, mRNA. 608 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TGGACCCCTCCCAAGGGCACT 0.507000 39 16 0 0 0.004990 0 0 MED12L 116931 broad.mit.edu 37 3 150840679 150840679 + Missense_Mutation SNP T G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:150840679T>G uc003eyp.3 + 2 443 c.314T>G c.(313-315)gTt>gGt p.V105G MED12L_uc011bnz.2_Missense_Mutation_p.V105G|MED12L_uc003eym.1_Missense_Mutation_p.V105G|MED12L_uc003eyn.3_Missense_Mutation_p.V105G|MED12L_uc003eyo.3_Missense_Mutation_p.V105G NM_053002 NP_443728 Q86YW9 MD12L_HUMAN Homo sapiens mediator complex subunit 12-like (MED12L), mRNA. 105 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TATTGGCTGGTTACTGCTCGA 0.363000 13 8 0 0 0.004482 0 0 ARID1A 8289 broad.mit.edu 37 1 27100919 27100919 + Nonsense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:27100919C>T uc001bmv.1 + 17 4574 c.4201C>T c.(4201-4203)Cag>Tag p.Q1401* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1400*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q1018*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q247*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1401 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.Q1401*(2) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGGGCAGCCTCAGCAGCAGCA 0.607000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 41 10 0 0 0.008291 0 0 HEPH 9843 broad.mit.edu 37 X 65408329 65408329 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:65408329C>T uc011moz.2 + 4 1053 c.916C>T c.(916-918)Cct>Tct p.P306S HEPH_uc004dwn.3_Missense_Mutation_p.P255S|HEPH_uc004dwo.3_5'UTR|HEPH_uc010nkr.3_Missense_Mutation_p.P255S|HEPH_uc011mpa.2_Missense_Mutation_p.P255S NM_138737 NP_055614 Q9BQS7 HEPH_HUMAN Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA. 252 Plastocyanin-like 2. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity p.A306V(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CTGCTCAGATCCTGCTTCAGT 0.473000 29 11 0 0 0.000978 0 0 CENPC1 1060 broad.mit.edu 37 4 68374707 68374707 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:68374707G>A uc003hdd.1 - 9 1912 c.1729C>T c.(1729-1731)Cca>Tca p.P577S CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P577S NM_001812 NP_001803 Q03188 CENPC_HUMAN Homo sapiens centromere protein C 1 (CENPC1), mRNA. 577 mitotic prometaphase condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol DNA binding NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 23 CTTTTAAGTGGAATAGTTTTT 0.338000 80 16 0 0 0.004007 0 0 PTPRT 11122 broad.mit.edu 37 20 40827898 40827898 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr20:40827898G>A uc002xkg.3 - 15 2657 c.2473C>T c.(2473-2475)Cag>Tag p.Q825* PTPRT_uc010ggj.3_Nonsense_Mutation_p.Q844*|PTPRT_uc010ggi.3_Nonsense_Mutation_p.Q28* NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 825 homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TTGACGTCCTGAGAACTAGAA 0.567000 333 164 0 0 0.003610 0 0 ARHGAP30 257106 broad.mit.edu 37 1 161019438 161019438 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:161019438C>T uc001fxl.3 - 10 1808 c.1462G>A c.(1462-1464)Gac>Aac p.D488N ARHGAP30_uc001fxk.3_Missense_Mutation_p.D488N|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D334N|ARHGAP30_uc009wtx.3_Missense_Mutation_p.D161N|ARHGAP30_uc001fxn.1_Missense_Mutation_p.D334N NM_001025598 NP_001020769 Q7Z6I6 RHG30_HUMAN Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA. 488 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00122) GGGCCTGAGTCTGCCAGGGGA 0.562000 75 18 0 0 0.007413 0 0 UBR5 51366 broad.mit.edu 37 8 103359151 103359151 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:103359151G>A uc003ykr.2 - 5 1011 c.556C>T c.(556-558)Cca>Tca p.P186S UBR5_uc003yks.2_Missense_Mutation_p.P186S NM_015902 NP_056986 O95071 UBR5_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA. 186 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AGCTCCTCTGGAATGACAGAT 0.502000 40 47 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9013898 9013898 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:9013898G>A uc002mkp.3 - 32 38696 c.38492C>T c.(38491-38493)tCc>tTc p.S12831F MUC16_uc021uog.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12833 Missing (in Ref. 3; AAK74120). 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 GTCCACTGTGGAGGTCCCAGG 0.483000 16 6 0 0 0.001984 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22202161 22202161 + Splice_Site SNP T G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:22202161T>G uc003svg.3 - 13 1138 c.825_splice c.e13-1 p.H275_splice RAPGEF5_uc011jyl.1_Splice_Site NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 125 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 GCAGAATAGGTGCAAATGGTT 0.333000 17 12 0 0 0.001855 0 0 ARID1A 8289 broad.mit.edu 37 1 27106861 27106861 + Nonsense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:27106861C>T uc001bmv.1 + 19 6845 c.6472C>T c.(6472-6474)Cga>Tga p.R2158* ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1941*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R1004*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R486*|ARID1A_uc009vsn.1_Nonsense_Mutation_p.R400* NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 2158 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.R2158*(6)|p.D2157N(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCTCAGTGACCGAAAGAACCC 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 59 35 0 0 0.003271 0 0 STAG2 10735 broad.mit.edu 37 X 123205126 123205126 + Missense_Mutation SNP T A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:123205126T>A uc004eua.3 + 24 2890 c.2486T>A c.(2485-2487)aTt>aAt p.I829N STAG2_uc004etz.4_Missense_Mutation_p.I829N|STAG2_uc004eub.3_Missense_Mutation_p.I829N|STAG2_uc004euc.3_Missense_Mutation_p.I829N|STAG2_uc004eud.3_Missense_Mutation_p.I829N|STAG2_uc004eue.3_Missense_Mutation_p.I829N NM_001042749 NP_001036215 Q8N3U4 STAG2_HUMAN Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA. 829 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CTCAGCTTTATTTTGGATCAT 0.368000 103 28 0 0 0.007291 0 0 SP140 11262 broad.mit.edu 37 2 231155249 231155249 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:231155249G>A uc002vql.3 + 18 1910 c.1795G>A c.(1795-1797)Gga>Aga p.G599R SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.G485R|SP140_uc002vqm.3_Missense_Mutation_p.G539R|SP140_uc010fxl.3_Missense_Mutation_p.G572R NM_007237 NP_009168 Q13342 LY10_HUMAN Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA. 599 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TGGGGTGAAGGGAATTTTACA 0.403000 48 14 0 0 0.003163 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938316 30938316 + Splice_Site SNP G A A rs112615235 by1000genomes TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:30938316G>A uc010azv.1 + 11 c.1127_splice c.e11-1 ARHGAP11B_uc001zeu.3_Splice_Site|LOC100288637_uc001zev.3_5'Flank Q3KRB8 RHGBB_HUMAN Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) TTCCTTGGCAGTGGATAAGTT 0.393000 20 3 0 0 0.004672 0 0 DSPP 1834 broad.mit.edu 37 4 88534261 88534261 + Missense_Mutation SNP A C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:88534261A>C uc003hqu.3 + 3 1043 c.923A>C c.(922-924)gAa>gCa p.E308A NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN Homo sapiens dentin sialophosphoprotein (DSPP), mRNA. 308 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) TATGACCCTGAAGGCAAAGAA 0.428000 19 15 0 0 0.004990 0 0 NDN 4692 broad.mit.edu 37 15 23931457 23931457 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:23931457G>A uc001ywk.3 - 0 994 c.908C>T c.(907-909)gCt>gTt p.A303V NM_002487 NP_002478 Q99608 NECD_HUMAN Homo sapiens necdin homolog (mouse) (NDN), mRNA. 303 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CTCCCGCAGAGCTCTGGCCTC 0.567000 Prader-Willi syndrome 48 33 0 0 0.009535 0 0 C1orf150 148823 broad.mit.edu 37 1 247737636 247737636 + Silent SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:247737636T>C uc001idf.3 + 4 507 c.360T>C c.(358-360)ccT>ccC p.P120P C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 120 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) TTAGTAGGCCTTGTTCCTGCA 0.428000 31 12 0 0 0.001368 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142162174 142162174 + Missense_Mutation SNP A G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:142162174A>G uc011krx.2 - 1 116 c.101T>C c.(100-102)aTa>aCa p.I34T TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.I34T SubName: Full=BV13S6J2.1 protein; Flags: Fragment; GCTCTGTCCTATCTTCAGGAT 0.502000 134 5 0 0 0.000602 0 0 OR4C15 81309 broad.mit.edu 37 11 55321940 55321940 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:55321940G>A uc010rig.2 + 0 158 c.158G>A c.(157-159)gGa>gAa p.G53E NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA. 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TTTTCCTTGGGAAACATGCAA 0.358000 HNSCC(20;0.049) 114 41 0 0 0.002522 0 0 MUC16 94025 broad.mit.edu 37 19 9063802 9063802 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:9063802C>T uc002mkp.3 - 2 23848 c.23644G>A c.(23644-23646)Gac>Aac p.D7882N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 7884 Ser-rich.|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 GTGGAGATGTCTGGTGATATT 0.507000 75 16 0 0 0.003163 0 0 VKORC1L1 154807 broad.mit.edu 37 7 65419290 65419290 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:65419290C>T uc011kds.2 + 1 526 c.424C>T c.(424-426)Ccc>Tcc p.P142S VKORC1L1_uc003tul.3_3'UTR|VKORC1L1_uc003tum.1_5'Flank Q8N0U8 VKORL_HUMAN Homo sapiens vitamin K epoxide reductase complex, subunit 1-like 1 (VKORC1L1), mRNA. 0 integral to membrane large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) AGGACTGACGCCCGACAGACT 0.428000 24 10 0 0 0.000978 0 0 NRXN3 9369 broad.mit.edu 37 14 79933605 79933605 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:79933605C>T uc001xun.3 + 12 2676 c.2185C>T c.(2185-2187)Ctc>Ttc p.L729F NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.L97F|NRXN3_uc010asw.3_Missense_Mutation_p.L97F|NRXN3_uc001xur.4_Missense_Mutation_p.L97F NM_004796 NP_004787 Q9HDB5 NRX3B_HUMAN Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA. 97 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGGCTTATCCTCTACACCTG 0.562000 54 12 0 0 0.000978 0 0 EPHA4 2043 broad.mit.edu 37 2 222428599 222428599 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:222428599G>A uc002vmq.3 - 2 717 c.675C>T c.(673-675)tcC>tcT p.S225S EPHA4_uc002vmr.2_Silent_p.S225S|EPHA4_uc010zlm.1_Silent_p.S166S NM_004438 NP_004429 P54764 EPHA4_HUMAN Homo sapiens EPH receptor A4 (EPHA4), mRNA. 225 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Renal(207;0.0183) Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154) CTTCCACCAGGGAAGACGTAT 0.512000 75 25 0 0 0.004656 0 0 FBXO40 51725 broad.mit.edu 37 3 121341342 121341342 + Missense_Mutation SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:121341342T>C uc003eeg.2 + 2 1276 c.1066T>C c.(1066-1068)Tac>Cac p.Y356H NM_016298 NP_057382 Q9UH90 FBX40_HUMAN Homo sapiens F-box protein 40 (FBXO40), mRNA. 356 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 GBM - Glioblastoma multiforme(114;0.189) TCCTGTGAGCTACTGTGGAAA 0.478000 41 38 0 0 0.004289 0 0 SPRED2 200734 broad.mit.edu 37 2 65540880 65540881 + Missense_Mutation DNP GG AT AT TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:65540880_65540881GG>AT uc002sdr.4 - 5 1546_1547 c.1011_1012CC>AT c.(1009-1014)atccgc>atATgc p.R338C SPRED2_uc010fcw.3_Missense_Mutation_p.R335C NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA. 338 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 CTCACCCGGCGGATGCAAGTTC 0.624000 95 23 0 0 0.004672 0 0 CDH4 1002 broad.mit.edu 37 20 60504712 60504712 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr20:60504712G>A uc002ybn.2 + 12 2139 c.2051G>A c.(2050-2052)gGg>gAg p.G684E CDH4_uc002ybr.2_Missense_Mutation_p.G647E|CDH4_uc002ybp.2_Missense_Mutation_p.G610E NM_001794 NP_001785 P55283 CADH4_HUMAN Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA. 684 Cadherin 5. adherens junction organization|cell junction assembly calcium ion binding p.A683A(2)|p.G684W(1) 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) CTGGAGGCCGGGATGTATGAC 0.552000 55 45 0 0 0.003610 0 0 HRC 3270 broad.mit.edu 37 19 49657367 49657367 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:49657367C>T uc002pmv.3 - 0 1315 c.1128G>A c.(1126-1128)gaG>gaA p.E376E NM_002152 NP_002143 P23327 SRCH_HUMAN Homo sapiens histidine rich calcium binding protein (HRC), mRNA. 376 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) CTTCCTCTTCCTCATCTACAA 0.532000 85 11 0 0 0.000978 0 0 ARSE 415 broad.mit.edu 37 X 2853151 2853151 + Missense_Mutation SNP A C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:2853151A>C uc011mhh.2 - 11 2028 c.1567T>G c.(1567-1569)Tgc>Ggc p.C523G ARSE_uc011mhi.2_Missense_Mutation_p.C444G|ARSE_uc004crc.4_Missense_Mutation_p.C498G P51690 ARSE_HUMAN Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA. 498 skeletal system development Golgi stack arylsulfatase activity|metal ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 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) AAGCACGGGCAGACCTTTCTT 0.522000 13 13 0 0 0.004990 0 0 MCOLN1 57192 broad.mit.edu 37 19 7593136 7593136 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:7593136C>T uc002mgo.3 + 6 1011 c.870C>T c.(868-870)ttC>ttT p.F290F MCOLN1_uc002mgp.3_Silent_p.F255F NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN Homo sapiens mucolipin 1 (MCOLN1), mRNA. 290 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCAGTGTCTTCCAGCACGGTG 0.647000 22 17 0 0 0.004990 0 0 PLG 5340 broad.mit.edu 37 6 161143576 161143576 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:161143576G>A uc003qtm.4 + 9 1345 c.1233G>A c.(1231-1233)aaG>aaA p.K411K NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 411 Kringle 4. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) GGCACCAGAAGACCCCAGAAA 0.478000 17 24 0 0 0.004656 0 0 ITGA2B 3674 broad.mit.edu 37 17 42457127 42457127 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:42457127G>A uc002igt.1 - 17 1840 c.1808C>T c.(1807-1809)tCc>tTc p.S603F ITGA2B_uc002igu.1_Missense_Mutation_p.S84F NM_000419 NP_000410 P08514 ITA2B_HUMAN Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA. 603 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GGGCGGTAGGGACACATTGAG 0.612000 84 59 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140203277 140203277 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:140203277C>T uc003lhl.2 + 0 1917 c.1917C>T c.(1915-1917)acC>acT p.T639T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.T639T|PCDHAC2_uc003lhj.1_Silent_p.T639T NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 651 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGATGAGACCGAAGCACCGC 0.642000 42 20 0 0 0.010504 0 0 HSD17B2 3294 broad.mit.edu 37 16 82101883 82101883 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:82101883G>A uc002fgv.3 + 1 546 c.374G>A c.(373-375)cGa>cAa p.R125Q NM_002153 NP_002144 P37059 DHB2_HUMAN Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA. 125 response to retinoic acid|steroid biosynthetic process endoplasmic reticulum membrane|integral to membrane 17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 NADH(DB00157) GAGGAATTGCGAAGAACCTGC 0.527000 22 21 0 0 0.008871 0 0 MUC17 140453 broad.mit.edu 37 7 100681386 100681386 + Missense_Mutation SNP T A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:100681386T>A uc003uxp.1 + 2 6742 c.6689T>A c.(6688-6690)aTg>aAg p.M2230K MUC17_uc010lho.1_Non-coding_Transcript NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN Homo sapiens mucin 17, cell surface associated (MUC17), mRNA. 2230 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTCAGCACCATGCCGGTAGTT 0.502000 329 56 0 0 0.003610 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14417545 14417545 + RNA SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:14417545T>C uc002yiy.3 + 2 c.2820T>C ANKRD30BP2_uc002yja.4_Non-coding_Transcript Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA. GTGGAATTTTTACTGACAAAA 0.299000 8 3 0 0 0.004672 0 0 OR4D10 390197 broad.mit.edu 37 11 59244987 59244987 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:59244987C>T uc001nnz.1 + 0 85 c.85C>T c.(85-87)Ctt>Ttt p.L29F NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA. 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AGTCTTATTTCTTTTCCTACT 0.423000 98 72 0 0 0.003610 0 0 ARHGAP11B 89839 broad.mit.edu 37 15 30938440 30938440 + RNA SNP A G G rs115448147 by1000genomes TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:30938440A>G uc010azv.1 + 10 c.1250A>G ARHGAP11B_uc001zeu.3_Non-coding_Transcript|LOC100288637_uc001zev.3_Non-coding_Transcript Q3KRB8 RHGBB_HUMAN Homo sapiens Rho GTPase activating protein 11B (ARHGAP11B), mRNA. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|prostate(1) 8 all_lung(180;2.71e-09)|Breast(32;0.00116) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CTCCTTTGCTATTTGTGCATG 0.493000 29 3 0 0 0.004672 0 0 ZNF212 7988 broad.mit.edu 37 7 148951021 148951021 + Missense_Mutation SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:148951021C>G uc003wfp.3 + 4 1131 c.1003C>G c.(1003-1005)Ctg>Gtg p.L335V NM_012256 NP_036388 Q9UDV6 ZN212_HUMAN Homo sapiens zinc finger protein 212 (ZNF212), mRNA. 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|identical protein binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1) 9 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) GGCCACACATCTGCGCAGCCA 0.577000 56 18 0 0 0.004990 0 0 DSCAM 1826 broad.mit.edu 37 21 42080602 42080602 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:42080602G>A uc002yyq.1 - 1 591 c.139C>T c.(139-141)Ccc>Tcc p.P47S DSCAM_uc002yyr.1_Non-coding_Transcript NM_001389 NP_001380 O60469 DSCAM_HUMAN Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA. 47 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCTGCTGCGGGGCAGGGCACC 0.592000 91 55 0 0 0.003610 0 0 CEACAM1 634 broad.mit.edu 37 19 43031363 43031363 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:43031363C>T uc002otv.3 - 1 389 c.254G>A c.(253-255)gGa>gAa p.G85E AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.G85E|CEACAM1_uc002otw.3_Missense_Mutation_p.G85E|CEACAM1_uc002otx.3_Missense_Mutation_p.G85E|CEACAM1_uc002oty.3_Missense_Mutation_p.G85E|CEACAM1_uc002otz.3_Missense_Mutation_p.G85E|CEACAM1_uc010eik.3_Missense_Mutation_p.G85E|CEACAM1_uc002oua.3_Missense_Mutation_p.G85E|CEACAM1_uc002oub.3_Missense_Mutation_p.G85E|CEACAM1_uc002ouc.3_Missense_Mutation_p.G85E NM_001712 NP_001703 P13688 CEAM1_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA. 85 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) TTGTTGAGTTCCTATTGCATA 0.507000 214 21 0 0 0.005443 0 0 RIMS1 22999 broad.mit.edu 37 6 72889559 72889559 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:72889559C>T uc003pga.3 + 4 830 c.753C>T c.(751-753)gcC>gcT p.A251A RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA. 251 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane Rab GTPase binding|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CGCAGCAAGCCTTGGGGCCTG 0.557000 10 13 0 0 0.001855 0 0 DPYD 1806 broad.mit.edu 37 1 97981298 97981298 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:97981298G>A uc001drv.3 - 12 1861 c.1724C>T c.(1723-1725)aCt>aTt p.T575I NM_000110 NP_000101 Q12882 DPYD_HUMAN Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA. 575 'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AAGAGAGAAAGTTTTGGTGAG 0.328000 23 12 0 0 0.001368 0 0 C1QTNF1 114897 broad.mit.edu 37 17 77040134 77040134 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:77040134C>T uc002jwt.3 + 0 460 c.378C>T c.(376-378)ccC>ccT p.P126P C1QTNF1_uc002jwp.3_Silent_p.P28P|C1QTNF1_uc002jwq.3_Intron|C1QTNF1_uc002jwr.4_Silent_p.P38P|C1QTNF1_uc002jws.3_Silent_p.P28P NM_198594 NP_940996 Q9BXJ1 C1QT1_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA. 28 Collagen-like. collagen breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2) 14 BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201) GTCGTGTGCCCCATGTCCAGG 0.662000 41 28 0 0 0.006320 0 0 LRRC16B 90668 broad.mit.edu 37 14 24530818 24530818 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:24530818C>T uc001wlj.2 + 26 2574 c.2417C>T c.(2416-2418)cCc>cTc p.P806L LRRC16B_uc001wlk.2_5'Flank NM_138360 NP_612369 Q8ND23 LR16B_HUMAN Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA. 806 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GTCACTGTGCCCCGGAACTTC 0.602000 38 11 0 0 0.002450 0 0 ZBTB20 26137 broad.mit.edu 37 3 114057948 114057948 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:114057948C>T uc003ebi.3 - 4 2310 c.2130G>A c.(2128-2130)acG>acA p.T710T ZBTB20_uc003ebj.3_Silent_p.T637T|ZBTB20_uc010hqp.3_Silent_p.T637T|ZBTB20_uc003ebk.3_Silent_p.T637T|ZBTB20_uc003ebl.3_Silent_p.T637T|ZBTB20_uc003ebm.3_Silent_p.T637T|ZBTB20_uc003ebn.3_Silent_p.T637T NM_001164342 NP_056457 Q9HC78 ZBT20_HUMAN Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA. 710 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TGGTCCCCTCCGTGCAGGCCA 0.632000 31 24 0 0 0.002299 0 0 LRP1B 53353 broad.mit.edu 37 2 141459374 141459374 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:141459374C>T uc002tvj.1 - 39 7315 c.6343G>A c.(6343-6345)Gat>Aat p.D2115N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 2115 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) TCTGTGGCATCATTCTTGTGG 0.428000 TSP Lung(27;0.18) 38 27 0 0 0.009535 0 0 CKAP5 9793 broad.mit.edu 37 11 46801774 46801774 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:46801774G>A uc001ndi.2 - 19 2529 c.2403C>T c.(2401-2403)ctC>ctT p.L801L CKAP5_uc009ylg.1_Silent_p.L687L|CKAP5_uc001ndj.2_Silent_p.L801L|Metazoa_SRP_uc021qiq.1_5'Flank NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA. 801 G2/M transition of mitotic cell cycle|RNA transport|cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|mitotic prometaphase|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCTGGGATAGGAGGGCAGGCT 0.453000 29 18 0 0 0.008871 0 0 MLL 4297 broad.mit.edu 37 11 118362000 118362000 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:118362000C>T uc001pta.3 + 13 4809 c.4786C>T c.(4786-4788)Cat>Tat p.H1596Y MLL_uc001ptb.3_Missense_Mutation_p.H1596Y|MLL_uc001pte.1_Non-coding_Transcript NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 1596 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TCGCTGGGTCCATTCCAAATG 0.388000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 63 22 0 0 0.004656 0 0 FGF7 2252 broad.mit.edu 37 15 49775436 49775436 + Silent SNP A G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr15:49775436A>G uc001zxn.3 + 2 904 c.375A>G c.(373-375)ggA>ggG p.G125G C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron NM_002009 NP_002000 P21781 FGF7_HUMAN Homo sapiens fibroblast growth factor 7 (FGF7), mRNA. 125 actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth chemoattractant activity|growth factor activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_lung(180;0.00391) all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05) Palifermin(DB00039) ACAAGGAAGGAAAACTCTATG 0.343000 18 5 0 0 0.001168 0 0 GBP6 163351 broad.mit.edu 37 1 89844118 89844118 + Missense_Mutation SNP G A A rs144008165 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:89844118G>A uc001dnf.2 + 4 845 c.571G>A c.(571-573)Ggt>Agt p.G191S GBP6_uc010ost.1_Missense_Mutation_p.G61S NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA. 191 GTP binding|GTPase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GAAGTTGAACGGTCACCCTAT 0.493000 79 24 0 0 0.003954 0 0 RIBC1 158787 broad.mit.edu 37 X 53457879 53457879 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:53457879C>T uc004dsk.3 + 7 1287 c.1083C>T c.(1081-1083)atC>atT p.I361I NM_001031745 NP_001026915 Q8N443 RIBC1_HUMAN Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA. 361 lung(2) 2 ATTCAGTAATCTACACCAATC 0.498000 104 9 0 0 0.000978 0 0 UNC93A 54346 broad.mit.edu 37 6 167721377 167721377 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:167721377G>A uc003qvq.3 + 6 1262 c.1087G>A c.(1087-1089)Gtc>Atc p.V363I UNC93A_uc003qvr.3_Missense_Mutation_p.V321I NM_018974 NP_061847 Q86WB7 UN93A_HUMAN Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA. 363 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) GGCAGATGCCGTCTGGCAGAC 0.607000 10 20 0 0 0.010504 0 0 SCNN1D 6339 broad.mit.edu 37 1 1221451 1221451 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:1221451G>A uc001adt.1 + 6 930 c.704G>A c.(703-705)gGc>gAc p.G235D SCNN1D_uc001adu.1_Missense_Mutation_p.G71D|SCNN1D_uc001adw.2_Missense_Mutation_p.G137D|SCNN1D_uc001adv.2_Missense_Mutation_p.G71D|SCNN1D_uc001adx.2_5'UTR NM_001130413 NP_001123885 Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA. lung(6)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) ACCATCCACGGCGCCATCCGC 0.701000 7 6 0 0 0.001168 0 0 STIL 6491 broad.mit.edu 37 1 47735459 47735459 + Silent SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:47735459G>T uc001crd.1 - 13 2618 c.2463C>A c.(2461-2463)tcC>tcA p.S821S TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.S774S|STIL_uc010omo.1_Silent_p.S821S|STIL_uc001crc.1_Silent_p.S821S|STIL_uc001cre.1_Silent_p.S821S|STIL_uc001crf.1_Silent_p.S434S|STIL_uc001crg.1_Silent_p.S774S NM_001048166 NP_001041631 Q15468 STIL_HUMAN Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA. 821 cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TGTCCTCACTGGAAATTTTGG 0.378000 55 11 6.40141e-05 6.84719e-05 0.000978 1 0 RBPJ 3516 broad.mit.edu 37 4 26432080 26432080 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:26432080G>A uc003grx.2 + 10 1359 c.1123G>A c.(1123-1125)Gga>Aga p.G375R RBPJ_uc003gry.2_Missense_Mutation_p.G360R|RBPJ_uc003grz.2_Missense_Mutation_p.G375R|RBPJ_uc003gsa.2_Missense_Mutation_p.G361R|RBPJ_uc003gsb.2_Missense_Mutation_p.G362R NM_005349 NP_005340 Q06330 SUH_HUMAN Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA. 375 IPT/TIG. DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target cytoplasm|nucleolus|nucleoplasm DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1) 15 Breast(46;0.0503) TGAACTTACAGGACAGAATTT 0.383000 27 34 0 0 0.004289 0 0 OR2A5 393046 broad.mit.edu 37 7 143748039 143748039 + Missense_Mutation SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:143748039T>C uc011ktw.2 + 0 545 c.545T>C c.(544-546)cTg>cCg p.L182P NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I181I(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) TGTGAAATCCTGTCTGTCCTC 0.567000 98 136 0 0 0.003610 0 0 EVC2 132884 broad.mit.edu 37 4 5624705 5624705 + Missense_Mutation SNP C T T rs144420242 byFrequency TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:5624705C>T uc003gij.3 - 13 2114 c.2060G>A c.(2059-2061)cGt>cAt p.R687H EVC2_uc003gik.3_Missense_Mutation_p.R607H|EVC2_uc011bwb.2_Missense_Mutation_p.R127H NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 687 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 CTGCTCCCTACGCTGCTCCCT 0.592000 34 19 0 0 0.006122 0 0 OR5B21 219968 broad.mit.edu 37 11 58274899 58274899 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:58274899G>A uc010rki.2 - 0 680 c.680C>T c.(679-681)tCt>tTt p.S227F NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA. 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Esophageal squamous(5;0.0027) Breast(21;0.0778) CCCTTCAGCAGAATGCATCCT 0.453000 79 15 0 0 0.004007 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58598304 58598304 + Missense_Mutation SNP G C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:58598304G>C uc010yht.1 - 4 912 c.882C>G c.(880-882)aaC>aaG p.N294K ZSCAN18_uc002qrj.3_Missense_Mutation_p.N238K|ZSCAN18_uc010yhs.1_Missense_Mutation_p.N103K|ZSCAN18_uc002qrh.2_Missense_Mutation_p.N238K|ZSCAN18_uc002qri.2_Missense_Mutation_p.N238K|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR NM_001145542 NP_001139014 Q8TBC5 ZSC18_HUMAN Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA. 238 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCTCTTCAGGTTCTCCTCGG 0.637000 58 6 0 0 0.001168 0 0 AFM 173 broad.mit.edu 37 4 74363443 74363443 + Missense_Mutation SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:74363443G>T uc003hhb.3 + 9 1297 c.1266G>T c.(1264-1266)ttG>ttT p.L422F NM_001133 NP_001124 P43652 AFAM_HUMAN Homo sapiens afamin (AFM), mRNA. 422 Albumin 3. vitamin transport vitamin E binding breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 32 Breast(15;0.00102) Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCAGAATTTGGGGAAGGATG 0.363000 13 9 6.40141e-05 6.84719e-05 0.000978 1 0 LLGL1 3996 broad.mit.edu 37 17 18137691 18137691 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:18137691G>A uc002gsp.3 + 6 880 c.819G>A c.(817-819)acG>acA p.T273T NM_004140 NP_004131 Q15334 L2GL1_HUMAN Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA. 273 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) GCTTCCCAACGCTGCAGCCCA 0.617000 18 4 0 0 0.000602 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560359 44560359 + Missense_Mutation SNP G A A rs150911848 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr18:44560359G>A uc002lcr.1 - 0 1630 c.1277C>T c.(1276-1278)tCg>tTg p.S426L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 426 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTTCTTAGCCGAATCCCAGGA 0.547000 94 20 0 0 0.007413 0 0 KIAA0513 9764 broad.mit.edu 37 16 85100908 85100908 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:85100908C>T uc002fiu.3 + 1 451 c.231C>T c.(229-231)tcC>tcT p.S77S KIAA0513_uc010voj.2_Silent_p.S77S|KIAA0513_uc002fit.3_Silent_p.S77S NM_014732 NP_055547 O60268 K0513_HUMAN Homo sapiens KIAA0513 (KIAA0513), mRNA. 77 cytoplasm breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1) 18 BRCA - Breast invasive adenocarcinoma(80;0.234) CCAACGAGTCCTTCTCCTCCA 0.592000 53 12 0 0 0.001368 0 0 ANKRD49 54851 broad.mit.edu 37 11 94231258 94231258 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:94231258C>T uc001pew.3 + 2 419 c.280C>T c.(280-282)Ctt>Ttt p.L94F ANKRD49_uc001pex.3_3'UTR|ANKRD49_uc001pey.3_Non-coding_Transcript NM_017704 NP_060174 Q8WVL7 ANR49_HUMAN Homo sapiens ankyrin repeat domain 49 (ANKRD49), mRNA. 94 positive regulation of transcription, DNA-dependent autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1) 12 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCGGAGACTCCTTTCTGAAAA 0.408000 43 39 0 0 0.007835 0 0 IGH 0 broad.mit.edu 37 16 33020717 33020717 + RNA SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:33020717C>T uc021thd.1 + 0 c.65C>T Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:kh0004h. CTGTCCTGTCCAGCCTCTGGA 0.577000 118 105 0 0 0.003610 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35510325 35510325 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:35510325G>A uc010xsf.1 + 12 1378 c.1378G>A c.(1378-1380)Ggg>Agg p.G460R GRAMD1A_uc010xse.1_Missense_Mutation_p.G455R|GRAMD1A_uc002nxk.2_Missense_Mutation_p.G448R|GRAMD1A_uc002nxl.2_Missense_Mutation_p.G221R|GRAMD1A_uc002nxn.1_Missense_Mutation_p.G70R NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA. 455 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCAGGCCGGCGGGTGTGTGGT 0.687000 70 18 0 0 0.007413 0 0 GLP2R 9340 broad.mit.edu 37 17 9783717 9783717 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:9783717C>T uc002gmd.1 + 10 1168 c.1168C>T c.(1168-1170)Ctc>Ttc p.L390F NM_004246 NP_004237 O95838 GLP2R_HUMAN Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA. 390 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) AACACTGGTCCTCATTCCTTT 0.413000 122 69 0 0 0.003610 0 0 CDH12 1010 broad.mit.edu 37 5 21752058 21752058 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:21752058C>T uc010iuc.2 - 11 2631 c.2173G>A c.(2173-2175)Gat>Aat p.D725N CDH12_uc011cno.1_Missense_Mutation_p.D685N|CDH12_uc003jgk.2_Missense_Mutation_p.D725N|BC038535_uc003jgj.3_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 725 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D725D(1) 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 GGATCCACATCATTTTCCTGT 0.483000 HNSCC(59;0.17) 52 37 0 0 0.003755 0 0 SPON1 10418 broad.mit.edu 37 11 14284295 14284295 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:14284295G>A uc001mle.3 + 15 2299 c.2031G>A c.(2029-2031)tcG>tcA p.S677S NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA. 678 TSP type-1 5. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CCCAGTGGTCGGAATGTAACA 0.532000 33 18 0 0 0.007413 0 0 SLC1A1 6505 broad.mit.edu 37 9 4567670 4567670 + Splice_Site SNP A G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr9:4567670A>G uc003zij.2 + 6 737 c.484_splice c.e6-1 p.Y162_splice SPATA6L_uc003zik.3_Intron NM_004170 NP_004161 P43005 EAA3_HUMAN Homo sapiens solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 (SLC1A1), mRNA. 162 D-aspartate import|L-glutamate import|synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1) 15 Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457) GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183) L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142) AACATGCAGTACAAAACTAAG 0.388000 10 9 0 0 0.008291 0 0 C1orf172 126695 broad.mit.edu 37 1 27278858 27278858 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:27278858C>T uc001bni.2 - 1 107 c.14G>A c.(13-15)gGa>gAa p.G5E BC016143_uc021ojq.1_Intron NM_152365 NP_689578 Q8NAX2 CA172_HUMAN Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA. 5 Pro-rich. NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 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;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GCGGGGGTGTCCAGGGCGGGG 0.617000 55 39 0 0 0.006999 0 0 CNPPD1 27013 broad.mit.edu 37 2 220039719 220039719 + Silent SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:220039719C>G uc002vju.4 - 3 524 c.372G>C c.(370-372)ctG>ctC p.L124L CNPPD1_uc002vjv.3_Silent_p.L124L NM_015680 NP_056495 Q9BV87 CNPD1_HUMAN Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA. 124 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CCATGGAGATCAGGAACAAGT 0.547000 63 13 0 0 0.003163 0 0 PRDM14 63978 broad.mit.edu 37 8 70981781 70981781 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr8:70981781G>A uc003xym.3 - 1 517 c.315C>T c.(313-315)ccC>ccT p.P105P NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN Homo sapiens PR domain containing 14 (PRDM14), mRNA. 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) TGGGGACGTGGGGAATTGGGT 0.637000 8 11 0 0 0.008291 0 0 UMODL1 89766 broad.mit.edu 37 21 43547871 43547871 + Missense_Mutation SNP A T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr21:43547871A>T uc002zag.1 + 18 4004 c.4004A>T c.(4003-4005)aAc>aTc p.N1335I UMODL1_uc002zad.1_Missense_Mutation_p.N1135I|UMODL1_uc002zae.1_Missense_Mutation_p.N1263I|UMODL1_uc002zaf.1_Missense_Mutation_p.N1207I|UMODL1_uc002zal.1_Missense_Mutation_p.N157I|UMODL1_uc010gpa.1_Non-coding_Transcript NM_173568 NP_001186456 Q5DID0 UROL1_HUMAN Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA. 1207 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 TCCTTTATCAACGACTCCATC 0.488000 61 12 0 0 0.001855 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713657 30713657 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:30713657C>T uc003ceo.3 + 3 1364 c.982C>T c.(982-984)Cac>Tac p.H328Y TGFBR2_uc021wut.1_Missense_Mutation_p.H206Y|TGFBR2_uc003cen.3_Missense_Mutation_p.H353Y NM_003242 NP_003233 P37173 TGFR2_HUMAN Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA. 328 Protein kinase. H -> Y (in a lung neuroendocrine carcinoma sample; somatic mutation). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding p.H328Y(2) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2) 53 CACCGCCTTCCACGCCAAGGG 0.587000 47 37 0 0 0.004289 0 0 ATP1B2 482 broad.mit.edu 37 17 7554890 7554890 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:7554890G>A uc002gif.1 + 0 637 c.54G>A c.(52-54)aaG>aaA p.K18K NM_001678 NP_001669 P14415 AT1B2_HUMAN Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA. 18 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) AGGAGTGGAAGGAGTTCGTGT 0.692000 8 9 0 0 0.006214 0 0 ZNF195 7748 broad.mit.edu 37 11 3381179 3381179 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:3381179G>A uc001lxt.3 - 5 1241 c.1059C>T c.(1057-1059)ccC>ccT p.P353P ZNF195_uc010qxr.2_Silent_p.P334P|ZNF195_uc009ydz.3_Silent_p.P308P|ZNF195_uc001lxu.3_Silent_p.P285P|ZNF195_uc001lxv.3_Silent_p.P330P|ZNF195_uc021qck.1_Silent_p.P285P|ZNF195_uc001lxs.3_Silent_p.P281P NM_001130520 NP_001123992 O14628 ZN195_HUMAN Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA. 353 Missing (in Ref. 2; BAD18466). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D352Y(1) endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1) 17 Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965) BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2) CATATTTGCAGGGTTTTTCCT 0.418000 99 49 0 0 0.003610 0 0 SCN10A 6336 broad.mit.edu 37 3 38793930 38793930 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:38793930C>T uc003ciq.3 - 10 1535 c.1535G>A c.(1534-1536)cGa>cAa p.R512Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 512 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) TGAGATATCTCGGCCAGGGGA 0.587000 45 9 0 0 0.000978 0 0 LRP6 4040 broad.mit.edu 37 12 12300476 12300476 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr12:12300476G>A uc001rah.4 - 14 3363 c.3221C>T c.(3220-3222)aCc>aTc p.T1074I BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.T1074I NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1074 Beta-propeller 4. Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) CTGAAGATTGGTAAAATACAT 0.378000 187 52 0 0 0.003610 0 0 TPO 7173 broad.mit.edu 37 2 1457561 1457561 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:1457561C>T uc002qwr.3 + 5 664 c.578C>T c.(577-579)cCc>cTc p.P193L TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.P193L|TPO_uc002qwx.3_Missense_Mutation_p.P193L|TPO_uc002qwu.3_Missense_Mutation_p.P193L|TPO_uc010yio.2_Missense_Mutation_p.P193L|TPO_uc010yip.2_Missense_Mutation_p.P193L NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 193 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 p.P193P(1) 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) GGCTGGAACCCCGGCTTCTTG 0.607000 54 5 0 0 0.000602 0 0 PRR15L 79170 broad.mit.edu 37 17 46030598 46030598 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:46030598C>T uc002imp.3 - 1 120 c.3G>A c.(1-3)atG>atA p.M1I PRR15L_uc021tzd.1_Missense_Mutation_p.M1I NM_024320 NP_077296 Q9BU68 PR15L_HUMAN Homo sapiens proline rich 15-like (PRR15L), mRNA. 1 NS(1)|cervix(1)|ovary(1)|pancreas(1) 4 TTTCAGTCGTCATGGCGCTCC 0.547000 82 49 0 0 0.003610 0 0 PLXDC2 84898 broad.mit.edu 37 10 20453447 20453447 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr10:20453447C>T uc001iqg.1 + 6 1471 c.834C>T c.(832-834)gtC>gtT p.V278V PLXDC2_uc001iqh.1_Silent_p.V229V|PLXDC2_uc009xkc.1_Non-coding_Transcript NM_032812 NP_116201 Q6UX71 PXDC2_HUMAN Homo sapiens plexin domain containing 2 (PLXDC2), mRNA. 278 integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CAGTGAAAGTCGGACTGTCCG 0.428000 9 10 0 0 0.001855 0 0 VWA5A 4013 broad.mit.edu 37 11 123989325 123989325 + Silent SNP C G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:123989325C>G uc001pzu.3 + 5 764 c.555C>G c.(553-555)acC>acG p.T185T VWA5A_uc001pzr.3_Silent_p.T185T|VWA5A_uc001pzs.3_Silent_p.T185T|VWA5A_uc010sae.2_Silent_p.T201T|VWA5A_uc001pzt.3_Silent_p.T185T NM_001130142 NP_055437 O00534 VMA5A_HUMAN Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA. 185 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TGGTCGCCACCATAGATTCCC 0.502000 104 15 0 0 0.002450 0 0 STAB1 23166 broad.mit.edu 37 3 52557513 52557513 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:52557513G>A uc003dej.3 + 64 7285 c.7211G>A c.(7210-7212)gGg>gAg p.G2404E STAB1_uc003dek.1_Missense_Mutation_p.G419E|STAB1_uc003del.3_Missense_Mutation_p.G291E NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 2404 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) GCCAGCCAGGGGAAGTTGCTT 0.632000 26 21 0 0 0.010504 0 0 BCOR 54880 broad.mit.edu 37 X 39930225 39930225 + Splice_Site SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:39930225C>A uc004den.4 - 6 3530 c.3238_splice c.e6+1 p.C1080_splice BCOR_uc004dep.4_Splice_Site_p.C1080_splice|BCOR_uc004deo.4_Splice_Site_p.C1062_splice|BCOR_uc004dem.4_Splice_Site_p.C1080_splice NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA. 1080 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGTTTACTTACATCTCTCACT 0.512000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 76 20 3.51602e-12 3.89092e-12 0.008871 1 0 CCT3 7203 broad.mit.edu 37 1 156303399 156303399 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:156303399G>A uc001fol.2 - 4 474 c.243C>T c.(241-243)atC>atT p.I81I CCT3_uc010phj.2_Silent_p.I35I|CCT3_uc010phk.2_Silent_p.I35I|CCT3_uc001fon.2_Silent_p.I43I|CCT3_uc010phl.2_Silent_p.I35I NM_005998 NP_005989 P49368 TCPG_HUMAN Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA. 81 '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) GGCTAATTTCGATCATGGACT 0.423000 78 21 0 0 0.004656 0 0 MYH9 4627 broad.mit.edu 37 22 36689888 36689888 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr22:36689888C>T uc003apg.3 - 28 4090 c.3859G>A c.(3859-3861)Ggg>Agg p.G1287R NM_002473 NP_002464 P35579 MYH9_HUMAN Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA. 1287 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CTGAGAAGCCCGGTCACGTTG 0.632000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 21 7 0 0 0.001984 0 0 ALDH2 217 broad.mit.edu 37 12 112219760 112219760 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr12:112219760G>A uc001tst.3 + 1 249 c.153G>A c.(151-153)agG>agA p.R51R ALDH2_uc010syi.2_Silent_p.R51R NM_000690 NP_000681 P05091 ALDH2_HUMAN Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 51 carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process mitochondrial matrix aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity p.R51K(1) NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 22 Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727) CCGTCAGCAGGAAAACATTCC 0.483000 T HMGA2 leiomyoma 20 30 0 0 0.002445 0 0 OR2F1 26211 broad.mit.edu 37 7 143657103 143657103 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:143657103C>T uc003wds.1 + 0 84 c.40C>T c.(40-42)Ctc>Ttc p.L14F NM_012369 NP_036501 Q13607 OR2F1_HUMAN Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA. 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4) 34 Melanoma(164;0.0903) TGAATTTATTCTCCTCGGCCT 0.448000 91 242 0 0 0.003610 0 0 TUB 7275 broad.mit.edu 37 11 8111659 8111659 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:8111659C>T uc001mga.3 + 2 283 c.134C>T c.(133-135)cCc>cTc p.P45L TUB_uc010rbk.2_Missense_Mutation_p.P51L|TUB_uc001mfy.3_Missense_Mutation_p.P100L NM_177972 NP_813977 P50607 TUB_HUMAN Homo sapiens tubby homolog (mouse) (TUB), transcript variant 2, mRNA. 45 phagocytosis|positive regulation of phagocytosis|response to stimulus cytoplasm|extracellular region|nucleus|plasma membrane breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17) Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184) CGCCAGGAGCCCCTGATGGTG 0.677000 10 13 0 0 0.002450 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142162184 142162184 + Missense_Mutation SNP T C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:142162184T>C uc011krx.2 - 1 106 c.91A>G c.(91-93)Atc>Gtc p.I31V TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc022ani.1_Non-coding_Transcript|BV13S6J2.1_uc011krw.2_Missense_Mutation_p.I31V SubName: Full=BV13S6J2.1 protein; Flags: Fragment; ATCTTCAGGATGCGGAATTTT 0.522000 135 5 0 0 0.000602 0 0 ARG1 383 broad.mit.edu 37 6 131904498 131904498 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr6:131904498G>A uc003qcp.2 + 6 748 c.669G>A c.(667-669)aaG>aaA p.K223K ARG1_uc003qco.2_Intron|ARG1_uc010kfm.2_Silent_p.K231K|MED23_uc003qcq.3_Intron NM_000045 NP_000036 P05089 ARGI1_HUMAN Homo sapiens arginase, liver (ARG1), transcript variant 2, mRNA. 223 arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) TTAAAAGAAAGAAAAGGCCAA 0.393000 43 14 0 0 0.001855 0 0 ASIC4 55515 broad.mit.edu 37 2 220379942 220379942 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:220379942C>T uc002vlz.3 + 0 1051 c.877C>T c.(877-879)Ctc>Ttc p.L293F ASIC4_uc010fwi.2_Missense_Mutation_p.L293F|ASIC4_uc010fwj.2_Missense_Mutation_p.L293F|ASIC4_uc002vly.2_Missense_Mutation_p.L293F|ASIC4_uc002vma.3_Missense_Mutation_p.L293F|ASIC4_uc002vmb.3_5'Flank NM_018674 NP_061144 Q96FT7 ACCN4_HUMAN Homo sapiens amiloride-sensitive cation channel 4, pituitary (ACCN4), transcript variant 1, mRNA. 293 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity GGTAGACATCCTCAACCGCAC 0.612000 41 11 0 0 0.000978 0 0 TLR7 51284 broad.mit.edu 37 X 12904189 12904189 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:12904189C>T uc004cvc.3 + 2 701 c.562C>T c.(562-564)Cct>Tct p.P188S NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN Homo sapiens toll-like receptor 7 (TLR7), mRNA. 188 I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) TTATCGAAATCCTTGTTATGT 0.388000 59 11 0 0 0.000978 0 0 OR5D13 390142 broad.mit.edu 37 11 55541346 55541346 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:55541346C>T uc010ril.2 + 0 433 c.433C>T c.(433-435)Ctt>Ttt p.L145F NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) GCTCTGTGCTCTTCTGGTGGC 0.418000 186 82 0 0 0.003610 0 0 OTOP2 92736 broad.mit.edu 37 17 72920943 72920943 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:72920943G>A uc010wrp.2 + 1 308 c.216G>A c.(214-216)ctG>ctA p.L72L USH1G_uc002jme.1_5'Flank|USH1G_uc010wro.1_5'Flank|OTOP2_uc002jmf.1_Silent_p.L72L NM_178160 NP_835454 Q7RTS6 OTOP2_HUMAN Homo sapiens otopetrin 2 (OTOP2), mRNA. 72 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) TGATGCTGCTGGCAACGCTCT 0.662000 16 7 0 0 0.001984 0 0 SIRPB1 10326 broad.mit.edu 37 20 1552525 1552525 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr20:1552525C>T uc010gai.3 - 2 691 c.592G>A c.(592-594)Gac>Aac p.D198N SIRPB1_uc002wfk.4_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA. 198 Ig-like C1-type 1. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding p.D198G(1) central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 CCTGCGGGGTCCACGTTGGTC 0.557000 75 45 0 0 0.003610 0 0 DNAH10 196385 broad.mit.edu 37 12 124411202 124411202 + Missense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr12:124411202G>A uc001uft.4 + 67 11611 c.11586G>A c.(11584-11586)atG>atA p.M3862I DNAH10_uc001ufu.4_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA. 3862 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGCCCCCAATGATCAGCTTTG 0.517000 17 25 0 0 0.004656 0 0 CASP3 836 broad.mit.edu 37 4 185550459 185550459 + Silent SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:185550459G>T uc003iwh.3 - 7 1064 c.801C>A c.(799-801)tcC>tcA p.S267S CASP3_uc003iwg.3_3'UTR|CASP3_uc003iwi.3_Silent_p.S267S NM_004346 NP_116786 P42574 CASP3_HUMAN Homo sapiens caspase 3, apoptosis-related cysteine peptidase (CASP3), transcript variant alpha, mRNA. 267 DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) TTGTGAGCATGGAAACAATAC 0.368000 123 21 1.9806e-07 2.15453e-07 0.002299 1 0 CNTD1 124817 broad.mit.edu 37 17 40956324 40956324 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr17:40956324G>A uc002ibm.4 + 2 559 c.327G>A c.(325-327)tgG>tgA p.W109* CNTD1_uc010wha.2_Nonsense_Mutation_p.W26* NM_173478 NP_775749 Q8N815 CNTD1_HUMAN Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA. 109 Cyclin N-terminal. central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTCAGAATTGGAGGGCTCTGA 0.473000 75 40 0 0 0.003214 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149132 142149132 + Missense_Mutation SNP C A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:142149132C>A uc010lnw.1 - 1 221 c.139G>T c.(139-141)Ggg>Tgg p.G47W TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; CTCTTGTGCCCAGAGATAGGA 0.517000 102 20 4.63292e-17 5.17164e-17 0.008871 1 0 SMARCA2 6595 broad.mit.edu 37 9 2123808 2123808 + Silent SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr9:2123808C>T uc003zhc.3 + 26 3951 c.3852C>T c.(3850-3852)atC>atT p.I1284I SMARCA2_uc003zhd.3_Silent_p.I1284I|SMARCA2_uc010mha.3_Silent_p.I1217I NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 1284 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development SWI/SNF complex|WINAC complex|intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm ATP binding|DNA-dependent ATPase activity|RNA polymerase II transcription coactivator activity|helicase activity|protein binding|transcription regulatory region DNA binding p.D1284G(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CCTCCTGGATCATTAAGGATG 0.567000 10 15 0 0 0.004007 0 0 SCFD1 23256 broad.mit.edu 37 14 31169460 31169460 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr14:31169460C>T uc001wqm.1 + 15 1430 c.1406C>T c.(1405-1407)tCt>tTt p.S469F SCFD1_uc001wqn.1_Missense_Mutation_p.S402F|SCFD1_uc010tpg.1_Missense_Mutation_p.S410F|SCFD1_uc010tph.1_Missense_Mutation_p.S284F|SCFD1_uc010amf.1_Missense_Mutation_p.S284F|SCFD1_uc010tpi.1_Missense_Mutation_p.S377F|SCFD1_uc010amd.1_Missense_Mutation_p.S301F NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA. 469 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis Golgi cisterna membrane|Golgi-associated vesicle|cis-Golgi network|endoplasmic reticulum membrane|plasma membrane syntaxin-5 binding endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1) 13 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) CAAGCACCTTCTGAGGTATGT 0.358000 60 15 0 0 0.002450 0 0 OR51B4 79339 broad.mit.edu 37 11 5322610 5322610 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:5322610G>A uc010qza.2 - 0 567 c.567C>T c.(565-567)atC>atT p.I189I HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_033179 NP_149419 Q9Y5P0 O51B4_HUMAN Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA. 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTAAACGTGATATCAGCAC 0.373000 47 24 0 0 0.005443 0 0 HTA 283902 broad.mit.edu 37 16 73127399 73127399 + RNA SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:73127399G>A uc010vmq.2 + 2 c.805G>A Homo sapiens uncharacterized LOC283902 (HTA), non-coding RNA. AGAAGAGATGGAGTCATAGCT 0.572000 9 4 0 0 0.009096 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147040720 147040720 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr5:147040720C>T uc010jgo.1 - 1 566 c.418G>A c.(418-420)Gag>Aag p.E140K JAKMIP2_uc003loq.1_Missense_Mutation_p.E140K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E98K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E140K|LOC153469_uc003lop.1_3'UTR NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 140 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCGGGCCTCCTCCCGGGCC 0.557000 110 26 0 0 0.005443 0 0 SORL1 6653 broad.mit.edu 37 11 121485591 121485591 + Missense_Mutation SNP A G G TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:121485591A>G uc001pxx.3 + 40 5560 c.5431A>G c.(5431-5433)Aca>Gca p.T1811A SORL1_uc010rzp.1_Missense_Mutation_p.T657A|SORL1_uc010rzq.1_Missense_Mutation_p.T426A NM_003105 NP_003096 Q92673 SORL_HUMAN Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA. 1811 Fibronectin type-III 3. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) TGGCAATCTGACAGCTCATAC 0.468000 73 27 0 0 0.007291 0 0 MTM1 4534 broad.mit.edu 37 X 149809808 149809808 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chrX:149809808C>T uc004fef.4 + 7 671 c.595C>T c.(595-597)Cct>Tct p.P199S MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P162S|MTM1_uc011mxz.2_Missense_Mutation_p.P84S|MTM1_uc010nte.3_Missense_Mutation_p.P67S NM_000252 NP_000243 Q13496 MTM1_HUMAN Homo sapiens myotubularin 1 (MTM1), mRNA. 199 Myotubularin phosphatase. P -> S (in XCNM). endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) TGACACTTACCCTGCTCTTTT 0.423000 61 21 0 0 0.001882 0 0 MYOF 26509 broad.mit.edu 37 10 95111307 95111307 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr10:95111307G>A uc001kin.3 - 33 3808 c.3685C>T c.(3685-3687)Cga>Tga p.R1229* MYOF_uc001kio.3_Nonsense_Mutation_p.R1216*|MYOF_uc009xue.3_Non-coding_Transcript NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1229 C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAAATGCTTCGTCCTAAAAAT 0.428000 70 6 0 0 0.001168 0 0 HPSE 10855 broad.mit.edu 37 4 84231203 84231203 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr4:84231203C>T uc003hoj.4 - 5 970 c.871G>A c.(871-873)Gat>Aat p.D291N HPSE_uc003hoi.3_Missense_Mutation_p.D233N|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.D34N|HPSE_uc003hok.4_Missense_Mutation_p.D291N|HPSE_uc011cct.2_Missense_Mutation_p.D291N NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 291 D -> G (in Ref. 9; BAD96706). carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding p.D291H(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) GTAACTGAATCAATCACTTCT 0.308000 71 58 0 0 0.003610 0 0 FAM5B 57795 broad.mit.edu 37 1 177242650 177242650 + Silent SNP G T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:177242650G>T uc001glf.3 + 4 1008 c.696G>T c.(694-696)ctG>ctT p.L232L FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.L127L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 232 extracellular region p.P231H(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCGGTCCTCTGGGCTGCAGCA 0.488000 37 18 1.01871e-10 1.12088e-10 0.008871 1 0 ERMN 57471 broad.mit.edu 37 2 158178151 158178151 + Nonsense_Mutation SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:158178151G>A uc002tzi.3 - 3 681 c.526C>T c.(526-528)Cga>Tga p.R176* ERMN_uc010zcj.2_Nonsense_Mutation_p.R57*|ERMN_uc002tzh.3_Nonsense_Mutation_p.R163*|ERMN_uc010zck.2_Nonsense_Mutation_p.R143* NM_001009959 NP_065762 Q8TAM6 ERMIN_HUMAN Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA. 163 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 CTAGGTTTTCGAAATCCCAGC 0.418000 65 40 0 0 0.007835 0 0 KCNK18 338567 broad.mit.edu 37 10 118969366 118969366 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr10:118969366G>A uc010qsr.2 + 2 711 c.711G>A c.(709-711)caG>caA p.Q237Q NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA. 237 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) TAGAGAAACAGAACACACTGC 0.532000 34 34 0 0 0.002836 0 0 TRANK1 9881 broad.mit.edu 37 3 36873681 36873681 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr3:36873681C>T uc003cgj.3 - 20 7509 c.7261G>A c.(7261-7263)Gtg>Atg p.V2421M NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2421 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 GCCAGCACCACCCCACAGTGG 0.512000 93 26 0 0 0.002096 0 0 CATSPER4 378807 broad.mit.edu 37 1 26524784 26524784 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:26524784C>T uc010oez.2 + 5 686 c.686C>T c.(685-687)tCc>tTc p.S229F CATSPER4_uc010oey.1_Missense_Mutation_p.S51F|CATSPER4_uc009vsf.3_Intron NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA. 229 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity p.S229S(1) NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) CAGGTTTTTTCCGTGTTTGGA 0.493000 327 73 0 0 0.003610 0 0 PLVAP 83483 broad.mit.edu 37 19 17476249 17476249 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr19:17476249C>T uc002ngk.1 - 2 1065 c.1025G>A c.(1024-1026)cGg>cAg p.R342Q NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 342 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGGGTCTGCCGGGAGCATTC 0.647000 48 12 0 0 0.001855 0 0 INSC 387755 broad.mit.edu 37 11 15247312 15247312 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr11:15247312C>T uc001mlz.3 + 8 1219 c.1108C>T c.(1108-1110)Cgt>Tgt p.R370C INSC_uc001mly.3_Missense_Mutation_p.R417C|INSC_uc001mma.3_Missense_Mutation_p.R370C|INSC_uc010rcs.2_Missense_Mutation_p.R405C|INSC_uc001mmb.3_Missense_Mutation_p.R370C|INSC_uc001mmc.3_Missense_Mutation_p.R328C NM_001042536 NP_001036001 Q1MX18 INSC_HUMAN Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA. 417 cell differentiation|nervous system development cytoplasm binding NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 GAATGCCATCCGTGTTCTCCT 0.572000 26 7 0 0 0.001984 0 0 MYO7B 4648 broad.mit.edu 37 2 128387248 128387249 + Missense_Mutation DNP GG AA AA TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:128387248_128387249GG>AA uc002top.3 + 33 4628_4629 c.4575_4576GG>AA c.(4573-4578)aagggg>aaAAgg p.G1526R MYO7B_uc002tor.1_Missense_Mutation_p.G379R NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN Homo sapiens myosin VIIB (MYO7B), mRNA. 1526 SH3 1. apical plasma membrane|myosin complex ATP binding|actin binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) CCTTCAAGAAGGGGGACCTGTT 0.604000 17 6 0 0 0.004672 0 0 UGT1A1 54658 broad.mit.edu 37 2 234602101 234602101 + Missense_Mutation SNP C T T TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:234602101C>T uc002vuv.4 + 0 590 c.451C>T c.(451-453)Cca>Tca p.P151S UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.P151S NM_001072 NP_001063 P22309 UD11_HUMAN Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA. 152 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding p.D151N(1)|p.T150M(1) breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) TTTCACAGACCCAGCCTTACC 0.512000 84 20 0 0 0.008871 0 0 TRPV4 59341 broad.mit.edu 37 12 110246249 110246249 + Silent SNP G A A TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr12:110246249G>A uc001tpj.2 - 1 506 c.411C>T c.(409-411)gcC>gcT p.A137A TRPV4_uc001tpg.2_Silent_p.A103A|TRPV4_uc021rdp.1_Silent_p.A137A|TRPV4_uc001tph.2_Silent_p.A137A|TRPV4_uc001tpi.2_Silent_p.A137A|TRPV4_uc001tpk.2_Silent_p.A137A NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 137 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GAGGGGCAGGGGCTTTGGGGC 0.657000 25 49 0 0 0.003610 0 0 TBX20 57057 broad.mit.edu 37 7 35293197 35293197 + Missense_Mutation SNP G C C TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:35293197G>C uc011kas.2 - 0 515 c.35C>G c.(34-36)tCc>tGc p.S12C NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA. 12 nucleus DNA binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1) 18 GGCCCGAGAGGAGAGTTGGGG 0.642000 48 13 0 0 0.001855 0 0 BROX 148362 broad.mit.edu 37 1 222902985 222902986 + Frame_Shift_Del DEL TT - - TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr1:222902985_222902986delTT uc001hnq.1 + 9 1175_1176 c.780_781delTT c.(778-783)actttafs p.T260fs BROX_uc010put.1_Frame_Shift_Del_p.T228fs|BROX_uc010puu.1_Frame_Shift_Del_p.T260fs|BROX_uc010puv.1_Frame_Shift_Del_p.T228fs|AK094916_uc001hnr.1_Non-coding_Transcript NM_144695 NP_653296 Q5VW32 BROX_HUMAN Homo sapiens BRO1 domain and CAAX motif containing (BROX), mRNA. 260 BRO1. membrane breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1) 14 ATGGTGAGACTTTATTGGCTAG 0.351 --- 236 --- --- 149 --- NCL 4691 broad.mit.edu 37 2 232325380 232325394 + Splice_Site DEL CTTCCTCCTCCTCTT - - rs147245704 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr2:232325380_232325394delCTTCCTCCTCCTCTT uc002vru.3 - 4 952 c.811_splice c.e4+1 p.E271_splice SNORD82_uc010fxw.1_5'Flank NM_005381 NP_005372 P19338 NUCL_HUMAN Homo sapiens nucleolin (NCL), mRNA. 271 Asp/Glu-rich (acidic). angiogenesis cell cortex|nucleolus|ribonucleoprotein complex RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) ATTTAAGTACCTTCCTCCTCCTCTTCTTCCTCCTC 0.419 --- 89 --- --- 12 --- THSD7A 221981 broad.mit.edu 37 7 11871470 11871481 + In_Frame_Del DEL GCAGCGGCAGCG - - TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:11871470_11871481delGCAGCGGCAGCG uc021zzo.1 - 0 344_355 c.92_103delCGCTGCCGCTGC c.(91-105)ccgctgccgctgctc>ctc p.PLPL31del THSD7A_uc021zzn.1_In_Frame_Del_p.PLPL31del NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA. 31 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) agcagcaggagcagcggcagcggcagcggcag 0.774 HNSCC(18;0.044) --- 7 --- --- 4 --- EXOC4 60412 broad.mit.edu 37 7 133041262 133041262 + Frame_Shift_Del DEL T - - TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr7:133041262delT uc003vrk.3 + 5 977 c.942delT c.(940-942)tctfs p.S314fs EXOC4_uc011kpo.2_Frame_Shift_Del_p.S213fs|EXOC4_uc003vri.3_Frame_Shift_Del_p.S314fs|EXOC4_uc003vrj.3_Frame_Shift_Del_p.S314fs NM_021807 NP_068579 Q96A65 EXOC4_HUMAN Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA. 314 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) TGAAGAGGTCTACAACCCAGG 0.478 --- 22 --- --- 77 --- IL32 9235 broad.mit.edu 37 16 3119304 3119305 + Frame_Shift_Ins INS - G G rs2981599 TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr16:3119304_3119305insG uc002ctq.3 + 5 748_749 c.653_654insG c.(652-654)gacfs p.D218fs IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript NM_004221 NP_004212 P24001 IL32_HUMAN Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA. 218 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CCACGGGGGGACAAGGAGGAGC 0.574 --- 233 --- --- 8 --- CDC42EP1 11135 broad.mit.edu 37 22 37964409 37964429 + In_Frame_Del DEL CAGCGCCTGCTGCAAACCCCT - - rs13056859 by1000genomes TCGA-D3-A3C3-06A-12D-A19A-08 TCGA-D3-A3C3-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 473ea20c-b4b1-4471-afaa-26f1edd826fa 37a990a9-2dbd-4fdd-9b35-a651ca488e61 g.chr22:37964409_37964429delCAGCGCCTGCTGCAAACCCCT uc003asz.4 + 2 1161_1181 c.758_778delCAGCGCCTGCTGCAAACCCCT c.(757-780)ccagcgcctgctgcaaacccctca>cca p.APAANPS254del NM_152243 NP_689449 Q00587 BORG5_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA. 254 8 X 7 AA tandem repeats of [PT]-[AT]-A- [ENT]-[PT]-[PTS]-[AG]. positive regulation of pseudopodium assembly|regulation of cell shape Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane protein binding p.N258_A264delNPSAPAA(6) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5) 15 Melanoma(58;0.0574) GCAAACCCCCCAGCGCCTGCTGCAAACCCCTCAGCACCTGC 0.665 --- 3 --- --- 5 ---