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 PRUNE2 158471 broad.mit.edu 37 9 79324474 79324474 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:79324474G>A uc010mpk.3 - 7 2840 c.2716C>T c.(2716-2718)Cct>Tct p.P906S PRUNE2_uc022bih.1_Missense_Mutation_p.P728S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 906 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 CTAGTTTTAGGATCCACTAAA 0.428000 121 46 0 0 0.003610 0 0 SLC35E3 55508 broad.mit.edu 37 12 69158494 69158494 + Missense_Mutation SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:69158494T>C uc001suh.3 + 4 988 c.766T>C c.(766-768)Ttc>Ctc p.F256L NM_018656 NP_061126 Q7Z769 S35E3_HUMAN Homo sapiens solute carrier family 35, member E3 (SLC35E3), mRNA. 256 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 Breast(13;2.31e-06)|Renal(347;0.0684) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372) CTATAACATGTTCGGACACTT 0.348000 39 35 0 0 0.007835 0 0 RTP1 132112 broad.mit.edu 37 3 186917640 186917640 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:186917640G>A uc003frg.3 + 1 604 c.574G>A c.(574-576)Gag>Aag p.E192K NM_153708 NP_714919 P59025 RTP1_HUMAN Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA. 192 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AGAGTTCTGCGAGGCCTGCCA 0.701000 30 15 0 0 0.003163 0 0 CLCNKA 1187 broad.mit.edu 37 1 16358708 16358708 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:16358708C>T uc001axu.3 + 16 1847 c.1767C>T c.(1765-1767)atC>atT p.I589I CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.I546I|CLCNKA_uc001axv.3_Silent_p.I589I|CLCNKA_uc010oby.1_Missense_Mutation_p.S309F|CLCNKA_uc021ogl.1_Intron NM_004070 NP_004061 P51800 CLCKA_HUMAN Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA. 589 CBS 1. excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1) 19 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) AGTCCCAGATCCTGGTAGGCA 0.622000 45 12 0 0 0.002450 0 0 EDAR 10913 broad.mit.edu 37 2 109513597 109513597 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:109513597C>T uc010fjn.3 - 11 1756 c.1209G>A c.(1207-1209)gtG>gtA p.V403V EDAR_uc010yws.2_Silent_p.V403V|EDAR_uc002teq.4_Silent_p.V371V NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 371 Death. T -> M (in EDA). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GCCACGTTTTCACAACAGCCT 0.567000 50 26 0 0 0.001786 0 0 NR5A1 2516 broad.mit.edu 37 9 127262838 127262838 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:127262838G>A uc004boo.1 - 3 588 c.401C>T c.(400-402)cCc>cTc p.P134L NR5A1_uc022bnh.1_Missense_Mutation_p.P134L NM_004959 NP_004950 Q13285 STF1_HUMAN Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA. 134 cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding lung(1)|upper_aerodigestive_tract(1) 2 GTCCGGTGCGGGAGGGGGCGG 0.711000 26 15 0 0 0.004990 0 0 HRH1 3269 broad.mit.edu 37 3 11301941 11301941 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:11301941C>T uc010hdr.3 + 1 1560 c.1218C>T c.(1216-1218)caC>caT p.H406H HRH1_uc010hds.3_Silent_p.H406H|HRH1_uc010hdt.3_Silent_p.H406H|HRH1_uc003bwb.4_Silent_p.H406H|HRH1_uc021wtb.1_Silent_p.H406H NM_001098213 NP_001091683 P35367 HRH1_HUMAN Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA. 406 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity p.H406Y(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CTGGGTTGCACATGAACCGCG 0.478000 75 33 0 0 0.002445 0 0 PCSK5 5125 broad.mit.edu 37 9 78804604 78804604 + Silent SNP C T T rs138803714 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:78804604C>T uc004akc.2 + 19 3106 c.2568C>T c.(2566-2568)tgC>tgT p.C856C PCSK5_uc004ajz.3_Silent_p.C856C|PCSK5_uc004aka.3_Non-coding_Transcript|PCSK5_uc004akb.3_Silent_p.C130C NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 856 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTACAAGCTGCCCTAGTGGGT 0.403000 50 14 0 0 0.002450 0 0 ETV6 2120 broad.mit.edu 37 12 12037444 12037444 + Nonsense_Mutation SNP C T T rs141938078 byFrequency TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:12037444C>T uc001qzz.3 + 5 1349 c.1075C>T c.(1075-1077)Cga>Tga p.R359* ETV6_uc001raa.1_Intron NM_001987 NP_001978 P41212 ETV6_HUMAN Homo sapiens ets variant 6 (ETV6), mRNA. 359 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) AAACTTCATCCGATGGGAGGA 0.463000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 71 60 0 0 0.003610 0 0 COLEC12 81035 broad.mit.edu 37 18 346955 346955 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr18:346955G>A uc002kkm.3 - 4 882 c.667C>T c.(667-669)Ctg>Ttg p.L223L NM_130386 NP_569057 Q5KU26 COL12_HUMAN Homo sapiens collectin sub-family member 12 (COLEC12), mRNA. 223 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity p.L223L(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) GACCGCTGCAGATTCGTGATG 0.483000 90 31 0 0 0.002836 0 0 MAP4K2 5871 broad.mit.edu 37 11 64567664 64567664 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:64567664G>A uc001obh.3 - 11 924 c.832C>T c.(832-834)Cct>Tct p.P278S MAP4K2_uc001obi.3_Missense_Mutation_p.P278S NM_004579 NP_004570 Q12851 M4K2_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA. 278 activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting Golgi membrane|basolateral plasma membrane|soluble fraction ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2) 8 AGGGCCCGAGGGAGCTGCTGA 0.647000 23 7 0 0 0.001984 0 0 MYCBP2 23077 broad.mit.edu 37 13 77636771 77636771 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:77636771G>A uc021rks.1 - 73 13001 c.12734C>T c.(12733-12735)tCg>tTg p.S4245L MYCBP2_uc010aev.3_Missense_Mutation_p.S3611L|MYCBP2_uc001vke.3_Missense_Mutation_p.S824L NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 4207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CCATCTCCCCGAGGAGAGACG 0.423000 72 7 0 0 0.003080 0 0 PHKA1 5255 broad.mit.edu 37 X 71870319 71870319 + Splice_Site SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:71870319C>T uc004eax.4 - 13 1547 c.1246_splice c.e13-1 p.G416_splice PHKA1_uc004eay.4_Splice_Site_p.G416_splice|PHKA1_uc011mqi.2_Splice_Site_p.G416_splice NM_002637 NP_002628 P46020 KPB1_HUMAN Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA. 416 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) CTAAAAATCCCTAAAGAAAAA 0.393000 9 8 0 0 0.003080 0 0 KCNQ2 3785 broad.mit.edu 37 20 62071036 62071036 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:62071036C>T uc002yey.1 - 5 1019 c.842G>A c.(841-843)gGg>gAg p.G281E KCNQ2_uc002yez.1_Missense_Mutation_p.G281E|KCNQ2_uc002yfa.1_Missense_Mutation_p.G281E|KCNQ2_uc002yfb.1_Missense_Mutation_p.G281E|KCNQ2_uc011aax.1_Missense_Mutation_p.G281E|KCNQ2_uc002yfc.1_Missense_Mutation_p.G281E NM_172107 NP_742105 O43526 KCNQ2_HUMAN Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA. 281 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity p.G281W(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GTACTTGTCCCCGTAGCCAAT 0.642000 65 23 0 0 0.003954 0 0 OBSCN 84033 broad.mit.edu 37 1 228451886 228451887 + Missense_Mutation DNP CC TT TT TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:228451886_228451887CC>TT uc009xez.1 + 15 4699_4700 c.4655_4656CC>TT c.(4654-4656)gcc>gTT p.A1552V OBSCN_uc001hsn.3_Missense_Mutation_p.A1552V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1552 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGACCAGTGCCACGCTGAGCT 0.644000 68 11 0 0 0.004672 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457192 110457192 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:110457192C>T uc003yne.3 + 37 5198 c.5094C>T c.(5092-5094)ttC>ttT p.F1698F NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 1698 IPT/TIG 9. immune response cytosol|extracellular space|integral to membrane receptor activity p.P1701fs*7(1) NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGGTCATTTCCCATGTAAAG 0.438000 HNSCC(38;0.096) 126 57 0 0 0.003610 0 0 C2orf16 84226 broad.mit.edu 37 2 27801410 27801410 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:27801410G>A uc002rkz.4 + 0 2022 c.1971G>A c.(1969-1971)gtG>gtA p.V657V NM_032266 NP_115642 Q68DN1 CB016_HUMAN Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA. 657 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) GTACTCAAGTGAAGTCTGCAG 0.393000 43 8 0 0 0.000978 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432808 67432808 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:67432808G>A uc001omr.3 - 6 1093 c.654C>T c.(652-654)ggC>ggT p.G218G ALDH3B2_uc001oms.3_Silent_p.G218G|ALDH3B2_uc009ysa.1_Silent_p.G218G NM_000695 NP_001026786 P48448 AL3B2_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA. 218 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CGCGGCTGCAGCCCAGCAATG 0.632000 52 25 0 0 0.001786 0 0 TNR 7143 broad.mit.edu 37 1 175334325 175334325 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:175334325C>T uc001gkp.1 - 9 2489 c.2408G>A c.(2407-2409)aGa>aAa p.R803K TNR_uc009wwu.1_Missense_Mutation_p.R803K NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 803 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.D802V(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AAGAATGAGTCTGTCTGCTGG 0.537000 45 15 0 0 0.002450 0 0 TRANK1 9881 broad.mit.edu 37 3 36872818 36872818 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:36872818C>T uc003cgj.3 - 20 8372 c.8124G>A c.(8122-8124)agG>agA p.R2708R NM_014831 NP_055646 O15050 TRNK1_HUMAN Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA. 2708 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 CCCTGGGCTCCCTGGCCTCCT 0.577000 16 3 0 0 0.004672 0 0 AMBRA1 55626 broad.mit.edu 37 11 46565585 46565585 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:46565585C>T uc001ncv.2 - 5 872 c.558G>A c.(556-558)gtG>gtA p.V186V AMBRA1_uc010rgt.1_5'Flank|AMBRA1_uc009ylc.1_Silent_p.V186V|AMBRA1_uc001ncu.1_Silent_p.V186V|AMBRA1_uc010rgu.1_Silent_p.V186V|AMBRA1_uc001ncw.2_Silent_p.V186V|AMBRA1_uc001ncx.2_Silent_p.V186V NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA. 186 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GATCAAATCTCACCAGACTAA 0.373000 48 22 0 0 0.003330 0 0 SPRR2D 6703 broad.mit.edu 37 1 153012660 153012660 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:153012660G>A uc021ozq.1 - 0 163 c.163C>T c.(163-165)Cct>Tct p.P55S SPRR2D_uc001fbb.2_Missense_Mutation_p.P55S NM_006945 NP_008876 P22532 SPR2D_HUMAN Homo sapiens small proline-rich protein 2D (SPRR2D), mRNA. 55 keratinization cornified envelope|cytoplasm p.P55S(2) endometrium(1)|skin(1) 2 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTCACAGGAGGATATTTCTGC 0.557000 197 130 0 0 0.003610 0 0 C17orf57 124989 broad.mit.edu 37 17 45487019 45487019 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:45487019G>A uc002iln.3 + 20 2671 c.2240G>A c.(2239-2241)aGg>aAg p.R747K C17orf57_uc002ilm.3_Missense_Mutation_p.R651K NM_152347 NP_689560 Q8IY85 CQ057_HUMAN Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA. 747 calcium ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3) 36 GCAGATTTCAGGAAAGAGGCT 0.308000 263 52 0 0 0.003610 0 0 SSFA2 6744 broad.mit.edu 37 2 182787025 182787025 + Silent SNP T A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:182787025T>A uc002uoi.3 + 15 3883 c.3561T>A c.(3559-3561)gtT>gtA p.V1187V SSFA2_uc002uoh.3_Silent_p.V1187V|SSFA2_uc002uoj.3_Silent_p.V1165V|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Silent_p.V1012V|SSFA2_uc002uol.3_Silent_p.V1034V|SSFA2_uc002uom.3_Silent_p.V651V NM_001130445 NP_001123917 P28290 SSFA2_HUMAN Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA. 1187 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CCCCAGAAGTTGTAGGACCTA 0.483000 72 21 0 0 0.002299 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582483 136582483 + Missense_Mutation SNP G T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr6:136582483G>T uc003qgx.1 - 11 2930 c.2677C>A c.(2677-2679)Caa>Aaa p.Q893K BCLAF1_uc011edb.1_Missense_Mutation_p.Q172K|BCLAF1_uc003qgy.1_Missense_Mutation_p.Q842K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q891K|BCLAF1_uc003qgw.1_Missense_Mutation_p.Q720K NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 893 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CCATCCCCTTGGTATTTGTCA 0.413000 151 21 3.62473e-10 1.04989e-09 0.001882 1 0 MPP6 51678 broad.mit.edu 37 7 24663358 24663358 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:24663358C>T uc003swx.3 + 2 371 c.72C>T c.(70-72)ttC>ttT p.F24F MPP6_uc003swy.3_Silent_p.F24F NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA. 24 L27 1. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 ACCTAATTTTCCTCAAGGGAA 0.348000 70 7 0 0 0.001984 0 0 HAPLN1 1404 broad.mit.edu 37 5 82948460 82948460 + Missense_Mutation SNP A G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:82948460A>G uc003kim.3 - 1 355 c.284T>C c.(283-285)tTt>tCt p.F95S HAPLN1_uc003kin.3_Missense_Mutation_p.F95S NM_001884 NP_001875 P10915 HPLN1_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA. 95 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1) 34 Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29) CATGGAAACAAAAACATCCAC 0.433000 76 29 0 0 0.007291 0 0 DSG4 147409 broad.mit.edu 37 18 28979241 28979241 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr18:28979241G>A uc002kwr.2 + 8 1147 c.1012G>A c.(1012-1014)Gat>Aat p.D338N DSG4_uc002kwq.2_Missense_Mutation_p.D338N NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 338 Cadherin 3. homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TCAGATGCTGGATTATGAACA 0.378000 85 18 0 0 0.006122 0 0 LILRA4 23547 broad.mit.edu 37 19 54849758 54849758 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:54849758C>T uc002qfj.3 - 2 321 c.264G>A c.(262-264)atG>atA p.M88I LILRA4_uc002qfi.3_Missense_Mutation_p.M22I NM_012276 NP_036408 P59901 LIRA4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA. 88 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) GTTCCCACATCATGGATGGGA 0.527000 77 25 0 0 0.005443 0 0 PDILT 204474 broad.mit.edu 37 16 20387405 20387405 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:20387405G>A uc002dhc.1 - 3 751 c.528C>T c.(526-528)atC>atT p.I176I NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 176 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 AGAAGCCAACGATGACCAAGG 0.522000 24 21 0 0 0.002299 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751121 19751121 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:19751121G>A uc009zzj.3 - 3 1107 c.1002C>T c.(1000-1002)acC>acT p.T334T NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 334 '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) TGGTCTTGATGGTGGCGATGG 0.527000 37 18 0 0 0.004990 0 0 FBN3 84467 broad.mit.edu 37 19 8175759 8175759 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:8175759C>T uc002mjf.3 - 32 4320 c.4303G>A c.(4303-4305)Gaa>Aaa p.E1435K NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1435 EGF-like 22; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.Y1434D(1) NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGGTCCAGTTCGTAGCCACCA 0.607000 75 33 0 0 0.004289 0 0 AGFG2 3268 broad.mit.edu 37 7 100153332 100153332 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:100153332C>T uc003uvf.3 + 5 987 c.851C>T c.(850-852)tCg>tTg p.S284L AGFG2_uc003uvg.1_3'UTR NM_006076 NP_006067 O95081 AGFG2_HUMAN Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA. 284 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGTCAAGCCTCGTTCCAGGCC 0.532000 93 95 0 0 0.003610 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122459884 122459884 + Missense_Mutation SNP G T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:122459884G>T uc003efu.2 - 6 1041 c.902C>A c.(901-903)cCa>cAa p.P301Q HSPBAP1_uc003eft.2_Missense_Mutation_p.P12Q NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA. 301 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) GGTATTTTGTGGATTCTCTGC 0.478000 72 24 5.61819e-17 1.63499e-16 0.005443 1 0 HP 3240 broad.mit.edu 37 16 72094402 72094402 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:72094402G>A uc002fbr.4 + 6 878 c.834G>A c.(832-834)gtG>gtA p.V278V TXNL4B_uc010cgl.2_Intron|HP_uc010cgm.3_Silent_p.V219V|HP_uc021tld.1_Silent_p.V219V|HP_uc002fbt.4_Silent_p.V219V|HPR_uc002fby.3_5'Flank NM_005143 NP_005134 P00738 HPT_HUMAN Homo sapiens haptoglobin (HP), transcript variant 1, mRNA. 278 Peptidase S1. cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) TAGGGCGTGTGGGTTATGTTT 0.453000 14 29 0 0 0.001786 0 0 PDHA2 5161 broad.mit.edu 37 4 96762199 96762199 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:96762199C>T uc003htr.4 + 0 961 c.898C>T c.(898-900)Cgt>Tgt p.R300C NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 300 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity p.R300C(2)|p.R300L(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) AGTCAGTTATCGTACACGAGA 0.433000 39 10 0 0 0.000978 0 0 ZNF711 7552 broad.mit.edu 37 X 84520196 84520196 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:84520196G>A uc004eeq.3 + 5 1737 c.851G>A c.(850-852)cGa>cAa p.R284Q ZNF711_uc004eep.3_Missense_Mutation_p.R284Q|ZNF711_uc004eeo.3_Missense_Mutation_p.R284Q|ZNF711_uc011mqy.1_5'UTR NM_021998 NP_068838 Q9Y462 ZN711_HUMAN Homo sapiens zinc finger protein 711 (ZNF711), mRNA. 284 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 GACCAGAGCCGAATGCAGCGG 0.398000 8 21 0 0 0.001882 0 0 TARS2 80222 broad.mit.edu 37 1 150471004 150471004 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:150471004C>T uc001euq.3 + 10 1272 c.1265C>T c.(1264-1266)tCc>tTc p.S422F TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.S340F|TARS2_uc009wlt.3_Missense_Mutation_p.S48F|TARS2_uc009wls.3_Missense_Mutation_p.S292F NM_025150 NP_079426 Q9BW92 SYTM_HUMAN Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA. 422 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 35 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CGGCCCAGATCCTGGCGGGAA 0.657000 70 15 0 0 0.004990 0 0 PRPF8 10594 broad.mit.edu 37 17 1587789 1587789 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:1587789G>A uc002fte.3 - 1 191 c.77C>T c.(76-78)tCg>tTg p.S26L NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA. 26 U5 snRNP|catalytic step 2 spliceosome|nuclear speck RNA binding|protein binding p.S26L(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 77 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) CTTCTCCTCCGACATGTAGTC 0.701000 48 22 0 0 0.006320 0 0 ITIH4 3700 broad.mit.edu 37 3 52853460 52853460 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:52853460G>A uc011bem.2 - 16 2069 c.2041C>T c.(2041-2043)Cct>Tct p.P681S ITIH4_uc011bel.2_Missense_Mutation_p.P376S|ITIH4_uc003dfy.3_Missense_Mutation_p.P510S|ITIH4_uc003dfz.3_Missense_Mutation_p.P676S|ITIH4_uc011ben.2_Missense_Mutation_p.P646S NM_002218 NP_002209 Q14624 ITIH4_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA. 676 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) GGAACATCAGGAGGTCCTGGG 0.602000 51 18 0 0 0.007413 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075177 106075177 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:106075177G>A uc001kyf.3 - 2 1086 c.633C>T c.(631-633)ttC>ttT p.F211F ITPRIP_uc001kye.3_Silent_p.F211F|ITPRIP_uc001kyg.3_Silent_p.F211F|ITPRIP_uc021pxv.1_Silent_p.F211F NM_033397 NP_203755 Q8IWB1 IPRI_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA. 211 plasma membrane p.F211F(2) breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 TGAAGGGCACGAAAAGGTGGC 0.637000 30 14 0 0 0.003163 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73021239 73021239 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:73021239C>T uc001otu.3 + 0 1577 c.1556C>T c.(1555-1557)cCc>cTc p.P519L NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 519 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CAACTTGAACCCATACCCATC 0.612000 30 18 0 0 0.004990 0 0 SLC16A3 9123 broad.mit.edu 37 17 80194103 80194103 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:80194103G>A uc002kea.3 + 1 369 c.219G>A c.(217-219)ggG>ggA p.G73G SLC16A3_uc021ufm.1_Silent_p.G73G|SLC16A3_uc002keb.3_Silent_p.G73G|SLC16A3_uc002kec.3_Silent_p.G73G|SLC16A3_uc002ked.3_Silent_p.G73G|SLC16A3_uc021ufn.1_Silent_p.G73G|SLC16A3_uc021ufo.1_Silent_p.G73G NM_001042422 NP_004198 O15427 MOT4_HUMAN Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA. 73 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TGCTCTACGGGACAGGTGAGG 0.642000 50 7 0 0 0.001984 0 0 PSD2 84249 broad.mit.edu 37 5 139189174 139189174 + Missense_Mutation SNP G A A rs147071263 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:139189174G>A uc003leu.1 + 1 354 c.149G>A c.(148-150)cGa>cAa p.R50Q NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA. 50 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCACGAGCGAAGGGGCACC 0.657000 33 5 0 0 0.000602 0 0 ABCA13 154664 broad.mit.edu 37 7 48278969 48278969 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:48278969C>T uc003toq.2 + 8 1053 c.1029C>T c.(1027-1029)gtC>gtT p.V343V ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 343 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 ACTATCTTGTCCATGCAGTCA 0.502000 53 10 0 0 0.006214 0 0 SLC6A19 340024 broad.mit.edu 37 5 1217042 1217042 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:1217042C>T uc003jbw.4 + 7 1211 c.1155C>T c.(1153-1155)atC>atT p.I385I NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA. 385 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCTGCGACATCAACGCCTTCC 0.657000 99 36 0 0 0.004289 0 0 SP100 6672 broad.mit.edu 37 2 231307783 231307783 + Missense_Mutation SNP A T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:231307783A>T uc002vqt.3 + 2 380 c.239A>T c.(238-240)gAt>gTt p.D80V SP100_uc002vqs.3_Missense_Mutation_p.D80V|SP100_uc002vqu.1_Missense_Mutation_p.D80V|SP100_uc010zmb.2_Missense_Mutation_p.D80V|SP100_uc002vqq.2_Missense_Mutation_p.D80V|SP100_uc010zmc.2_Missense_Mutation_p.D55V|SP100_uc002vqv.2_Missense_Mutation_p.D45V NM_003113 NP_003104 P23497 SP100_HUMAN Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA. 80 HSR. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon PML body|cytoplasm|nuclear periphery|nucleolus DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|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) GGCCTCCGTGATCGTGATCTC 0.358000 110 6 0 0 0.003080 0 0 STAP1 26228 broad.mit.edu 37 4 68459033 68459033 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:68459033G>A uc003hde.4 + 7 867 c.785G>A c.(784-786)gGa>gAa p.G262E STAP1_uc003hdf.3_Missense_Mutation_p.G262E NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA. 262 SH2. cellular membrane fusion|intracellular protein transport cytoplasm NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1) 12 GAGACTCGAGGAAATTTAAGA 0.343000 78 14 0 0 0.004990 0 0 OR8H3 390152 broad.mit.edu 37 11 55890126 55890126 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:55890126C>T uc001nii.1 + 0 278 c.278C>T c.(277-279)tCc>tTc p.S93F NM_001005201 NP_001005201 Q8N146 OR8H3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA. 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) AACTATATTTCCTTCACGGGC 0.423000 232 69 0 0 0.003610 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153275001 153275001 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:153275001G>A uc001fbn.1 - 4 665 c.612C>T c.(610-612)gtC>gtT p.V204V NM_052891 NP_443123 Q96LB9 PGRP3_HUMAN Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA. 204 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGATGATGATGACATATTTGG 0.478000 86 48 0 0 0.003610 0 0 NRXN1 9378 broad.mit.edu 37 2 51254859 51254859 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:51254859G>A uc021vhh.1 - 0 1474 c.553C>T c.(553-555)Cgt>Tgt p.R185C NRXN1_uc021vhg.1_Missense_Mutation_p.R185C|NRXN1_uc021vhi.1_Missense_Mutation_p.R185C|NRXN1_uc021vhj.1_Missense_Mutation_p.R185C|NRXN1_uc021vhk.1_Missense_Mutation_p.R185C NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 185 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CTCACGTCACGAATCCACCCC 0.706000 9 5 0 0 0.000602 0 0 ACTL8 81569 broad.mit.edu 37 1 18152383 18152383 + Missense_Mutation SNP T G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:18152383T>G uc001bat.3 + 2 686 c.470T>G c.(469-471)gTg>gGg p.V157G NM_030812 NP_110439 Q9H568 ACTL8_HUMAN Homo sapiens actin-like 8 (ACTL8), mRNA. 157 cytoplasm|cytoskeleton p.V157M(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 28 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) CTGACCCGCGTGCAGCCTTTC 0.637000 OREG0013157 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 5 0 0 0.000602 0 0 CPAMD8 27151 broad.mit.edu 37 19 17091331 17091331 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:17091331G>A uc002nfb.3 - 13 1734 c.1702C>T c.(1702-1704)Cgt>Tgt p.R568C NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 521 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 TGTGTTAAACGAATCGGTTTC 0.592000 42 11 0 0 0.001855 0 0 OR2M2 391194 broad.mit.edu 37 1 248343781 248343781 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:248343781C>T uc010pzf.2 + 0 494 c.494C>T c.(493-495)tCc>tTc p.S165F NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GCCACATTTTCCTTCTCCTTT 0.423000 213 51 0 0 0.003610 0 0 abParts 0 broad.mit.edu 37 22 22664115 22664115 + RNA SNP A T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr22:22664115A>T uc021wml.1 + 31 c.2557A>T abParts_uc011aiq.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. TGTTTAATTCAGCCTTGGAAG 0.413000 37 4 0 0 0.004482 0 0 GLB1 2720 broad.mit.edu 37 3 33038624 33038624 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:33038624G>A uc011axk.1 - 16 2208 c.2091C>T c.(2089-2091)acC>acT p.T697T GLB1_uc003cfh.1_Silent_p.T619T|GLB1_uc003cfi.1_Silent_p.T649T|GLB1_uc003cfj.1_Silent_p.T518T NM_001079811 NP_001073279 P16278 BGAL_HUMAN Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA. 649 carbohydrate metabolic process lysosome|perinuclear region of cytoplasm beta-galactosidase activity|cation binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 21 Melanoma(143;0.104) GATGATCGTAGGTCACAGATG 0.507000 73 25 0 0 0.003330 0 0 SELV 348303 broad.mit.edu 37 19 40009605 40009605 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:40009605C>T uc021uum.1 + 3 1051 c.951C>T c.(949-951)gtC>gtT p.V317V NM_182704 P59797 SELV_HUMAN Homo sapiens selenoprotein V (SELV), mRNA. 317 cell redox homeostasis selenium binding breast(1)|endometrium(1)|lung(3)|prostate(1) 6 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) GGAGACTGGTCCATTCCAAGA 0.587000 99 41 0 0 0.002522 0 0 PCDH8 5100 broad.mit.edu 37 13 53420448 53420448 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:53420448G>A uc001vhi.3 - 0 2328 c.2124C>T c.(2122-2124)ttC>ttT p.F708F PCDH8_uc001vhj.3_Silent_p.F708F NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 708 Cadherin 6. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) CTGTTACCACGAAGCTGACAG 0.726000 16 9 0 0 0.004482 0 0 TBP 6908 broad.mit.edu 37 6 170871188 170871188 + Missense_Mutation SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr6:170871188T>C uc003qxu.3 + 2 643 c.364T>C c.(364-366)Ttc>Ctc p.F122L TBP_uc011ehf.2_Missense_Mutation_p.F102L|TBP_uc003qxt.3_Missense_Mutation_p.F122L|TBP_uc011ehg.1_Missense_Mutation_p.F122L NM_003194 NP_001165556 P20226 TBP_HUMAN Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA. 122 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) ACCACAGCTCTTCCACTCACA 0.627000 30 17 0 0 0.008871 0 0 UBR4 23352 broad.mit.edu 37 1 19451079 19451079 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:19451079G>A uc001bbi.3 - 64 9548 c.9544C>T c.(9544-9546)Cca>Tca p.P3182S UBR4_uc001bbk.1_Missense_Mutation_p.P829S NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA. 3182 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) ACAGGAGGTGGGATTCGAGAA 0.458000 25 12 0 0 0.001368 0 0 MUC16 94025 broad.mit.edu 37 19 9062966 9062966 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:9062966G>A uc002mkp.3 - 2 24684 c.24480C>T c.(24478-24480)tcC>tcT p.S8160S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8162 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 TTCTGCTAGAGGAGGTGACTT 0.542000 60 16 0 0 0.003163 0 0 VEGFC 7424 broad.mit.edu 37 4 177649045 177649045 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:177649045C>T uc003ius.1 - 2 869 c.439G>A c.(439-441)Gcg>Acg p.A147T NM_005429 NP_005420 P49767 VEGFC_HUMAN Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA. 147 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity p.A147V(1)|p.A147A(1) biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GTGTTTGTCGCGACTCCAAAC 0.493000 48 15 0 0 0.002450 0 0 COL6A6 131873 broad.mit.edu 37 3 130380960 130380960 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:130380960G>A uc010htl.3 + 33 6341 c.6310G>A c.(6310-6312)Gaa>Aaa p.E2104K COL6A6_uc003eni.4_Missense_Mutation_p.E203K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 2104 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTTAAAGAAGGAATCCTTGCG 0.433000 50 10 0 0 0.008291 0 0 HAVCR1 26762 broad.mit.edu 37 5 156482325 156482325 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:156482325G>A uc010jij.1 - 2 451 c.266C>T c.(265-267)tCt>tTt p.S89F HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.S89F|HAVCR1_uc021ygj.1_Missense_Mutation_p.S89F|HAVCR1_uc021ygk.1_5'Flank|HAVCR1_uc011ddm.2_Missense_Mutation_p.S89F NM_001099414 NP_036338 Q96D42 HAVR1_HUMAN Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA. 89 Ig-like V-type. interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TATGGTCAAAGAGACATCCCT 0.468000 444 164 0 0 0.003610 0 0 SBK2 646643 broad.mit.edu 37 19 56042631 56042631 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:56042631G>A uc010ygc.2 - 2 350 c.335C>T c.(334-336)tCg>tTg p.S112L NM_001101401 NP_001094871 P0C263 SBK2_HUMAN Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA. 112 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CGCGCCCAGCGAGAGCCCCAC 0.667000 17 4 0 0 0.000248 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599059 136599059 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr6:136599059C>T uc003qgx.1 - 3 1213 c.960G>A c.(958-960)tcG>tcA p.S320S BCLAF1_uc003qgy.1_Silent_p.S318S|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.S318S|BCLAF1_uc003qgw.1_Silent_p.S320S NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA. 320 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CAGGATAAAACGAGGAACGGC 0.398000 68 11 0 0 0.004007 0 0 IL9R 3581 broad.mit.edu 37 X 155233493 155233493 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:155233493G>A uc004fnv.1 + 3 585 c.406G>A c.(406-408)Gac>Aac p.D136N IL9R_uc010nvn.2_Missense_Mutation_p.D115N|IL9R_uc004fnu.1_Nonsense_Mutation_p.W180* NM_002186 NP_002177 Q01113 IL9R_HUMAN Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA. 136 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CAGCCTGGTGGACCCGGAGTA 0.622000 26 15 0 0 0.006122 0 0 MYO18A 399687 broad.mit.edu 37 17 27421799 27421799 + Missense_Mutation SNP A C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:27421799A>C uc002hdt.1 - 29 4737 c.4579T>G c.(4579-4581)Tct>Gct p.S1527A MYO18A_uc010wbc.1_Missense_Mutation_p.S1069A|MYO18A_uc002hds.2_Missense_Mutation_p.S1069A|MYO18A_uc010csa.1_Missense_Mutation_p.S1527A|MYO18A_uc002hdu.1_Missense_Mutation_p.S1527A NM_078471 NP_510880 Q92614 MY18A_HUMAN Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA. 1527 DNA metabolic process|anti-apoptosis ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TCTTGGGAAGAAATGTCCTGG 0.527000 89 27 0 0 0.006320 0 0 EDN1 1906 broad.mit.edu 37 6 12296235 12296235 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr6:12296235G>A uc003nae.4 + 4 908 c.574G>A c.(574-576)Gat>Aat p.D192N EDN1_uc003nad.3_3'UTR|EDN1_uc003naf.4_Missense_Mutation_p.D191N NM_001955 NP_001946 P05305 EDN1_HUMAN Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA. 192 artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction cytoplasm|extracellular space cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 13 all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12) all_hematologic(90;0.117) ATCTTTTCATGATCCCAAGCT 0.448000 123 45 0 0 0.003610 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9160442 9160442 + RNA SNP A C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrY:9160442A>C uc004frl.1 - 0 c.42T>G Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. TTGAGGCCACAAATGAAAAGC 0.348000 20 3 0 0 0.000248 0 0 WDR90 197335 broad.mit.edu 37 16 716594 716594 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:716594C>T uc002cii.1 + 37 4934 c.4880C>T c.(4879-4881)aCg>aTg p.T1627M WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.T242M|WDR90_uc002cio.1_Missense_Mutation_p.T226M|WDR90_uc010bqx.1_Intron|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 1627 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) CCTGCCACCACGGAGGTAAAC 0.652000 14 18 0 0 0.001523 0 0 ANKRD36 375248 broad.mit.edu 37 2 97784202 97784202 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:97784202C>T uc010yva.2 + 2 678 c.434C>T c.(433-435)tCc>tTc p.S145F ANKRD36_uc002sxn.2_Missense_Mutation_p.S145F|ANKRD36_uc021vlk.1_Missense_Mutation_p.S145F|ANKRD36_uc010yuz.1_Non-coding_Transcript|ANKRD36_uc010fic.2_5'UTR|ANKRD36_uc002sxo.2_Missense_Mutation_p.S145F|ANKRD36_uc002sxp.3_Non-coding_Transcript NM_001164315 NP_001157787 A6QL64 AN36A_HUMAN Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA. 145 endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 GAAGATACATCCATGATAGAA 0.368000 36 20 0 0 0.004656 0 0 PDE3A 5139 broad.mit.edu 37 12 20799828 20799828 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:20799828G>A uc001reh.2 + 11 2549 c.2509G>A c.(2509-2511)Gat>Aat p.D837N PDE3A_uc021qwa.1_Missense_Mutation_p.D515N NM_000921 NP_000912 Q14432 PDE3A_HUMAN Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA. 837 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) AGCCATGCACGATTATGATCA 0.418000 125 28 0 0 0.007291 0 0 FGD5 152273 broad.mit.edu 37 3 14905767 14905767 + Splice_Site SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:14905767G>A uc003bzc.3 + 2 2768 c.2658_splice c.e2+1 p.K886_splice FGD5_uc011avk.2_Splice_Site_p.K886_splice NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA. 886 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape Golgi apparatus|cytoskeleton|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 TCACCCACAAGGTAGGGCACC 0.597000 53 19 0 0 0.008871 0 0 CEACAM8 1088 broad.mit.edu 37 19 43097693 43097693 + Splice_Site SNP G A A rs146875157 byFrequency TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:43097693G>A uc002oud.2 - 2 526 c.424_splice c.e2+1 p.P142_splice AK311181_uc010eif.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron NM_001816 NP_001807 P31997 CEAM8_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 8 (CEACAM8), mRNA. 142 Ig-like V-type. immune response anchored to membrane|extracellular space|integral to plasma membrane p.P142T(1)|p.P142S(1) endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 16 Prostate(69;0.00899) AATCACTCACGATGTACGCTG 0.498000 59 18 0 0 0.008871 0 0 NLRP13 126204 broad.mit.edu 37 19 56423098 56423098 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:56423098G>A uc010ygg.2 - 4 2110 c.2085C>T c.(2083-2085)atC>atT p.I695I NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 695 ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CCCTTTCAAGGATGTGACTGC 0.383000 80 23 0 0 0.006320 0 0 CACNA1E 777 broad.mit.edu 37 1 181727218 181727218 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:181727218G>A uc009wxt.3 + 30 4660 c.4465G>A c.(4465-4467)Gcc>Acc p.A1489T CACNA1E_uc001gow.3_Missense_Mutation_p.A1489T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A1470T|CACNA1E_uc001gox.1_Missense_Mutation_p.A715T NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1489 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GGCCATGATCGCCTTGAATAC 0.552000 63 6 0 0 0.001168 0 0 NOLC1 9221 broad.mit.edu 37 10 103921610 103921611 + Missense_Mutation DNP CC TT TT TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:103921610_103921611CC>TT uc001kup.2 + 11 2134_2135 c.1899_1900CC>TT c.(1897-1902)tcccca>tcTTca p.P634S NOLC1_uc001kuo.2_Missense_Mutation_p.P624S|NOLC1_uc001kuq.2_Missense_Mutation_p.P625S|NOLC1_uc009xxb.1_Missense_Mutation_p.P343S|NOLC1_uc001kur.2_Missense_Mutation_p.P343S NM_004741 NP_004732 Q14978 NOLC1_HUMAN Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA. 624 mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 31 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) GGGCATCATCCCCATTCCGAAG 0.470000 35 12 0 0 0.004672 0 0 FAM209B 388799 broad.mit.edu 37 20 55108414 55108414 + Missense_Mutation SNP C T T rs140276541 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:55108414C>T uc002xxz.3 + 0 113 c.17C>T c.(16-18)tCg>tTg p.S6L FAM209B_uc010zzh.2_Intron NM_001013646 NP_001013668 Q5JX69 CT107_HUMAN Homo sapiens family with sequence similarity 209, member B (FAM209B), mRNA. 6 integral to membrane ACGCTGAAATCGTCCCTGGTC 0.572000 110 55 0 0 0.003610 0 0 EP300 2033 broad.mit.edu 37 22 41537070 41537070 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr22:41537070C>T uc003azl.4 + 9 2292 c.1897C>T c.(1897-1899)Cta>Tta p.L633L NM_001429 NP_001420 Q09472 EP300_HUMAN Homo sapiens E1A binding protein p300 (EP300), mRNA. 633 KIX. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CTACCACCTTCTAGCTGAGAA 0.388000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 28 27 0 0 0.004656 0 0 CYP3A4 1576 broad.mit.edu 37 7 99365994 99365994 + Missense_Mutation SNP G A A rs55901263 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:99365994G>A uc003urv.2 - 6 760 c.653C>T c.(652-654)cCa>cTa p.P218L CYP3A4_uc003urw.2_Missense_Mutation_p.P218L|CYP3A4_uc011kiz.2_Missense_Mutation_p.P177L NM_017460 NP_059488 P08684 CP3A4_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA. 218 P -> R (in allele CYP3A4*5; dbSNP:rs55901263). alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) GAGAAAGAATGGATCCAAAAA 0.333000 60 12 0 0 0.001855 0 0 GH1 2688 broad.mit.edu 37 17 61995424 61995424 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:61995424C>T uc002jdj.3 - 2 306 c.244G>A c.(244-246)Gag>Aag p.E82K GH1_uc002jdi.3_Missense_Mutation_p.E67K|GH1_uc002jdk.3_Intron|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Missense_Mutation_p.E82K NM_000515 NP_000506 P01241 SOMA_HUMAN Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA. 82 JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10) 19 GGAATAGACTCTGAGAAACAG 0.542000 159 56 0 0 0.003610 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8660783 8660783 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:8660783C>T uc002mkj.1 - 11 1616 c.1342G>A c.(1342-1344)Ggc>Agc p.G448S ADAMTS10_uc002mkk.1_Missense_Mutation_p.G80S NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 448 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AGCCCCAGGCCCGAGCTGCCT 0.602000 100 33 0 0 0.002445 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536233 31536233 + Silent SNP G A A rs2232175 byFrequency TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr22:31536233G>A uc003aka.3 - 0 237 c.108C>T c.(106-108)gcC>gcT p.A36A NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN Homo sapiens phospholipase A2, group III (PLA2G3), mRNA. 36 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 TGCCAGGGACGGCCTTGGTCA 0.662000 35 26 0 0 0.003954 0 0 COL4A5 1287 broad.mit.edu 37 X 107815064 107815064 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:107815064G>A uc022ccg.1 + 7 664 c.462G>A c.(460-462)atG>atA p.M154I COL4A5_uc004enz.1_Missense_Mutation_p.M154I NM_033380 NP_203699 P29400 CO4A5_HUMAN Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA. 154 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.M154I(2) 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 TCCCAGGTATGAAGGTAAGCA 0.348000 Alport syndrome with Diffuse Leiomyomatosis 13 22 0 0 0.002780 0 0 PIAS1 8554 broad.mit.edu 37 15 68434638 68434639 + Missense_Mutation DNP GG AT AT TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:68434638_68434639GG>AT uc002aqz.3 + 3 658_659 c.565_566GG>AT c.(565-567)ggg>ATg p.G189M PIAS1_uc010ujx.2_Missense_Mutation_p.G189M NM_016166 NP_057250 O75925 PIAS1_HUMAN Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA. 189 PINIT. JAK-STAT cascade|androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent nuclear speck DNA binding|SUMO ligase activity|androgen receptor binding|enzyme binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1) 24 GGATATTTCTGGGACCAAATGT 0.342000 21 8 0 0 0.004672 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125521271 125521271 + Missense_Mutation SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:125521271T>C uc010flu.3 + 14 2621 c.2257T>C c.(2257-2259)Tcc>Ccc p.S753P CNTNAP5_uc002tno.3_Missense_Mutation_p.S752P NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 752 Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGCTTTCTTTCCTTCAAAGA 0.413000 23 4 0 0 0.001168 0 0 CPN2 1370 broad.mit.edu 37 3 194063009 194063009 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:194063009G>A uc003fts.3 - 1 513 c.423C>T c.(421-423)ttC>ttT p.F141F CPN2_uc021xix.1_Silent_p.F141F NM_001080513 NP_001073982 P22792 CPN2_HUMAN Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA. 141 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) CCAGGTGCTGGAAAAGACCCT 0.602000 31 12 0 0 0.000978 0 0 MC3R 4159 broad.mit.edu 37 20 54824811 54824811 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:54824811G>A uc002xxb.2 + 0 1024 c.912G>A c.(910-912)ctG>ctA p.L304L NM_019888 NP_063941 P41968 MC3R_HUMAN Homo sapiens melanocortin 3 receptor (MC3R), mRNA. 341 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) TCCGGAGCCTGGAATTGCGCA 0.527000 117 93 0 0 0.003610 0 0 PKD1L1 168507 broad.mit.edu 37 7 47886648 47886648 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:47886648G>A uc003tny.2 - 31 5016 c.4982C>T c.(4981-4983)tCc>tTc p.S1661F NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 1661 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 ATCCAATAAGGATAAATAGCC 0.388000 39 5 0 0 0.000602 0 0 TGM4 7047 broad.mit.edu 37 3 44926977 44926977 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:44926977G>A uc003coc.4 + 1 253 c.180G>A c.(178-180)ctG>ctA p.L60L TGM4_uc003coa.2_Silent_p.L60L|TGM4_uc003cob.2_Non-coding_Transcript NM_003241 NP_003232 P49221 TGM4_HUMAN Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA. 60 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) AACTGAAACTGGAATTCAGCA 0.577000 24 7 0 0 0.003080 0 0 CACNA1D 776 broad.mit.edu 37 3 53779704 53779704 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:53779704C>T uc003dgv.4 + 23 3223 c.3060C>T c.(3058-3060)atC>atT p.I1020I CACNA1D_uc003dgu.4_Silent_p.I1040I|CACNA1D_uc003dgy.4_Silent_p.I1020I|CACNA1D_uc003dgw.4_Silent_p.I687I|CACNA1D_uc003dgx.1_Silent_p.I168I NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA. 1020 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) ACATCATGATCGTCACCACCC 0.532000 60 20 0 0 0.004656 0 0 SCG3 29106 broad.mit.edu 37 15 51993377 51993377 + Silent SNP A G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:51993377A>G uc002abh.3 + 9 1546 c.1143A>G c.(1141-1143)ggA>ggG p.G381G SCG3_uc010ufz.2_Silent_p.G149G NM_013243 NP_001158729 Q8WXD2 SCG3_HUMAN Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. 381 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AGGAATATGGAAGCTTGAAGG 0.413000 64 24 0 0 0.002780 0 0 MYH7 4625 broad.mit.edu 37 14 23894119 23894119 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr14:23894119C>T uc001wjx.3 - 21 2644 c.2538G>A c.(2536-2538)gaG>gaA p.E846E NM_000257 NP_000248 P12883 MYH7_HUMAN Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA. 846 E -> Q (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CCATCTCCTTCTCTCTTTCTG 0.547000 46 22 0 0 0.003954 0 0 SPATA20 64847 broad.mit.edu 37 17 48632649 48632649 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:48632649C>T uc002ird.3 + 15 2355 c.2214C>T c.(2212-2214)gtC>gtT p.V738V SPATA20_uc002irc.3_Silent_p.V389V|SPATA20_uc002ire.3_Silent_p.V678V|SPATA20_uc002irf.3_Silent_p.V722V|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 722 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) TGCAGTGCGTCCACTCTGTCT 0.587000 19 23 0 0 0.001786 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102526637 102526637 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:102526637C>T uc003kod.4 + 28 3966 c.3447C>T c.(3445-3447)tcC>tcT p.S1149S PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Silent_p.S1128S|PPIP5K2_uc003kof.3_Silent_p.S331S NM_015216 NP_056031 O43314 VIP2_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA. 1149 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TTCTTGCTTCCATTGCTTCTC 0.373000 69 20 0 0 0.001882 0 0 KIAA0922 23240 broad.mit.edu 37 4 154523767 154523767 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:154523767C>T uc010ipp.3 + 22 2579 c.2527C>T c.(2527-2529)Cgc>Tgc p.R843C KIAA0922_uc003inm.4_Missense_Mutation_p.R842C|KIAA0922_uc010ipq.3_Missense_Mutation_p.R611C NM_001131007 NP_001124479 A2VDJ0 T131L_HUMAN Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA. 842 integral to membrane p.T842T(1) breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) CCTAGAATTTCGCTTCACTCT 0.498000 61 22 0 0 0.001882 0 0 USH2A 7399 broad.mit.edu 37 1 216246511 216246511 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:216246511C>T uc001hku.1 - 27 6091 c.5704G>A c.(5704-5706)Gga>Aga p.G1902R NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 1902 Fibronectin type-III 5. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GAGTCATTTCCCCTGCAGTTA 0.488000 HNSCC(13;0.011) 16 18 0 0 0.006122 0 0 TTN 7273 broad.mit.edu 37 2 179583311 179583311 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:179583311C>T uc021vsy.1 - 81 21015 c.20790G>A c.(20788-20790)gtG>gtA p.V6930V TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V3591V NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7857 Ig-like 51. 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) CCAATCTTTTCACAAAGGTGG 0.418000 39 16 0 0 0.004990 0 0 LTBP1 4052 broad.mit.edu 37 2 33585818 33585818 + Silent SNP A G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:33585818A>G uc021vft.1 + 26 4178 c.4155A>G c.(4153-4155)gaA>gaG p.E1385E LTBP1_uc002rou.3_Silent_p.E1059E|LTBP1_uc002rov.3_Silent_p.E1006E|LTBP1_uc010ymz.2_Silent_p.E1017E|LTBP1_uc010yna.2_Silent_p.E964E|LTBP1_uc010ynb.2_Silent_p.E283E NM_206943 NP_996826 Q14766 LTBP1_HUMAN Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA. 1385 TB 3. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ATAACTGCGAAATCTTCCCCT 0.498000 49 19 0 0 0.008871 0 0 ITPR1 3708 broad.mit.edu 37 3 4859857 4859857 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:4859857C>T uc003bqc.3 + 58 8264 c.7914C>T c.(7912-7914)atC>atT p.I2638I ITPR1_uc021wsi.1_Silent_p.I2605I|ITPR1_uc021wsj.1_Silent_p.I2590I|ITPR1_uc011asu.2_Silent_p.I616I|ITPR1_uc010hcc.2_Silent_p.I373I|ITPR1_uc011asv.2_Silent_p.I329I NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 2653 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) TGTGCTTCATCGTCCTGGTGA 0.468000 27 10 0 0 0.008291 0 0 ADAM29 11086 broad.mit.edu 37 4 175898197 175898197 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:175898197G>A uc003iuc.3 + 4 2191 c.1521G>A c.(1519-1521)agG>agA p.R507R ADAM29_uc003iud.3_Silent_p.R507R|ADAM29_uc010irr.3_Silent_p.R507R|ADAM29_uc011cki.2_Silent_p.R507R|ADAM29_uc021xuo.1_Silent_p.R507R NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA. 507 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) AGTGTAGGAGGATTTTTGGTG 0.448000 67 26 0 0 0.004656 0 0 LPHN2 23266 broad.mit.edu 37 1 82372750 82372750 + Missense_Mutation SNP C A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:82372750C>A uc001dit.4 + 3 303 c.122C>A c.(121-123)tCc>tAc p.S41Y LPHN2_uc001dis.3_Missense_Mutation_p.S41Y|LPHN2_uc001diu.3_Missense_Mutation_p.S41Y|LPHN2_uc001div.3_Missense_Mutation_p.S41Y|LPHN2_uc009wcd.3_Missense_Mutation_p.S41Y NM_012302 NP_036434 O95490 LPHN2_HUMAN Homo sapiens latrophilin 2 (LPHN2), mRNA. 41 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CGAGAATTATCCTGTGAAGGT 0.393000 40 10 6.40141e-05 0.00018498 0.000978 1 0 ACAP3 116983 broad.mit.edu 37 1 1230920 1230920 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:1230920G>A uc001aeb.2 - 18 1794 c.1720C>T c.(1720-1722)Cgt>Tgt p.R574C ACAP3_uc001ady.2_Missense_Mutation_p.R304C|ACAP3_uc001aea.2_Missense_Mutation_p.R532C NM_030649 NP_085152 Q96P50 ACAP3_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA. 574 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 CGGAACTTACGATCCAGGGTG 0.667000 21 5 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9059418 9059418 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:9059418G>A uc002mkp.3 - 2 28232 c.28028C>T c.(28027-28029)tCa>tTa p.S9343L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9345 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 GGAGGTGTCTGATGACATTGT 0.512000 76 28 0 0 0.005443 0 0 TEX11 56159 broad.mit.edu 37 X 70093151 70093151 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:70093151C>T uc004dyl.3 - 4 373 c.211G>A c.(211-213)Gaa>Aaa p.E71K TEX11_uc004dym.3_Missense_Mutation_p.E56K NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA. 71 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) ACTGCCATTTCTTCAATCTGG 0.358000 15 13 0 0 0.002450 0 0 SCN7A 6332 broad.mit.edu 37 2 167322306 167322306 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:167322306G>A uc002udu.2 - 6 986 c.856C>T c.(856-858)Cca>Tca p.P286S SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 286 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ATATAATATGGGTTTCCAGTT 0.393000 63 47 0 0 0.003610 0 0 TKT 7086 broad.mit.edu 37 3 53265528 53265528 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:53265528G>A uc003dgo.3 - 6 959 c.787C>T c.(787-789)Ccc>Tcc p.P263S TKT_uc003dgp.2_5'Flank|TKT_uc011beo.1_Missense_Mutation_p.P216S|TKT_uc003dgq.3_Missense_Mutation_p.P263S|TKT_uc011beq.2_Missense_Mutation_p.P271S|TKT_uc011ber.2_Missense_Mutation_p.P65S NM_001135055 NP_001128527 P29401 TKT_HUMAN Homo sapiens transketolase (TKT), transcript variant 2, mRNA. 263 energy reserve metabolic process|xylulose biosynthetic process cytosol protein binding|transketolase activity endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 Prostate(884;0.0959) BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201) Thiamine(DB00152) ATGTTTTTGGGGAGGGGCTTC 0.557000 33 16 0 0 0.008871 0 0 ARSH 347527 broad.mit.edu 37 X 2933118 2933118 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:2933118G>A uc011mhj.2 + 3 448 c.448G>A c.(448-450)Gac>Aac p.D150N NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 150 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) ACTTTTAAGCGACTGCCAGGC 0.532000 6 10 0 0 0.008291 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499593 59499593 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:59499593G>A uc002agb.3 + 0 552 c.454G>A c.(454-456)Gga>Aga p.G152R MYO1E_uc002aga.3_Intron NM_033195 NP_149972 Q9BYZ2 LDH6B_HUMAN Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA. 152 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) CCAAGAAAAGGGAGAAACGCG 0.423000 70 28 0 0 0.007291 0 0 LTF 4057 broad.mit.edu 37 3 46490375 46490375 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:46490375C>T uc003cpq.3 - 8 1432 c.1191G>A c.(1189-1191)gaG>gaA p.E397E LTF_uc003fzr.3_Silent_p.E353E|LTF_uc010hjh.3_Silent_p.E397E|LTF_uc003cpr.3_Silent_p.E384E NM_002343 NP_001186078 P02788 TRFL_HUMAN Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA. 397 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) CGATGCAGTCCTCTGTGGTGG 0.642000 39 15 0 0 0.006122 0 0 MXRA5 25878 broad.mit.edu 37 X 3228297 3228297 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:3228297G>A uc004crg.4 - 6 8104 c.7947C>T c.(7945-7947)atC>atT p.I2649I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2649 Ig-like C2-type 11. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CACCATTGATGATGCTGACCA 0.627000 25 29 0 0 0.006320 0 0 GRK7 131890 broad.mit.edu 37 3 141497384 141497384 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:141497384C>T uc011bnd.2 + 0 342 c.258C>T c.(256-258)ttC>ttT p.F86F NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA. 86 RGS. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CGGCAACCTTCCTAGAGGACG 0.662000 37 6 0 0 0.001984 0 0 TMC3 342125 broad.mit.edu 37 15 81627285 81627285 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:81627285C>T uc021ssk.1 - 20 2235 c.2235G>A c.(2233-2235)aaG>aaA p.K745K TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN Homo sapiens transmembrane channel-like 3 (TMC3), mRNA. 745 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 TTGGAAGCTTCTTGGTGCTTT 0.547000 47 4 0 0 0.000602 0 0 LPAR1 1902 broad.mit.edu 37 9 113704020 113704020 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:113704020C>T uc011lwo.2 - 1 479 c.477G>A c.(475-477)cgG>cgA p.R159R LPAR1_uc004bfa.3_Silent_p.R158R|LPAR1_uc011lwm.2_Silent_p.R159R|LPAR1_uc004bfc.3_Silent_p.R158R|LPAR1_uc011lwn.2_Silent_p.R140R|LPAR1_uc004bfb.3_Silent_p.R158R|LPAR1_uc010mub.3_Silent_p.R158R NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 158 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane p.R158W(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GGTTGCTCATCCGTGTGTGGA 0.537000 46 11 0 0 0.000978 0 0 ZNF831 128611 broad.mit.edu 37 20 57766725 57766725 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:57766725G>A uc002yan.3 + 0 651 c.651G>A c.(649-651)ggG>ggA p.G217G NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 217 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGGAGGAAGGGGACAAGGCCG 0.687000 55 21 0 0 0.001882 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29848290 29848290 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:29848290G>A uc002hgn.1 + 4 899 c.670G>A c.(670-672)Gat>Aat p.D224N RAB11FIP4_uc002hgo.2_Missense_Mutation_p.D122N NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA. 224 Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|Rab GTPase binding|calcium ion binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) GGAGGGTGACGATGTGGACTG 0.587000 63 25 0 0 0.003330 0 0 NPNT 255743 broad.mit.edu 37 4 106888537 106888537 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:106888537G>A uc011cfd.2 + 11 1841 c.1628G>A c.(1627-1629)gGa>gAa p.G543E NPNT_uc011cfc.2_Missense_Mutation_p.G530E|NPNT_uc011cfe.2_Missense_Mutation_p.G514E|NPNT_uc003hya.3_Missense_Mutation_p.G513E|NPNT_uc011cff.2_Missense_Mutation_p.G484E NM_001184691 NP_001171620 Q6UXI9 NPNT_HUMAN Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA. 513 MAM. cell differentiation membrane calcium ion binding kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;5.41e-07) GCCCTGTGGGGAAGAAATGGT 0.582000 32 12 0 0 0.001368 0 0 RNF17 56163 broad.mit.edu 37 13 25433165 25433165 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:25433165G>A uc001upr.3 + 25 3678 c.3637G>A c.(3637-3639)Gaa>Aaa p.E1213K RNF17_uc010tdd.1_Missense_Mutation_p.E1072K|RNF17_uc010tde.2_Missense_Mutation_p.E1209K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.E1152K|RNF17_uc010aac.3_Missense_Mutation_p.E411K|RNF17_uc010aad.3_Missense_Mutation_p.E265K NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA. 1213 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.E1213*(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) AATGACAAATGAAATTCAAAG 0.308000 21 7 0 0 0.001984 0 0 CLN3 1201 broad.mit.edu 37 16 28502851 28502851 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:28502851G>A uc002dpo.3 - 1 400 c.77C>T c.(76-78)cCt>cTt p.P26L NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Intron|CLN3_uc002dpm.3_Intron|CLN3_uc010vcu.2_Intron|CLN3_uc010vcv.2_Missense_Mutation_p.P26L|CLN3_uc002dpp.3_Missense_Mutation_p.P26L|CLN3_uc021tfs.1_5'Flank|CLN3_uc002dpt.1_5'UTR|CLN3_uc002dpq.1_Missense_Mutation_p.P26L|CLN3_uc010bye.1_Missense_Mutation_p.P26L|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.L28F|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Intron|CLN3_uc002dqa.2_Missense_Mutation_p.P77L|CLN3_uc010vcx.1_5'UTR|CLN3_uc002dpx.1_Missense_Mutation_p.P26L|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_Intron NM_000086 NP_001035897 Q13286 CLN3_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA. 26 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 GTCCAACAGAGGGAGCCGGGG 0.632000 OREG0023706 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 20 0 0 0.003330 0 0 CSF3 1440 broad.mit.edu 37 17 38173119 38173119 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:38173119C>T uc002htp.3 + 4 645 c.531C>T c.(529-531)ttC>ttT p.F177F CSF3_uc002hto.3_Silent_p.F174F|CSF3_uc002htq.3_Silent_p.F170F|CSF3_uc021tww.1_Silent_p.F138F|CSF3_uc021twx.1_Silent_p.F141F|CSF3_uc010wep.2_Silent_p.F134F NM_000759 NP_000750 P09919 CSF3_HUMAN Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA. 177 cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation extracellular space cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity endometrium(1)|ovary(1)|prostate(1) 3 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CCTCTGCTTTCCAGCGCCGGG 0.647000 33 13 0 0 0.001855 0 0 OR8K1 390157 broad.mit.edu 37 11 56113754 56113754 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:56113754C>T uc010rjg.2 + 0 240 c.240C>T c.(238-240)tcC>tcT p.S80S NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA. 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) TTGGTTACTCCACTGTCATTG 0.408000 HNSCC(65;0.19) 89 17 0 0 0.006122 0 0 C11orf74 119710 broad.mit.edu 37 11 36654869 36654869 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:36654869G>A uc001mwy.1 + 2 245 c.172G>A c.(172-174)Gat>Aat p.D58N C11orf74_uc001mwx.1_Intron|C11orf74_uc001mwz.1_Intron|C11orf74_uc010rfe.1_Non-coding_Transcript|C11orf74_uc010rfd.2_Non-coding_Transcript NM_138787 NP_620142 Q86VG3 CK074_HUMAN Homo sapiens chromosome 11 open reading frame 74 (C11orf74), mRNA. 58 breast(1)|kidney(1)|large_intestine(1)|lung(5) 8 all_lung(20;0.226) all_hematologic(20;0.0118) GTTTGGAACTGATTCTTCAGA 0.338000 39 14 0 0 0.006122 0 0 MYL1 4632 broad.mit.edu 37 2 211159076 211159076 + Missense_Mutation SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:211159076T>C uc002vec.3 - 3 500 c.371A>G c.(370-372)aAg>aGg p.K124R MYL1_uc002veb.3_Missense_Mutation_p.K80R NM_079420 NP_524144 P05976 MYL1_HUMAN Homo sapiens myosin, light chain 1, alkali; skeletal, fast (MYL1), transcript variant 1f, mRNA. 124 muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 16 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GGCCTGGTCCTTGTTGTTGGA 0.448000 49 15 0 0 0.003163 0 0 CPXM2 119587 broad.mit.edu 37 10 125516860 125516860 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:125516860C>T uc001lhk.1 - 11 2111 c.1786G>A c.(1786-1788)Gat>Aat p.D596N CPXM2_uc001lhj.3_Non-coding_Transcript NM_198148 NP_937791 Q8N436 CPXM2_HUMAN Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA. 596 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TAGCTGAAATCGTTCAGACCT 0.493000 28 14 0 0 0.001855 0 0 DNMBP 23268 broad.mit.edu 37 10 101654768 101654768 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:101654768G>A uc001kqj.2 - 10 3183 c.3091C>T c.(3091-3093)Cga>Tga p.R1031* DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Nonsense_Mutation_p.R319*|DNMBP_uc001kqh.2_Nonsense_Mutation_p.R663* NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN Homo sapiens dynamin binding protein (DNMBP), mRNA. 1031 BAR. intracellular signal transduction|regulation of Rho protein signal transduction Golgi stack|cell junction|cytoskeleton|synapse Rho guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) TCTTGCATTCGGAAGTTTTTT 0.363000 16 5 0 0 0.000602 0 0 DNM1 1759 broad.mit.edu 37 9 130984795 130984795 + Nonsense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:130984795C>T uc022bob.1 + 7 1135 c.1048C>T c.(1048-1050)Cag>Tag p.Q350* DNM1_uc022bnx.1_Nonsense_Mutation_p.Q350*|DNM1_uc022bny.1_Nonsense_Mutation_p.Q350*|DNM1_uc022bnz.1_Nonsense_Mutation_p.Q350*|DNM1_uc022boa.1_Nonsense_Mutation_p.Q350* NM_004408 NP_004399 Q05193 DYN1_HUMAN Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA. 350 receptor-mediated endocytosis microtubule GTP binding|GTPase activity p.Q350E(3) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2) 32 CTCAGGAGATCAGATCGACAC 0.607000 50 17 0 0 0.007413 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147374 26147374 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:26147374G>A uc002dof.3 + 1 1568 c.1176G>A c.(1174-1176)aaG>aaA p.K392K NM_006040 NP_006031 Q9Y661 HS3S4_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA. 392 heparan sulfate proteoglycan metabolic process Golgi membrane|extracellular region|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) ACAAAACCAAGGGGTTCCCTT 0.512000 15 15 0 0 0.002450 0 0 ZNF536 9745 broad.mit.edu 37 19 31039424 31039424 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:31039424G>A uc002nsu.1 + 3 3036 c.2898G>A c.(2896-2898)agG>agA p.R966R ZNF536_uc010edd.1_Silent_p.R966R NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 966 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) CCTCCCAGAGGAAGTCCGAGA 0.577000 91 21 0 0 0.002299 0 0 TRIML2 205860 broad.mit.edu 37 4 189013006 189013006 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:189013006C>T uc011cle.1 - 7 1132 c.910G>A c.(910-912)Gat>Aat p.D304N TRIML2_uc003izj.1_Missense_Mutation_p.D57N|TRIML2_uc003izk.1_Missense_Mutation_p.D37N|TRIML2_uc003izl.2_Missense_Mutation_p.D229N NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA. 229 B30.2/SPRY. ligase activity p.V304V(1)|p.W303C(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) CCAGCCCCATCCTGCTGCCCA 0.527000 66 24 0 0 0.003330 0 0 LRTM1 57408 broad.mit.edu 37 3 54959082 54959082 + Missense_Mutation SNP A T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:54959082A>T uc003dhl.3 - 1 302 c.168T>A c.(166-168)caT>caA p.H56Q CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA. 56 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) TATCTTGTAAATGCAGCGTTC 0.443000 34 12 0 0 0.000978 0 0 BAG4 9530 broad.mit.edu 37 8 38065064 38065064 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:38065064C>T uc003xky.2 + 2 695 c.413C>T c.(412-414)cCa>cTa p.P138L BAG4_uc003xkz.2_Missense_Mutation_p.P102L NM_004874 NP_004865 O95429 BAG4_HUMAN Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA. 138 anti-apoptosis|apoptosis|protein folding cytoplasm|nucleus receptor signaling protein activity breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1) 11 Colorectal(12;0.000442) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121) GCGTATGGTCCAACATACCCC 0.423000 27 15 0 0 0.004007 0 0 HBD 3045 broad.mit.edu 37 11 5255382 5255382 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:5255382G>A uc001maf.1 - 1 349 c.154C>T c.(154-156)Cct>Tct p.P52S NM_000519 NP_000510 P02042 HBD_HUMAN Homo sapiens hemoglobin, delta (HBD), mRNA. 52 P -> R (in Adria; dbSNP:rs34489183). blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 16 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAGCATCAGGAGAGGACAGA 0.537000 75 25 0 0 0.003330 0 0 OR52E8 390079 broad.mit.edu 37 11 5878415 5878415 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:5878415G>A uc010qzr.2 - 0 518 c.518C>T c.(517-519)cCc>cTc p.P173L TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA. 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L172L(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCACAGAAGGGCAGCCTCAG 0.507000 62 29 0 0 0.007291 0 0 ANKRD5 63926 broad.mit.edu 37 20 10030179 10030179 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:10030179C>T uc002wno.3 + 6 1355 c.962C>T c.(961-963)cCa>cTa p.P321L LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.P321L|ANKRD5_uc010gbz.3_Missense_Mutation_p.P132L NM_022096 NP_942093 Q9NU02 ANKR5_HUMAN Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA. 321 calcium ion binding p.P321S(1) breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 37 GCCAAAAATCCAAATCCACTG 0.527000 58 37 0 0 0.003271 0 0 OR9A2 135924 broad.mit.edu 37 7 142723915 142723915 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:142723915G>A uc003wcc.1 - 0 305 c.305C>T c.(304-306)tCc>tTc p.S102F NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) GGTCCCACAGGAAAAGTTGAG 0.463000 57 13 0 0 0.001368 0 0 CD33 945 broad.mit.edu 37 19 51729249 51729249 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:51729249C>T uc002pwa.2 + 2 649 c.609C>T c.(607-609)ccC>ccT p.P203P CD33_uc010eos.1_Silent_p.P203P|CD33_uc010eot.1_Silent_p.P76P|CD33_uc010eou.1_Non-coding_Transcript NM_001772 NP_001763 P20138 CD33_HUMAN Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA. 203 Ig-like C2-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) CCCCACGGCCCCAGGACCACG 0.612000 37 7 0 0 0.003080 0 0 FAT1 2195 broad.mit.edu 37 4 187534446 187534446 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:187534446G>A uc003izf.3 - 12 9468 c.9280C>T c.(9280-9282)Cat>Tat p.H3094Y NM_005245 NP_005236 Q14517 FAT1_HUMAN Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA. 3094 Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ACGAGAAGATGATAAACAGCT 0.468000 HNSCC(5;0.00058) 36 16 0 0 0.007413 0 0 HEATR7A 727957 broad.mit.edu 37 8 145246704 145246704 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:145246704C>T uc003zbk.4 + 8 1038 c.801C>T c.(799-801)ctC>ctT p.L267L HEATR7A_uc003zbg.2_Silent_p.L267L|HEATR7A_uc003zbi.4_Silent_p.L267L|HEATR7A_uc003zbh.4_Silent_p.L267L|HEATR7A_uc011lla.1_Silent_p.L267L|HEATR7A_uc010mft.3_Silent_p.L267L NM_032450 NP_115826 Q8NDA8 HTR7A_HUMAN Homo sapiens HEAT repeat containing 7A (HEATR7A), transcript variant 1, mRNA. 267 binding endometrium(2)|kidney(2)|lung(3)|skin(1) 8 CCAAGCTCCTCCCTGGGATTC 0.612000 18 4 0 0 0.000248 0 0 MTUS2 23281 broad.mit.edu 37 13 29598914 29598914 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:29598914G>A uc001usl.4 + 0 167 c.109G>A c.(109-111)Gaa>Aaa p.E37K NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA. 27 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 AAATAATAATGAAAGCATCTT 0.458000 37 12 0 0 0.000978 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912768 29912768 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:29912768G>A uc002dut.3 + 0 622 c.476G>A c.(475-477)tGg>tAg p.W159* BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_5'Flank|SEZ6L2_uc010vec.2_5'Flank|SEZ6L2_uc002dur.4_5'Flank|SEZ6L2_uc002duq.4_5'Flank|SEZ6L2_uc010ved.2_5'Flank|SEZ6L2_uc002dus.4_5'Flank|ASPHD1_uc002duu.3_Non-coding_Transcript|ASPHD1_uc010bzi.2_Non-coding_Transcript NM_181718 NP_859069 Q5U4P2 ASPH1_HUMAN Homo sapiens aspartate beta-hydroxylase domain containing 1 (ASPHD1), mRNA. 159 Gly-rich. peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CGCTACTCCTGGGCTGGGATG 0.692000 23 11 0 0 0.008291 0 0 TLR8 51311 broad.mit.edu 37 X 12939508 12939508 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:12939508C>T uc004cvd.3 + 2 2573 c.2403C>T c.(2401-2403)ttC>ttT p.F801F TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.F783F NM_138636 NP_619542 Q9NR97 TLR8_HUMAN Homo sapiens toll-like receptor 8 (TLR8), mRNA. 783 LRRCT. I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|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 endosome membrane DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 TTGGAGATTTCCGAAGATGGA 0.433000 17 26 0 0 0.004656 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55378025 55378025 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:55378025C>T uc002qhl.4 + 8 1270 c.1207C>T c.(1207-1209)Cac>Tac p.H403Y KIR3DL2_uc002qho.4_Missense_Mutation_p.H403Y|KIR3DL2_uc010esh.3_Missense_Mutation_p.H386Y P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 403 cellular defense response|regulation of immune response integral to plasma membrane receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 23 GBM - Glioblastoma multiforme(193;0.0192) ACAGTTGGATCACTGCGTTTT 0.512000 211 65 0 0 0.003610 0 0 PNCK 139728 broad.mit.edu 37 X 152938025 152938026 + Missense_Mutation DNP GG AA AA rs139296709 byFrequency TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:152938025_152938026GG>AA uc011myu.2 - 2 630_631 c.444_445CC>TT c.(442-447)ctccgt>ctTTgt p.R149C PNCK_uc011myt.2_Missense_Mutation_p.R83C|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_Missense_Mutation_p.R149C|PNCK_uc011myv.2_Missense_Mutation_p.R93C|PNCK_uc011myw.2_Missense_Mutation_p.R93C NM_001039582 NP_001034671 Q6P2M8 KCC1B_HUMAN Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA. 66 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCGCACCTACGGAGCACTGCGA 0.683000 17 22 0 0 0.004672 0 0 FLG2 388698 broad.mit.edu 37 1 152327262 152327262 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:152327262G>A uc001ezw.4 - 2 3073 c.3000C>T c.(2998-3000)ggC>ggT p.G1000G AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1000 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AACCATGTTGGCCATAATTAG 0.498000 207 165 0 0 0.003610 0 0 ACAN 176 broad.mit.edu 37 15 89401563 89401563 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:89401563G>A uc010upo.1 + 11 6121 c.5747G>A c.(5746-5748)aGc>aAc p.S1916N ACAN_uc010upp.1_Missense_Mutation_p.S1916N|ACAN_uc002bna.2_Non-coding_Transcript NM_013227 NP_037359 E7EX88 E7EX88_HUMAN Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA. 1916 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ATTGGGAGCAGCCTGCCCTCG 0.522000 53 15 0 0 0.003163 0 0 USP2 9099 broad.mit.edu 37 11 119228485 119228485 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:119228485G>A uc001pwm.4 - 9 1778 c.1483C>T c.(1483-1485)Cca>Tca p.P495S USP2_uc001pwl.4_Missense_Mutation_p.P286S|USP2_uc001pwn.4_Missense_Mutation_p.P252S NM_004205 NP_004196 O75604 UBP2_HUMAN Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA. 495 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity p.P495Q(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) AAGATCTTTGGGAACCTCTGG 0.502000 284 85 0 0 0.003610 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711097 58711097 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:58711097C>T uc001nnh.2 + 1 156 c.106C>T c.(106-108)Cca>Tca p.P36S GLYATL1_uc001nnf.3_5'UTR|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_5'UTR|GLYATL1_uc001nnj.2_5'UTR NM_080661 NP_542392 Q969I3 GLYL1_HUMAN Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA. 0 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) cctgcaggatccaattgtgtc 0.468000 29 9 0 0 0.006214 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12887371 12887371 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:12887371C>T uc001auk.2 - 2 682 c.486G>A c.(484-486)gtG>gtA p.V162V NM_001146344 NP_001139816 O60813 PRA11_HUMAN Homo sapiens PRAME family member 11 (PRAMEF11), mRNA. 162 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 AGTCTAGGTTCACCATTTTCA 0.463000 234 97 0 0 0.003610 0 0 ADCY2 108 broad.mit.edu 37 5 7709339 7709339 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:7709339C>T uc003jdz.1 + 9 1484 c.1417C>T c.(1417-1419)Ccc>Tcc p.P473S ADCY2_uc011cmo.1_Missense_Mutation_p.P293S NM_020546 NP_065433 Q08462 ADCY2_HUMAN Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA. 473 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACGACGGAGCCCCCAGCATCT 0.592000 29 10 0 0 0.001368 0 0 MSN 4478 broad.mit.edu 37 X 64959629 64959629 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:64959629C>T uc004dwf.3 + 12 1806 c.1608C>T c.(1606-1608)tcC>tcT p.S536S NM_002444 NP_002435 P26038 MOES_HUMAN Homo sapiens moesin (MSN), mRNA. 536 leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton MSN/ALK(6) breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 43 GAGATGAGTCCAAGAAGACTG 0.522000 T ALK ALCL 17 22 0 0 0.001882 0 0 MPPED1 758 broad.mit.edu 37 22 43831060 43831060 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr22:43831060G>A uc011apz.2 + 2 771 c.430G>A c.(430-432)Gac>Aac p.D144N MPPED1_uc011apv.2_Missense_Mutation_p.D111N|MPPED1_uc011apw.2_Missense_Mutation_p.D5N|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Missense_Mutation_p.D111N NM_001044370 NP_001037835 O15442 MPPD1_HUMAN Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA. 111 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GCCGTACGGCGACGTGCTGAT 0.657000 39 47 0 0 0.003610 0 0 SLC24A6 80024 broad.mit.edu 37 12 113770601 113770601 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:113770601C>T uc001tvc.3 - 1 293 c.83G>A c.(82-84)aGg>aAg p.R28K SLC24A6_uc001tvd.1_Missense_Mutation_p.R28K NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA. 28 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 AGACGAGCCCCTAGTCCCAGA 0.607000 38 16 0 0 0.004990 0 0 FAM108A1 81926 broad.mit.edu 37 19 1881302 1881302 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:1881302G>A uc002luf.3 - 1 670 c.264C>T c.(262-264)gtC>gtT p.V88V FAM108A1_uc002lud.3_Silent_p.V88V|FAM108A1_uc002lue.3_Silent_p.V88V|FAM108A1_uc002lug.3_Silent_p.V88V NM_031213 NP_112490 Q96GS6 F18A1_HUMAN Homo sapiens family with sequence similarity 108, member A1 (FAM108A1), transcript variant 1, mRNA. 88 extracellular region hydrolase activity endometrium(2)|kidney(1)|lung(4)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 14 Ovarian(11;0.000137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTGGGGAAGACCTCGATGG 0.692000 33 10 0 0 0.002780 0 0 PDLIM4 8572 broad.mit.edu 37 5 131607052 131607052 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:131607052C>T uc003kwo.3 + 4 640 c.563C>T c.(562-564)tCc>tTc p.S188F BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Missense_Mutation_p.S188F|PDLIM4_uc003kwp.3_Missense_Mutation_p.S188F NM_003687 NP_003678 P50479 PDLI4_HUMAN Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA. 188 protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1) 10 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GACCTGGGCTCCGAGGTGTAC 0.667000 20 15 0 0 0.004007 0 0 CDH1 999 broad.mit.edu 37 16 68862142 68862142 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:68862142C>T uc002ewg.1 + 13 2354 c.2230C>T c.(2230-2232)Cca>Tca p.P744S CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.P683S NM_004360 NP_004351 P12830 CADH1_HUMAN Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA. 744 adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) CTTACTGCCCCCAGAGGATGA 0.522000 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer 48 39 0 0 0.005524 0 0 C6orf15 29113 broad.mit.edu 37 6 31079793 31079793 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr6:31079793G>A uc003nsk.1 - 1 343 c.343C>T c.(343-345)Cct>Tct p.P115S PSORS1C1_uc003nsl.2_5'Flank|PSORS1C1_uc010jsj.2_5'Flank NM_014070 NP_054789 Q6UXA7 CF015_HUMAN Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA. 115 endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 ATCTGCCAAGGATCCTCAGGG 0.652000 55 17 0 0 0.001523 0 0 OR8K3 219473 broad.mit.edu 37 11 56085949 56085949 + Missense_Mutation SNP A G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:56085949A>G uc010rjf.2 + 0 167 c.167A>G c.(166-168)cAa>cGa p.Q56R NM_001005202 NP_001005202 Q8NH51 OR8K3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA. 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) TCCAGGTTGCAAACCCCTATG 0.418000 121 38 0 0 0.006230 0 0 SNAPC4 6621 broad.mit.edu 37 9 139273457 139273457 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:139273457G>A uc004chh.3 - 20 2831 c.2822C>T c.(2821-2823)cCa>cTa p.P941L NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA. 941 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 33 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) ACCCGGGGCTGGGCGGCCGTG 0.701000 32 9 0 0 0.008291 0 0 SLC1A7 6512 broad.mit.edu 37 1 53600048 53600048 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:53600048C>T uc021onn.1 - 1 357 c.189G>A c.(187-189)atG>atA p.M63I SLC1A7_uc021onm.1_Missense_Mutation_p.M63I|SLC1A7_uc001cuy.3_Missense_Mutation_p.M63I|SLC1A7_uc021ono.1_Non-coding_Transcript|SLC1A7_uc001cuz.4_Missense_Mutation_p.M63I NM_006671 NP_006662 O00341 EAA5_HUMAN Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA. 63 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GCAGGATCATCATCTTCAGCA 0.532000 22 11 0 0 0.003163 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190876 42190876 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:42190876G>A uc002ori.1 - 1 343 c.341C>T c.(340-342)aCc>aTc p.T114I CEACAM7_uc010ehx.2_Missense_Mutation_p.T114I|CEACAM7_uc010ehy.1_Missense_Mutation_p.T114I NM_006890 NP_008821 Q14002 CEAM7_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA. 114 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) GTCATTGTGGGTGACGTTCTG 0.428000 112 44 0 0 0.003610 0 0 FRAS1 80144 broad.mit.edu 37 4 79400617 79400617 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:79400617G>A uc003hlb.2 + 55 8628 c.8188G>A c.(8188-8190)Gat>Aat p.D2730N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA. 2725 Calx-beta 2. cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 ATCAGGCTCTGATTTTAAATC 0.463000 29 12 0 0 0.001855 0 0 ANK2 287 broad.mit.edu 37 4 114170951 114170951 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:114170951G>A uc003ibe.4 + 9 1023 c.923G>A c.(922-924)cGa>cAa p.R308Q ANK2_uc003ibd.4_Missense_Mutation_p.R287Q|ANK2_uc003ibf.4_Missense_Mutation_p.R308Q|ANK2_uc003ibc.2_Missense_Mutation_p.R284Q|ANK2_uc011cgb.1_Missense_Mutation_p.R323Q NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 308 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) TGTGCTGCACGAAGTGGGCAT 0.458000 58 15 0 0 0.008871 0 0 TMC2 117532 broad.mit.edu 37 20 2582822 2582822 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:2582822C>T uc002wgf.1 + 10 1303 c.1288C>T c.(1288-1290)Cgt>Tgt p.R430C TMC2_uc002wgg.1_Missense_Mutation_p.R414C|TMC2_uc010zpw.1_Missense_Mutation_p.R262C|TMC2_uc010zpx.1_Missense_Mutation_p.R261C NM_080751 NP_542789 Q8TDI7 TMC2_HUMAN Homo sapiens transmembrane channel-like 2 (TMC2), mRNA. 430 integral to membrane p.R430H(1) NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 AAGATTTCTTCGTGTCCTGGC 0.388000 57 17 0 0 0.004990 0 0 HOXA3 3200 broad.mit.edu 37 7 27148070 27148070 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:27148070G>A uc011jzl.2 - 2 996 c.796C>T c.(796-798)Cgc>Tgc p.R266C HOXA3_uc003syk.3_Missense_Mutation_p.R266C NM_030661 NP_705895 O43365 HXA3_HUMAN Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA. 266 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 ACGGGGCTGCGACTTGGAGAC 0.602000 63 80 0 0 0.003610 0 0 P2RY14 9934 broad.mit.edu 37 3 150931748 150931748 + Missense_Mutation SNP T A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:150931748T>A uc003eyr.1 - 2 835 c.357A>T c.(355-357)agA>agT p.R119S MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.R119S|P2RY14_uc021xfz.1_Missense_Mutation_p.R119S NM_001081455 NP_055694 Q15391 P2Y14_HUMAN Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA. 119 integral to membrane|plasma membrane UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1) 20 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTTTATAATATCTGTCAAAGC 0.453000 34 16 0 0 0.003163 0 0 ESYT1 23344 broad.mit.edu 37 12 56530608 56530608 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:56530608C>T uc001sjr.3 + 15 1861 c.1743C>T c.(1741-1743)atC>atT p.I581I ESYT1_uc001sjq.3_Silent_p.I571I NM_001184796 NP_001171725 Q9BSJ8 ESYT1_HUMAN Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA. 571 integral to membrane breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 28 CAGAACTCATCCTGGACCAGT 0.552000 38 34 0 0 0.002096 0 0 ZNF507 22847 broad.mit.edu 37 19 32845425 32845425 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:32845425C>T uc002nte.3 + 2 1961 c.1689C>T c.(1687-1689)acC>acT p.T563T ZNF507_uc002ntc.2_Silent_p.T563T|ZNF507_uc010xrn.1_Silent_p.T563T|ZNF507_uc002ntd.3_Silent_p.T563T NM_001136156 NP_055725 Q8TCN5 ZN507_HUMAN Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA. 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) GCAACTCCACCTTGGTAGCAC 0.433000 41 21 0 0 0.002780 0 0 VTCN1 79679 broad.mit.edu 37 1 117699392 117699392 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:117699392G>A uc001ehb.3 - 2 354 c.249C>T c.(247-249)ttC>ttT p.F83F VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA. 83 Ig-like V-type 1. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) TGCCTTCTTTGAACTCATGGA 0.468000 70 23 0 0 0.003330 0 0 DCTN1 1639 broad.mit.edu 37 2 74593378 74593378 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:74593378G>A uc002skx.3 - 22 3071 c.2753C>T c.(2752-2754)cCc>cTc p.P918L SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Missense_Mutation_p.P784L|DCTN1_uc002sku.3_Missense_Mutation_p.P784L|DCTN1_uc002skw.2_Missense_Mutation_p.P911L|DCTN1_uc010ffd.3_Missense_Mutation_p.P898L|DCTN1_uc002sky.3_Missense_Mutation_p.P881L NM_004082 NP_004073 Q14203 DCTN1_HUMAN Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA. 918 G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TACCTTGCTGGGGGGCCGCTC 0.562000 72 29 0 0 0.001786 0 0 RASGRF2 5924 broad.mit.edu 37 5 80382667 80382667 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:80382667G>A uc003kha.2 + 8 1335 c.1285G>A c.(1285-1287)Gaa>Aaa p.E429K RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.E257K NM_006909 NP_008840 O14827 RGRF2_HUMAN Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA. 429 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane Rho guanyl-nucleotide exchange factor activity|protein binding p.E429*(2) biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AATGCACGATGAAGTCAGCGA 0.468000 28 6 0 0 0.001168 0 0 SLC6A13 6540 broad.mit.edu 37 12 344336 344336 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:344336G>A uc001qic.2 - 6 841 c.751C>T c.(751-753)Cga>Tga p.R251* SLC6A13_uc009zdj.2_Nonsense_Mutation_p.R251*|SLC6A13_uc010sdl.2_Nonsense_Mutation_p.R159*|SLC6A13_uc010sdm.1_Nonsense_Mutation_p.R132* NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA. 251 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) GTCACCCCTCGAATTAACAGG 0.537000 26 25 0 0 0.003330 0 0 KYNU 8942 broad.mit.edu 37 2 143643031 143643031 + Missense_Mutation SNP A C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:143643031A>C uc010fnm.3 + 2 311 c.95A>C c.(94-96)cAc>cCc p.H32P KYNU_uc002tvk.3_Missense_Mutation_p.H32P|KYNU_uc002tvl.3_Missense_Mutation_p.H32P NM_001199241 NP_001186170 Q16719 KYNU_HUMAN Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA. 32 NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) GTGGCTCTCCACCTAGATGAG 0.498000 37 12 0 0 0.000978 0 0 POLQ 10721 broad.mit.edu 37 3 121207238 121207238 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:121207238G>A uc003eee.4 - 15 4669 c.4540C>T c.(4540-4542)Cct>Tct p.P1514S POLQ_uc003eed.3_Missense_Mutation_p.P686S NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 1514 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) ACTTCTGAAGGAAGGGGTTCT 0.323000 DNA polymerases (catalytic subunits) 47 21 0 0 0.008871 0 0 FCGR1C 100132417 broad.mit.edu 37 1 149376714 149376715 + RNA DNP CC TT TT TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:149376714_149376715CC>TT uc010pbh.2 + 4 c.653_654CC>TT Homo sapiens Fc fragment of IgG, high affinity Ic, receptor (CD64), pseudogene (FCGR1C), non-coding RNA. CTGTGACATCCCCACTCCTGGG 0.505000 32 22 0 0 0.004672 0 0 L1TD1 54596 broad.mit.edu 37 1 62675897 62675897 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:62675897G>A uc021ooc.1 + 4 1886 c.1451G>A c.(1450-1452)gGa>gAa p.G484E L1TD1_uc001dae.4_Missense_Mutation_p.G484E NM_001164835 NP_061952 Q5T7N2 LITD1_HUMAN Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA. 484 Glu-rich. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 GAAGAAGAAGGAAAGAGCTCT 0.413000 22 14 0 0 0.001855 0 0 ME3 10873 broad.mit.edu 37 11 86158220 86158220 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:86158220C>T uc001pbz.3 - 10 1521 c.1267G>A c.(1267-1269)Gag>Aag p.E423K ME3_uc001pca.3_Missense_Mutation_p.E423K|ME3_uc009yvk.3_Missense_Mutation_p.E423K NM_001014811 NP_001155058 Q16798 MAON_HUMAN Homo sapiens malic enzyme 3, NADP(+)-dependent, mitochondrial (ME3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 423 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix NAD binding|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) AGAATCTGCTCCGTGAAGGCT 0.577000 52 20 0 0 0.001523 0 0 FBN3 84467 broad.mit.edu 37 19 8191396 8191396 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:8191396G>A uc002mjf.3 - 18 2527 c.2510C>T c.(2509-2511)aCc>aTc p.T837I NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 837 TB 4. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGCCCCGAGGGTGGCGCAGCA 0.662000 17 8 0 0 0.004482 0 0 TLE4 7091 broad.mit.edu 37 9 82267687 82267687 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:82267687C>T uc004ald.3 + 6 1398 c.549C>T c.(547-549)caC>caT p.H183H TLE4_uc004alc.3_Silent_p.H190H|TLE4_uc010mpr.3_Silent_p.H69H|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.H158H|TLE4_uc010mps.3_Silent_p.H183H|TLE4_uc004alf.3_Silent_p.H129H NM_007005 NP_008936 O60756 BCE1_HUMAN Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA. 0 breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 39 AGAAGAAGCACCATGACAATG 0.498000 74 12 0 0 0.001855 0 0 PKD2L1 9033 broad.mit.edu 37 10 102057345 102057345 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:102057345C>T uc001kqx.1 - 4 1133 c.750G>A c.(748-750)caG>caA p.Q250Q PKD2L1_uc009xwm.1_Silent_p.Q203Q NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA. 250 signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 43 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) CCAACTCATCCTGCGAGTGGT 0.562000 11 5 0 0 0.000602 0 0 ASTN2 23245 broad.mit.edu 37 9 119202937 119202937 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:119202937C>T uc004bjt.2 - 20 3681 c.3580G>A c.(3580-3582)Gaa>Aaa p.E1194K ASTN2_uc022bml.1_Missense_Mutation_p.E890K|ASTN2_uc022bmm.1_Missense_Mutation_p.E894K|ASTN2_uc004bjp.2_Missense_Mutation_p.E346K|ASTN2_uc011lxr.2_Missense_Mutation_p.E297K|ASTN2_uc011lxs.2_Missense_Mutation_p.E297K|ASTN2_uc011lxt.2_Missense_Mutation_p.E297K|ASTN2_uc004bjq.2_Missense_Mutation_p.E297K NM_014010 NP_054729 O75129 ASTN2_HUMAN Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA. 1245 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CCAAACTTTTCATAGTGAGAG 0.512000 56 9 0 0 0.006214 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140223241 140223241 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:140223241G>A uc003lhs.2 + 0 2335 c.2335G>A c.(2335-2337)Gat>Aat p.D779N 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_Missense_Mutation_p.D779N NM_018911 NP_061734 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA. 820 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) CCTTCCTCCTGATCTGGGATC 0.493000 39 14 0 0 0.001855 0 0 PABPC1P2 728773 broad.mit.edu 37 2 147346002 147346002 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:147346002G>A uc002twf.4 + 0 1378 c.462G>A c.(460-462)agG>agA p.R154R Homo sapiens poly(A) binding protein, cytoplasmic 1 pseudogene 2 (PABPC1P2), non-coding RNA. GCAGCAAAAGGTTTGGCTTTG 0.403000 22 7 0 0 0.003080 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971116 21971116 + Missense_Mutation SNP G A A rs11552823 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:21971116G>A uc003zpk.3 - 1 548 c.242C>T c.(241-243)cCc>cTc p.P81L MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.P81L|CDKN2A_uc003zpl.3_Silent_p.T95T NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 81 P -> L (in some patients with melanoma; impairs the function; dbSNP:rs11552823).|P -> T (in CMM2; loss of CDK4 binding). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.R80*(100)|p.?(44)|p.P81L(16)|p.P81H(4)|p.R80Q(2)|p.E61_L94del(2)|p.P81_A85del(2)|p.R80fs*34(2)|p.R80?(2)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.R80fs*66(1)|p.P81S(1)|p.A76fs*64(1)|p.P81fs*38(1)|p.A68fs*3(1)|p.R80L(1)|p.P81T(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GTCGTGCACGGGTCGGGTGAG 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 79 48 0 0 0.003610 0 0 ABCA13 154664 broad.mit.edu 37 7 48237956 48237956 + Splice_Site SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:48237956C>T uc003toq.2 + 3 311 c.287_splice c.e3+1 p.R96_splice ABCA13_uc003top.2_Splice_Site_p.R96_splice|ABCA13_uc010kyr.2_Splice_Site NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA. 96 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 GCATCATTTTCGGTAAGAGAA 0.403000 26 4 0 0 0.000248 0 0 ATM 472 broad.mit.edu 37 11 108205756 108205756 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:108205756C>T uc001pkb.1 + 54 8456 c.8071C>T c.(8071-8073)Cgc>Tgc p.R2691C ATM_uc009yxr.1_Missense_Mutation_p.R2691C|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Intron|ATM_uc001pke.2_Missense_Mutation_p.R1343C NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 2691 DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) AGCAGAATTTCGCTTAGCAGG 0.393000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 35 10 0 0 0.000978 0 0 ACPP 55 broad.mit.edu 37 3 132071612 132071612 + Missense_Mutation SNP G A A rs140885758 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:132071612G>A uc010htp.2 + 8 1003 c.913G>A c.(913-915)Gga>Aga p.G305R ACPP_uc003eon.3_Missense_Mutation_p.G272R|ACPP_uc003eop.4_Missense_Mutation_p.G305R NM_001099 NP_001090 P15309 PPAP_HUMAN Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA. 305 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 TGTTTACAACGGACTCCTTCC 0.433000 59 4 0 0 0.000602 0 0 DHX8 1659 broad.mit.edu 37 17 41599484 41599484 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:41599484C>T uc002idu.1 + 21 3405 c.3333C>T c.(3331-3333)ttC>ttT p.F1111F DHX8_uc010wig.2_Silent_p.F1111F NM_004941 NP_004932 Q14562 DHX8_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA. 1111 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding p.F1111L(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GCAGTGGGTTCTTCCGTAATG 0.517000 54 27 0 0 0.004656 0 0 GNA14 9630 broad.mit.edu 37 9 80049349 80049349 + Silent SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:80049349T>C uc004aku.3 - 2 922 c.399A>G c.(397-399)caA>caG p.Q133Q NM_004297 NP_004288 O95837 GNA14_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha 14 (GNA14), mRNA. 133 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by dopamine receptor signaling pathway|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity p.Q133K(1) endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 TGCCTGGATCTTGCCAGAGCT 0.572000 OREG0019263 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 13 0 0 0.001855 0 0 CSMD2 114784 broad.mit.edu 37 1 34166119 34166119 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:34166119G>A uc001bxm.1 - 22 3908 c.3731C>T c.(3730-3732)tCc>tTc p.S1244F CSMD2_uc001bxn.1_Missense_Mutation_p.S1204F|CSMD2_uc001bxo.1_Missense_Mutation_p.S117F NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 1204 Sushi 7. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGACTTACTGGAAAAGTGCAG 0.438000 37 11 0 0 0.008291 0 0 ZNF71 58491 broad.mit.edu 37 19 57133780 57133780 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:57133780C>T uc002qnm.4 + 2 1363 c.1125C>T c.(1123-1125)atC>atT p.I375I ZNF71_uc021vcg.1_Silent_p.I375I NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN Homo sapiens zinc finger protein 71 (ZNF71), mRNA. 375 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) ACCAGCGCATCCACACCGGCG 0.627000 33 5 0 0 0.000602 0 0 GFI1 2672 broad.mit.edu 37 1 92946641 92946641 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:92946641C>T uc001dou.4 - 3 467 c.303G>A c.(301-303)tcG>tcA p.S101S GFI1_uc001dov.4_Silent_p.S101S|GFI1_uc001dow.4_Silent_p.S101S NM_001127215 NP_005254 Q99684 GFI1_HUMAN Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA. 101 negative regulation of NF-kappaB transcription factor activity|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 15 all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203) OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191) TTGACTTCTCCGAGGCTGTGG 0.682000 12 7 0 0 0.004482 0 0 CACNA1H 8912 broad.mit.edu 37 16 1270155 1270155 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:1270155G>A uc002cks.3 + 34 6471 c.6223G>A c.(6223-6225)Gga>Aga p.G2075R CACNA1H_uc002ckt.3_Missense_Mutation_p.G2069R|CACNA1H_uc002cku.3_Missense_Mutation_p.G770R|CACNA1H_uc010brj.3_Missense_Mutation_p.G786R|CACNA1H_uc002ckv.3_Missense_Mutation_p.G764R NM_021098 NP_066921 O95180 CAC1H_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA. 2075 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) GCATACCTTCGGACAGCGCTG 0.721000 8 11 0 0 0.008291 0 0 KRT37 8688 broad.mit.edu 37 17 39577720 39577720 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:39577720C>T uc002hwp.1 - 5 1187 c.1140G>A c.(1138-1140)ctG>ctA p.L380L NM_003770 NP_003761 O76014 KRT37_HUMAN Homo sapiens keratin 37 (KRT37), mRNA. 380 Coil 2.|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) TCTGCCGCTCCAGGTCGGCCC 0.602000 36 15 0 0 0.003163 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895885 24895885 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:24895885C>T uc001upj.3 + 3 1042 c.981C>T c.(979-981)ttC>ttT p.F327F SPATA13_uc001upe.3_Non-coding_Transcript NM_178540 NP_848635 P0C862 C1T9A_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA. 327 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) TCACAGGGTTCCTTCTGTTCA 0.483000 67 32 0 0 0.006999 0 0 SPPL2A 84888 broad.mit.edu 37 15 51040396 51040396 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:51040396G>A uc001zyv.3 - 3 544 c.364C>T c.(364-366)Cct>Tct p.P122S NM_032802 NP_116191 Q8TCT8 PSL2_HUMAN Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA. 122 PA. integral to membrane aspartic-type endopeptidase activity p.P122A(3) endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314) CCTGAGGGAGGAAACTAAAAA 0.249000 8 3 0 0 0.004672 0 0 DOCK2 1794 broad.mit.edu 37 5 169141086 169141086 + Nonsense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:169141086C>T uc003maf.3 + 17 1794 c.1714C>T c.(1714-1716)Cga>Tga p.R572* DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Nonsense_Mutation_p.R64*|DOCK2_uc010jjl.1_Nonsense_Mutation_p.R90* NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 572 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding p.R572Q(1) NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTTCTTATCGACACCATGT 0.572000 50 15 0 0 0.007413 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44798934 44798934 + Missense_Mutation SNP C A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:44798934C>A uc003tlr.3 + 6 991 c.868C>A c.(868-870)Cag>Aag p.Q290K ZMIZ2_uc003tlq.3_Missense_Mutation_p.Q258K|ZMIZ2_uc003tls.3_Missense_Mutation_p.Q290K|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank NM_031449 NP_113637 Q8NF64 ZMIZ2_HUMAN Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA. 290 Pro-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.Q290H(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CAGCACCGCCCAGTTTGCGCC 0.642000 153 6 0.00198382 0.00570579 0.001984 1 0 TFDP1 7027 broad.mit.edu 37 13 114287486 114287486 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:114287486C>T uc001vtw.3 + 5 572 c.360C>T c.(358-360)tcC>tcT p.S120S TFDP1_uc010tkd.2_Silent_p.S25S|TFDP1_uc010tke.2_Silent_p.S25S|TFDP1_uc001vty.4_Silent_p.S120S|TFDP1_uc010agx.3_Silent_p.S120S NM_007111 NP_009042 Q14186 TFDP1_HUMAN Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA. 120 G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) GGCATTTCTCCATGAAGGTCT 0.522000 TSP Lung(29;0.18) 21 12 0 0 0.001368 0 0 SPATA6L 55064 broad.mit.edu 37 9 4625355 4625355 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:4625355C>T uc011llz.2 - 4 713 c.467G>A c.(466-468)gGa>gAa p.G156E SPATA6L_uc003zik.3_Non-coding_Transcript|SPATA6L_uc003zil.3_Non-coding_Transcript|SPATA6L_uc011lly.2_Missense_Mutation_p.G91E NM_001039395 NP_001034484 B4DIY4 B4DIY4_HUMAN Homo sapiens chromosome 9 open reading frame 68 (C9orf68), mRNA. 156 AGGCTTGCTTCCTCCAGAGAT 0.448000 22 20 0 0 0.001523 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140182605 140182605 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:140182605C>T uc003lhf.2 + 0 1823 c.1823C>T c.(1822-1824)tCg>tTg p.S608L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S608L NM_018906 NP_061729 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA. 621 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) GCGTGGCTTTCGTATGAGCTG 0.677000 53 15 0 0 0.003163 0 0 HOXB3 3213 broad.mit.edu 37 17 46627847 46627847 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:46627847C>T uc002inn.3 - 1 1545 c.1145G>A c.(1144-1146)gGg>gAg p.G382E HOXB3_uc010wlm.2_Missense_Mutation_p.G309E|HOXB3_uc010dbf.3_Missense_Mutation_p.G382E|HOXB3_uc010dbg.3_Missense_Mutation_p.G382E|HOXB3_uc002ino.3_Missense_Mutation_p.G382E|HOXB3_uc010wlk.2_Missense_Mutation_p.G250E|HOXB3_uc010wll.2_Missense_Mutation_p.G309E NM_002146 NP_002137 P14651 HXB3_HUMAN Homo sapiens homeobox B3 (HOXB3), mRNA. 382 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S381S(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 GTCCAGGTTCCCGGAAGGGTG 0.697000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 57 41 0 0 0.002222 0 0 DSCAM 1826 broad.mit.edu 37 21 41496239 41496239 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr21:41496239C>T uc002yyq.1 - 19 4031 c.3579G>A c.(3577-3579)gcG>gcA p.A1193A 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. 1193 Fibronectin type-III 4. 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) CCTTCACACCCGCGGGAGGAC 0.597000 31 18 0 0 0.007413 0 0 ZNF460 10794 broad.mit.edu 37 19 57803142 57803142 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:57803142C>T uc002qog.2 + 2 1555 c.1233C>T c.(1231-1233)ttC>ttT p.F411F ZNF460_uc010ygv.1_Silent_p.F370F NM_006635 NP_006626 Q14592 ZN460_HUMAN Homo sapiens zinc finger protein 460 (ZNF460), mRNA. 411 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCGACACTTCAACATCCACA 0.478000 40 18 0 0 0.007413 0 0 LOC646214 646214 broad.mit.edu 37 15 21937983 21937983 + RNA SNP C T T rs141885846 by1000genomes TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:21937983C>T uc010tzj.1 - 0 c.2757G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. TATGCCTGGGCTTTTTCTCCT 0.448000 448 38 0 0 0.003214 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152082 11152082 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:11152082C>T uc010dxp.3 + 30 4630 c.4270C>T c.(4270-4272)Ccg>Tcg p.P1424S SMARCA4_uc010dxo.3_Missense_Mutation_p.P1456S|SMARCA4_uc002mqf.4_Missense_Mutation_p.P1424S|SMARCA4_uc010dxq.3_Missense_Mutation_p.P1391S|SMARCA4_uc010dxr.3_Missense_Mutation_p.P1391S|SMARCA4_uc002mqj.4_Missense_Mutation_p.P1394S|SMARCA4_uc010dxs.3_Missense_Mutation_p.P1394S|SMARCA4_uc002mqh.4_Missense_Mutation_p.P514S NM_001128844 NP_003063 P51532 SMCA4_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA. 1424 chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.P1424L(2)|p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CTCCTCCACCCCGACCACCAG 0.652000 """F, N, Mis""" NSCLC 23 7 0 0 0.003080 0 0 OR2A12 346525 broad.mit.edu 37 7 143792812 143792812 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:143792812C>T uc011kty.2 + 0 612 c.612C>T c.(610-612)ttC>ttT p.F204F NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA. 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F204Y(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GTTCTGCGTTCATCTTAGTGG 0.527000 184 44 0 0 0.003610 0 0 NOX5 79400 broad.mit.edu 37 15 69347777 69347777 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:69347777G>A uc002ars.2 + 14 2144 c.2103G>A c.(2101-2103)gaG>gaA p.E701E MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.E655E|NOX5_uc002arp.2_Silent_p.E683E|NOX5_uc010bid.2_Silent_p.E666E|NOX5_uc010bie.2_Silent_p.E501E|NOX5_uc002arr.2_Silent_p.E673E|NOX5_uc010bif.2_Non-coding_Transcript NM_024505 NP_078781 Q96PH1 NOX5_HUMAN Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA. 701 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 CCAACAAGGAGAAGAAAGACT 0.582000 60 13 0 0 0.003163 0 0 ITGB4 3691 broad.mit.edu 37 17 73752699 73752699 + Splice_Site SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:73752699G>A uc002jpg.3 + 36 5084 c.4897_splice c.e36+1 p.G1633_splice ITGB4_uc002jph.3_Splice_Site_p.G1563_splice|ITGB4_uc002jpi.4_Splice_Site_p.G1563_splice|ITGB4_uc002jpj.3_Splice_Site_p.G1616_splice NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1633 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCCCTGCCAGGTGAGTTGCCT 0.662000 39 28 0 0 0.005443 0 0 LRRC6 23639 broad.mit.edu 37 8 133623588 133623588 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:133623588G>A uc003ytk.3 - 8 1070 c.996C>T c.(994-996)atC>atT p.I332I LRRC6_uc022bbp.1_Silent_p.I332I|LRRC6_uc003ytl.3_Non-coding_Transcript NM_012472 NP_036604 Q86X45 LRRC6_HUMAN Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA. 332 CS. cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CATCAACATCGATTAAAGAGG 0.299000 47 16 0 0 0.007413 0 0 SAMD9 54809 broad.mit.edu 37 7 92733979 92733979 + Nonsense_Mutation SNP C A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:92733979C>A uc003umf.3 - 2 1702 c.1432G>T c.(1432-1434)Gag>Tag p.E478* SAMD9_uc003umg.3_Nonsense_Mutation_p.E478*|SAMD9_uc022ahg.1_Nonsense_Mutation_p.E478* NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 478 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GAAATCGTCTCATTTGGTGTG 0.393000 86 5 0.00116845 0.00336852 0.001168 1 0 PCDH15 65217 broad.mit.edu 37 10 55721651 55721651 + Splice_Site SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:55721651C>T uc010qhy.1 - 23 3279 c.2884_splice c.e23-1 p.G962_splice PCDH15_uc010qhq.2_Splice_Site_p.G962_splice|PCDH15_uc010qhr.2_Splice_Site_p.G957_splice|PCDH15_uc021pqv.1_Splice_Site_p.G957_splice|PCDH15_uc021pqw.1_Splice_Site_p.G969_splice|PCDH15_uc010qht.2_Splice_Site_p.G964_splice|PCDH15_uc021pqx.1_Splice_Site_p.G957_splice|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Splice_Site_p.G957_splice|PCDH15_uc021pqz.1_Splice_Site_p.G935_splice|PCDH15_uc010qhv.1_Splice_Site_p.G957_splice|PCDH15_uc010qhw.1_Splice_Site_p.G920_splice|PCDH15_uc010qhx.1_Splice_Site_p.G886_splice|PCDH15_uc010qhz.1_Splice_Site_p.G957_splice|PCDH15_uc010qia.1_Splice_Site_p.G935_splice|PCDH15_uc001jju.1_Splice_Site_p.G957_splice|PCDH15_uc010qib.1_Splice_Site_p.G935_splice NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 957 Cadherin 9. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TGCAGGTAATCCCtaaaataa 0.308000 HNSCC(58;0.16) 19 17 0 0 0.004990 0 0 DOCK6 57572 broad.mit.edu 37 19 11326522 11326522 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:11326522G>A uc002mqs.4 - 30 4017 c.3976C>T c.(3976-3978)Ctg>Ttg p.L1326L DOCK6_uc010xlq.2_Silent_p.L665L NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA. 1326 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 ATGGTACCCAGAATGGCTTCC 0.542000 61 31 0 0 0.002096 0 0 GRID1 2894 broad.mit.edu 37 10 88123843 88123843 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:88123843G>A uc001kdl.1 - 1 191 c.90C>T c.(88-90)ttC>ttT p.F30F GRID1_uc009xsu.1_Non-coding_Transcript NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA. 30 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CGTTCTCCTCGAAGATGGCAC 0.597000 Multiple Myeloma(13;0.14) 25 13 0 0 0.002450 0 0 KCNF1 3754 broad.mit.edu 37 2 11053719 11053719 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:11053719C>T uc002rax.3 + 0 1657 c.1167C>T c.(1165-1167)atC>atT p.I389I NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN Homo sapiens potassium voltage-gated channel, subfamily F, member 1 (KCNF1), mRNA. 389 voltage-gated potassium channel complex voltage-gated potassium channel activity p.A388T(1) NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) ACGCGGCCATCAGCTTCTTGT 0.602000 34 14 0 0 0.002450 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190437 209190438 + Missense_Mutation DNP CC TT TT TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:209190437_209190438CC>TT uc002vcz.3 + 19 3060_3061 c.2902_2903CC>TT c.(2902-2904)cct>TTt p.P968F PIKFYVE_uc010fun.1_Missense_Mutation_p.P649F|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P912F NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA. 968 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GGCGGGTCTCCCTTGTGCTTTC 0.505000 51 28 0 0 0.004672 0 0 FAM120C 54954 broad.mit.edu 37 X 54185883 54185883 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:54185883G>A uc004dsz.4 - 1 949 c.866C>T c.(865-867)aCc>aTc p.T289I FAM120C_uc011moh.2_Missense_Mutation_p.T289I NM_017848 NP_060318 Q9NX05 F120C_HUMAN Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA. 289 breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GAACTGGTTGGTAGTGAGGTT 0.483000 28 16 0 0 0.004990 0 0 CHD9 80205 broad.mit.edu 37 16 53272403 53272403 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:53272403C>T uc002ehb.3 + 10 2946 c.2782C>T c.(2782-2784)Cgt>Tgt p.R928C CHD9_uc002egy.3_Missense_Mutation_p.R928C|CHD9_uc002ehc.3_Missense_Mutation_p.R928C|CHD9_uc002ehf.3_Missense_Mutation_p.R42C|CHD9_uc002ehg.2_Missense_Mutation_p.R42C|CHD9_uc002ehd.2_Missense_Mutation_p.R454C|CHD9_uc002ehe.1_Missense_Mutation_p.R42C NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA. 928 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding p.R928H(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GAGAGAATTTCGTACGTGGAC 0.403000 51 63 0 0 0.003610 0 0 CSMD3 114788 broad.mit.edu 37 8 113318268 113318268 + Nonsense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:113318268C>T uc003ynu.3 - 50 8198 c.8039G>A c.(8038-8040)tGg>tAg p.W2680* CSMD3_uc003yns.3_Nonsense_Mutation_p.W1882*|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W2640*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W2576* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2680 Sushi 15. integral to membrane|plasma membrane p.W2680C(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATGATTGCTCCATGTTCCATC 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 61 27 0 0 0.008361 0 0 ZNF160 90338 broad.mit.edu 37 19 53571746 53571746 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:53571746G>A uc010eqk.3 - 6 2457 c.2041C>T c.(2041-2043)Caa>Taa p.Q681* ZNF160_uc002qaq.4_Nonsense_Mutation_p.Q681*|ZNF160_uc002qar.4_Nonsense_Mutation_p.Q681* NM_001102603 NP_942596 Q9HCG1 ZN160_HUMAN Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA. 681 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) TTGCCACATTGATTACATTTG 0.433000 75 25 0 0 0.003330 0 0 UNC13C 440279 broad.mit.edu 37 15 54625970 54625970 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:54625970C>T uc021smr.1 + 13 4494 c.4494C>T c.(4492-4494)aaC>aaT p.N1498N UNC13C_uc021sms.1_Silent_p.N1500N|UNC13C_uc002acl.3_Silent_p.N330N NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA. 1500 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.R1498K(1) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) ACCAGGAAAACTTTCCTGCAA 0.338000 17 4 0 0 0.000248 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999128 46999128 + Missense_Mutation SNP G A A rs149580948 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:46999128G>A uc001jec.3 + 2 383 c.248G>A c.(247-249)cGa>cAa p.R83Q GPRIN2_uc021ppt.1_Missense_Mutation_p.R83Q NM_014696 NP_055511 O60269 GRIN2_HUMAN Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA. 83 p.R83P(2) breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CCCAAGGCGCGACCCAGTGCT 0.697000 35 6 0 0 0.001984 0 0 SLC1A2 6506 broad.mit.edu 37 11 35336577 35336577 + Missense_Mutation SNP T G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:35336577T>G uc001mwd.3 - 2 895 c.303A>C c.(301-303)ttA>ttC p.L101F SLC1A2_uc021qfx.1_Missense_Mutation_p.L92F|SLC1A2_uc001mwe.3_Missense_Mutation_p.L92F|SLC1A2_uc010rev.1_Missense_Mutation_p.L101F NM_004171 NP_001239581 P43004 EAA2_HUMAN Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA. 101 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) TACCTGTGATTAAGCTGGAGA 0.438000 66 27 0 0 0.007291 0 0 KIF2B 84643 broad.mit.edu 37 17 51900899 51900899 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:51900899G>A uc002iua.2 + 0 661 c.505G>A c.(505-507)Gag>Aag p.E169K KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 169 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCTGCAGCAGGAGATCCGAGC 0.547000 61 35 0 0 0.006230 0 0 PHTF1 10745 broad.mit.edu 37 1 114253057 114253057 + Missense_Mutation SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:114253057T>C uc009wgp.1 - 9 1540 c.1088A>G c.(1087-1089)aAc>aGc p.N363S PHTF1_uc001edn.3_Missense_Mutation_p.N363S|PHTF1_uc001edm.2_Missense_Mutation_p.N120S|PHTF1_uc001edo.1_Missense_Mutation_p.N120S NM_006608 NP_006599 Q9UMS5 PHTF1_HUMAN Homo sapiens putative homeodomain transcription factor 1 (PHTF1), mRNA. 363 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.N363K(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTGACATGTTGAGGCTTCG 0.453000 46 13 0 0 0.001855 0 0 PPFIA4 8497 broad.mit.edu 37 1 203024621 203024621 + Missense_Mutation SNP A G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:203024621A>G uc009xaj.3 + 20 2266 c.2266A>G c.(2266-2268)Acc>Gcc p.T756A PPFIA4_uc010pqf.2_Missense_Mutation_p.T338A|PPFIA4_uc001gyz.3_Missense_Mutation_p.T125A|PPFIA4_uc001gza.3_Missense_Mutation_p.T125A|PPFIA4_uc001gzb.1_5'Flank O75335 LIPA4_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA. 125 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GACGCGTGTAACCAGTGGCAG 0.617000 31 33 0 0 0.002445 0 0 LILRB4 11006 broad.mit.edu 37 19 55175661 55175661 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:55175661C>T uc002qgp.3 + 3 742 c.380C>T c.(379-381)tCa>tTa p.S127L LILRB4_uc002qgq.3_Missense_Mutation_p.S127L|LILRB4_uc010ers.1_Missense_Mutation_p.S40L|LILRB4_uc010ert.3_Missense_Mutation_p.S168L|LILRB4_uc010eru.3_Missense_Mutation_p.S156L NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 127 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) CCCACCCTTTCAGCCCTGCCG 0.582000 75 21 0 0 0.001523 0 0 PSG9 5678 broad.mit.edu 37 19 43762387 43762387 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:43762387C>T uc002owd.4 - 4 1309 c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K PSG9_uc002owe.4_Missense_Mutation_p.E311K|PSG9_uc010xwm.2_Missense_Mutation_p.E311K|PSG9_uc002owf.4_Missense_Mutation_p.E218K|PSG9_uc002owg.2_Missense_Mutation_p.E311K NM_002784 NP_002775 Q00887 PSG9_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA. 404 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTGGAGATTTCCTTGCCAGTG 0.448000 139 60 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13829655 13829655 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:13829655C>T uc003jfd.2 - 37 6450 c.6408G>A c.(6406-6408)acG>acA p.T2136T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2136 AAA 1 (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) GTTTGTAGAGCGTGAAAAACT 0.453000 Kartagener syndrome 48 24 0 0 0.006320 0 0 PCLO 27445 broad.mit.edu 37 7 82579037 82579037 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:82579037G>A uc003uhx.2 - 5 11156 c.10867C>T c.(10867-10869)Ctt>Ttt p.L3623F PCLO_uc003uhv.2_Missense_Mutation_p.L3623F|PCLO_uc010lec.3_Missense_Mutation_p.L588F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3554 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.V3622V(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGTGAGTAAAGGACTTTGGGG 0.478000 56 89 0 0 0.003610 0 0 LAMA3 3909 broad.mit.edu 37 18 21427530 21427530 + Missense_Mutation SNP T A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr18:21427530T>A uc002kuq.3 + 31 4120 c.4034T>A c.(4033-4035)tTc>tAc p.F1345Y LAMA3_uc002kur.3_Missense_Mutation_p.F1345Y NM_198129 NP_937762 Q16787 LAMA3_HUMAN Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA. 1345 Domain III B.|Laminin EGF-like 10. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.S1344S(1) NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACACACTCATTCAGCTTCCAC 0.657000 24 14 0 0 0.002450 0 0 USP48 84196 broad.mit.edu 37 1 22055084 22055084 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:22055084G>A uc010odq.2 - 10 1664 c.1426C>T c.(1426-1428)Caa>Taa p.Q476* USP48_uc001bfb.3_Nonsense_Mutation_p.Q477*|USP48_uc009vqc.3_Nonsense_Mutation_p.Q477*|USP48_uc001bfc.3_Nonsense_Mutation_p.Q477*|USP48_uc001bfe.1_Nonsense_Mutation_p.Q476*|USP48_uc001bff.3_Nonsense_Mutation_p.Q477* NM_032236 NP_115612 Q86UV5 UBP48_HUMAN Homo sapiens ubiquitin specific peptidase 48 (USP48), transcript variant 1, mRNA. 477 DUSP 1. ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) GGTAACCTTTGGTACAGCTCC 0.398000 80 31 0 0 0.005524 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092834 147092834 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:147092834C>T uc003weu.2 + 9 2148 c.1632C>T c.(1630-1632)ttC>ttT p.F544F MIR548I4_uc022aoo.1_Intron NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 544 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.F544L(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGGGAAGTTTCGCGAATGTCA 0.438000 HNSCC(39;0.1) 115 35 0 0 0.004289 0 0 BRSK2 9024 broad.mit.edu 37 11 1471065 1471065 + Splice_Site SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:1471065G>A uc001ltm.3 + 13 1678 c.1425_splice c.e13+1 p.R475_splice BRSK2_uc009ycv.1_Splice_Site_p.R451_splice|BRSK2_uc001lth.1_Splice_Site_p.R429_splice|BRSK2_uc001lti.3_Splice_Site_p.R429_splice|BRSK2_uc001ltl.3_Splice_Site_p.R429_splice|BRSK2_uc001ltj.3_Splice_Site_p.R429_splice|BRSK2_uc001ltk.3_Splice_Site|BRSK2_uc001ltn.3_Splice_Site|BRSK2_uc010qwx.2_Splice_Site|BRSK2_uc009ycw.3_5'Flank NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA. 429 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(1)|lung(5) 10 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) AGCAGCCCCCGGGTGAGTGAC 0.701000 40 11 0 0 0.008291 0 0 ZNF431 170959 broad.mit.edu 37 19 21365782 21365782 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:21365782C>T uc010ecr.2 + 4 826 c.679C>T c.(679-681)Cat>Tat p.H227Y ZNF431_uc002npp.2_Missense_Mutation_p.H226Y|ZNF431_uc010ecq.2_Missense_Mutation_p.H135Y NM_133473 NP_597730 Q8TF32 ZN431_HUMAN Homo sapiens zinc finger protein 431 (ZNF431), mRNA. 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 TAAAAGAATTCATATTAGAGA 0.333000 32 7 0 0 0.003080 0 0 PLEKHM1 9842 broad.mit.edu 37 17 43552888 43552888 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:43552888G>A uc002ija.3 - 3 671 c.501C>T c.(499-501)ttC>ttT p.F167F PLEKHM1_uc010wjm.2_Silent_p.F139F|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Silent_p.F116F|PLEKHM1_uc021tym.1_5'Flank NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA. 167 RUN. intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) GGCCCTGCAGGAAGCTAAGGA 0.607000 47 7 0 0 0.001984 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445936 29445936 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr22:29445936C>T uc003aeg.3 + 7 1767 c.1767C>T c.(1765-1767)tcC>tcT p.S589S ZNRF3_uc021wnq.1_Silent_p.S489S NM_001206998 NP_001193927 Q9ULT6 ZNRF3_HUMAN Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA. 589 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 TCCGCAGCTCCCTCAGCAGCG 0.672000 58 27 0 0 0.002096 0 0 QSOX1 5768 broad.mit.edu 37 1 180151450 180151450 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:180151450C>T uc001gnz.3 + 5 823 c.748C>T c.(748-750)Ccc>Tcc p.P250S QSOX1_uc001gny.3_Missense_Mutation_p.P250S|QSOX1_uc001gob.1_Non-coding_Transcript NM_002826 NP_002817 O00391 QSOX1_HUMAN Homo sapiens quiescin Q6 sulfhydryl oxidase 1 (QSOX1), transcript variant 1, mRNA. 250 cell redox homeostasis|protein thiol-disulfide exchange extracellular space|integral to Golgi membrane flavin-linked sulfhydryl oxidase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 CTCCCGAGTCCCCGTGTGAGT 0.597000 103 33 0 0 0.005524 0 0 IFNG 3458 broad.mit.edu 37 12 68551791 68551791 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:68551791G>A uc001stw.1 - 2 394 c.268C>T c.(268-270)Caa>Taa p.Q90* NM_000619 NP_000610 P01579 IFNG_HUMAN Homo sapiens interferon, gamma (IFNG), mRNA. 90 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) ACACTCTTTTGGATGCTCTGG 0.363000 60 37 0 0 0.003271 0 0 AKT2 208 broad.mit.edu 37 19 40747872 40747872 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:40747872G>A uc002onf.3 - 5 845 c.546C>T c.(544-546)atC>atT p.I182I AKT2_uc010egs.3_Silent_p.I182I|AKT2_uc010xvj.2_Silent_p.I120I|AKT2_uc010egt.3_Silent_p.I120I|AKT2_uc010egu.2_Silent_p.I120I|AKT2_uc010xvk.1_Silent_p.I182I|AKT2_uc002one.3_Silent_p.I78I NM_001626 NP_001229957 P31751 AKT2_HUMAN Homo sapiens v-akt murine thymoma viral oncogene homolog 2 (AKT2), transcript variant 1, mRNA. 182 Protein kinase. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) CCTTCCGCAGGATCTTCATGG 0.592000 A """ovarian, pancreatic """ 161 62 0 0 0.003610 0 0 CDH9 1007 broad.mit.edu 37 5 26881619 26881619 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:26881619C>T uc003jgs.1 - 11 2165 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K CDH9_uc011cnv.1_Missense_Mutation_p.E259K NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA. 666 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G665W(1) breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GTATCTTCTTCCCCGCCGCCT 0.428000 128 49 0 0 0.003610 0 0 SEC14L3 266629 broad.mit.edu 37 22 30866041 30866041 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr22:30866041C>T uc003ahy.3 - 3 288 c.199G>A c.(199-201)Gat>Aat p.D67N SEC14L3_uc003ahz.3_5'UTR|SEC14L3_uc003aia.3_Missense_Mutation_p.D8N|SEC14L3_uc003aib.3_Missense_Mutation_p.D8N NM_174975 NP_777635 Q9UDX4 S14L3_HUMAN Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA. 67 integral to membrane|intracellular lipid binding|transporter activity p.D67V(1) 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) TGGTCAATATCCATGGTCTTC 0.547000 85 35 0 0 0.005524 0 0 OR2V2 285659 broad.mit.edu 37 5 180582804 180582804 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:180582804C>T uc011dhj.2 + 0 862 c.862C>T c.(862-864)Ccc>Tcc p.P288S NM_206880 NP_996763 Q96R30 OR2V2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CATGCTCAACCCCCTCATTTA 0.602000 29 15 0 0 0.003163 0 0 RIBC1 158787 broad.mit.edu 37 X 53455528 53455528 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:53455528G>A uc004dsk.3 + 4 701 c.497G>A c.(496-498)aGg>aAg p.R166K RIBC1_uc004dsj.1_Missense_Mutation_p.R166K|RIBC1_uc011mog.1_Intron NM_001031745 NP_001026915 Q8N443 RIBC1_HUMAN Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA. 166 lung(2) 2 AACTTGGAAAGGCAACAGCAG 0.552000 9 10 0 0 0.006214 0 0 PNMA3 29944 broad.mit.edu 37 X 152225782 152225782 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:152225782C>T uc022cho.1 + 0 370 c.370C>T c.(370-372)Ctc>Ttc p.L124F PNMA3_uc004fhc.2_Missense_Mutation_p.L124F|PNMA3_uc004fhd.3_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA. 124 apoptosis nucleolus nucleic acid binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2) 16 Acute lymphoblastic leukemia(192;6.56e-05) gaaccgagtcctcgggtcgga 0.537000 15 12 0 0 0.001368 0 0 OLFML1 283298 broad.mit.edu 37 11 7530941 7530941 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:7530941G>A uc001mfi.3 + 2 1238 c.731G>A c.(730-732)aGg>aAg p.R244K OLFML1_uc010raz.2_Missense_Mutation_p.R108K|OLFML1_uc010rba.2_Missense_Mutation_p.R244K NM_198474 NP_940876 Q6UWY5 OLFL1_HUMAN Homo sapiens olfactomedin-like 1 (OLFML1), mRNA. 244 Olfactomedin-like. extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2) 24 Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CTGCAGAAGAGGACTGTGGAA 0.463000 33 14 0 0 0.003163 0 0 PSMD4 5710 broad.mit.edu 37 1 151237936 151237936 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:151237936C>T uc001exl.3 + 5 567 c.505C>T c.(505-507)Cat>Tat p.H169Y NM_002810 NP_002801 P55036 PSMD4_HUMAN Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA. 169 VWFA. DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) AACCGGTTCTCATCTGGTGAC 0.522000 69 35 0 0 0.004878 0 0 GALNTL5 168391 broad.mit.edu 37 7 151684324 151684324 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:151684324G>A uc003wkp.3 + 4 886 c.616G>A c.(616-618)Ggg>Agg p.G206R GALNTL5_uc010lqf.3_Missense_Mutation_p.G95R|GALNTL5_uc003wkq.3_Intron|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA. 206 Catalytic subdomain A. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups p.G206fs*25(2) NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) AAAGAGAGAGGGGCTGATTCG 0.428000 80 8 0 0 0.004482 0 0 CORO1C 23603 broad.mit.edu 37 12 109052620 109052620 + Missense_Mutation SNP T A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:109052620T>A uc009zva.3 - 4 732 c.683A>T c.(682-684)gAc>gTc p.D228V CORO1C_uc001tnj.3_Missense_Mutation_p.D175V|CORO1C_uc010sxf.2_Missense_Mutation_p.D138V NM_014325 NP_055140 Q9ULV4 COR1C_HUMAN Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA. 175 actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 GTAAATCATGTCTGAATGCAT 0.433000 53 45 0 0 0.002222 0 0 TLL1 7092 broad.mit.edu 37 4 167020467 167020467 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:167020467G>A uc003irh.2 + 19 3342 c.2695G>A c.(2695-2697)Gat>Aat p.D899N TLL1_uc011cjn.2_Missense_Mutation_p.D922N|TLL1_uc011cjo.2_Missense_Mutation_p.D723N NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 899 CUB 5. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AAAACCAAGAGATCTGTACTC 0.423000 70 23 0 0 0.002780 0 0 SLC9A3 6550 broad.mit.edu 37 5 476469 476469 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:476469C>T uc003jbe.2 - 12 2027 c.1915G>A c.(1915-1917)Gag>Aag p.E639K SLC9A3_uc011clx.1_Missense_Mutation_p.E630K|BC013821_uc011cly.2_5'Flank NM_004174 NP_004165 P48764 SL9A3_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA. 639 Interaction with PDZD3 (By similarity). cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGCGTGAGCTCGTGTCGGCTG 0.622000 56 16 0 0 0.006122 0 0 MOSPD3 64598 broad.mit.edu 37 7 100210447 100210448 + Missense_Mutation DNP GG AA AA TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:100210447_100210448GG>AA uc003uvq.3 + 1 235_236 c.33_34GG>AA c.(31-36)ctggtg>ctAAtg p.V12M MOSPD3_uc003uvr.3_Missense_Mutation_p.V12M|MOSPD3_uc003uvs.3_Missense_Mutation_p.V12M|MOSPD3_uc003uvt.3_Missense_Mutation_p.V12M NM_001040097 NP_076438 O75425 MSPD3_HUMAN Homo sapiens motile sperm domain containing 3 (MOSPD3), transcript variant 2, mRNA. 12 integral to membrane structural molecule activity breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 16 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ACCAGGAGCTGGTGGGTccggg 0.728000 21 11 0 0 0.004672 0 0 CD1C 911 broad.mit.edu 37 1 158262023 158262023 + Nonsense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:158262023C>T uc001fru.3 + 2 770 c.478C>T c.(478-480)Caa>Taa p.Q160* CD1C_uc021pbl.1_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN Homo sapiens CD1c molecule (CD1C), mRNA. 160 T cell activation involved in immune response|antigen processing and presentation endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) AAGTTTGGCCCAAAGTGTCTG 0.458000 208 71 0 0 0.003610 0 0 SNAI2 6591 broad.mit.edu 37 8 49831426 49831426 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:49831426G>A uc003xqp.3 - 2 922 c.747C>T c.(745-747)acC>acT p.T249T NM_003068 NP_003059 O43623 SNAI2_HUMAN Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA. 249 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TTCTGGAGAAGGTTTTGGAGC 0.448000 105 27 0 0 0.008361 0 0 LRP1B 53353 broad.mit.edu 37 2 141079558 141079558 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:141079558C>T uc002tvj.1 - 81 13586 c.12614G>A c.(12613-12615)gGc>gAc p.G4205D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4205 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) ATTGCAGGTGCCATTAATCAA 0.378000 TSP Lung(27;0.18) 78 23 0 0 0.003954 0 0 BIN2 51411 broad.mit.edu 37 12 51696549 51696549 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:51696549G>A uc001ryg.3 - 3 285 c.233C>T c.(232-234)tCa>tTa p.S78L BIN2_uc009zlz.3_Missense_Mutation_p.S78L|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Missense_Mutation_p.S52L NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN Homo sapiens bridging integrator 2 (BIN2), mRNA. 78 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CACTCTTTTTGAACTTTCATG 0.468000 55 80 0 0 0.003610 0 0 GEM 2669 broad.mit.edu 37 8 95262690 95262690 + Missense_Mutation SNP C T T rs141202489 byFrequency TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:95262690C>T uc003ygi.3 - 4 863 c.739G>A c.(739-741)Gag>Aag p.E247K GEM_uc003ygj.3_Missense_Mutation_p.E247K NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 247 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) TCATTCTTCTCCTTGCTGTCC 0.562000 31 8 0 0 0.006214 0 0 STARD8 9754 broad.mit.edu 37 X 67938118 67938118 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:67938118C>T uc004dxb.3 + 5 1576 c.1362C>T c.(1360-1362)gcC>gcT p.A454A STARD8_uc004dxa.3_Silent_p.A374A|STARD8_uc004dxc.4_Silent_p.A374A NM_001142503 NP_055540 Q92502 STAR8_HUMAN Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA. 374 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 AGTCCCCAGCCTGGGCCCAGG 0.627000 8 7 0 0 0.003080 0 0 FAM75A6 389730 broad.mit.edu 37 9 43627091 43627091 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:43627091G>A uc011lrb.2 - 3 1625 c.1596C>T c.(1594-1596)tcC>tcT p.S532S NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA. 532 integral to membrane breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1) 54 TTTCAGGTAGGGAGAGAGCTT 0.468000 431 168 0 0 0.003610 0 0 FRG1B 284802 broad.mit.edu 37 20 29628245 29628245 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:29628245G>A uc010ztl.1 + 2 189 c.157G>A c.(157-159)Gcc>Acc p.A53T FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.A5T Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.A83T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GGCTTTGTTGGCCTCAAATAG 0.353000 66 4 0 0 0.000602 0 0 ALS2CL 259173 broad.mit.edu 37 3 46723548 46723548 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:46723548C>T uc003cqa.2 - 10 1339 c.1146G>A c.(1144-1146)gtG>gtA p.V382V ALS2CL_uc003cpz.2_5'Flank|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.V382V NM_001190707 NP_667340 Q60I27 AL2CL_HUMAN Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA. 382 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) AGAAATTCCCCACGTGATTCC 0.627000 20 7 0 0 0.001984 0 0 RETNLB 84666 broad.mit.edu 37 3 108475928 108475928 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:108475928G>A uc003dxh.2 - 0 203 c.105C>T c.(103-105)atC>atT p.I35I NM_032579 NP_115968 Q9BQ08 RETNB_HUMAN Homo sapiens resistin like beta (RETNLB), mRNA. 35 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 GAACATCCTTGATCTTCTTAT 0.502000 16 11 0 0 0.000978 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129870331 129870331 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:129870331G>A uc004bqr.1 - 1 1180 c.680C>T c.(679-681)cCa>cTa p.P227L RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Intron NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA. 227 multicellular organismal development|signal transduction extracellular space receptor binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1) 18 GTAGGTGGGTGGTTGGTAGAC 0.642000 30 21 0 0 0.001882 0 0 BID 637 broad.mit.edu 37 22 18220990 18220990 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr22:18220990C>T uc002znd.2 - 4 542 c.369G>A c.(367-369)cgG>cgA p.R123R BID_uc002znc.2_Silent_p.R169R|BID_uc021wko.1_Silent_p.R27R|BID_uc002zne.2_Silent_p.R27R|BID_uc021wkp.1_Silent_p.R27R|BID_uc002znf.2_Silent_p.R27R|BID_uc010gra.2_Non-coding_Transcript|BID_uc010grc.1_Silent_p.R27R|BID_uc010grb.1_Silent_p.R123R NM_001196 NP_001187 P55957 BID_HUMAN Homo sapiens BH3 interacting domain death agonist (BID), transcript variant 2, mRNA. 123 activation of pro-apoptotic gene products|establishment of protein localization in membrane|induction of apoptosis by intracellular signals|induction of apoptosis via death domain receptors|neuron apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria|release of cytochrome c from mitochondria cytosol|membrane fraction|mitochondrial outer membrane death receptor binding large_intestine(2)|ovary(1) 3 all_epithelial(15;0.198) Lung(27;0.0419) GGTCCCTGTTCCGGTCCTGCA 0.552000 19 13 0 0 0.001855 0 0 FRG1B 284802 broad.mit.edu 37 20 29628243 29628243 + Missense_Mutation SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:29628243T>C uc010ztl.1 + 2 187 c.155T>C c.(154-156)tTg>tCg p.L52S FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Missense_Mutation_p.L4S Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.L82S(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGGCTTTGTTGGCCTCAAAT 0.363000 67 4 0 0 0.000602 0 0 PATL1 219988 broad.mit.edu 37 11 59410478 59410478 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:59410478G>A uc001noe.4 - 15 2067 c.1924C>T c.(1924-1926)Ctc>Ttc p.L642F PATL1_uc009yms.1_Missense_Mutation_p.L612F NM_152716 NP_689929 Q86TB9 PATL1_HUMAN Homo sapiens protein associated with topoisomerase II homolog 1 (yeast) (PATL1), mRNA. 642 Region C. cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA cytoplasmic mRNA processing body RNA binding|protein binding central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2) 11 TAGAGAAGGAGAGAGAAGGGA 0.473000 50 28 0 0 0.004656 0 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:61161357T>G uc021qkf.1 + 3 409 c.137_splice c.e3-1 p.G46_splice TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site NM_001173991 NP_001167462 Q9P0N5 TM216_HUMAN Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA. 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 46 14 0 0 0.004990 0 0 NAV2 89797 broad.mit.edu 37 11 20127234 20127234 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:20127234C>T uc010rdm.2 + 36 7331 c.6970C>T c.(6970-6972)Cgc>Tgc p.R2324C NAV2_uc001mpp.3_Missense_Mutation_p.R2204C|NAV2_uc001mpr.4_Missense_Mutation_p.R2268C|NAV2_uc021qew.1_Missense_Mutation_p.R2271C|NAV2_uc009yhx.3_Missense_Mutation_p.R1332C|NAV2_uc009yhz.3_Missense_Mutation_p.R913C|NAV2_uc001mpu.3_Missense_Mutation_p.R706C|NAV2_uc001mpv.3_Missense_Mutation_p.R30C NM_001244963 NP_001231892 Q8IVL1 NAV2_HUMAN Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA. 2327 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCACCTCAACCGCTTCCTGGA 0.597000 43 15 0 0 0.004990 0 0 PCM1 5108 broad.mit.edu 37 8 17863888 17863888 + Silent SNP A G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:17863888A>G uc022asj.1 + 28 5083 c.5061A>G c.(5059-5061)caA>caG p.Q1687Q PCM1_uc003wyi.4_Silent_p.Q1648Q|PCM1_uc011kyh.2_Silent_p.Q1640Q|PCM1_uc003wyj.4_Silent_p.Q1594Q|PCM1_uc011kyi.2_Silent_p.Q447Q|PCM1_uc011kyj.2_Silent_p.Q404Q|PCM1_uc003wyk.4_Silent_p.Q330Q|PCM1_uc011kyk.2_Silent_p.Q264Q NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1648 Interaction with HAP1. G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) TTCATAAACAACTTGGAAGTA 0.388000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 45 10 0 0 0.000978 0 0 PRG4 10216 broad.mit.edu 37 1 186276100 186276100 + Missense_Mutation SNP A C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:186276100A>C uc001gru.4 + 6 1300 c.1249A>C c.(1249-1251)Acc>Ccc p.T417P MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T376P|PRG4_uc009wyl.3_Missense_Mutation_p.T324P|PRG4_uc009wym.3_Missense_Mutation_p.T283P|PRG4_uc010poo.2_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 417 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T417P(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.652000 51 4 0 0 0.000978 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956224 18956224 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:18956224G>A uc001mpg.3 - 0 326 c.108C>T c.(106-108)atC>atT p.I36I NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 36 I -> V (in dbSNP:rs11024885). acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CAAGGGAAACGATGCACGTCA 0.557000 207 35 0 0 0.004878 0 0 SELPLG 6404 broad.mit.edu 37 12 109016855 109016856 + Missense_Mutation DNP AA GG GG TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:109016855_109016856AA>GG uc010sxe.2 - 1 1453_1454 c.1276_1277TT>CC c.(1276-1278)ttc>CCc p.F426P SELPLG_uc001tni.3_Missense_Mutation_p.F410P|SELPLG_uc021rdm.1_Missense_Mutation_p.F400P|SELPLG_uc001tnh.3_Missense_Mutation_p.F400P NM_001206609 NP_001193538 Q14242 SELPL_HUMAN Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA. 410 blood coagulation|cellular response to interleukin-6 integral to plasma membrane|membrane fraction bacterial cell surface binding|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1) 12 CTAAGGGAGGAAGCTGTGCAGG 0.653000 13 5 0 0 0.004672 0 0 MYOF 26509 broad.mit.edu 37 10 95070382 95070382 + Missense_Mutation SNP A T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:95070382A>T uc001kin.3 - 51 6031 c.5908T>A c.(5908-5910)Ttg>Atg p.L1970M MYOF_uc001kio.3_Missense_Mutation_p.L1957M|MYOF_uc009xue.3_Non-coding_Transcript NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA. 1970 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 AGGATTTCCAATGTCATCTCC 0.498000 50 22 0 0 0.003954 0 0 FOXRED1 55572 broad.mit.edu 37 11 126146989 126146989 + Missense_Mutation SNP C G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:126146989C>G uc001qdi.3 + 9 1292 c.1125C>G c.(1123-1125)aaC>aaG p.N375K FOXRED1_uc010sbn.2_Missense_Mutation_p.N205K|FOXRED1_uc010sbq.2_Missense_Mutation_p.N242K|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_Missense_Mutation_p.N188K|FOXRED1_uc010sbr.2_Missense_Mutation_p.N361K|FOXRED1_uc001qdk.3_Missense_Mutation_p.N164K NM_017547 NP_060017 Q96CU9 FXRD1_HUMAN Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 375 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) ACCCGGCGAACCTGGAAGTGG 0.557000 32 7 0 0 0.003080 0 0 GLIS3 169792 broad.mit.edu 37 9 3937029 3937029 + Splice_Site SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:3937029G>A uc003zhx.1 - 5 2585 c.1872_splice c.e5+1 p.T624_splice GLIS3_uc010mhf.1_Splice_Site|GLIS3_uc003zhv.1_Splice_Site|GLIS3_uc003zhw.1_Splice_Site_p.T469_splice|GLIS3_uc003zhy.1_Splice_Site_p.T402_splice|GLIS3_uc003zhz.1_Splice_Site_p.T402_splice NM_001042413 NP_001035878 Q8NEA6 GLIS3_HUMAN Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA. 469 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) CATTCTTACGGTGTCCAGATG 0.557000 46 26 0 0 0.007291 0 0 CLPB 81570 broad.mit.edu 37 11 72005078 72005078 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:72005078G>A uc001osj.3 - 15 1913 c.1863C>T c.(1861-1863)tcC>tcT p.S621S CLPB_uc010rqx.2_Silent_p.S576S|CLPB_uc010rqy.2_Silent_p.S562S|CLPB_uc001osk.3_Silent_p.S591S|CLPB_uc010rqz.2_Silent_p.S420S|CLPB_uc001osi.3_Silent_p.S229S NM_030813 NP_110440 Q9H078 CLPB_HUMAN Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA. 621 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 CATGTTTGATGGAGCGGGCGC 0.622000 242 86 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346714 140346714 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:140346714G>A uc003lii.3 + 0 968 c.363G>A c.(361-363)ttG>ttA p.L121L 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_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L121L NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 121 Cadherin 1. 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) TGCTCAGCTTGGAAGTGCTGG 0.627000 33 17 0 0 0.008871 0 0 CCDC9 26093 broad.mit.edu 37 19 47763860 47763860 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:47763860C>T uc010xym.2 + 4 433 c.226C>T c.(226-228)Cct>Tct p.P76S NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA. 76 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GAACCTGGGTCCTTCCCGGAG 0.687000 49 23 0 0 0.003954 0 0 PNKP 11284 broad.mit.edu 37 19 50367223 50367223 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:50367223G>A uc002pqj.3 - 6 852 c.742C>T c.(742-744)Cag>Tag p.Q248* PNKP_uc002pqg.3_Nonsense_Mutation_p.Q29*|PNKP_uc002pqi.3_Nonsense_Mutation_p.Q209*|PNKP_uc021uxx.1_Nonsense_Mutation_p.Q248* NM_007254 NP_009185 Q96T60 PNKP_HUMAN Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA. 248 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) AGCCATACCTGGAAGGGGACC 0.632000 Other BER factors 18 9 0 0 0.008291 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140236221 140236221 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:140236221G>A uc003lhx.2 + 0 588 c.588G>A c.(586-588)cgG>cgA p.R196R 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_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.R196R|PCDHAC2_uc011dad.2_Silent_p.R196R NM_018901 NP_061724 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA. 212 Cadherin 2. 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) TTGTTCTGCGGAAGCTGCTGG 0.398000 61 25 0 0 0.003954 0 0 MAP3K4 4216 broad.mit.edu 37 6 161469968 161469968 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr6:161469968C>T uc003qtn.3 + 2 806 c.664C>T c.(664-666)Cgt>Tgt p.R222C MAP3K4_uc010kkc.1_Missense_Mutation_p.R222C|MAP3K4_uc003qto.3_Missense_Mutation_p.R222C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 222 JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.R222C(3) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TCCAGCAGATCGTTTAAAGTT 0.448000 14 4 0 0 0.000248 0 0 NUP188 23511 broad.mit.edu 37 9 131761556 131761556 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:131761556C>T uc004bws.1 + 32 3643 c.3621C>T c.(3619-3621)ttC>ttT p.F1207F NUP188_uc004bwu.3_Silent_p.F550F NM_015354 NP_056169 Q5SRE5 NU188_HUMAN Homo sapiens nucleoporin 188kDa (NUP188), mRNA. 1207 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 CCAAGGTGTTCTCAGCATTCA 0.562000 OREG0003925 type=REGULATORY REGION|Gene=AK025292|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 43 18 0 0 0.007413 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870436 51870436 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:51870436C>T uc002xwo.3 + 1 1326 c.439C>T c.(439-441)Ctg>Ttg p.L147L TSHZ2_uc021wex.1_Silent_p.L144L NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 147 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 84 STAD - Stomach adenocarcinoma(23;0.1) TGGCTTCAAGCTGTCCAATAG 0.512000 66 26 0 0 0.005443 0 0 SLC17A6 57084 broad.mit.edu 37 11 22360116 22360116 + Nonsense_Mutation SNP A T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:22360116A>T uc001mqk.3 + 0 450 c.37A>T c.(37-39)Aaa>Taa p.K13* NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 13 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 GGCCCCAGGAAAAGAGGGGCT 0.433000 34 9 0 0 0.006214 0 0 CDHR4 389118 broad.mit.edu 37 3 49836714 49836714 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:49836714C>T uc010hkz.3 - 1 215 c.206G>A c.(205-207)aGc>aAc p.S69N CDHR4_uc003cxp.2_Missense_Mutation_p.S69N|CDHR4_uc011bcw.2_Missense_Mutation_p.S69N NM_001007540 NP_001007541 A6H8M9 CDHR4_HUMAN Homo sapiens cadherin-related family member 4 (CDHR4), mRNA. 69 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 CCTGGCCAAGCTGGGTGGGTT 0.567000 18 9 0 0 0.008291 0 0 UBLCP1 134510 broad.mit.edu 37 5 158710336 158710336 + Missense_Mutation SNP A T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:158710336A>T uc003lxq.2 + 9 1244 c.918A>T c.(916-918)aaA>aaT p.K306N NM_145049 NP_659486 Q8WVY7 UBCP1_HUMAN Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA. 306 nucleus phosphoprotein phosphatase activity endometrium(1)|kidney(3)|large_intestine(4)|ovary(1) 9 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAAATCACAAATATTGGGAAA 0.289000 84 20 0 0 0.002780 0 0 PCDH12 51294 broad.mit.edu 37 5 141335520 141335520 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:141335520C>T uc003llx.3 - 0 3108 c.1897G>A c.(1897-1899)Gag>Aag p.E633K NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN Homo sapiens protocadherin 12 (PCDH12), mRNA. 633 Cadherin 6. neuron recognition integral to plasma membrane calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1) 38 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGAGGGGCTCTCCATTTGCC 0.577000 33 14 0 0 0.001855 0 0 AGAP11 119385 broad.mit.edu 37 10 88768401 88768401 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:88768401G>A uc001kee.2 + 11 1596 c.392G>A c.(391-393)cGa>cAa p.R131Q AGAP11_uc001kef.3_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA. 131 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding CTCTTAAAGCGAAGTGGGAAA 0.488000 143 70 0 0 0.003610 0 0 VPS13D 55187 broad.mit.edu 37 1 12343341 12343341 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:12343341C>T uc001atv.3 + 20 5323 c.5182C>T c.(5182-5184)Cac>Tac p.H1728Y VPS13D_uc001atw.3_Missense_Mutation_p.H1728Y|VPS13D_uc001atx.3_Missense_Mutation_p.H916Y NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 1728 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCTCCCTTCCCACATGGAAGA 0.478000 51 18 0 0 0.007413 0 0 ITGB4 3691 broad.mit.edu 37 17 73739891 73739891 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:73739891G>A uc002jpg.3 + 25 3247 c.3060G>A c.(3058-3060)ggG>ggA p.G1020G ITGB4_uc002jph.3_Silent_p.G1020G|ITGB4_uc002jpi.4_Silent_p.G1020G|ITGB4_uc002jpj.3_Silent_p.G1020G NM_000213 NP_000204 P16144 ITB4_HUMAN Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA. 1020 Calx-beta. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TGGACGGCGGGAAGTCCCAGG 0.701000 20 6 0 0 0.001168 0 0 CCDC37 348807 broad.mit.edu 37 3 126142215 126142215 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:126142215G>A uc010hsg.1 + 10 1192 c.1133G>A c.(1132-1134)gGg>gAg p.G378E CCDC37_uc003eiu.1_Missense_Mutation_p.G377E NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 377 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) GACAGCGATGGGGAGGTGAAT 0.657000 22 7 0 0 0.006214 0 0 RIN3 79890 broad.mit.edu 37 14 93154411 93154411 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr14:93154411C>T uc001yap.3 + 9 2924 c.2772C>T c.(2770-2772)ttC>ttT p.F924F RIN3_uc010auk.3_Silent_p.F586F|RIN3_uc001yaq.3_Silent_p.F849F NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA. 924 Ras-associating. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) ACCGGCTGTTCGTGCTGGTGG 0.731000 13 8 0 0 0.006214 0 0 EVC2 132884 broad.mit.edu 37 4 5624385 5624386 + Missense_Mutation DNP CC TT TT TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:5624385_5624386CC>TT uc003gij.3 - 13 2433_2434 c.2379_2380GG>AA c.(2377-2382)ggggag>ggAAag p.E794K EVC2_uc003gik.3_Missense_Mutation_p.E714K|EVC2_uc011bwb.2_Missense_Mutation_p.E234K NM_147127 NP_667338 Q86UK5 LBN_HUMAN Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA. 794 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 TCCCTCTCCTCCCCCTCCAGCT 0.663000 21 10 0 0 0.004672 0 0 RPTN 126638 broad.mit.edu 37 1 152128685 152128685 + Missense_Mutation SNP T C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:152128685T>C uc001ezs.1 - 2 955 c.890A>G c.(889-891)cAg>cGg p.Q297R NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN Homo sapiens repetin (RPTN), mRNA. 297 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 TCTGTCCGTCTGACCGTAGTG 0.512000 423 113 0 0 0.003610 0 0 RRN3 54700 broad.mit.edu 37 16 15166902 15166902 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr16:15166902G>A uc002dde.3 - 11 1101 c.1033C>T c.(1033-1035)Cgc>Tgc p.R345C PDXDC1_uc002ddc.3_Intron|RRN3_uc010uzp.2_Missense_Mutation_p.R213C|RRN3_uc010uzq.2_Missense_Mutation_p.R315C NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN Homo sapiens RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) (RRN3), mRNA. 345 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 ATCAGGTCGCGATATAGATCC 0.383000 31 32 0 0 0.006230 0 0 TMEM8C 389827 broad.mit.edu 37 9 136389886 136389886 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:136389886C>T uc011mdk.2 - 0 183 c.81G>A c.(79-81)aaG>aaA p.K27K NM_001080483 NP_001073952 A6NI61 TMM8C_HUMAN Homo sapiens transmembrane protein 8C (TMEM8C), mRNA. 27 integral to membrane NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4) 8 GGAACCGCCTCTTGGCCGCGA 0.652000 47 15 0 0 0.003163 0 0 GPR152 390212 broad.mit.edu 37 11 67219374 67219374 + Nonsense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:67219374C>T uc001olm.3 - 0 827 c.822G>A c.(820-822)tgG>tgA p.W274* CABP4_uc009yrw.1_5'Flank|CABP4_uc001oln.3_5'Flank NM_206997 NP_996880 Q8TDT2 GP152_HUMAN Homo sapiens G protein-coupled receptor 152 (GPR152), mRNA. 274 integral to membrane|plasma membrane G-protein coupled receptor activity p.W274L(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) CCAGGGCCTCCCAGAGCAGGT 0.627000 30 11 0 0 0.000978 0 0 TRIM42 287015 broad.mit.edu 37 3 140407233 140407233 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:140407233G>A uc003eto.2 + 2 1915 c.1709G>A c.(1708-1710)gGc>gAc p.G570D NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN Homo sapiens tripartite motif containing 42 (TRIM42), mRNA. 570 intracellular zinc ion binding p.D569D(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCCACAGACGGCCTCTACACC 0.572000 56 19 0 0 0.008871 0 0 KIDINS220 57498 broad.mit.edu 37 2 8871350 8871350 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:8871350C>T uc002qzc.2 - 29 4998 c.4816G>A c.(4816-4818)Gac>Aac p.D1606N KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.D1507N|KIDINS220_uc002qzb.2_Missense_Mutation_p.D460N NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA. 1606 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) AGCTGGGAGTCATCCGCCACT 0.488000 34 9 0 0 0.004482 0 0 RP1 6101 broad.mit.edu 37 8 55533670 55533670 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:55533670C>T uc003xsd.1 + 1 292 c.144C>T c.(142-144)ttC>ttT p.F48F RP1_uc011ldy.1_Silent_p.F48F NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 48 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.F48F(4) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCCCCAATTCGGCGGGGTCA 0.552000 35 25 0 0 0.004656 0 0 CD22 933 broad.mit.edu 37 19 35827096 35827096 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:35827096G>A uc010edt.3 + 3 654 c.570G>A c.(568-570)tcG>tcA p.S190S CD22_uc010edu.3_Silent_p.S190S|CD22_uc010edv.3_Silent_p.S190S|CD22_uc002nzb.4_Silent_p.S190S|CD22_uc010xst.2_Silent_p.S18S|CD22_uc010edx.3_5'Flank NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 190 Ig-like C2-type 1. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CTGTCACCTCGACCTCCTTGA 0.547000 46 24 0 0 0.002299 0 0 HCN3 57657 broad.mit.edu 37 1 155255737 155255737 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:155255737G>A uc001fjz.1 + 5 1467 c.1459G>A c.(1459-1461)Gat>Aat p.D487N HCN3_uc010pfz.1_Missense_Mutation_p.D182N NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA. 487 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACGCCTCACCGATGGATCCTA 0.657000 105 68 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13753555 13753555 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:13753555C>T uc003jfd.2 - 62 10701 c.10659G>A c.(10657-10659)cgG>cgA p.R3553R DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3553 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R3553W(1) 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) ATGGAATTTTCCGGGCTTTCA 0.398000 Kartagener syndrome 97 38 0 0 0.006230 0 0 FAM114A1 92689 broad.mit.edu 37 4 38933073 38933073 + Splice_Site SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:38933073C>T uc003gtn.3 + 11 1421 c.1162_splice c.e11-1 p.A388_splice FAM114A1_uc011byh.2_Splice_Site_p.A181_splice|FAM114A1_uc010ifi.3_Splice_Site_p.A46_splice NM_138389 NP_612398 Q8IWE2 NXP20_HUMAN Homo sapiens family with sequence similarity 114, member A1 (FAM114A1), transcript variant 1, mRNA. 388 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCTCTGCAGGCCATGAAGAGG 0.453000 35 14 0 0 0.003163 0 0 BAZ2B 29994 broad.mit.edu 37 2 160284896 160284896 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:160284896C>T uc002uao.3 - 11 2695 c.2290G>A c.(2290-2292)Ggg>Agg p.G764R BAZ2B_uc002uap.3_Missense_Mutation_p.G762R|BAZ2B_uc002uaq.1_Missense_Mutation_p.G594R|BAZ2B_uc002uar.1_Missense_Mutation_p.G337R NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 764 MBD. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TGAAGGCGCCCTCCAAAGTTT 0.343000 111 19 0 0 0.001882 0 0 DENND3 22898 broad.mit.edu 37 8 142188277 142188277 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:142188277G>A uc003yvy.3 + 15 2856 c.2578G>A c.(2578-2580)Gat>Aat p.D860N DENND3_uc010mep.3_Missense_Mutation_p.D821N NM_014957 NP_055772 A2RUS2 DEND3_HUMAN Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA. 860 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) ATCCTACTTTGATAAGATGAG 0.493000 41 11 0 0 0.000978 0 0 MTMR10 54893 broad.mit.edu 37 15 31239448 31239448 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:31239448G>A uc001zfh.1 - 13 1531 c.1433C>T c.(1432-1434)cCt>cTt p.P478L MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Missense_Mutation_p.P59L|MTMR10_uc010azx.1_Missense_Mutation_p.P230L|MTMR10_uc001zfi.1_Missense_Mutation_p.P230L|MTMR10_uc001zfj.3_Missense_Mutation_p.P396L NM_017762 NP_060232 Q9NXD2 MTMRA_HUMAN Homo sapiens myotubularin related protein 10 (MTMR10), mRNA. 478 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) AAAAGCTGCAGGATATTGTTC 0.458000 41 15 0 0 0.002450 0 0 SLC27A2 11001 broad.mit.edu 37 15 50474656 50474656 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:50474656G>A uc001zxw.3 + 0 264 c.32G>A c.(31-33)gGa>gAa p.G11E SLC27A2_uc010bes.3_Missense_Mutation_p.G11E NM_003645 NP_003636 O14975 S27A2_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA. 11 bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GTCCTGGCGGGACTGCTGTTC 0.667000 16 5 0 0 0.000602 0 0 SPINK5 11005 broad.mit.edu 37 5 147495967 147495967 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:147495967G>A uc003lox.2 + 21 2123 c.2050G>A c.(2050-2052)Gag>Aag p.E684K SPINK5_uc010jgs.1_Missense_Mutation_p.E656K|SPINK5_uc010jgr.2_Missense_Mutation_p.E665K|SPINK5_uc003low.2_Missense_Mutation_p.E684K|SPINK5_uc003loy.2_Missense_Mutation_p.E684K NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA. 684 Kazal-like 10. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGAAAGAAGAGGAAGATCA 0.458000 67 15 0 0 0.003163 0 0 CLCN2 1181 broad.mit.edu 37 3 184075585 184075585 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:184075585G>A uc003foi.3 - 5 799 c.675C>T c.(673-675)ctC>ctT p.L225L CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Silent_p.L225L|CLCN2_uc011brl.2_Silent_p.L225L|CLCN2_uc011brm.2_Silent_p.L181L|CLCN2_uc011brn.1_Silent_p.L225L NM_004366 NP_004357 P51788 CLCN2_HUMAN Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA. 225 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) TACCCCCAAAGAGGGAGAGGA 0.637000 30 12 0 0 0.002450 0 0 TTLL13 440307 broad.mit.edu 37 15 90794035 90794035 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:90794035C>T uc002bpd.1 + 1 461 c.173C>T c.(172-174)gCc>gTc p.A58V TTLL13_uc002bpe.1_Non-coding_Transcript NM_001029964 NP_001025135 A6NNM8 TTL13_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA. 58 protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) CCCATTATGGCCACAAAAATT 0.468000 105 25 0 0 0.005443 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43636489 43636489 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:43636489G>A uc010ojx.2 - 4 699 c.550C>T c.(550-552)Cct>Tct p.P184S EBNA1BP2_uc001cio.3_Missense_Mutation_p.P184S|WDR65_uc010ojz.2_5'Flank|WDR65_uc001ciq.2_5'Flank|WDR65_uc001cip.2_5'Flank|WDR65_uc021omk.1_5'Flank|EBNA1BP2_uc001cin.3_Missense_Mutation_p.P129S NM_001159936 NP_006815 Q99848 EBP2_HUMAN Homo sapiens EBNA1 binding protein 2 (EBNA1BP2), transcript variant 1, mRNA. 129 ribosome biogenesis membrane fraction|nucleolus protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(9) 16 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CGCTTCGTAGGGACTTTGAGC 0.473000 98 41 0 0 0.002222 0 0 DOCK3 1795 broad.mit.edu 37 3 51274943 51274943 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:51274943G>A uc011bds.2 + 20 2047 c.2024G>A c.(2023-2025)cGa>cAa p.R675Q NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 675 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) AACCTGCTCCGAGACATCAAG 0.473000 15 9 0 0 0.006214 0 0 GPC4 2239 broad.mit.edu 37 X 132458250 132458250 + Missense_Mutation SNP T A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:132458250T>A uc004exc.1 - 2 846 c.634A>T c.(634-636)Act>Tct p.T212S GPC4_uc011mvg.1_Missense_Mutation_p.T142S NM_001448 NP_001439 O75487 GPC4_HUMAN Homo sapiens glypican 4 (GPC4), mRNA. 212 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;0.000127) AAAGCACGAGTAACCTGGAGC 0.512000 15 31 0 0 0.007291 0 0 RYR2 6262 broad.mit.edu 37 1 237433839 237433839 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:237433839G>A uc001hyl.1 + 1 211 c.91G>A c.(91-93)Gaa>Aaa p.E31K NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 31 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CATCCACAAAGAACAACAGAA 0.473000 6 10 0 0 0.008291 0 0 F2 2147 broad.mit.edu 37 11 46750981 46750981 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:46750981G>A uc001ndf.4 + 11 1567 c.1524G>A c.(1522-1524)aaG>aaA p.K508K NM_000506 NP_000497 P00734 THRB_HUMAN Homo sapiens coagulation factor II (thrombin) (F2), mRNA. 508 Peptidase S1. STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GCAACCTGAAGGAGACGTGGA 0.632000 60 27 0 0 0.002096 0 0 MBD5 55777 broad.mit.edu 37 2 149240855 149240855 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:149240855C>T uc002twm.4 + 9 3692 c.2695C>T c.(2695-2697)Cat>Tat p.H899Y MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002two.3_5'Flank|MBD5_uc002twp.3_5'Flank NM_018328 NP_060798 Q9P267 MBD5_HUMAN Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA. 899 chromosome|nucleus DNA binding|chromatin binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) GCACGCACTTCATTTTCCATC 0.498000 159 44 0 0 0.002222 0 0 PLCH1 23007 broad.mit.edu 37 3 155203145 155203145 + Splice_Site SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:155203145C>T uc021xge.1 - 22 3275 c.2998_splice c.e22+1 p.A1000_splice PLCH1_uc021xgd.1_Splice_Site_p.V1000_splice|PLCH1_uc021xgf.1_Splice_Site_p.A962_splice NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA. 1000 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCATCTTACCTAGAGAGTTT 0.423000 30 7 0 0 0.001984 0 0 VAV1 7409 broad.mit.edu 37 19 6833630 6833630 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:6833630G>A uc002mfu.1 + 16 1799 c.1702G>A c.(1702-1704)Ggg>Agg p.G568R VAV1_uc010xjh.1_Missense_Mutation_p.G536R|VAV1_uc010dva.1_Missense_Mutation_p.G568R|VAV1_uc002mfv.1_Missense_Mutation_p.G513R NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 568 T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TGGCCGACATGGGCAAGGTAC 0.582000 46 35 0 0 0.002445 0 0 KIAA1217 56243 broad.mit.edu 37 10 24832987 24832987 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr10:24832987G>A uc001iru.4 + 18 5191 c.4788G>A c.(4786-4788)ggG>ggA p.G1596G KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Silent_p.G1279G|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Silent_p.G432G NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1596 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 CTAAAACAGGGAAGAAGACTT 0.458000 64 32 0 0 0.004289 0 0 SH3D19 152503 broad.mit.edu 37 4 152049406 152049406 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:152049406C>T uc010ipl.1 - 18 3164 c.2074G>A c.(2074-2076)Gaa>Aaa p.E692K SH3D19_uc003imb.2_Missense_Mutation_p.E447K|SH3D19_uc003imc.2_Missense_Mutation_p.E633K|SH3D19_uc003ime.2_Missense_Mutation_p.E669K|SH3D19_uc010ipm.2_Missense_Mutation_p.E669K NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA. 692 SH3 4. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport Golgi apparatus|cytosol|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TCCAGACGTTCCAGAATCTGG 0.532000 50 17 0 0 0.004990 0 0 APLNR 187 broad.mit.edu 37 11 57003831 57003831 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:57003831G>A uc001njo.3 - 0 1097 c.648C>T c.(646-648)atC>atT p.I216I APLNR_uc001njn.4_Non-coding_Transcript NM_005161 NP_005152 P35414 APJ_HUMAN Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA. 216 integral to plasma membrane G-protein coupled receptor activity p.T215I(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 AGGTCAGCATGATGGTGAAGG 0.622000 42 17 0 0 0.007413 0 0 DPP6 1804 broad.mit.edu 37 7 154143391 154143391 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:154143391C>T uc003wlk.3 + 1 465 c.336C>T c.(334-336)acC>acT p.T112T DPP6_uc003wli.3_Silent_p.T48T|DPP6_uc003wlj.3_Silent_p.T112T|DPP6_uc010lqh.1_Silent_p.T50T|DPP6_uc003wlm.3_Silent_p.T50T|DPP6_uc011kvq.2_Silent_p.T50T NM_130797 NP_570629 P42658 DPP6_HUMAN Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA. 112 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TGATCGTCACCTCGGTCATAC 0.438000 89 14 0 0 0.003163 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889835 23889835 + Missense_Mutation SNP G C C TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:23889835G>C uc001ywj.4 - 0 3159 c.3055C>G c.(3055-3057)Ccc>Gcc p.P1019A NM_019066 NP_061939 Homo sapiens MAGE-like 2 (MAGEL2), mRNA. breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 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;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TCATCCAAGGGAGACAAGGGC 0.572000 23 17 0 0 0.006122 0 0 FLG2 388698 broad.mit.edu 37 1 152326343 152326343 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:152326343C>T uc001ezw.4 - 2 3992 c.3919G>A c.(3919-3921)Gtt>Att p.V1307I AK056431_uc001ezv.3_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN Homo sapiens filaggrin family member 2 (FLG2), mRNA. 1307 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTTCTGCGAACTGTGGATCCT 0.473000 245 50 0 0 0.003610 0 0 PREX2 80243 broad.mit.edu 37 8 68939480 68939480 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:68939480G>A uc003xxv.1 + 4 492 c.465G>A c.(463-465)cgG>cgA p.R155R PREX2_uc003xxu.1_Silent_p.R155R|PREX2_uc011lez.1_Silent_p.R90R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 155 DH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding p.R155Q(1) NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TTGGAGGACGGAAGAACACAG 0.358000 45 9 0 0 0.004482 0 0 FGGY 55277 broad.mit.edu 37 1 60139762 60139762 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:60139762C>T uc009wac.3 + 14 1753 c.1541C>T c.(1540-1542)gCt>gTt p.A514V FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Missense_Mutation_p.A490V|FGGY_uc001czl.4_Missense_Mutation_p.A402V|FGGY_uc001czm.4_Missense_Mutation_p.A191V NM_001113411 NP_001106882 Q96C11 FGGY_HUMAN Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA. 490 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) GTGGGTGCTGCTGTTCTGGGT 0.612000 30 6 0 0 0.003080 0 0 KLRC4 8302 broad.mit.edu 37 12 10560383 10560383 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:10560383G>A uc001qye.3 - 3 528 c.346C>T c.(346-348)Cat>Tat p.H116Y KLRK1_uc001qyc.3_5'UTR|KLRK1_uc009zhk.3_5'UTR|KLRK1_uc001qyd.3_5'UTR NM_013431 NP_038459 O43908 NKG2F_HUMAN Homo sapiens killer cell lectin-like receptor subfamily C, member 4 (KLRC4), mRNA. 116 cellular defense response integral to membrane binding|receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(1) 5 TGGCCACAATGACGTGCTAAA 0.318000 91 63 0 0 0.003610 0 0 LGR5 8549 broad.mit.edu 37 12 71971717 71971717 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:71971717G>A uc001swl.3 + 13 1269 c.1221G>A c.(1219-1221)tgG>tgA p.W407* LGR5_uc001swm.3_Nonsense_Mutation_p.W383*|LGR5_uc021rar.1_Nonsense_Mutation_p.W335*|LGR5_uc001swn.1_Non-coding_Transcript NM_003667 NP_003658 O75473 LGR5_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA. 407 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 ATTTGGCTTGGAACAAAATTG 0.308000 494 131 0 0 0.003610 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661398 176661398 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:176661398C>T uc001gkz.3 + 5 3732 c.2568C>T c.(2566-2568)acC>acT p.T856T PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 856 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TCGGACAGACCAACAAGTCCC 0.517000 159 36 0 0 0.006230 0 0 EDIL3 10085 broad.mit.edu 37 5 83360657 83360657 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:83360657G>A uc003kio.1 - 7 1233 c.814C>T c.(814-816)Cgt>Tgt p.R272C EDIL3_uc003kip.1_Missense_Mutation_p.R262C|EDIL3_uc011ctt.1_Missense_Mutation_p.R49C NM_005711 NP_005702 O43854 EDIL3_HUMAN Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA. 272 F5/8 type C 1. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3) 31 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) ATGTTTCCACGAAACACCTGT 0.338000 37 8 0 0 0.003080 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8216517 8216517 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:8216517C>T uc002glc.3 + 2 1034 c.879C>T c.(877-879)ttC>ttT p.F293F ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Silent_p.F293F|ARHGEF15_uc010vuw.2_Intron NM_173728 NP_776089 O94989 ARHGF_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA. 293 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CCACCATTTTCGGGGACCCCC 0.592000 38 7 0 0 0.004482 0 0 TTC27 55622 broad.mit.edu 37 2 32983364 32983364 + Silent SNP A G G TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:32983364A>G uc002rom.3 + 12 1731 c.1458A>G c.(1456-1458)gaA>gaG p.E486E TTC27_uc010ymx.2_Silent_p.E436E NM_017735 NP_001180438 Q6P3X3 TTC27_HUMAN Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA. 486 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 TCTAGGCAGAAGAAATCCTTA 0.368000 42 16 0 0 0.003163 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64608226 64608226 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:64608226C>T uc003dmg.3 - 16 2458 c.2426G>A c.(2425-2427)gGa>gAa p.G809E ADAMTS9_uc011bfo.2_Missense_Mutation_p.G781E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G638E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G809E NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 809 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) AACAAAGTTTCCATTTAGCAA 0.393000 351 101 0 0 0.003610 0 0 RNF20 56254 broad.mit.edu 37 9 104319879 104319879 + Splice_Site SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:104319879G>A uc004bbn.3 + 16 2472 c.2382_splice c.e16+1 p.Q794_splice NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN Homo sapiens ring finger protein 20 (RNF20), mRNA. 794 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) GAAGACTCAGGTAATTAGGAT 0.393000 28 7 0 0 0.004482 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251645 24251645 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:24251645G>A uc003xdz.2 + 3 568 c.348G>A c.(346-348)acG>acA p.T116T ADAMDEC1_uc010lub.2_Silent_p.T37T|ADAMDEC1_uc011lab.1_Silent_p.T37T NM_014479 NP_001138744 O15204 ADEC1_HUMAN Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA. 116 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AAATTACCACGAAACCTGAGA 0.458000 21 9 0 0 0.006214 0 0 KCNA4 3739 broad.mit.edu 37 11 30034030 30034030 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:30034030G>A uc021qfi.1 - 0 196 c.196C>T c.(196-198)Cag>Tag p.Q66* KCNA4_uc001msk.3_Nonsense_Mutation_p.Q66* NM_002233 NP_002224 P22459 KCNA4_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA. 66 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CCGCGTGACTGGTGGTGGTGG 0.657000 38 16 0 0 0.004990 0 0 C15orf2 23742 broad.mit.edu 37 15 24921149 24921149 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:24921149C>T uc001ywo.3 + 0 609 c.135C>T c.(133-135)cgC>cgT p.R45R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 45 cell differentiation|multicellular organismal development|spermatogenesis p.R45C(1) NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCACCCCGCGCCCTTTCCGCG 0.766000 27 12 0 0 0.004007 0 0 GARNL3 84253 broad.mit.edu 37 9 130111261 130111261 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:130111261C>T uc011mae.2 + 16 1891 c.1490C>T c.(1489-1491)cCc>cTc p.P497L GARNL3_uc011mad.2_Missense_Mutation_p.P475L NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA. 497 CNH. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 TGTGCAGATCCCTGGGGCCAG 0.502000 41 12 0 0 0.004007 0 0 STAB1 23166 broad.mit.edu 37 3 52539712 52539712 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:52539712G>A uc003dej.3 + 14 1684 c.1610G>A c.(1609-1611)gGa>gAa p.G537E STAB1_uc003dei.1_Missense_Mutation_p.G537E NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 537 FAS1 2. 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) ATCCTGGACGGACCTGGGCCC 0.637000 26 15 0 0 0.004990 0 0 RBMY1A3P 286557 broad.mit.edu 37 Y 9160425 9160425 + RNA SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrY:9160425C>T uc004frl.1 - 0 c.59G>A Homo sapiens RNA binding motif protein, Y-linked, family 1, member A3 pseudogene (RBMY1A3P), non-coding RNA. TCTCATTGGTCTCTCTATTGA 0.383000 15 4 0 0 0.000602 0 0 RELN 5649 broad.mit.edu 37 7 103202089 103202089 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:103202089C>T uc022ajr.1 - 35 5579 c.5419G>A c.(5419-5421)Gat>Aat p.D1807N RELN_uc022ajq.1_Missense_Mutation_p.D1807N|RELN_uc010liz.3_Missense_Mutation_p.D1807N NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 1807 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CCATTGAAATCGTCTTTAAGA 0.453000 42 11 0 0 0.000978 0 0 CEACAM5 1048 broad.mit.edu 37 19 42218936 42218936 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:42218936G>A uc002orl.3 + 2 592 c.471G>A c.(469-471)gtG>gtA p.V157V CEACAM5_uc010ehz.1_Silent_p.V157V|CEACAM5_uc002orj.1_Silent_p.V157V NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 157 Ig-like 2. 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) CCAAACCCGTGGAGGACAAGG 0.562000 98 30 0 0 0.002096 0 0 RPS20 6224 broad.mit.edu 37 8 56985769 56985769 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:56985769G>A uc003xsm.2 - 3 438 c.240C>T c.(238-240)ttC>ttT p.F80F RPS20_uc003xsn.2_Silent_p.F80F NM_001146227 NP_001139699 P60866 RS20_HUMAN Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA. 80 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit RNA binding|protein binding|structural constituent of ribosome all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155) Epithelial(17;0.00117)|all cancers(17;0.00879) TTCTCATCTGGAAACGATCCC 0.413000 98 25 0 0 0.007291 0 0 ADAM7 8756 broad.mit.edu 37 8 24350590 24350590 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:24350590G>A uc003xeb.3 + 15 1803 c.1690G>A c.(1690-1692)Ggg>Agg p.G564R ADAM7_uc003xec.3_Missense_Mutation_p.G336R NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 564 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CTGCACTGGAGGGGAGCTTTC 0.403000 53 14 0 0 0.004990 0 0 ARMC9 80210 broad.mit.edu 37 2 232079550 232079550 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:232079550C>T uc002vrq.4 + 3 296 c.184C>T c.(184-186)Ctt>Ttt p.L62F ARMC9_uc002vrp.4_Missense_Mutation_p.L62F NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA. 62 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) ACAGAAGGATCTTGTCGCTGC 0.468000 64 17 0 0 0.006122 0 0 LRTM2 654429 broad.mit.edu 37 12 1940101 1940101 + Splice_Site SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr12:1940101G>A uc001qjt.2 + 4 874 c.68_splice c.e4-1 p.W23_splice CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Splice_Site_p.W23_splice|LRTM2_uc010sdx.1_Splice_Site_p.W23_splice|LRTM2_uc001qjv.2_Intron NM_001039029 NP_001157398 Q8N967 LRTM2_HUMAN Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA. 23 integral to membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 20 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.000834) TCCCACCAAGGGATCACCTGC 0.592000 21 7 0 0 0.003080 0 0 XIST 7503 broad.mit.edu 37 X 73068856 73068856 + RNA SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chrX:73068856G>A uc004ebm.1 - 0 c.3733C>T Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA. GTTATGCAAAGATGTTTGCAA 0.378000 16 13 0 0 0.001368 0 0 FLJ36000 284124 broad.mit.edu 37 17 21904114 21904114 + RNA SNP A G G rs75848292 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr17:21904114A>G uc002gza.2 + 0 c.53A>G Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA. tccggctgccaggagtcgcaa 0.687000 12 4 0 0 0.000248 0 0 MYOM2 9172 broad.mit.edu 37 8 2057229 2057230 + Missense_Mutation DNP GG AA AA TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:2057229_2057230GG>AA uc003wpx.4 + 24 3225_3226 c.3087_3088GG>AA c.(3085-3090)aagggg>aaAAgg p.G1030R MYOM2_uc011kwi.2_Missense_Mutation_p.G455R NM_003970 NP_003961 P54296 MYOM2_HUMAN Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA. 1030 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) TTTTTGATAAGGGGCGGGTTCG 0.436000 34 9 0 0 0.004672 0 0 RBM27 54439 broad.mit.edu 37 5 145609352 145609352 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:145609352C>T uc003lnz.4 + 4 634 c.468C>T c.(466-468)taC>taT p.Y156Y RBM27_uc003lny.2_Silent_p.Y156Y NM_018989 NP_061862 Q9P2N5 RBM27_HUMAN Homo sapiens RNA binding motif protein 27 (RBM27), mRNA. 156 Arg-rich. mRNA processing cytoplasm|nuclear speck RNA binding|nucleotide binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGAATTGTACCGTGAGAAGT 0.468000 88 27 0 0 0.003954 0 0 ELL 8178 broad.mit.edu 37 19 18557179 18557180 + Missense_Mutation DNP CC TT TT rs115932129 byFrequency TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:18557179_18557180CC>TT uc002njh.3 - 9 1715_1716 c.1643_1644GG>AA c.(1642-1644)cgg>cAA p.R548Q ELL_uc010ebq.3_Missense_Mutation_p.R491Q|ELL_uc002njg.3_Missense_Mutation_p.R415Q NM_006532 NP_006523 P55199 ELL_HUMAN Homo sapiens elongation factor RNA polymerase II (ELL), mRNA. 548 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) GGGTGAACCGCCGCGTGATGCG 0.658000 T MLL AL 19 7 0 0 0.004672 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140763535 140763536 + Missense_Mutation DNP CC TT TT TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:140763535_140763536CC>TT uc003lka.2 + 0 1069_1070 c.1069_1070CC>TT c.(1069-1071)cct>TTt p.P357F PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.P357F NM_018920 NP_061743 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA. 360 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.N357K(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAGCTCAATCCCTGAAGACACA 0.426000 40 12 0 0 0.004672 0 0 ZNF790 388536 broad.mit.edu 37 19 37309763 37309763 + Nonsense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr19:37309763G>A uc021utk.1 - 4 1912 c.1483C>T c.(1483-1485)Cga>Tga p.R495* LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Nonsense_Mutation_p.R495*|ZNF790_uc021utl.1_Nonsense_Mutation_p.R495*|ZNF790_uc021utm.1_Nonsense_Mutation_p.R495* NM_001242802 NP_001229731 Q6PG37 ZN790_HUMAN Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA. 495 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 32 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) TTCTGGTGTCGATTAAGTTCT 0.393000 40 19 0 0 0.001523 0 0 GNAL 2774 broad.mit.edu 37 18 11867202 11867202 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr18:11867202G>A uc002kqc.2 + 7 1314 c.887G>A c.(886-888)aGa>aAa p.R296K GNAL_uc002kqd.2_Missense_Mutation_p.R219K|GNAL_uc010dkz.2_Missense_Mutation_p.R219K|GNAL_uc010wzt.1_Missense_Mutation_p.R12K NM_182978 NP_892023 P38405 GNAL_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA. 219 activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1) 12 GATGAGAGGAGAAAATGGATC 0.438000 40 9 0 0 0.008291 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18766227 18766227 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:18766227C>T uc010exr.3 - 3 394 c.282G>A c.(280-282)acG>acA p.T94T NT5C1B-RDH14_uc002rcy.3_Silent_p.T152T|NT5C1B-RDH14_uc010yju.2_Silent_p.T92T|NT5C1B-RDH14_uc002rcz.3_Silent_p.T152T|NT5C1B-RDH14_uc010yjw.2_Silent_p.T135T|NT5C1B-RDH14_uc010yjv.2_Silent_p.T169T|NT5C1B-RDH14_uc010exs.3_Silent_p.T154T|NT5C1B-RDH14_uc002rda.3_Silent_p.T92T|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'UTR NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 152 purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding TCCGGGAGCTCGTGGAGCTGC 0.662000 16 4 0 0 0.000248 0 0 CAGE1 285782 broad.mit.edu 37 6 7373595 7373595 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr6:7373595G>A uc003mxl.2 - 4 1988 c.1457C>T c.(1456-1458)tCt>tTt p.S486F CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.S350F|CAGE1_uc003mxj.3_Missense_Mutation_p.S241F|CAGE1_uc003mxk.2_Missense_Mutation_p.S486F NM_001170692 NP_001164163 Q8TC20 CAGE1_HUMAN Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA. 486 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) CTCCTGTAAAGACAAGAACTC 0.393000 30 6 0 0 0.001984 0 0 LOC650368 650368 broad.mit.edu 37 11 3429945 3429946 + RNA DNP GG AA AA TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:3429945_3429946GG>AA uc010qxs.1 + 10 c.1044_1045GG>AA LOC650368_uc001lxy.2_Non-coding_Transcript Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA. CTGATCCTGCGGGCAAGCTAAA 0.530000 32 11 0 0 0.004672 0 0 CR1 1378 broad.mit.edu 37 1 207803933 207803933 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr1:207803933C>T uc001hfy.3 + 37 6214 c.6074C>T c.(6073-6075)cCc>cTc p.P2025L CR1_uc001hfx.3_Missense_Mutation_p.P2475L|CR1_uc021pij.1_Missense_Mutation_p.P2025L NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 2025 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AGCGTTCATCCCCGAACTCTG 0.353000 12 16 0 0 0.004990 0 0 DEFB118 117285 broad.mit.edu 37 20 29960927 29960927 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr20:29960927G>A uc002wvr.3 + 1 359 c.326G>A c.(325-327)gGa>gAa p.G109E NM_054112 NP_473453 Q96PH6 DB118_HUMAN Homo sapiens defensin, beta 118 (DEFB118), mRNA. 109 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TCTGAGGCGGGAAGGGGAACT 0.433000 49 24 0 0 0.004656 0 0 TRIO 7204 broad.mit.edu 37 5 14482699 14482699 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:14482699C>T uc003jff.3 + 45 6480 c.6474C>T c.(6472-6474)atC>atT p.I2158I TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.I1807I NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 2158 PH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) AGGGGAAAATCGTTGCCCAGG 0.453000 17 6 0 0 0.003080 0 0 ART3 419 broad.mit.edu 37 4 77003601 77003601 + Nonsense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:77003601C>T uc003hjo.3 + 2 828 c.694C>T c.(694-696)Caa>Taa p.Q232* ART3_uc003hji.3_Nonsense_Mutation_p.Q232*|ART3_uc003hjj.3_Nonsense_Mutation_p.Q232*|ART3_uc003hjk.3_Nonsense_Mutation_p.Q232*|ART3_uc010ija.2_Nonsense_Mutation_p.Q232*|ART3_uc003hjn.3_Nonsense_Mutation_p.Q232*|ART3_uc003hjp.3_Intron|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Nonsense_Mutation_p.Q202*|ART3_uc010ijc.3_Nonsense_Mutation_p.Q202*|ART3_uc010ijd.3_Nonsense_Mutation_p.Q202* NM_001130016 NP_001123488 Q13508 NAR3_HUMAN Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA. 232 protein ADP-ribosylation anchored to membrane|integral to plasma membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1) 16 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TGAGGTTTTTCAAGTGTCACA 0.393000 35 12 0 0 0.000978 0 0 TPO 7173 broad.mit.edu 37 2 1480905 1480905 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:1480905C>T uc002qwr.3 + 7 953 c.867C>T c.(865-867)ttC>ttT p.F289F TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.F289F|TPO_uc002qwx.3_Silent_p.F289F|TPO_uc002qwu.3_Silent_p.F289F|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Silent_p.F289F NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 289 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GTCTGCCCTTCTACCGCTCTT 0.697000 26 12 0 0 0.001368 0 0 TRPC6 7225 broad.mit.edu 37 11 101374914 101374914 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr11:101374914C>T uc001pgk.4 - 1 1211 c.786G>A c.(784-786)caG>caA p.Q262Q TRPC6_uc009ywy.3_Silent_p.Q262Q|TRPC6_uc009ywz.1_Silent_p.Q262Q NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 262 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGTCATGCTTCTGTTTCTGGT 0.468000 96 35 0 0 0.004878 0 0 PPP1R1C 151242 broad.mit.edu 37 2 182852601 182852601 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:182852601G>A uc010frm.1 + 1 425 c.138G>A c.(136-138)gtG>gtA p.V46V PPP1R1C_uc002uoo.3_Silent_p.V39V|PPP1R1C_uc002uop.1_Silent_p.V39V|PPP1R1C_uc010frn.1_Non-coding_Transcript NM_001080545 NP_001074014 Q8WVI7 PPR1C_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1C (PPP1R1C), mRNA. 39 signal transduction cytoplasm protein phosphatase inhibitor activity p.N45S(1) NS(1)|breast(1)|endometrium(2)|large_intestine(2) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0628) CATCACTTGTGATTCTCAATG 0.418000 131 40 0 0 0.003214 0 0 GBA3 57733 broad.mit.edu 37 4 22749261 22749261 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:22749261C>T uc003gqp.4 + 2 720 c.629C>T c.(628-630)tCc>tTc p.S210F GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.S211F NM_020973 NP_066024 Q9H227 GBA3_HUMAN Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA. 210 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGCTATGATTCCTTATTTCGA 0.473000 109 37 0 0 0.003271 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36103869 36103870 + Missense_Mutation DNP GG TA TA TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr14:36103869_36103870GG>TA uc001wtj.3 - 31 4778_4779 c.4387_4388CC>TA c.(4387-4389)cct>TAt p.P1463Y RALGAPA1_uc010amp.3_Non-coding_Transcript|RALGAPA1_uc001wti.3_Missense_Mutation_p.P1463Y|RALGAPA1_uc010tpv.2_Missense_Mutation_p.P1476Y|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1510Y NM_194301 NP_919277 Q6GYQ0 RGPA1_HUMAN Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA. 1463 Minimal domain that binds to TCF3/E12 (By similarity). activation of Ral GTPase activity cytosol|mitochondrion|nucleus Ral GTPase activator activity|protein heterodimerization activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATGCATAAAAGGATCATAATCT 0.416000 25 12 0 0 0.004672 0 0 HECW2 57520 broad.mit.edu 37 2 197086970 197086970 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:197086970G>A uc002utm.1 - 23 4294 c.4111C>T c.(4111-4113)Ctc>Ttc p.L1371F HECW2_uc002utl.1_Missense_Mutation_p.L1015F NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 1371 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GTGAACGTGAGGTCTAGGATG 0.448000 55 16 0 0 0.004007 0 0 ROR2 4920 broad.mit.edu 37 9 94486979 94486979 + Silent SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr9:94486979G>A uc004arj.2 - 8 1996 c.1797C>T c.(1795-1797)atC>atT p.I599I ROR2_uc004ari.1_Silent_p.I459I NM_004560 NP_004551 Q01974 ROR2_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA. 599 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TCCCCGCCGCGATCTGTGCCA 0.622000 40 14 0 0 0.006122 0 0 ADAM2 2515 broad.mit.edu 37 8 39626988 39626988 + Missense_Mutation SNP G A A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr8:39626988G>A uc003xnj.3 - 11 1210 c.1135C>T c.(1135-1137)Cct>Tct p.P379S ADAM2_uc003xnk.3_Missense_Mutation_p.P360S|ADAM2_uc011lck.2_Missense_Mutation_p.P379S|ADAM2_uc003xnl.3_Missense_Mutation_p.P253S NM_001464 NP_001455 Q99965 ADAM2_HUMAN Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA. 379 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TTGAAAAAAGGATCTAAGCGA 0.443000 39 16 0 0 0.004007 0 0 ABCC5 10057 broad.mit.edu 37 3 183669325 183669325 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr3:183669325C>T uc003fmg.3 - 19 3013 c.2848G>A c.(2848-2850)Gag>Aag p.E950K ABCC5_uc011bqt.2_Missense_Mutation_p.E478K|ABCC5_uc010hxl.3_Missense_Mutation_p.E950K NM_005688 NP_005679 O15440 MRP5_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA. 950 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) CGGAAAAGCTCGTCATGCAGC 0.557000 58 25 0 0 0.007291 0 0 THBS1 7057 broad.mit.edu 37 15 39874527 39874527 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr15:39874527C>T uc001zkh.3 + 2 380 c.201C>T c.(199-201)atC>atT p.I67I NM_003246 NP_003237 P07996 TSP1_HUMAN Homo sapiens thrombospondin 1 (THBS1), mRNA. 67 Heparin-binding.|TSP N-terminal. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CCAACCTGATCCCCCCTGTGC 0.622000 34 7 0 0 0.001984 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463406 5463406 + Missense_Mutation SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr5:5463406C>T uc003jdm.4 + 12 4181 c.3959C>T c.(3958-3960)cCa>cTa p.P1320L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN Homo sapiens KIAA0947 (KIAA0947), mRNA. 1320 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GAACCAACCCCACAAGCAGCT 0.493000 14 4 0 0 0.000248 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c 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 39 0 0 0.007835 0 0 PCLO 27445 broad.mit.edu 37 7 82580556 82580556 + Silent SNP C T T TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr7:82580556C>T uc003uhx.2 - 5 9637 c.9348G>A c.(9346-9348)agG>agA p.R3116R PCLO_uc003uhv.2_Silent_p.R3116R|PCLO_uc010lec.3_Silent_p.R81R NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3047 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGACAAATCCCTCACTGTGG 0.448000 17 26 0 0 0.005443 0 0 KLHL23 151230 broad.mit.edu 37 2 170591984 170591996 + Frame_Shift_Del DEL CTAGAGAAGGAAT - - TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr2:170591984_170591996delCTAGAGAAGGAAT uc002ufh.2 + 3 835_847 c.460_472delCTAGAGAAGGAAT c.(460-474)ctagagaaggaatctfs p.L154fs KLHL23_uc002ufi.2_Frame_Shift_Del_p.L154fs NM_001199290 NP_001186219 Q8NBE8 KLH23_HUMAN Homo sapiens PHOSPHO2-KLHL23 readthrough (PHOSPHO2-KLHL23), mRNA. 154 BACK. breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 GTGTCCAGAACTAGAGAAGGAATCTCGAAGAAT 0.371 --- 83 --- --- 18 --- KIAA1211 57482 broad.mit.edu 37 4 57180878 57180880 + In_Frame_Del DEL GAG - - TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr4:57180878_57180880delGAG uc003hbk.2 + 7 1601_1603 c.1210_1212delGAG c.(1210-1212)gagdel p.E407del KIAA1211_uc010iha.2_In_Frame_Del_p.E400del|KIAA1211_uc011bzz.1_In_Frame_Del_p.E317del|KIAA1211_uc003hbm.1_In_Frame_Del_p.E293del NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 407 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) tctgggggaagaggaggaggagg 0.675 --- 4 --- --- 2 --- DIS3 22894 broad.mit.edu 37 13 73355847 73355847 + Frame_Shift_Del DEL C - - TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b51436d-a1cb-45b8-bcf4-d43fbc2de548 ef42fde7-962c-450d-929c-e8db3a96203c g.chr13:73355847delC uc001vix.4 - 0 498 c.124delG c.(124-126)gcgfs p.A42fs PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.3_5'Flank|PIBF1_uc001vjc.3_5'Flank|PIBF1_uc010aep.3_5'Flank|DIS3_uc001viy.4_Frame_Shift_Del_p.A42fs|DIS3_uc001viz.3_Non-coding_Transcript NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA. 42 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) CCCTCGTGCGCCCCTCCACAC 0.687 Multiple Myeloma(4;0.011) --- 4 --- --- 2 ---