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 PIP4K2A 5305 broad.mit.edu 37 10 22880653 22880653 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:22880653G>A uc001irl.4 - 3 645 c.397C>T c.(397-399)Cgt>Tgt p.R133C PIP4K2A_uc010qcu.2_5'UTR NM_005028 NP_005019 P48426 PI42A_HUMAN Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA. 133 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding p.R133H(12) endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 29 GTGTGAAAACGAGCTCCACTG 0.532000 9 27 0 0 0.000720815 0 0 TTN 7273 broad.mit.edu 37 2 179430378 179430378 + Nonsense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:179430378C>T uc021vsy.1 - 274 73002 c.72777G>A c.(72775-72777)tgG>tgA p.W24259* MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.W17954*|TTN_uc021vta.1_Nonsense_Mutation_p.W17887*|TTN_uc021vtb.1_Nonsense_Mutation_p.W17762* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25186 Fibronectin type-III 76. 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) CCACAATGCTCCATTTTTCAG 0.443000 7 32 0 0 0.000409698 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912113 101912113 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:101912113T>C uc010nod.3 + 2 3914 c.3272T>C c.(3271-3273)cTt>cCt p.L1091P ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.L1091P|GPRASP1_uc004ejj.4_Missense_Mutation_p.L1091P|GPRASP1_uc004eji.4_Missense_Mutation_p.L1091P|GPRASP1_uc022cbd.1_Missense_Mutation_p.L1091P NM_001099411 NP_055525 Q5JY77 GASP1_HUMAN Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA. 1091 OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AACATGGTACTTAGCCCAGAA 0.483000 181 110 0 0 0.000781405 0 0 FUT5 2527 broad.mit.edu 37 19 5867302 5867302 + Nonsense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:5867302C>T uc002mdo.4 - 1 606 c.435G>A c.(433-435)tgG>tgA p.W145* FUT5_uc010duo.3_Nonsense_Mutation_p.W145*|FUT5_uc021uno.1_Nonsense_Mutation_p.W145* NM_002034 NP_002025 Q11128 FUT5_HUMAN Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA. 145 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 TGAACCAGATCCAGCGCTGCC 0.622000 17 23 0 0 0.000586117 0 0 FAM83B 222584 broad.mit.edu 37 6 54735239 54735239 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:54735239G>A uc003pck.3 + 1 311 c.195G>A c.(193-195)ttG>ttA p.L65L NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 65 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ATTATATTTTGAAAAATGTCC 0.393000 31 15 0 0 0.000219431 0 0 GABRA4 2557 broad.mit.edu 37 4 46976321 46976321 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:46976321C>T uc003gxg.3 - 5 1632 c.649G>A c.(649-651)Gag>Aag p.E217K GABRA4_uc021xnz.1_Missense_Mutation_p.E198K|GABRA4_uc021xoa.1_Missense_Mutation_p.E198K NM_000809 NP_000800 P48169 GBRA4_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA. 217 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGGAAGACTCCTTCGGAACT 0.403000 0 5 0 0 0.000602214 0 0 ZFP42 132625 broad.mit.edu 37 4 188924639 188924639 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:188924639C>T uc003izh.1 + 3 1086 c.678C>T c.(676-678)ttC>ttT p.F226F ZFP42_uc003izi.1_Silent_p.F226F|ZFP42_uc021xvm.1_Silent_p.F226F NM_174900 NP_777560 Q96MM3 ZFP42_HUMAN Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA. 226 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GGAAAGCGTTCGTTGAGAGCT 0.507000 63 25 0 0 0.00106085 0 0 NELL1 4745 broad.mit.edu 37 11 20968909 20968909 + Missense_Mutation SNP A T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:20968909A>T uc009yid.3 + 11 1336 c.1183A>T c.(1183-1185)Atg>Ttg p.M395L NELL1_uc010rdp.2_Missense_Mutation_p.M127L|NELL1_uc001mqe.3_Missense_Mutation_p.M367L|NELL1_uc001mqf.3_Missense_Mutation_p.M367L|NELL1_uc010rdo.2_Missense_Mutation_p.M310L NM_006157 NP_006148 Q92832 NELL1_HUMAN Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA. 367 EGF-like 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 AATTACAGAAATGTGTCCTCC 0.408000 47 20 0 0 0.00121646 0 0 NBPF10 100132406 broad.mit.edu 37 1 144828688 144828688 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:144828688C>T uc009wig.1 + 21 2921 c.2727C>T c.(2725-2727)caC>caT p.H909H NBPF10_uc010oxo.1_Silent_p.H836H|NBPF10_uc010oxn.1_Silent_p.H809H|NBPF10_uc021oth.1_Silent_p.H571H|NBPF10_uc021otj.1_Silent_p.H938H|NBPF10_uc021oto.1_Silent_p.H726H|NBPF10_uc021otr.1_Silent_p.H238H|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Silent_p.H482H|NBPF10_uc010oyd.1_Silent_p.H238H|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 911 p.H578H(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAACAGCACATCAGCTTCG 0.433000 75 44 0 0 0.000781405 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421366 134421366 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:134421366G>A uc022ceq.1 - 5 1626 c.1236C>T c.(1234-1236)ttC>ttT p.F412F DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Silent_p.F317F NM_007131 NP_009062 P51815 ZN75D_HUMAN Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA. 412 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GATGGGTCATGAAGTGCTTAT 0.378000 60 36 0 0 0.000437636 0 0 PKD1L2 114780 broad.mit.edu 37 16 81171071 81171071 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:81171071G>A uc002fgh.1 - 33 5687 c.5687C>T c.(5686-5688)gCc>gTc p.A1896V PKD1L2_uc002fgf.1_5'Flank|PKD1L2_uc002fgg.1_Non-coding_Transcript NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA. 1897 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGGCAGCGGGGCCACAGTATC 0.602000 5 5 0 0 0.00116845 0 0 PCNT 5116 broad.mit.edu 37 21 47810612 47810612 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:47810612C>T uc002zji.4 + 19 3975 c.3868C>T c.(3868-3870)Cgt>Tgt p.R1290C PCNT_uc002zjj.3_Missense_Mutation_p.R1172C NM_006031 NP_006022 O95613 PCNT_HUMAN Homo sapiens pericentrin (PCNT), mRNA. 1290 G2/M transition of mitotic cell cycle|cilium assembly cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) AATTCATTCTCGTTTTGAAAA 0.413000 42 16 0 0 0.000422831 0 0 GRIN2A 2903 broad.mit.edu 37 16 9928072 9928072 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:9928072G>A uc010uym.2 - 8 1977 c.1667C>T c.(1666-1668)tCt>tTt p.S556F GRIN2A_uc002czo.4_Missense_Mutation_p.S556F|GRIN2A_uc010uyn.2_Missense_Mutation_p.S399F|GRIN2A_uc002czr.4_Missense_Mutation_p.S556F NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 556 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.S556Y(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CACCCAGACAGAGGCGCTGAA 0.438000 13 10 0 0 0.000442599 0 0 ANK2 287 broad.mit.edu 37 4 114280158 114280158 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:114280158G>A uc003ibe.4 + 37 10484 c.10384G>A c.(10384-10386)Gaa>Aaa p.E3462K ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.E3477K NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3429 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) CCCCACAAAAGAAAGTAAGGA 0.453000 2 6 0 0 0.00116845 0 0 TAS2R16 50833 broad.mit.edu 37 7 122635000 122635000 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:122635000G>A uc003vkl.1 - 0 755 c.689C>T c.(688-690)gCc>gTc p.A230V NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA. 230 detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding p.A230A(2)|p.L229I(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AAATAAGACGGCAAGGGACCT 0.433000 11 21 0 0 0.00188189 0 0 TTC39C 125488 broad.mit.edu 37 18 21712461 21712461 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:21712461G>A uc002kuw.3 + 13 2127 c.1675G>A c.(1675-1677)Ggc>Agc p.G559S TTC39C_uc002kuu.3_Missense_Mutation_p.G498S NM_001135993 NP_694943 Q8N584 TT39C_HUMAN Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA. 559 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 GGATTTCTCTGGCTACGACTT 0.463000 12 19 0 0 0.00188189 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718335 142718335 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:142718335C>T uc022cfm.1 - 0 590 c.590G>A c.(589-591)gGg>gAg p.G197E SLITRK4_uc022cfl.1_Missense_Mutation_p.G197E|SLITRK4_uc004fbx.3_Missense_Mutation_p.G197E|SLITRK4_uc004fby.3_Missense_Mutation_p.G197E NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 197 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) TTCCAGAACCCCGATATAAGG 0.438000 68 51 0 0 0.000781405 0 0 TNXB 7148 broad.mit.edu 37 6 32029196 32029197 + Missense_Mutation DNP CG AT AT TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:32029196_32029197CG>AT uc003nzl.2 - 20 7671_7672 c.7469_7470CG>AT c.(7468-7470)ccg>cAT p.P2490H NM_019105 NP_061978 P22105 TENX_HUMAN Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA. 2550 Fibronectin type-III 17. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CGGTGGACACCGGGCCCACGCG 0.639000 468 8 0 0 6.4e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 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 14 27 0 0 0.00178596 0 0 KLHDC10 23008 broad.mit.edu 37 7 129736814 129736814 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:129736814C>T uc003vpj.2 + 1 355 c.220C>T c.(220-222)Ccc>Tcc p.P74S KLHDC10_uc003vpk.2_Intron|KLHDC10_uc010lmb.2_Intron NM_014997 NP_055812 Q6PID8 KLD10_HUMAN Homo sapiens kelch domain containing 10 (KLHDC10), mRNA. 74 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1) 17 TCAGTCCTGTCCCATCATAAG 0.408000 93 24 0 0 0.00127121 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709694 128709694 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:128709694C>T uc001qeo.1 - 1 553 c.502G>A c.(502-504)Gtt>Att p.V168I KCNJ1_uc001qep.1_Missense_Mutation_p.V149I|KCNJ1_uc001qeq.1_Missense_Mutation_p.V149I|KCNJ1_uc001qer.1_Missense_Mutation_p.V149I|KCNJ1_uc001qes.1_Missense_Mutation_p.V149I|KCNJ1_uc021qsb.1_Missense_Mutation_p.V149I NM_000220 NP_000211 P48048 IRK1_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA. 168 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TTGATTATAACTCCAAGTATA 0.443000 25 27 0 0 0.000720815 0 0 BRCA2 675 broad.mit.edu 37 13 32907491 32907491 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr13:32907491G>A uc001uub.1 + 9 2103 c.1876G>A c.(1876-1878)Gaa>Aaa p.E626K BRCA2_uc001uua.1_Missense_Mutation_p.E503K NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 626 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAATGCTTTTGAAGCACCACT 0.318000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 42 11 0 0 0.000308642 0 0 DCC 1630 broad.mit.edu 37 18 50918177 50918177 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:50918177C>T uc002lfe.2 + 16 3224 c.2608C>T c.(2608-2610)Cct>Tct p.P870S DCC_uc010xdr.1_Missense_Mutation_p.P698S|DCC_uc010dpf.2_Missense_Mutation_p.P505S NM_005215 NP_005206 P43146 DCC_HUMAN Homo sapiens deleted in colorectal carcinoma (DCC), mRNA. 870 Fibronectin type-III 5. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CAACTCTGTCCCTAAGAACCA 0.522000 16 36 0 0 0.000692331 0 0 LMBRD2 92255 broad.mit.edu 37 5 36116632 36116632 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:36116632G>A uc003jkb.1 - 10 1781 c.1366C>T c.(1366-1368)Cgt>Tgt p.R456C NM_001007527 NP_001007528 Q68DH5 LMBD2_HUMAN Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA. 456 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTAAATACACGAATCCTGAAC 0.348000 39 15 0 0 0.000566183 0 0 KIAA1598 57698 broad.mit.edu 37 10 118711438 118711438 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:118711438G>A uc021pzk.1 - 5 1014 c.516C>T c.(514-516)ctC>ctT p.L172L KIAA1598_uc009xyw.3_Silent_p.L172L|KIAA1598_uc001lcz.4_Silent_p.L172L|KIAA1598_uc010qso.2_Silent_p.L112L|KIAA1598_uc010qsp.1_Silent_p.L172L|KIAA1598_uc010qsq.1_Silent_p.L112L|KIAA1598_uc001lcy.4_Silent_p.L142L NM_018330 NP_060800 A0MZ66 SHOT1_HUMAN Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA. 172 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) TTACTTCTACGAGTTTGCTCT 0.348000 6 16 0 0 0.000566183 0 0 CRHR1 1394 broad.mit.edu 37 17 43884400 43884400 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:43884400C>T uc010dap.3 + 1 323 c.58C>T c.(58-60)Ccc>Tcc p.P20S CRHR1_uc010wjx.2_5'UTR|CRHR1_uc002ijp.3_5'UTR|CRHR1_uc002ijm.3_Missense_Mutation_p.P20S|CRHR1_uc002ijn.3_Missense_Mutation_p.P20S|CRHR1_uc010dar.3_Missense_Mutation_p.P20S|CRHR1_uc010dao.3_5'UTR|CRHR1_uc010daq.3_5'UTR|CRHR1_uc010das.1_Non-coding_Transcript|CRHR1_uc002ijo.1_Non-coding_Transcript NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 20 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) GGGGCTGAACCCCGTCTCTGC 0.607000 18 20 0 0 0.000586117 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110397839 110397839 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:110397839G>A uc003yne.3 + 5 653 c.549G>A c.(547-549)ggG>ggA p.G183G NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 183 IPT/TIG 2. immune response cytosol|extracellular space|integral to membrane receptor activity 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) GCTCAAATGGGAAAAATGTTA 0.299000 HNSCC(38;0.096) 22 16 0 0 0.00074312 0 0 SYNE1 23345 broad.mit.edu 37 6 152826510 152826510 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:152826510C>T uc021zhb.1 - 6 827 c.604G>A c.(604-606)Gat>Aat p.D202N SYNE1_uc003qot.4_Missense_Mutation_p.D209N|SYNE1_uc003qou.4_Missense_Mutation_p.D202N|SYNE1_uc010kjb.1_Missense_Mutation_p.D202N|SYNE1_uc003qpa.1_Missense_Mutation_p.D202N NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 202 Actin-binding.|CH 2. Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCCCAAAATCTTTTACTTCT 0.403000 HNSCC(10;0.0054) 9 7 0 0 8.12818e-05 0 0 PLAA 9373 broad.mit.edu 37 9 26925929 26925929 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:26925929G>A uc003zqd.3 - 5 1188 c.763C>T c.(763-765)Ctg>Ttg p.L255L PLAA_uc003zqe.2_Silent_p.L255L NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN Homo sapiens phospholipase A2-activating protein (PLAA), mRNA. 255 phospholipid metabolic process|signal transduction phospholipase A2 activator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 17 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) CAGATTCTCAGAGATCTGTCC 0.383000 7 21 0 0 0.000375601 0 0 MXRA5 25878 broad.mit.edu 37 X 3227976 3227976 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:3227976C>T uc004crg.4 - 6 8425 c.8268G>A c.(8266-8268)atG>atA p.M2756I NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2756 Ig-like C2-type 12. 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) TCCCCATAGCCATGCAGTTCA 0.567000 78 51 0 0 0.000781405 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188326 72188326 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:72188326C>T uc002fcc.4 - 3 370 c.198G>A c.(196-198)gaG>gaA p.E66E PMFBP1_uc002fcd.3_Silent_p.E66E|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_5'UTR NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 66 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) CCTCTGACTCCTCGAATGCTA 0.423000 29 18 0 0 0.00074312 0 0 OR5L2 26338 broad.mit.edu 37 11 55595541 55595541 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:55595541C>T uc001nhy.1 + 0 847 c.847C>T c.(847-849)Ccc>Tcc p.P283S NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA. 283 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P283P(1) breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 all_epithelial(135;0.208) AGTTGTGATTCCCATGCTGAA 0.453000 HNSCC(27;0.073) 8 8 0 0 0.000157383 0 0 ALS2CL 259173 broad.mit.edu 37 3 46718410 46718410 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:46718410C>T uc003cqa.2 - 16 2053 c.1860G>A c.(1858-1860)gaG>gaA p.E620E ALS2CL_uc003cpx.2_5'UTR|ALS2CL_uc003cpy.2_Non-coding_Transcript|ALS2CL_uc003cpz.2_Silent_p.E135E|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.E620E NM_001190707 NP_667340 Q60I27 AL2CL_HUMAN Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA. 620 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) CCAGCAGGGCCTCCTGCAGGT 0.657000 41 40 0 0 0.00148497 0 0 MGAM 8972 broad.mit.edu 37 7 141754560 141754560 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:141754560G>A uc003vwy.3 + 26 3220 c.3166G>A c.(3166-3168)Gat>Aat p.D1056N NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1056 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTAGATTTATGATCCCAACAA 0.418000 26 73 0 0 0.000781405 0 0 ZNF275 10838 broad.mit.edu 37 X 152612965 152612965 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:152612965C>T uc011myn.2 + 1 1535 c.633C>T c.(631-633)ttC>ttT p.F211F ZNF275_uc004fhg.2_Silent_p.F274F|ZNF275_uc022cht.1_Silent_p.F211F|ZNF275_uc022chu.1_5'Flank NM_001080485 NP_001073954 A6NFS0 A6NFS0_HUMAN Homo sapiens zinc finger protein 275 (ZNF275), mRNA. 274 intracellular nucleic acid binding|zinc ion binding endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCAAGTCCTTCCGAGGGGTCA 0.652000 26 19 0 0 0.00188189 0 0 FAT4 79633 broad.mit.edu 37 4 126240396 126240396 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:126240396G>A uc003ifj.4 + 0 2830 c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 944 Cadherin 9. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGCTATCAATGAAAAGAATGG 0.483000 24 40 0 0 0.00111076 0 0 SLITRK4 139065 broad.mit.edu 37 X 142717103 142717103 + Silent SNP G T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:142717103G>T uc022cfm.1 - 0 1822 c.1822C>A c.(1822-1824)Cga>Aga p.R608R SLITRK4_uc022cfl.1_Silent_p.R608R|SLITRK4_uc004fbx.3_Silent_p.R608R|SLITRK4_uc004fby.3_Silent_p.R608R NM_173078 NP_775101 Q8IW52 SLIK4_HUMAN Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA. 608 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) GGAGGACTTCGAATGGGACCC 0.423000 71 42 1.62957e-23 1.07025e-22 0.00195071 1 0 MEFV 4210 broad.mit.edu 37 16 3297184 3297184 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:3297184C>T uc002cun.1 - 4 1459 c.1419G>A c.(1417-1419)ctG>ctA p.L473L MEFV_uc021tbw.1_Silent_p.L262L|MEFV_uc021tbx.1_Silent_p.L53L|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_5'UTR|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Silent_p.L53L NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 473 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CTTGCTGCTCCAGGAAGTAGT 0.577000 59 40 0 0 0.000781405 0 0 OR8D4 338662 broad.mit.edu 37 11 123777295 123777295 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:123777295C>T uc010saa.2 + 0 157 c.157C>T c.(157-159)Cgt>Tgt p.R53C NM_001005197 NP_001005197 Q8NGM9 OR8D4_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA. 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) TAGGCTGAATCGTCAACTTCA 0.408000 28 9 0 0 0.000274275 0 0 ADH1B 125 broad.mit.edu 37 4 100234992 100234992 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:100234992G>A uc003hus.4 - 5 898 c.814C>T c.(814-816)Cgg>Tgg p.R272W ADH1B_uc003hut.4_Missense_Mutation_p.R232W|ADH1B_uc011ceh.2_Missense_Mutation_p.R117W|ADH1B_uc011cei.1_Missense_Mutation_p.R232W NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 272 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GTGTCAAGCCGACCGATGACT 0.423000 99 35 0 0 0.00195071 0 0 MYO1C 4641 broad.mit.edu 37 17 1384095 1384095 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:1384095G>A uc002fsp.3 - 5 932 c.712C>T c.(712-714)Cac>Tac p.H238Y MYO1C_uc002fsn.3_Missense_Mutation_p.H219Y|MYO1C_uc002fso.3_Missense_Mutation_p.H203Y|MYO1C_uc010vqj.1_Missense_Mutation_p.H203Y|MYO1C_uc010vqk.1_Missense_Mutation_p.H214Y NM_001080779 NP_203693 O00159 MYO1C_HUMAN Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA. 238 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane ATP binding|actin binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TAGAAGATGTGGAAGTTCCGC 0.612000 47 40 0 0 0.00148497 0 0 TDRD1 56165 broad.mit.edu 37 10 115971703 115971703 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:115971703G>A uc001lbg.1 + 13 1892 c.1739G>A c.(1738-1740)gGa>gAa p.G580E TDRD1_uc001lbf.3_Intron|TDRD1_uc001lbh.1_Missense_Mutation_p.G571E|TDRD1_uc001lbi.1_Missense_Mutation_p.G571E|TDRD1_uc010qsc.2_Intron|TDRD1_uc001lbj.3_Missense_Mutation_p.G289E NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN Homo sapiens tudor domain containing 1 (TDRD1), mRNA. 580 Tudor 2. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) GTAGATTATGGAAACTTTGAA 0.403000 5 15 0 0 0.000219431 0 0 DDX11L9 100288486 broad.mit.edu 37 1 13418 13418 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:13418G>A uc010nxq.1 + 2 497 c.181G>A c.(181-183)Gag>Aag p.E61K DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 9; CCACCACCCCGAGATCACATT 0.562000 35 10 0 0 0.00185496 0 0 LINGO4 339398 broad.mit.edu 37 1 151774583 151774583 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:151774583G>A uc001ezf.1 - 1 788 c.598C>T c.(598-600)Ctt>Ttt p.L200F LINGO4_uc021oyu.1_Missense_Mutation_p.L200F NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA. 200 integral to membrane breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGACGGGCAAGGGCTAGGCCA 0.647000 51 17 0 0 0.00121646 0 0 EPB42 2038 broad.mit.edu 37 15 43494124 43494124 + Nonsense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr15:43494124G>A uc001zrb.4 - 11 2221 c.1921C>T c.(1921-1923)Cag>Tag p.Q641* EPB42_uc001zqz.4_Nonsense_Mutation_p.Q278*|EPB42_uc001zra.4_Nonsense_Mutation_p.Q611*|EPB42_uc010udm.2_Nonsense_Mutation_p.Q533* NM_000119 NP_000110 P16452 EPB42_HUMAN Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA. 611 erythrocyte maturation|peptide cross-linking|regulation of cell shape cytoplasm|cytoskeleton|plasma membrane ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton p.Q641*(2) endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.7e-07) AGGGAGTTCTGGAGGCTGACT 0.562000 14 58 0 0 0.000781405 0 0 MUC16 94025 broad.mit.edu 37 19 9068621 9068621 + Silent SNP T A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:9068621T>A uc002mkp.3 - 2 19029 c.18825A>T c.(18823-18825)tcA>tcT p.S6275S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 6277 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.R6274L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AATTTTGAGGTGAACGAGTCA 0.483000 28 28 0 0 0.00106085 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19433041 19433041 + RNA SNP T A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr13:19433041T>A uc010tcj.1 - 0 c.13069A>T Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. ACAATGAAAATGAGCAAGTTG 0.378000 18 11 0 0 0.00136819 0 0 ZNF425 155054 broad.mit.edu 37 7 148801551 148801551 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:148801551G>A uc003wfj.3 - 3 1545 c.1412C>T c.(1411-1413)cCc>cTc p.P471L NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 471 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 50 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTCGGCGCAGGGGAAGGGCTT 0.667000 81 18 0 0 0.00074312 0 0 ZNF521 25925 broad.mit.edu 37 18 22807111 22807111 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:22807111G>A uc002kvk.2 - 3 1018 c.771C>T c.(769-771)ttC>ttT p.F257F ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.F257F|ZNF521_uc002kvl.2_Silent_p.F37F NM_015461 NP_056276 Q96K83 ZN521_HUMAN Homo sapiens zinc finger protein 521 (ZNF521), mRNA. 257 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GGTCTTCCGGGAAGTCAAAGC 0.557000 T PAX5 ALL 8 31 0 0 0.000491102 0 0 TNS3 64759 broad.mit.edu 37 7 47384617 47384617 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:47384617G>A uc003tnw.3 - 18 2829 c.2471C>T c.(2470-2472)cCc>cTc p.P824L TNS3_uc022acn.1_Missense_Mutation_p.P381L NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN Homo sapiens tensin 3 (TNS3), mRNA. 824 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 GAGGTCCTGGGGATAGCCAGG 0.502000 87 18 0 0 0.00121646 0 0 SLC27A4 10999 broad.mit.edu 37 9 131115808 131115808 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:131115808C>T uc004but.3 + 8 1597 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S SLC27A4_uc004buu.3_Intron NM_005094 NP_005085 Q6P1M0 S27A4_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA. 438 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 CGTCTGCATTCCCTGCCAGCC 0.627000 9 38 0 0 0.00170553 0 0 ASB15 142685 broad.mit.edu 37 7 123256545 123256545 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:123256545G>A uc003vku.1 + 5 580 c.288G>A c.(286-288)ctG>ctA p.L96L ASB15_uc003vkv.1_Silent_p.L96L|ASB15_uc003vkw.1_Silent_p.L96L NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 96 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AGATTGTTCTGGATGGTAAGA 0.338000 44 9 0 0 0.000442599 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129668810 129668810 + Missense_Mutation SNP G A A rs143076145 byFrequency TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:129668810G>A uc003vpi.3 - 4 580 c.553C>T c.(553-555)Cgt>Tgt p.R185C ZC3HC1_uc010lma.3_Missense_Mutation_p.R72C NM_016478 NP_057562 Q86WB0 NIPA_HUMAN Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA. 185 F-box-like. cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) CTTTGAAAACGATCTAGGAAT 0.443000 30 56 0 0 0.000781405 0 0 BSN 8927 broad.mit.edu 37 3 49689898 49689898 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:49689898C>T uc003cxe.4 + 4 3023 c.2909C>T c.(2908-2910)tCc>tTc p.S970F NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 970 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTAACGGGCTCCCCTGAGGAC 0.627000 21 23 0 0 0.00188189 0 0 ZP2 7783 broad.mit.edu 37 16 21213314 21213314 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:21213314C>T uc010bwn.1 - 11 1517 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K ZP2_uc002dii.2_Missense_Mutation_p.E440K NM_003460 NP_003451 Q05996 ZP2_HUMAN Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA. 440 ZP. binding of sperm to zona pellucida|intracellular protein transport Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) GCATGTATTTCGTTTTCATAG 0.393000 24 18 0 0 0.00152264 0 0 ZBED1 9189 broad.mit.edu 37 X 2406968 2406968 + Missense_Mutation SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:2406968A>G uc022brx.1 - 0 1793 c.1793T>C c.(1792-1794)tTc>tCc p.F598S DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.F598S|ZBED1_uc004cqg.2_Missense_Mutation_p.F598S|ZBED1_uc022brw.1_Missense_Mutation_p.F598S NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 598 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGCAGGGGGAAGAGGGCCAG 0.652000 115 66 0 0 0.000781405 0 0 DGKI 9162 broad.mit.edu 37 7 137150748 137150748 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:137150748C>T uc003vtt.3 - 26 2543 c.2542G>A c.(2542-2544)Gat>Aat p.D848N DGKI_uc003vtu.3_Missense_Mutation_p.D558N NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 848 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 AAAATCTCATCTTGGGAAATC 0.473000 99 14 0 0 0.00074312 0 0 FAM123C 205147 broad.mit.edu 37 2 131519662 131519662 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:131519662G>A uc021voy.1 + 0 17 c.17G>A c.(16-18)gGa>gAa p.G6E FAM123C_uc002trw.2_Missense_Mutation_p.G6E|FAM123C_uc010fmv.2_Missense_Mutation_p.G6E|FAM123C_uc010fms.1_Missense_Mutation_p.G6E|FAM123C_uc010fmt.1_Missense_Mutation_p.G6E|FAM123C_uc010fmu.1_Missense_Mutation_p.G6E NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 6 breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CTGAAGAGAGGAAAGACCTTC 0.622000 1 12 0 0 0.000219431 0 0 TGM3 7053 broad.mit.edu 37 20 2293587 2293587 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:2293587G>A uc002wfx.4 + 4 681 c.584G>A c.(583-585)aGg>aAg p.R195K NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 195 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) ATCTTGGATAGGAGTCTGAAT 0.468000 86 28 0 0 0.00127121 0 0 GNAI1 2770 broad.mit.edu 37 7 79818515 79818515 + Silent SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:79818515T>C uc003uhb.1 + 2 608 c.271T>C c.(271-273)Ttg>Ctg p.L91L GNAI1_uc011kgt.1_Silent_p.L39L NM_002069 NP_002060 P63096 GNAI1_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA. 91 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 19 TATGGGGAGGTTGAAGATAGA 0.408000 15 13 0 0 0.00074312 0 0 GABRA3 2556 broad.mit.edu 37 X 151393274 151393274 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:151393274G>A uc010ntk.1 - 5 835 c.595C>T c.(595-597)Ccc>Tcc p.P199S NM_000808 NP_000799 P34903 GBRA3_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA. 199 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACATCCATGGGAAAATCTTCC 0.353000 32 66 0 0 0.000781405 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103027443 103027443 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:103027443C>T uc001phn.1 + 25 4215 c.4071C>T c.(4069-4071)ggC>ggT p.G1357G DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.G1357G NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA. 1357 Stem (By similarity). Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 33 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) CCATTTTCGGCCGTGGAGCAT 0.363000 21 12 0 0 0.00136819 0 0 MFSD9 84804 broad.mit.edu 37 2 103340158 103340158 + Splice_Site SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:103340158C>T uc002tcb.2 - 5 705 c.637_splice c.e5+1 p.G213_splice MFSD9_uc010fja.2_Splice_Site|MFSD9_uc021vls.1_Splice_Site_p.G152_splice NM_032718 NP_116107 Q8NBP5 MFSD9_HUMAN Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA. 213 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 TGTCAACTTACCAGCATTGAG 0.383000 7 26 0 0 0.000878237 0 0 MAP7D3 79649 broad.mit.edu 37 X 135313883 135313883 + Missense_Mutation SNP C G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:135313883C>G uc004ezt.3 - 7 1454 c.1233G>C c.(1231-1233)gaG>gaC p.E411D MAP7D3_uc004ezs.3_Missense_Mutation_p.E376D|MAP7D3_uc011mwc.2_Missense_Mutation_p.E393D|MAP7D3_uc010nsa.2_Missense_Mutation_p.E369D NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA. 411 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) CCAGGCTCCCCTCTGGGGCTG 0.627000 92 23 0 0 0.000586117 0 0 TXNDC15 79770 broad.mit.edu 37 5 134223431 134223431 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:134223431C>T uc003lac.1 + 1 808 c.150C>T c.(148-150)caC>caT p.H50H TXNDC15_uc010jdy.1_Intron NM_024715 NP_078991 Q96J42 TXD15_HUMAN Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA. 50 cell redox homeostasis integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCCTGCTCACCCTCTCCAGG 0.562000 40 7 0 0 0.000157383 0 0 GPR158 57512 broad.mit.edu 37 10 25886796 25886796 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:25886796G>A uc001isj.3 + 10 2301 c.2241G>A c.(2239-2241)aaG>aaA p.K747K GPR158_uc001isk.3_Silent_p.K122K NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 747 integral to membrane|plasma membrane G-protein coupled receptor activity p.S746S(1) breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGTGCTCGAAGAAGGGCCTAG 0.512000 4 13 0 0 0.000422831 0 0 ABCC10 89845 broad.mit.edu 37 6 43399895 43399895 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:43399895C>T uc003ouy.1 + 2 392 c.177C>T c.(175-177)atC>atT p.I59I ABCC10_uc003ouz.1_Silent_p.I16I NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 59 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) CAGATTACATCCTACCCTGCA 0.567000 48 25 0 0 0.000720815 0 0 C1orf106 55765 broad.mit.edu 37 1 200880585 200880585 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:200880585G>A uc001gvo.3 + 8 1261 c.1219G>A c.(1219-1221)Gat>Aat p.D407N C1orf106_uc010ppm.2_Missense_Mutation_p.D322N NM_018265 NP_001136041 Q3KP66 CA106_HUMAN Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA. 407 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 CTTCAGGGTGGATTCCTTCCG 0.632000 91 93 0 0 0.000781405 0 0 C1orf55 163859 broad.mit.edu 37 1 226175730 226175730 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:226175730G>A uc001hpu.4 - 5 1054 c.1001C>T c.(1000-1002)cCc>cTc p.P334L NM_152608 NP_689821 Q6IQ49 CA055_HUMAN Homo sapiens chromosome 1 open reading frame 55 (C1orf55), mRNA. 334 central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(13)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(184;0.197) AGCCCCAGTGGGCTCCTCTTC 0.493000 49 74 0 0 0.000781405 0 0 OR13F1 138805 broad.mit.edu 37 9 107266729 107266729 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:107266729C>T uc011lvm.2 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 62 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 TGTACCTCTTCCTCAGCAATC 0.478000 26 40 0 0 0.00195071 0 0 BRWD3 254065 broad.mit.edu 37 X 79932655 79932655 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:79932655G>A uc004edt.3 - 40 5125 c.4862C>T c.(4861-4863)tCt>tTt p.S1621F BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.S1450F|BRWD3_uc004edq.3_Missense_Mutation_p.S1217F|BRWD3_uc010nmj.2_Missense_Mutation_p.S1217F|BRWD3_uc004edr.3_Missense_Mutation_p.S1291F|BRWD3_uc004eds.3_Missense_Mutation_p.S1217F|BRWD3_uc004edo.3_Missense_Mutation_p.S1217F|BRWD3_uc004edu.3_Missense_Mutation_p.S1291F|BRWD3_uc004edv.3_Missense_Mutation_p.S1217F|BRWD3_uc004edw.3_Missense_Mutation_p.S1217F|BRWD3_uc004edx.3_Missense_Mutation_p.S1217F|BRWD3_uc004edy.3_Missense_Mutation_p.S1217F|BRWD3_uc004edz.3_Missense_Mutation_p.S1291F|BRWD3_uc004eea.3_Missense_Mutation_p.S1291F|BRWD3_uc004eeb.3_Missense_Mutation_p.S1217F NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 1621 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 GTCAGAGTCAGAACCACAGGT 0.368000 14 11 0 0 0.00185496 0 0 CCNE2 9134 broad.mit.edu 37 8 95900157 95900157 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:95900157C>T uc003yhc.3 - 6 702 c.598G>A c.(598-600)Gag>Aag p.E200K CCNE2_uc003yhd.2_Missense_Mutation_p.E200K NM_057749 NP_477097 O96020 CCNE2_HUMAN Homo sapiens cyclin E2 (CCNE2), mRNA. 200 G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) GAACTTACCTCAAGTTTGGAA 0.254000 216 238 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 42080678 42080678 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:42080678G>A uc002yyq.1 - 1 515 c.63C>T c.(61-63)caC>caT p.H21H 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. 21 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) AGAGGCTGGAGTGTAGGTCTT 0.512000 50 26 0 0 0.000586117 0 0 ZNF90 7643 broad.mit.edu 37 19 20216075 20216075 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:20216075G>A uc002nor.2 + 2 315 c.176G>A c.(175-177)gGa>gAa p.G59E ZNF90_uc021url.1_Non-coding_Transcript NM_007138 NP_009069 Q03938 ZNF90_HUMAN Homo sapiens zinc finger protein 90 (ZNF90), mRNA. 59 KRAB. Golgi apparatus|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|lung(2)|ovary(1)|skin(1) 5 CTGGAGCAAGGAAAAAAACCC 0.398000 68 25 0 0 0.000720815 0 0 MST1P2 11209 broad.mit.edu 37 1 16974592 16974592 + RNA SNP C T T rs71253919 by1000genomes TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:16974592C>T uc010och.2 + 6 c.1052C>T MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. TGCCGGAACCCCGACGGCTCA 0.667000 44 9 0 0 0.000219431 0 0 PCDH19 57526 broad.mit.edu 37 X 99551284 99551284 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:99551284G>A uc010nmz.3 - 5 5114 c.3438C>T c.(3436-3438)atC>atT p.I1146I PCDH19_uc004efw.4_Silent_p.I1098I|PCDH19_uc004efx.4_Silent_p.I1099I NM_001184880 NP_001171809 Q8TAB3 PCD19_HUMAN Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA. 1146 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TTTAGAGAACGATATCCTTCA 0.483000 84 44 0 0 0.000680045 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063443 76063443 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:76063443G>A uc001oxh.1 - 4 751 c.751C>T c.(751-753)Ctc>Ttc p.L251F PRKRIR_uc021qnn.1_Missense_Mutation_p.L76F|PRKRIR_uc010rrz.1_Missense_Mutation_p.L76F NM_004705 NP_004696 O43422 P52K_HUMAN Homo sapiens protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (PRKRIR), mRNA. 251 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 ACTTCCCTGAGAGTTTCTTCT 0.448000 22 25 0 0 0.000339439 0 0 RBBP4 5928 broad.mit.edu 37 1 33138102 33138102 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:33138102C>T uc001bvr.3 + 8 1177 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C RBBP4_uc001bvs.3_Missense_Mutation_p.R339C|RBBP4_uc010ohj.2_Missense_Mutation_p.R88C|RBBP4_uc010ohk.2_Missense_Mutation_p.R305C NM_005610 NP_001128728 Q09028 RBBP4_HUMAN Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA. 340 CenH3-containing nucleosome assembly at centromere|DNA replication|cell cycle|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NURF complex|NuRD complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) TGGTACTGATCGCAGACTGAA 0.358000 16 59 0 0 0.000781405 0 0 ODZ4 26011 broad.mit.edu 37 11 78412905 78412905 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:78412905C>T uc001ozl.4 - 27 5216 c.4753G>A c.(4753-4755)Gag>Aag p.E1585K NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA. 1585 signal transduction integral to membrane breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 AGATAGAGCTCCTGGTCAATT 0.522000 57 60 0 0 0.000781405 0 0 MYOM1 8736 broad.mit.edu 37 18 3188889 3188889 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:3188889C>T uc002klp.3 - 3 962 c.628G>A c.(628-630)Gca>Aca p.A210T MYOM1_uc002klq.3_Missense_Mutation_p.A210T NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 210 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T209T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 TGCCTGGATGCCGTGGACTGC 0.522000 9 33 0 0 0.000692331 0 0 SYBU 55638 broad.mit.edu 37 8 110655054 110655054 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:110655054G>A uc010mcp.3 - 2 494 c.132C>T c.(130-132)gcC>gcT p.A44A SYBU_uc003yni.4_Silent_p.A41A|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Silent_p.A44A|SYBU_uc010mco.3_Silent_p.A43A|SYBU_uc003ynl.4_Silent_p.A43A|SYBU_uc010mcq.3_Silent_p.A44A|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Silent_p.A44A|SYBU_uc003ynm.4_Silent_p.A43A|SYBU_uc003ynn.4_Silent_p.A43A|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Silent_p.A44A|SYBU_uc010mcu.3_Silent_p.A43A|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Silent_p.A44A|AX748380_uc003ynq.1_5'Flank NM_001099752 NP_001093225 Q9NX95 SYBU_HUMAN Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA. 44 Ser-rich.|Sufficient for interaction with KIF5B. Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GAGACTCAGAGGCTGGGGACA 0.547000 64 17 0 0 0.000958276 0 0 MRC2 9902 broad.mit.edu 37 17 60767563 60767563 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:60767563G>A uc002jad.3 + 25 4191 c.3789G>A c.(3787-3789)caG>caA p.Q1263Q MRC2_uc002jae.3_Silent_p.Q334Q|MRC2_uc002jaf.3_Silent_p.Q129Q NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN Homo sapiens mannose receptor, C type 2 (MRC2), mRNA. 1263 endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GCTGTCCCCAGGGACTGGCAG 0.637000 8 18 0 0 0.00074312 0 0 ADAMTS19 171019 broad.mit.edu 37 5 128990052 128990052 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:128990052C>T uc003kvb.1 + 13 2212 c.2212C>T c.(2212-2214)Cta>Tta p.L738L ADAMTS19_uc010jdh.1_Non-coding_Transcript NM_133638 NP_598377 Q8TE59 ATS19_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA. 738 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.L737L(1) NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6) 91 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) GCCTATTCTTCTATCAGAAAA 0.368000 14 23 0 0 0.000878237 0 0 CSMD1 64478 broad.mit.edu 37 8 3046514 3046514 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:3046514G>A uc022aqr.1 - 34 5808 c.5418C>T c.(5416-5418)ttC>ttT p.F1806F CSMD1_uc011kwj.2_Silent_p.F1199F|CSMD1_uc003wqe.3_Silent_p.F963F|CSMD1_uc010lrg.3_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1807 CUB 11. integral to membrane p.F1535F(1)|p.F1806F(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCGTTGAGTGAAATTGCCAC 0.458000 15 19 0 0 0.00188189 0 0 NOS1 4842 broad.mit.edu 37 12 117715816 117715816 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:117715816G>A uc001twn.2 - 8 2323 c.1612C>T c.(1612-1614)Ctc>Ttc p.L538F NOS1_uc021ren.1_Missense_Mutation_p.L202F|NOS1_uc021reo.1_Missense_Mutation_p.L202F|NOS1_uc001twm.2_Missense_Mutation_p.L538F NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 538 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) ATCTGGAAGAGCTCAGGGTCA 0.592000 17 37 0 0 0.00170553 0 0 PRB1 5542 broad.mit.edu 37 12 11506582 11506582 + Splice_Site SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:11506582C>T uc001qzw.1 - 3 490 c.453_splice c.e3+1 p.P151_splice PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 151 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGATCAGGGACTTCG 0.607000 67 14 0 0 0.000295444 0 0 MUC16 94025 broad.mit.edu 37 19 9046211 9046211 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:9046211C>T uc002mkp.3 - 4 35624 c.35420G>A c.(35419-35421)gGt>gAt p.G11807D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11809 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 AGTCTCTGCACCAGGTCTAAT 0.473000 15 19 0 0 0.00188189 0 0 PARP3 10039 broad.mit.edu 37 3 51980193 51980193 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:51980193C>T uc003dby.3 + 8 1481 c.1110C>T c.(1108-1110)ttC>ttT p.F370F PARP3_uc003dbz.3_Silent_p.F377F NM_005485 NP_005476 Q9Y6F1 PARP3_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 3 (PARP3), transcript variant 2, mRNA. 370 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AAGACAGATTCCAGGCCCACT 0.592000 77 31 0 0 0.000491102 0 0 GEMIN5 25929 broad.mit.edu 37 5 154291305 154291305 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:154291305G>A uc003lvx.3 - 14 2232 c.2149C>T c.(2149-2151)Cat>Tat p.H717Y GEMIN5_uc011ddk.1_Missense_Mutation_p.H716Y NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA. 717 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GGCCGGGAATGATCTTGCATG 0.453000 61 24 0 0 0.00127121 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531956 140531956 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:140531956C>T uc003lir.3 + 0 2118 c.2118C>T c.(2116-2118)ttC>ttT p.F706F NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN Homo sapiens protocadherin beta 6 (PCDHB6), mRNA. 706 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCTCCTGTTCGTGGCGGTGC 0.682000 88 98 0 0 0.000781405 0 0 RHCG 51458 broad.mit.edu 37 15 90021159 90021159 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr15:90021159G>A uc002bnz.2 - 5 908 c.884C>T c.(883-885)aCc>aTc p.T295I RHCG_uc002boa.2_Non-coding_Transcript|RHCG_uc010bnq.1_Missense_Mutation_p.T179I NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Homo sapiens Rh family, C glycoprotein (RHCG), mRNA. 295 amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.T295T(2) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Lung NSC(78;0.0237)|all_lung(78;0.0478) CTCAGCAGCGGTACCCACGGC 0.617000 7 20 0 0 0.00121646 0 0 ABCC3 8714 broad.mit.edu 37 17 48741203 48741203 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:48741203G>A uc002isl.3 + 8 1240 c.1160G>A c.(1159-1161)gGt>gAt p.G387D ABCC3_uc002isk.4_Missense_Mutation_p.G387D|ABCC3_uc002ism.3_Missense_Mutation_p.G69D NM_003786 NP_003777 O15438 MRP3_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA. 387 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) GGGATCATGGGTGTCATCTAC 0.547000 23 26 0 0 0.000878237 0 0 OR4K5 79317 broad.mit.edu 37 14 20389203 20389203 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:20389203G>A uc010tkw.2 + 0 438 c.438G>A c.(436-438)atG>atA p.M146I NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTGGTAATGATCTCCTGGG 0.438000 10 32 0 0 0.00178596 0 0 LDHC 3948 broad.mit.edu 37 11 18472604 18472604 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:18472604C>T uc001mon.4 + 7 1041 c.929C>T c.(928-930)tCt>tTt p.S310F LDHC_uc001mom.4_Missense_Mutation_p.S310F|LDHC_uc009yhp.3_3'UTR|LDHC_uc001moo.4_Missense_Mutation_p.S194F|LDHC_uc009yhq.3_Non-coding_Transcript|LDHC_uc009yhr.3_3'UTR NM_017448 NP_059144 P07864 LDHC_HUMAN Homo sapiens lactate dehydrogenase C (LDHC), transcript variant 2, mRNA. 310 glycolysis cytoplasm L-lactate dehydrogenase activity|binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 NADH(DB00157) AACTTGAATTCTGAGGAGGAG 0.368000 101 36 0 0 0.00195071 0 0 PARP4 143 broad.mit.edu 37 13 25021281 25021281 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr13:25021281G>A uc001upl.3 - 25 3264 c.3158C>T c.(3157-3159)tCt>tTt p.S1053F NM_006437 NP_006428 Q9UKK3 PARP4_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA. 1053 DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) GACGGAGACAGAGTGGCAACT 0.473000 63 8 0 0 0.000422831 0 0 ZNF208 7757 broad.mit.edu 37 19 22155678 22155678 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:22155678G>A uc021urr.1 - 3 2307 c.2158C>T c.(2158-2160)Ccc>Tcc p.P720S ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CATTTGTAGGGTTTCTCTCCA 0.378000 6 9 0 0 0.000673444 0 0 C12orf63 374467 broad.mit.edu 37 12 97051808 97051808 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:97051808C>T uc021rcc.1 + 3 602 c.524C>T c.(523-525)tCt>tTt p.S175F Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 175 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GTATTAAAATCTCTGGAAGTT 0.353000 21 41 0 0 0.000437636 0 0 CACNA1E 777 broad.mit.edu 37 1 181689945 181689945 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:181689945C>T uc009wxt.3 + 14 2105 c.1910C>T c.(1909-1911)tCg>tTg p.S637L CACNA1E_uc001gow.3_Missense_Mutation_p.S637L|CACNA1E_uc009wxs.3_Missense_Mutation_p.S637L NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 637 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity p.S637S(1) 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 GGGACTCCTTCGGCAAATTTT 0.433000 9 6 0 0 0.000157383 0 0 TAF1L 138474 broad.mit.edu 37 9 32630827 32630827 + Missense_Mutation SNP C A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:32630827C>A uc003zrg.1 - 0 4841 c.4751G>T c.(4750-4752)cGg>cTg p.R1584L AX747113_uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA. 1584 Bromo 2. male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) AAAACTCTCCCGACTCTGATA 0.378000 32 19 4.96729e-08 3.25463e-07 0.00121646 1 0 TACC2 10579 broad.mit.edu 37 10 123843518 123843518 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:123843518G>A uc001lfv.3 + 3 1863 c.1503G>A c.(1501-1503)ttG>ttA p.L501L TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.L501L|TACC2_uc010qtv.2_Silent_p.L501L NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 501 Pro-rich. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GAGAGCACTTGAACACGGAGC 0.602000 20 65 0 0 0.000781405 0 0 SLC32A1 140679 broad.mit.edu 37 20 37353665 37353665 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:37353665G>A uc002xjc.3 + 0 561 c.298G>A c.(298-300)Gac>Aac p.D100N NM_080552 NP_542119 Q9H598 VIAAT_HUMAN Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA. 100 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CGGCTCCAAGGACCAGGTGGG 0.672000 50 17 0 0 0.00121646 0 0 ZNF556 80032 broad.mit.edu 37 19 2877583 2877583 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:2877583G>A uc002lwp.1 + 3 714 c.627G>A c.(625-627)ggG>ggA p.G209G ZNF556_uc002lwq.3_Silent_p.G208G NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN Homo sapiens zinc finger protein 556 (ZNF556), mRNA. 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7) 31 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) AATCTTGCGGGAAGACATTTC 0.488000 60 17 0 0 0.00074312 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30688467 30688467 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:30688467G>A uc010gvu.3 - 8 1530 c.1445C>T c.(1444-1446)gCc>gTc p.A482V TBC1D10A_uc003ahd.3_5'Flank|TBC1D10A_uc003ahf.3_Intron|TBC1D10A_uc003ahg.3_Intron|TBC1D10A_uc003ahh.3_Intron|TBC1D10A_uc003ahi.3_Intron|TBC1D10A_uc010gvq.3_Intron|TBC1D10A_uc010gvr.3_5'Flank|TBC1D10A_uc010gvs.2_5'Flank|TBC1D10A_uc003ahk.4_Missense_Mutation_p.A475V NM_001204240 NP_001191169 Q9BXI6 TB10A_HUMAN Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 1, mRNA. 475 intracellular|microvillus PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 GTCCTTGGGGGCTGAGTCCTT 0.632000 57 76 0 0 0.000781405 0 0 PLA2G2D 26279 broad.mit.edu 37 1 20442053 20442053 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:20442053C>T uc001bcz.3 - 2 256 c.239G>A c.(238-240)aGc>aAc p.S80N PLA2G2D_uc009vpo.3_Intron NM_012400 NP_036532 Q9UNK4 PA2GD_HUMAN Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA. 80 S -> G (in dbSNP:rs584367). inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity p.C79C(1) endometrium(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTTGTAGATGCTGCACCCCTG 0.582000 Multiple Myeloma(11;0.12) 21 52 0 0 0.000781405 0 0 DSCAM 1826 broad.mit.edu 37 21 41414575 41414575 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:41414575G>A uc002yyq.1 - 31 5861 c.5409C>T c.(5407-5409)tcC>tcT p.S1803S 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. 1803 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) CACTTTCTGTGGAGACCATGC 0.537000 19 13 0 0 0.000219431 0 0 NLRP12 91662 broad.mit.edu 37 19 54314011 54314011 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:54314011G>A uc002qcj.4 - 2 1122 c.902C>T c.(901-903)cCt>cTt p.P301L NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.P301L|NLRP12_uc002qci.4_Missense_Mutation_p.P301L|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.P301L NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 301 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GTGGAAAGAAGGCTTGAGCTC 0.587000 24 22 0 0 0.00047179 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481216 140481216 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:140481216C>T uc003lio.3 + 0 983 c.983C>T c.(982-984)tCc>tTc p.S328F BC016751_uc003lin.3_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 328 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGGCCTATCCGGAAAGTCT 0.453000 66 26 0 0 0.000878237 0 0 ATP1A3 478 broad.mit.edu 37 19 42482129 42482129 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:42482129G>A uc002osh.3 - 13 2056 c.1902C>T c.(1900-1902)atC>atT p.I634I ATP1A3_uc010xwf.2_Silent_p.I645I|ATP1A3_uc010xwg.2_Silent_p.I604I|ATP1A3_uc002osg.3_Silent_p.I634I|ATP1A3_uc010xwh.2_Silent_p.I647I P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 634 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GCCGGGCGGCGATGTCCTCCA 0.632000 60 23 0 0 0.00047179 0 0 SCN11A 11280 broad.mit.edu 37 3 38938701 38938701 + Silent SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:38938701A>G uc021wvy.1 - 13 2237 c.2038T>C c.(2038-2040)Tta>Cta p.L680L SCN11A_uc010hhn.1_5'Flank NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 680 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GATTTGGCTAACTTGAAGACC 0.418000 10 17 0 0 0.00121646 0 0 TLR6 10333 broad.mit.edu 37 4 38829302 38829302 + Missense_Mutation SNP A C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:38829302A>C uc010ifg.2 - 1 1914 c.1793T>G c.(1792-1794)tTg>tGg p.L598W TLR6_uc003gtm.3_Missense_Mutation_p.L598W NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN Homo sapiens toll-like receptor 6 (TLR6), mRNA. 598 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AGTCACAGCCAACACCAGCAT 0.522000 42 54 0 0 0.000781405 0 0 PRSS21 10942 broad.mit.edu 37 16 2871404 2871404 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:2871404G>A uc002crt.3 + 5 849 c.743G>A c.(742-744)gGa>gAa p.G248E PRSS21_uc002crr.3_Missense_Mutation_p.G234E|PRSS21_uc002crs.3_Missense_Mutation_p.G246E NM_006799 NP_006790 Q9Y6M0 TEST_HUMAN Homo sapiens protease, serine, 21 (testisin) (PRSS21), transcript variant 1, mRNA. 248 Peptidase S1. proteolysis anchored to membrane|cytoplasm|membrane fraction|plasma membrane serine-type endopeptidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2) 15 AACAAGAATGGACTGTGGTAT 0.617000 18 8 0 0 0.000157383 0 0 ZCCHC3 85364 broad.mit.edu 37 20 279320 279320 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:279320C>T uc002wdf.3 + 0 1117 c.1093C>T c.(1093-1095)Cct>Tct p.P365S NM_033089 NP_149080 Q9NUD5 ZCHC3_HUMAN Homo sapiens zinc finger, CCHC domain containing 3 (ZCCHC3), mRNA. 365 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.149) GCACCTGAGCCCTTACTGCCG 0.612000 42 19 0 0 0.00188189 0 0 CYP2C8 1558 broad.mit.edu 37 10 96796988 96796988 + Missense_Mutation SNP T A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:96796988T>A uc001kkb.3 - 8 1465 c.1370A>T c.(1369-1371)aAc>aTc p.N457I CYP2C8_uc010qoa.2_Missense_Mutation_p.N387I|CYP2C8_uc010qoc.2_Missense_Mutation_p.N355I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.N371I|CYP2C8_uc021pwl.1_Missense_Mutation_p.N387I NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 457 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) AGATTTCAGGTTAAAGTTCTG 0.393000 5 14 0 0 0.00185496 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658002 46658002 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:46658002C>T uc003bhh.3 - 0 1218 c.1218G>A c.(1216-1218)ctG>ctA p.L406L NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 406 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) AGGGCCATTTCAGATTGGCCT 0.512000 75 74 0 0 0.000781405 0 0 LPHN1 22859 broad.mit.edu 37 19 14271494 14271494 + Nonsense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:14271494G>A uc010xnn.2 - 7 1836 c.1540C>T c.(1540-1542)Cag>Tag p.Q514* LPHN1_uc010xno.2_Nonsense_Mutation_p.Q509*|LOC100507373_uc002myf.3_Intron NM_001008701 NP_001008701 O94910 LPHN1_HUMAN Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA. 514 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GGTAGACACTGGAAGGAGGCA 0.602000 18 14 0 0 0.000308642 0 0 POLQ 10721 broad.mit.edu 37 3 121251895 121251895 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:121251895G>A uc003eee.4 - 5 1031 c.902C>T c.(901-903)tCc>tTc p.S301F NM_199420 NP_955452 O75417 DPOLQ_HUMAN Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA. 301 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) GTCATATATGGAATTTCCAAC 0.398000 DNA polymerases (catalytic subunits) 47 13 0 0 0.000308642 0 0 DNAH9 1770 broad.mit.edu 37 17 11778270 11778270 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:11778270C>T uc002gne.3 + 52 10315 c.10247C>T c.(10246-10248)cCc>cTc p.P3416L DNAH9_uc010coo.3_Missense_Mutation_p.P2710L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 3416 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CACCAGACTCCCATTCCAGTC 0.557000 69 23 0 0 0.000720815 0 0 SLC6A20 54716 broad.mit.edu 37 3 45817403 45817403 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:45817403G>A uc011bai.2 - 3 556 c.432C>T c.(430-432)tcC>tcT p.S144S SLC6A20_uc011baj.2_Silent_p.S144S NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 144 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AGTACTGTGTGGAGGACGCCT 0.592000 116 40 0 0 0.000437636 0 0 OR2A5 393046 broad.mit.edu 37 7 143747860 143747860 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:143747860G>A uc011ktw.2 + 0 366 c.366G>A c.(364-366)cgG>cgA p.R122R NM_012365 NP_036497 Q96R48 OR2A5_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA. 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R122L(1)|p.R122R(1) cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 38 Melanoma(164;0.0783) CCTACGATCGGTACATGGCTA 0.473000 92 184 0 0 0.000781405 0 0 TOB2 10766 broad.mit.edu 37 22 41833051 41833051 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:41833051G>A uc003azz.1 - 1 1006 c.299C>T c.(298-300)tCc>tTc p.S100F TOB2_uc021wqf.1_Missense_Mutation_p.S100F NM_016272 NP_057356 Q14106 TOB2_HUMAN Homo sapiens transducer of ERBB2, 2 (TOB2), mRNA. 100 female gamete generation|negative regulation of cell proliferation cytoplasm|nucleus cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 AATCTGGTAGGACACCTCAAA 0.587000 31 34 0 0 0.000814825 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5232487 5232487 + Missense_Mutation SNP C G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:5232487C>G uc003jdl.3 + 11 1846 c.1708C>G c.(1708-1710)Cgg>Ggg p.R570G ADAMTS16_uc003jdk.1_Missense_Mutation_p.R570G|ADAMTS16_uc010itk.1_5'Flank NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 570 Disintegrin. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 TTAGTGGTGCCGGGGAGGACA 0.507000 36 21 0 0 0.000295444 0 0 SCN10A 6336 broad.mit.edu 37 3 38793763 38793763 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:38793763C>T uc003ciq.3 - 10 1702 c.1702G>A c.(1702-1704)Gaa>Aaa p.E568K NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 568 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGTTGGTGTTCATCTTCTCCA 0.607000 33 21 0 0 0.000375601 0 0 ABCA11P 79963 broad.mit.edu 37 4 420497 420497 + Missense_Mutation SNP G A A rs139749429 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:420497G>A uc003gae.3 - 4 944 c.409C>T c.(409-411)Cgt>Tgt p.R137C ABCA11P_uc003gac.2_Missense_Mutation_p.R86C|ABCA11P_uc003gad.2_Non-coding_Transcript|ABCA11P_uc011buv.2_3'UTR|ABCA11P_uc010ibd.2_Missense_Mutation_p.R137C Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene (ABCA11P), non-coding RNA. AACACAAAACGAAACATTTCT 0.383000 17 18 0 0 0.00121646 0 0 HOXB8 3218 broad.mit.edu 37 17 46691956 46691956 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:46691956G>A uc002inw.3 - 0 346 c.111C>T c.(109-111)acC>acT p.T37T NM_024016 NP_076921 P17481 HXB8_HUMAN Homo sapiens homeobox B8 (HOXB8), mRNA. 37 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 CGTACACCACGGTGGGTCGGC 0.622000 4 10 0 0 0.00136819 0 0 OR51S1 119692 broad.mit.edu 37 11 4870293 4870293 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:4870293C>T uc010qyo.2 - 0 146 c.146G>A c.(145-147)gGa>gAa p.G49E NM_001004758 NP_001004758 Q8NGJ8 O51S1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA. 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGTGCCATTTCCCAGTGCAGA 0.567000 20 19 0 0 0.000958276 0 0 C15orf2 23742 broad.mit.edu 37 15 24921404 24921404 + Silent SNP A C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr15:24921404A>C uc001ywo.3 + 0 864 c.390A>C c.(388-390)ccA>ccC p.P130P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 130 cell differentiation|multicellular organismal development|spermatogenesis 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) TGCCTTCACCACGTGAGCCGG 0.632000 16 34 0 0 0.00128727 0 0 MXRA5 25878 broad.mit.edu 37 X 3238193 3238193 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:3238193T>C uc004crg.4 - 4 5690 c.5533A>G c.(5533-5535)Aaa>Gaa p.K1845E NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 1845 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) GACCAGAATTTGGATGCAGGA 0.517000 43 45 0 0 0.000781405 0 0 TRPM2 7226 broad.mit.edu 37 21 45802643 45802643 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:45802643C>T uc010gpt.1 + 8 1358 c.1258C>T c.(1258-1260)Cgg>Tgg p.R420W TRPM2_uc002zet.1_Missense_Mutation_p.R420W|TRPM2_uc002zeu.1_Missense_Mutation_p.R420W|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R420W|TRPM2_uc002zex.1_Missense_Mutation_p.R206W NM_003307 NP_003298 O94759 TRPM2_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA. 420 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GACTGTCTTCCGGGAAGGCAA 0.577000 20 10 0 0 0.000673444 0 0 BRWD3 254065 broad.mit.edu 37 X 79960305 79960305 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:79960305C>T uc004edt.3 - 22 2856 c.2593G>A c.(2593-2595)Gga>Aga p.G865R BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.G694R|BRWD3_uc004edq.3_Missense_Mutation_p.G461R|BRWD3_uc010nmj.2_Missense_Mutation_p.G461R|BRWD3_uc004edr.3_Missense_Mutation_p.G535R|BRWD3_uc004eds.3_Missense_Mutation_p.G461R|BRWD3_uc004edo.3_Missense_Mutation_p.G461R|BRWD3_uc004edu.3_Missense_Mutation_p.G535R|BRWD3_uc004edv.3_Missense_Mutation_p.G461R|BRWD3_uc004edw.3_Missense_Mutation_p.G461R|BRWD3_uc004edx.3_Missense_Mutation_p.G461R|BRWD3_uc004edy.3_Missense_Mutation_p.G461R|BRWD3_uc004edz.3_Missense_Mutation_p.G535R|BRWD3_uc004eea.3_Missense_Mutation_p.G535R|BRWD3_uc004eeb.3_Missense_Mutation_p.G461R NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA. 865 p.A864T(1)|p.G865G(1) breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AAATTTATTCCAGCATCTGCT 0.348000 37 30 0 0 0.000339439 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858383 9858383 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:9858383C>T uc010uym.2 - 13 3328 c.3018G>A c.(3016-3018)gcG>gcA p.A1006A GRIN2A_uc002czo.4_Silent_p.A1006A|GRIN2A_uc010uyn.2_Silent_p.A849A|GRIN2A_uc002czr.4_Silent_p.A1006A NM_000833 NP_001127879 Q12879 NMDE1_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA. 1006 response to ethanol N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.A1006A(2) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTCTAGAGTTCGCTTTGGATT 0.507000 23 21 0 0 0.00152264 0 0 PDS5A 23244 broad.mit.edu 37 4 39881417 39881417 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:39881417C>T uc003guv.4 - 17 2463 c.1923G>A c.(1921-1923)ggG>ggA p.G641G NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA. 641 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 CATCTGCTGTCCCCTCTATTG 0.358000 44 23 0 0 0.000409698 0 0 LOC399753 399753 broad.mit.edu 37 10 49218553 49218553 + Missense_Mutation SNP T C C rs77581903 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:49218553T>C uc001jgd.3 - 7 1745 c.1586A>G c.(1585-1587)cAt>cGt p.H529R DQ588224_uc001jge.1_5'Flank Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA. ATATTTGGAATGGATCCAGCG 0.567000 19 4 0 0 0.00116845 0 0 NMD3 51068 broad.mit.edu 37 3 160939835 160939835 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:160939835C>T uc003feb.1 + 1 153 c.34C>T c.(34-36)Cct>Tct p.P12S NMD3_uc003fec.3_Missense_Mutation_p.P12S|NMD3_uc003fed.1_Missense_Mutation_p.P12S NM_015938 NP_057022 Q96D46 NMD3_HUMAN Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA. 12 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) CGACCGCAGCCCTGGACACAT 0.423000 37 33 0 0 0.000953801 0 0 BV13S6J2.1 0 broad.mit.edu 37 7 142250914 142250914 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:142250914C>T uc011ksf.2 - 1 148 c.133G>A c.(133-135)Gat>Aat p.D45N TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron|BV13S6J2.1_uc022ano.1_5'Flank SubName: Full=V_segment translation product; Flags: Fragment; TGTCTCATATCCTGGGTACAT 0.498000 25 55 0 0 0.000781405 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213341253 213341254 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:213341253_213341254CC>TT uc010ptr.2 + 6 1047_1048 c.888_889CC>TT c.(886-891)tacctc>taTTtc p.L297F RPS6KC1_uc001hkd.3_Missense_Mutation_p.L285F|RPS6KC1_uc010pts.2_Missense_Mutation_p.L116F|RPS6KC1_uc010ptt.2_Missense_Mutation_p.L116F|RPS6KC1_uc010ptu.2_Missense_Mutation_p.L116F|RPS6KC1_uc010ptv.2_5'UTR|RPS6KC1_uc001hke.3_Missense_Mutation_p.L116F NM_012424 NP_036556 Q96S38 KS6C1_HUMAN Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA. 297 MIT. cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CAGCCGAGTACCTCATGCGGGC 0.401000 18 14 0 0 6.4e-05 0 0 GRM8 2918 broad.mit.edu 37 7 126883108 126883108 + Missense_Mutation SNP G A A rs149971619 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:126883108G>A uc003vlr.2 - 0 462 c.151C>T c.(151-153)Ctc>Ttc p.L51F GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.L51F|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 51 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) ACAGGGAAGAGACCCCCCAAA 0.522000 HNSCC(24;0.065) 50 11 0 0 0.000978159 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145969654 145969654 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:145969654C>T uc011dbv.2 - 10 1625 c.1362G>A c.(1360-1362)ggG>ggA p.G454G PPP2R2B_uc010jgm.3_Silent_p.G385G|PPP2R2B_uc003loe.3_Silent_p.G396G|PPP2R2B_uc003log.4_Silent_p.G396G|PPP2R2B_uc003lof.4_Silent_p.G396G|PPP2R2B_uc003loi.4_Silent_p.G399G|PPP2R2B_uc003loh.4_Silent_p.G396G|PPP2R2B_uc003lok.4_Silent_p.G385G|PPP2R2B_uc003loj.4_Silent_p.G376G|PPP2R2B_uc011dbu.2_Silent_p.G402G NM_181675 NP_858061 Q00005 2ABB_HUMAN Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA. 396 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.G454G(1)|p.G399G(1)|p.G396G(1)|p.G385G(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGCTTGCCCCCCACACACA 0.498000 29 43 0 0 0.000680045 0 0 CATSPERB 79820 broad.mit.edu 37 14 92174546 92174546 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:92174546G>A uc001xzs.1 - 5 545 c.405C>T c.(403-405)atC>atT p.I135I NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA. 135 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) GATGTAAAGTGATTCTTACTA 0.308000 11 15 0 0 0.000958276 0 0 DGCR8 54487 broad.mit.edu 37 22 20097562 20097562 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:20097562G>A uc002zri.3 + 13 2682 c.2253G>A c.(2251-2253)aaG>aaA p.K751K DGCR8_uc010grz.3_Silent_p.K718K|DGCR8_uc002zrj.3_Silent_p.K394K NM_022720 NP_073557 Q8WYQ5 DGCR8_HUMAN Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA. 751 Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) AGACTCGAAAGAAGCCCAAGA 0.647000 49 14 0 0 0.000308642 0 0 ABCA8 10351 broad.mit.edu 37 17 66878810 66878810 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:66878810C>T uc002jhq.3 - 29 4098 c.3758G>A c.(3757-3759)gGa>gAa p.G1253E ABCA8_uc002jhp.3_Missense_Mutation_p.G1213E|ABCA8_uc010wqq.2_Missense_Mutation_p.G1248E NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1213 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) TTCATCCTCTCCTTCTGGTTC 0.338000 53 21 0 0 0.00152264 0 0 EPHB3 2049 broad.mit.edu 37 3 184295460 184295460 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:184295460C>T uc003foz.3 + 6 1931 c.1494C>T c.(1492-1494)gcC>gcT p.A498A NM_004443 NP_004434 P54753 EPHB3_HUMAN Homo sapiens EPH receptor B3 (EPHB3), mRNA. 498 Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_cancers(143;1.89e-10)|Ovarian(172;0.0339) Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22) AGGGCATCGCCTCCACAGTGA 0.657000 50 21 0 0 0.000295444 0 0 DMRT2 10655 broad.mit.edu 37 9 1056230 1056230 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:1056230C>T uc003zha.3 + 3 843 c.643C>T c.(643-645)Cca>Tca p.P215S DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.P59S|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.P215S NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA. 215 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(1)|prostate(2) 4 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) TCGCCCCATTCCAGCGGAGAC 0.448000 21 65 0 0 0.000781405 0 0 FRYL 285527 broad.mit.edu 37 4 48525101 48525101 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:48525101G>A uc003gyh.1 - 53 7943 c.7338C>T c.(7336-7338)ttC>ttT p.F2446F FRYL_uc003gyf.1_5'Flank|FRYL_uc003gyg.1_Silent_p.F1142F|FRYL_uc003gyi.1_Silent_p.F1334F|FRYL_uc003gyj.1_Silent_p.F741F NM_015030 NP_055845 O94915 FRYL_HUMAN Homo sapiens FRY-like (FRYL), mRNA. 2446 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 CTCCCCAGTTGAAATTGTCCA 0.448000 9 13 0 0 0.000308642 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 40716 40716 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrGL000218.1:40716C>T uc011mfn.2 - 2 303 c.214G>A c.(214-216)Gtg>Atg p.V72M LOC100233156_uc003jah.2_Missense_Mutation_p.V72M Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. GCCAGGTTCACGGCGTCACAC 0.672000 16 5 0 0 8.12818e-05 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 118572 118572 + RNA SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrGL000205.1:118572G>A uc002kgk.4 + 0 c.1950G>A Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. GGCCTTTTTAGCTGATTCCGG 0.398000 28 7 0 0 8.12818e-05 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766044 27766044 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:27766044C>T uc011mjy.2 + 0 1119 c.1032C>T c.(1030-1032)ttC>ttT p.F344F NM_001136533 NP_001130005 Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA. central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 CTGTTGTCTTCACCATTGACC 0.483000 30 22 0 0 0.000878237 0 0 POLR2H 5437 broad.mit.edu 37 3 184086028 184086028 + Missense_Mutation SNP T A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:184086028T>A uc003fok.2 + 4 486 c.399T>A c.(397-399)caT>caA p.H133Q NM_006232 NP_006223 P52434 RPAB3_HUMAN Homo sapiens polymerase (RNA) II (DNA directed) polypeptide H (POLR2H), mRNA. 133 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA-directed RNA polymerase activity|protein binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACAACCTGCATGGATTCGAGG 0.567000 52 64 0 0 0.000781405 0 0 ARSJ 79642 broad.mit.edu 37 4 114823685 114823685 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:114823685G>A uc003ibq.1 - 1 2433 c.1545C>T c.(1543-1545)atC>atT p.I515I ARSJ_uc010imu.1_Silent_p.I515I|ARSJ_uc010imv.1_Silent_p.I343I NM_024590 NP_078866 Q5FYB0 ARSJ_HUMAN Homo sapiens arylsulfatase family, member J (ARSJ), mRNA. 515 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) GCTTCTTCACGATTCCTGGAT 0.502000 40 11 0 0 0.000978159 0 0 MEP1A 4224 broad.mit.edu 37 6 46761430 46761430 + Missense_Mutation SNP A T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:46761430A>T uc011dwh.1 + 1 214 c.206A>T c.(205-207)aAg>aTg p.K69M MEP1A_uc010jzh.1_Missense_Mutation_p.K41M|MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwi.1_5'UTR NM_005588 NP_005579 Q16819 MEP1A_HUMAN Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA. 41 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GGTGAACAGAAGGATATTTCA 0.323000 16 5 0 0 0.000274275 0 0 CD47 961 broad.mit.edu 37 3 107779599 107779599 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:107779599G>A uc003dwt.1 - 3 771 c.591C>T c.(589-591)ttC>ttT p.F197F CD47_uc003dwv.1_Silent_p.F197F NM_001777 NP_001768 Q08722 CD47_HUMAN Homo sapiens CD47 molecule (CD47), transcript variant 1, mRNA. 197 blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion integral to plasma membrane protein binding|thrombospondin receptor activity endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 9 OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118) TACCTGGGACGAAAAGAATGG 0.458000 16 7 0 0 0.000157383 0 0 RNF24 11237 broad.mit.edu 37 20 3944649 3944649 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:3944649G>A uc002wkj.2 - 1 156 c.16C>T c.(16-18)Cca>Tca p.P6S RNF24_uc002wkh.2_Missense_Mutation_p.P6S|RNF24_uc002wki.2_Missense_Mutation_p.P27S NM_001134337 NP_009150 Q9Y225 RNF24_HUMAN Homo sapiens ring finger protein 24 (RNF24), transcript variant 2, mRNA. 6 Golgi membrane|integral to membrane zinc ion binding large_intestine(1)|upper_aerodigestive_tract(1) 2 TTGTAATGTGGGAAATCCGAG 0.378000 31 13 0 0 0.00185496 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790092 133790092 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:133790092C>T uc001qgx.4 - 17 3759 c.3528G>A c.(3526-3528)cgG>cgA p.R1176R NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA. 1176 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TAGGCCGGGGCCGGGGCTGGG 0.701000 38 23 0 0 0.000295444 0 0 TFE3 7030 broad.mit.edu 37 X 48896763 48896763 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:48896763C>T uc004dmb.3 - 2 641 c.403G>A c.(403-405)Gaa>Aaa p.E135K TFE3_uc004dmc.3_Missense_Mutation_p.E30K|TFE3_uc004dme.1_Non-coding_Transcript NM_006521 NP_006512 P19532 TFE3_HUMAN Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. 135 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 GCGGCCTGTTCCCGACGCTCA 0.662000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 10 6 0 0 8.12818e-05 0 0 RASSF6 166824 broad.mit.edu 37 4 74447996 74447996 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:74447996G>A uc003hhd.1 - 6 798 c.675C>T c.(673-675)ttC>ttT p.F225F RASSF6_uc003hhc.1_Silent_p.F193F|RASSF6_uc010iik.1_Intron|RASSF6_uc010iil.1_Silent_p.F181F NM_201431 NP_803876 Q6ZTQ3 RASF6_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA. 225 Ras-associating. apoptosis|signal transduction protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2) 17 Breast(15;0.00102) all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) AGGCTGGAATGAAAATTGATG 0.284000 12 4 0 0 0.000602214 0 0 CSMD2 114784 broad.mit.edu 37 1 34204909 34204909 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:34204909G>A uc001bxm.1 - 14 2377 c.2200C>T c.(2200-2202)Cct>Tct p.P734S CSMD2_uc001bxn.1_Missense_Mutation_p.P694S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 694 Sushi 4. integral to membrane|plasma membrane protein binding p.V733I(1)|p.P694A(1) 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) GGAACGCCAGGATCCGGGCAC 0.522000 17 57 0 0 0.000781405 0 0 GRIA2 2891 broad.mit.edu 37 4 158284155 158284155 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:158284155G>A uc003ipm.4 + 14 3070 c.2611G>A c.(2611-2613)Gaa>Aaa p.E871K GRIA2_uc011cit.2_Missense_Mutation_p.E824K|GRIA2_uc003ipl.4_Missense_Mutation_p.E871K|GRIA2_uc003ipk.4_Missense_Mutation_p.E824K|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript NM_001083619 NP_001077088 P42262 GRIA2_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA. 871 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AACTTATAAGGAAGGTTACAA 0.413000 10 17 0 0 0.00121646 0 0 ZNF808 388558 broad.mit.edu 37 19 53058076 53058076 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:53058076C>T uc010epq.1 + 4 2084 c.1907C>T c.(1906-1908)tCa>tTa p.S636L ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN Homo sapiens zinc finger protein 808 (ZNF808), mRNA. 636 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) ACGTGGAATTCACAGCTGGCA 0.408000 64 16 0 0 0.000308642 0 0 SPTLC2 9517 broad.mit.edu 37 14 77987881 77987881 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:77987881G>A uc001xub.3 - 9 1535 c.1347C>T c.(1345-1347)ttC>ttT p.F449F NM_004863 NP_004854 O15270 SPTC2_HUMAN Homo sapiens serine palmitoyltransferase, long chain base subunit 2 (SPTLC2), mRNA. 449 KECVQQLAENTRYFRRRLKEMGFIIYGNEDSPVV -> NGI TIHEVVQTRNTYHRFSPLSPVFSHQCLWIML (in Ref. 5). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) GGCGTCTCCTGAAATACCTGG 0.408000 8 14 0 0 0.000219431 0 0 KCNV1 27012 broad.mit.edu 37 8 110980573 110980573 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:110980573C>T uc003ynr.4 - 2 2051 c.1247G>A c.(1246-1248)gGa>gAa p.G416E KCNV1_uc010mcw.3_Missense_Mutation_p.G416E NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA. 416 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GACAAGAATTCCCGATAATAT 0.473000 92 23 0 0 0.00047179 0 0 TICAM1 148022 broad.mit.edu 37 19 4816790 4816790 + Nonsense_Mutation SNP G A A rs142171170 byFrequency TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:4816790G>A uc002mbi.3 - 1 1851 c.1600C>T c.(1600-1602)Cag>Tag p.Q534* TICAM1_uc021unj.1_Nonsense_Mutation_p.Q534* NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 534 Sufficient to induce apoptosis. I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TTTCGGGCCTGAAGCCTGTGG 0.652000 12 17 0 0 0.000422831 0 0 GRID2 2895 broad.mit.edu 37 4 94316791 94316791 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:94316791G>A uc011cdt.2 + 8 1537 c.1279G>A c.(1279-1281)Ggg>Agg p.G427R GRID2_uc011cdu.2_Missense_Mutation_p.G332R NM_001510 NP_001501 O43424 GRID2_HUMAN Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA. 427 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AGGTCTGAATGGGTCACTGAC 0.433000 7 6 0 0 0.000157383 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37356868 37356868 + Missense_Mutation SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:37356868A>G uc003zzq.3 + 8 1408 c.1235A>G c.(1234-1236)aAg>aGg p.K412R ZCCHC7_uc011lqh.2_Missense_Mutation_p.K122R|ZCCHC7_uc022bgu.1_Missense_Mutation_p.K412R|ZCCHC7_uc010mlt.3_Missense_Mutation_p.K411R NM_032226 NP_115602 Q8N3Z6 ZCHC7_HUMAN Homo sapiens zinc finger, CCHC domain containing 7 (ZCCHC7), mRNA. 412 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) GAGCCATCCAAGCTACCTTAT 0.403000 4 13 0 0 0.00185496 0 0 MUC16 94025 broad.mit.edu 37 19 9072091 9072091 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:9072091G>A uc002mkp.3 - 2 15559 c.15355C>T c.(15355-15357)Cct>Tct p.P5119S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5121 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 TTTATAGAAGGAAAAATTTCC 0.453000 35 14 0 0 0.00185496 0 0 ZNF534 147658 broad.mit.edu 37 19 52941172 52941172 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:52941172C>T uc002pzk.3 + 3 565 c.498C>T c.(496-498)ttC>ttT p.F166F ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Silent_p.F153F NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA. 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 TAAGTTTTTTCAGTGTCAAAA 0.328000 23 28 0 0 0.00106085 0 0 SORCS3 22986 broad.mit.edu 37 10 106983007 106983007 + Splice_Site SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:106983007G>A uc001kyi.1 + 20 3095 c.2868_splice c.e20+1 p.K956_splice SORCS3_uc010qqz.1_Splice_Site NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 956 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ATAGCACAAAGGTTTGGCCCT 0.453000 28 29 0 0 0.000409698 0 0 OR56A5 390084 broad.mit.edu 37 11 5988832 5988832 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:5988832C>T uc010qzu.2 - 0 893 c.893G>A c.(892-894)aGa>aAa p.R298K NM_001146033 NP_001139505 P0C7T3 O56A5_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA. 298 integral to membrane|plasma membrane olfactory receptor activity CTCCTTGGTTCTCACACCATA 0.463000 10 12 0 0 0.000422831 0 0 WDR62 284403 broad.mit.edu 37 19 36592210 36592210 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:36592210C>T uc002odd.2 + 23 3053 c.2962C>T c.(2962-2964)Ccg>Tcg p.P988S WDR62_uc002odc.2_Missense_Mutation_p.P988S NM_001083961 NP_001077430 O43379 WDR62_HUMAN Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA. 988 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GGACCAGAGCCCGCCTGAGGG 0.637000 9 10 0 0 0.00136819 0 0 ARMCX2 9823 broad.mit.edu 37 X 100911566 100911566 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:100911566C>T uc010nnt.2 - 4 1818 c.1009G>A c.(1009-1011)Gat>Aat p.D337N ARMCX2_uc004eid.2_Missense_Mutation_p.D337N|ARMCX2_uc004eie.3_Missense_Mutation_p.D337N|ARMCX2_uc004eif.3_Missense_Mutation_p.D337N|ARMCX2_uc004eig.3_Missense_Mutation_p.D337N|ARMCX2_uc022caq.1_Missense_Mutation_p.D337N NM_177949 NP_808818 Q7L311 ARMX2_HUMAN Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA. 337 integral to membrane binding p.P336T(1) NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1) 29 TCCTCAGAATCAGGGACCTCT 0.607000 50 36 0 0 0.000814825 0 0 MYO5B 4645 broad.mit.edu 37 18 47479700 47479700 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:47479700G>A uc002leb.2 - 13 1970 c.1682C>T c.(1681-1683)tCt>tTt p.S561F MYO5B_uc021ukb.1_Missense_Mutation_p.S560F NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 561 Myosin head-like. protein transport myosin complex ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) AAAACCATCAGAGAGGTACTC 0.488000 12 30 0 0 0.00058488 0 0 CSE1L 1434 broad.mit.edu 37 20 47695115 47695115 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:47695115C>T uc002xty.3 + 13 1572 c.1438C>T c.(1438-1440)Ctt>Ttt p.L480F CSE1L_uc010zyg.2_Missense_Mutation_p.L263F|CSE1L_uc010ghx.3_Missense_Mutation_p.L424F|CSE1L_uc010ghy.3_Missense_Mutation_p.L129F|CSE1L_uc010zyh.2_Missense_Mutation_p.L129F NM_001316 NP_001307 P55060 XPO2_HUMAN Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA. 480 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) ATTTCCTGTCCTTAAAGCTGA 0.289000 70 45 0 0 0.000781405 0 0 NEK9 91754 broad.mit.edu 37 14 75574130 75574130 + Nonsense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:75574130G>A uc001xrl.3 - 10 1397 c.1243C>T c.(1243-1245)Cga>Tga p.R415* NEK9_uc001xrk.3_5'UTR NM_033116 NP_149107 Q8TD19 NEK9_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA. 415 cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) TTTGGCTGTCGATAGGAGGCT 0.443000 11 20 0 0 0.00121646 0 0 CTDP1 9150 broad.mit.edu 37 18 77475254 77475254 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:77475254C>T uc002lnh.2 + 7 1941 c.1794C>T c.(1792-1794)gtC>gtT p.V598V CTDP1_uc002lni.2_Silent_p.V598V|CTDP1_uc010drd.2_Silent_p.V598V|CTDP1_uc021ult.1_Silent_p.V479V NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 598 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity p.L597L(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) AGATCCTGGTCCGTGTACACA 0.587000 2 10 0 0 0.000673444 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185417 127185417 + Nonsense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:127185417G>A uc004eum.3 - 0 966 c.769C>T c.(769-771)Caa>Taa p.Q257* NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN Homo sapiens actin-related protein T1 (ACTRT1), mRNA. 257 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 TCGGGCACTTGGTACAGCTCA 0.542000 33 28 0 0 0.00127121 0 0 MAST3 23031 broad.mit.edu 37 19 18249889 18249889 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:18249889C>T uc002nhz.4 + 18 2073 c.2073C>T c.(2071-2073)tcC>tcT p.S691S NM_015016 NP_055831 O60307 MAST3_HUMAN Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA. 691 AGC-kinase C-terminal. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 AAGAATCGTCCACAGAGATCC 0.597000 8 3 0 0 0.00024832 0 0 ACTA2 59 broad.mit.edu 37 10 90697976 90697976 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:90697976C>T uc001kfp.3 - 7 948 c.832G>A c.(832-834)Gaa>Aaa p.E278K STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.E233K|ACTA2_uc001kfq.3_Missense_Mutation_p.E278K|AX748062_uc001kfo.1_Non-coding_Transcript NM_001613 NP_001604 P62736 ACTA_HUMAN Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA. 278 response to virus cytosol ATP binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2) 17 Colorectal(252;0.0161) Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018) TAGGTGGTTTCATGGATGCCA 0.483000 9 20 0 0 0.000295444 0 0 HYAL4 23553 broad.mit.edu 37 7 123516965 123516965 + Missense_Mutation SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:123516965A>G uc003vlc.3 + 4 1840 c.1202A>G c.(1201-1203)aAc>aGc p.N401S HYAL4_uc011knz.2_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA. 401 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 CTTCACTTGAACCCTGCAAGT 0.502000 71 14 0 0 0.000566183 0 0 TMEM106A 113277 broad.mit.edu 37 17 41365228 41365228 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:41365228C>T uc002idn.1 + 2 405 c.168C>T c.(166-168)ttC>ttT p.F56F TMEM106A_uc010why.1_Silent_p.F8F|TMEM106A_uc010cze.1_Silent_p.F56F|TMEM106A_uc010whz.1_Silent_p.F56F NM_145041 NP_659478 Q96A25 T106A_HUMAN Homo sapiens transmembrane protein 106A (TMEM106A), mRNA. 56 integral to membrane NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Breast(137;0.0164) BRCA - Breast invasive adenocarcinoma(366;0.0917) ATGCCAGCTTCGTGACTTGTC 0.542000 89 105 0 0 0.000781405 0 0 OR6K3 391114 broad.mit.edu 37 1 158687162 158687162 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:158687162C>T uc021pbn.1 - 0 744 c.744G>A c.(742-744)ccG>ccA p.P248P NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA. 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CAAAGAATATCGGGAAGACCA 0.453000 1 3 0 0 6.4e-05 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746445 77746445 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:77746445C>T uc002snr.3 - 2 965 c.550G>A c.(550-552)Gat>Aat p.D184N LRRTM4_uc002snq.3_Missense_Mutation_p.D184N|LRRTM4_uc002sns.2_Missense_Mutation_p.D184N|LRRTM4_uc002snt.2_Missense_Mutation_p.D185N NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA. 184 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) TCCAAAAAATCAAGATTCCGA 0.418000 4 6 0 0 0.000157383 0 0 SCUBE3 222663 broad.mit.edu 37 6 35212587 35212587 + Splice_Site SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:35212587G>A uc003okf.1 + 18 2407 c.2401_splice c.e18+1 p.N801_splice SCUBE3_uc003okg.1_Splice_Site_p.N800_splice|SCUBE3_uc003okh.1_Splice_Site_p.N688_splice NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA. 801 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 37 CCCAATGCAAGAGTACGTGGC 0.577000 144 24 0 0 0.000375601 0 0 FLNC 2318 broad.mit.edu 37 7 128490469 128490469 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:128490469C>T uc003vnz.4 + 31 5539 c.5330C>T c.(5329-5331)cCa>cTa p.P1777L FLNC_uc003voa.4_Missense_Mutation_p.P1744L NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1777 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCTGTGGAGCCAATGGAGTCC 0.607000 192 37 0 0 0.000589545 0 0 DNAH7 56171 broad.mit.edu 37 2 196749357 196749357 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:196749357G>A uc002utj.4 - 34 5816 c.5715C>T c.(5713-5715)gtC>gtT p.V1905V NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1905 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 CAGGAAATGGGACAGTTAGTG 0.408000 14 38 0 0 0.000509022 0 0 BAI3 577 broad.mit.edu 37 6 69785900 69785900 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:69785900C>T uc010kak.3 + 15 2726 c.2450C>T c.(2449-2451)cCc>cTc p.P817L BAI3_uc003pev.4_Missense_Mutation_p.P817L NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 817 GPS. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACTTTGAATCCCTATTGTGTA 0.333000 18 15 0 0 0.000958276 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133963531 133963531 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:133963531G>A uc001lkx.4 + 14 1993 c.1993G>A c.(1993-1995)Gat>Aat p.D665N JAKMIP3_uc009yba.1_Missense_Mutation_p.D102N NM_001105521 NP_001098991 Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA. breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CATCCTGGGCGATAACGCCGT 0.627000 7 5 0 0 8.12818e-05 0 0 PARK2 5071 broad.mit.edu 37 6 162864403 162864403 + Missense_Mutation SNP G A A rs148990138 byFrequency TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:162864403G>A uc021zhu.1 - 2 342 c.251C>T c.(250-252)cCg>cTg p.P84L PARK2_uc003qtw.4_5'UTR|PARK2_uc010kkd.3_5'UTR|PARK2_uc003qtx.4_Missense_Mutation_p.P37L|PARK2_uc021zhs.1_Missense_Mutation_p.P37L|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.P37L|PARK2_uc003qtz.4_Missense_Mutation_p.P37L|PARK2_uc021zhv.1_5'UTR|PARK2_uc021zhw.1_5'UTR|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.P37L|PARK2_uc010kke.1_Missense_Mutation_p.P37L NM_004562 NP_004553 O60260 PRKN2_HUMAN Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA. 37 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process Golgi apparatus|aggresome|cytosol|endoplasmic reticulum|mitochondrion|nucleus|perinuclear region of cytoplasm PDZ domain binding|chaperone binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) CTGGTCAGCCGGAACCCCCTG 0.572000 36 4 0 0 0.000602214 0 0 SIAH3 283514 broad.mit.edu 37 13 46358066 46358066 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr13:46358066G>A uc001vap.3 - 1 344 c.262C>T c.(262-264)Cac>Tac p.H88Y NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA. 88 His-rich. multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 tgaaggtggtgggggtgggcg 0.677000 23 6 0 0 0.00116845 0 0 AGTR2 186 broad.mit.edu 37 X 115303711 115303711 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:115303711C>T uc022cdd.1 + 0 178 c.178C>T c.(178-180)Ctg>Ttg p.L60L AGTR2_uc004eqh.4_Silent_p.L60L NM_000686 NP_000677 P50052 AGTR2_HUMAN Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA. 60 G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 AATTGGATTTCTGGTCAATAT 0.363000 23 14 0 0 0.00185496 0 0 SLC4A8 9498 broad.mit.edu 37 12 51883516 51883516 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:51883516G>A uc001rys.1 + 18 2659 c.2481G>A c.(2479-2481)atG>atA p.M827I SLC4A8_uc001rym.3_Missense_Mutation_p.M774I|SLC4A8_uc001ryn.3_Missense_Mutation_p.M774I|SLC4A8_uc001ryo.2_Missense_Mutation_p.M774I|SLC4A8_uc010snj.2_Missense_Mutation_p.M854I|SLC4A8_uc001ryr.3_Missense_Mutation_p.M827I NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 827 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) ACCTACTGATGGTGGCCATCA 0.517000 8 47 0 0 0.000781405 0 0 GPR112 139378 broad.mit.edu 37 X 135428847 135428847 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:135428847C>T uc004ezu.1 + 5 3273 c.2982C>T c.(2980-2982)atC>atT p.I994I GPR112_uc010nsb.1_Silent_p.I789I|GPR112_uc010nsc.1_Silent_p.I761I NM_153834 NP_722576 Q8IZF6 GP112_HUMAN Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA. 994 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CTGATGGTATCTTACCTCCAC 0.502000 19 11 0 0 0.000673444 0 0 CCNA1 8900 broad.mit.edu 37 13 37014171 37014171 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr13:37014171G>A uc001uvr.4 + 5 1299 c.949G>A c.(949-951)Gat>Aat p.D317N CCNA1_uc010teo.2_Missense_Mutation_p.D273N|CCNA1_uc010abq.3_Missense_Mutation_p.D273N|CCNA1_uc010abp.3_Missense_Mutation_p.D273N|CCNA1_uc001uvs.4_Missense_Mutation_p.D316N|CCNA1_uc010abr.3_Non-coding_Transcript NM_003914 NP_001104517 P78396 CCNA1_HUMAN Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA. 317 G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 35 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) TATCACCGATGATACATACAC 0.383000 45 25 0 0 0.000720815 0 0 PROKR2 128674 broad.mit.edu 37 20 5283124 5283124 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:5283124C>T uc010zqw.2 - 1 725 c.717G>A c.(715-717)atG>atA p.M239I PROKR2_uc010zqx.2_Missense_Mutation_p.M239I|PROKR2_uc010zqy.2_Missense_Mutation_p.M239I NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 239 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AGCACAGGGTCATGGTGACCA 0.582000 HNSCC(71;0.22) 36 40 0 0 0.00148497 0 0 JAM2 58494 broad.mit.edu 37 21 27074551 27074551 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:27074551C>T uc002ylp.1 + 5 1212 c.667C>T c.(667-669)Cgc>Tgc p.R223C JAM2_uc011ace.1_Missense_Mutation_p.R223C|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R187C NM_021219 NP_067042 P57087 JAM2_HUMAN Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA. 223 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 TGTTGGATATCGCAGGTGTCC 0.398000 23 6 0 0 0.000157383 0 0 METTL2B 55798 broad.mit.edu 37 7 128120732 128120732 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:128120732C>T uc003vnf.3 + 3 627 c.590C>T c.(589-591)cCa>cTa p.P197L METTL2B_uc003vng.3_Missense_Mutation_p.P132L|METTL2B_uc011kop.2_Missense_Mutation_p.P61L NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN Homo sapiens methyltransferase like 2B (METTL2B), mRNA. 197 methyltransferase activity breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 ACAGTCTTTCCAATTTTACAA 0.393000 96 17 0 0 0.00178596 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2901634 2901634 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:2901634G>A uc010ckd.3 + 13 1254 c.1164G>A c.(1162-1164)caG>caA p.Q388Q RAP1GAP2_uc010cke.3_Silent_p.Q373Q NM_015085 NP_055900 Q684P5 RPGP2_HUMAN Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA. 388 Rap-GAP. regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TCGTCGTGCAGGTCGAGACCC 0.537000 49 48 0 0 0.000781405 0 0 GPR98 84059 broad.mit.edu 37 5 89979463 89979463 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:89979463C>T uc003kju.3 + 27 5821 c.5725C>T c.(5725-5727)Cct>Tct p.P1909S GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1909 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGACTCTGATCCTGATGGTGA 0.413000 7 4 0 0 0.00024832 0 0 CAMK1 8536 broad.mit.edu 37 3 9799267 9799267 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:9799267C>T uc003bst.3 - 11 1254 c.1069G>A c.(1069-1071)Gag>Aag p.E357K OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Nonsense_Mutation_p.W166* NM_003656 NP_003647 Q14012 KCC1A_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA. 357 cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) GTGCCCGGCTCCACGCAGCAG 0.687000 21 23 0 0 0.00047179 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140255646 140255646 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:140255646C>T uc003lic.2 + 0 716 c.589C>T c.(589-591)Cgg>Tgg p.R197W 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_uc011daf.2_Missense_Mutation_p.R197W NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), 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) ATTAGTTCTTCGGAAGTTATT 0.348000 76 33 0 0 0.000339439 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33960324 33960324 + Missense_Mutation SNP T A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:33960324T>A uc001bxj.4 + 7 2547 c.2380T>A c.(2380-2382)Tat>Aat p.Y794N ZSCAN20_uc009vui.3_Missense_Mutation_p.Y793N NM_145238 NP_660281 P17040 ZSC20_HUMAN Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA. 794 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGAAAAGCCCTATAAATGTGG 0.448000 21 72 0 0 0.000781405 0 0 KDM5A 5927 broad.mit.edu 37 12 416948 416948 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:416948G>A uc001qif.1 - 22 3965 c.3602C>T c.(3601-3603)tCc>tTc p.S1201F NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 1201 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TTGCCAGCTGGATCCTTTTTT 0.463000 T NUP98 AML 12 21 0 0 0.000295444 0 0 NES 10763 broad.mit.edu 37 1 156639485 156639485 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:156639485C>T uc001fpq.3 - 3 4628 c.4495G>A c.(4495-4497)Gag>Aag p.E1499K NES_uc021pbh.1_Missense_Mutation_p.E417K NM_006617 NP_006608 P48681 NEST_HUMAN Homo sapiens nestin (NES), mRNA. 1499 Tail. G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GACTCTTCCTCTGAGCCAGAA 0.612000 34 27 0 0 0.00058488 0 0 CYP4A11 1579 broad.mit.edu 37 1 47401203 47401203 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:47401203C>T uc001cqp.4 - 4 678 c.627G>A c.(625-627)caG>caA p.Q209Q CYP4A11_uc001cqq.2_Silent_p.Q209Q|CYP4A11_uc010omm.1_Non-coding_Transcript NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 209 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) ACCTGTCCACCTGGATGCTGC 0.582000 7 38 0 0 0.000680045 0 0 PHF2P1 266695 broad.mit.edu 37 13 19622217 19622217 + RNA SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr13:19622217C>T uc001umb.1 - 9 c.3594G>A Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA. TGCCTAGTTTCAACCTCTTTT 0.542000 50 61 0 0 0.000781405 0 0 NSDHL 50814 broad.mit.edu 37 X 152037581 152037581 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:152037581G>A uc004fgt.1 + 8 1304 c.1043G>A c.(1042-1044)gGc>gAc p.G348D NSDHL_uc004fgs.1_Missense_Mutation_p.G348D NM_001129765 NP_057006 Q15738 NSDHL_HUMAN Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA. 348 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5) 15 Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) AAGGCCATGGGCTACCAGCCA 0.597000 34 23 0 0 0.000375601 0 0 SLC26A3 1811 broad.mit.edu 37 7 107415259 107415259 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:107415259C>T uc003ver.2 - 15 1947 c.1736G>A c.(1735-1737)cGa>cAa p.R579Q SLC26A3_uc003ves.2_Missense_Mutation_p.R544Q NM_000111 NP_000102 P40879 S26A3_HUMAN Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA. 579 STAS. excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 CTGCAGTTTTCGGATTTTCCT 0.408000 14 36 0 0 0.00111076 0 0 SMC1B 27127 broad.mit.edu 37 22 45802514 45802514 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:45802514G>A uc003bgc.3 - 3 494 c.442C>T c.(442-444)Ccc>Tcc p.P148S SMC1B_uc003bgd.3_Missense_Mutation_p.P148S|SMC1B_uc003bge.1_5'UTR NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA. 148 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTTTCTTTGGGTTTCTTCACT 0.328000 40 31 0 0 0.000814825 0 0 TET1 80312 broad.mit.edu 37 10 70404931 70404931 + Silent SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:70404931T>C uc001jok.4 + 3 2950 c.2445T>C c.(2443-2445)caT>caC p.H815H NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 815 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 GTTGTGATCATCTCAAGGGGA 0.388000 22 49 0 0 0.000781405 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73169642 73169642 + Missense_Mutation SNP T A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:73169642T>A uc003hgk.2 - 16 2453 c.2416A>T c.(2416-2418)Att>Ttt p.I806F ADAMTS3_uc003hgl.3_Missense_Mutation_p.I147F NM_014243 NP_055058 O15072 ATS3_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA. 806 Spacer. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACCAAAACAATAACAGGATCA 0.368000 11 14 0 0 0.000219431 0 0 PIGO 84720 broad.mit.edu 37 9 35091877 35091877 + Missense_Mutation SNP C A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:35091877C>A uc003zwd.3 - 6 2403 c.2007G>T c.(2005-2007)tgG>tgT p.W669C PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.W232C NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. 669 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AAGCTCCATACCACAAATTCT 0.587000 5 23 0.000295444 0.00192665 0.000295444 1 0 GRIA1 2890 broad.mit.edu 37 5 153077630 153077630 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:153077630G>A uc011dcy.2 + 8 1218 c.1191G>A c.(1189-1191)aaG>aaA p.K397K GRIA1_uc003lva.4_Silent_p.K387K|GRIA1_uc003luy.4_Silent_p.K387K|GRIA1_uc003luz.4_Silent_p.K292K|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.K307K|GRIA1_uc011dcx.2_Silent_p.K318K|GRIA1_uc011dcz.2_Silent_p.K397K|GRIA1_uc010jia.1_Silent_p.K367K NM_001114183 NP_001107655 P42261 GRIA1_HUMAN Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA. 387 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAGATGATAAGTTTGTCCCTG 0.502000 3 11 0 0 0.000308642 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529150 5529150 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:5529150G>A uc021qcw.1 - 0 1639 c.1639C>T c.(1639-1641)Cct>Tct p.P547S HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.P547S NM_017481 NP_059509 Q9H347 UBQL3_HUMAN Homo sapiens ubiquilin 3 (UBQLN3), mRNA. 547 p.M546I(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTAGGCAAGGCATGAACCAG 0.567000 22 14 0 0 0.000219431 0 0 PRKG2 5593 broad.mit.edu 37 4 82125774 82125774 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:82125774G>A uc003hmh.2 - 0 441 c.428C>T c.(427-429)tCc>tTc p.S143F PRKG2_uc011cch.1_Missense_Mutation_p.S143F NM_006259 NP_006250 Q13237 KGP2_HUMAN Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA. 143 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 TTTCTCAAAGGAAAATTCAGG 0.453000 66 43 0 0 0.000781405 0 0 TFE3 7030 broad.mit.edu 37 X 48896774 48896774 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:48896774C>T uc004dmb.3 - 2 630 c.392G>A c.(391-393)cGt>cAt p.R131H TFE3_uc004dmc.3_Missense_Mutation_p.R26H|TFE3_uc004dme.1_Non-coding_Transcript NM_006521 NP_006512 P19532 TFE3_HUMAN Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA. 131 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167) central_nervous_system(1) 1 CCGACGCTCACGCCTCTCCTG 0.667000 T """SFPQ, ASPSCR1, PRCC, NONO, CLTC""" """papillary renal, alveolar soft part sarcoma, renal""" 8 6 0 0 8.12818e-05 0 0 RUVBL2 10856 broad.mit.edu 37 19 49510598 49510599 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:49510598_49510599CC>TT uc002plr.1 + 5 448_449 c.435_436CC>TT c.(433-438)atccag>atTTag p.Q146* RUVBL2_uc010yab.2_Nonsense_Mutation_p.Q146*|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Nonsense_Mutation_p.Q101* NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA. 146 DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding large_intestine(1)|upper_aerodigestive_tract(1) 2 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) TGGTGGAGATCCAGATTGATCG 0.574000 22 30 0 0 6.4e-05 0 0 SLC22A23 63027 broad.mit.edu 37 6 3287256 3287256 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:3287256G>A uc003mvm.3 - 6 1383 c.1383C>T c.(1381-1383)ctC>ctT p.L461L AK096219_uc003mvi.1_Non-coding_Transcript|SLC22A23_uc003mvn.3_Silent_p.L180L|SLC22A23_uc003mvo.3_Silent_p.L180L|SLC22A23_uc003mvp.1_Non-coding_Transcript|SLC22A23_uc010jnn.3_Silent_p.L461L|SLC22A23_uc003mvq.1_Non-coding_Transcript NM_015482 NP_068764 A1A5C7 S22AN_HUMAN Homo sapiens solute carrier family 22, member 23 (SLC22A23), transcript variant 1, mRNA. 461 ion transport integral to membrane transmembrane transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(93;0.0493) all_hematologic(90;0.0905) AGTTCTCCAGGAGCGGCACCT 0.632000 46 13 0 0 0.000422831 0 0 OR4A5 81318 broad.mit.edu 37 11 51412063 51412063 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:51412063G>A uc001nhi.2 - 0 386 c.333C>T c.(331-333)ttC>ttT p.F111F NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA. 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F111L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CCACCAGAAGGAAGACCTCAG 0.453000 5 4 0 0 0.00024832 0 0 SLC6A20 54716 broad.mit.edu 37 3 45807066 45807066 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:45807066C>T uc011bai.2 - 7 1390 c.1266G>A c.(1264-1266)aaG>aaA p.K422K SLC6A20_uc003cow.3_Silent_p.K72K|SLC6A20_uc011baj.2_Silent_p.K385K NM_020208 NP_064593 Q9NP91 S6A20_HUMAN Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA. 422 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TGGAGATGATCTTGCTGTCTG 0.627000 7 16 0 0 0.000308642 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754675 94754675 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:94754675C>T uc001yct.3 - 2 1406 c.940G>A c.(940-942)Gac>Aac p.D314N SERPINA10_uc001ycu.4_Missense_Mutation_p.D314N NM_016186 NP_057270 Q9UK55 ZPI_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA. 314 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GTCAGGTAGTCTTCAAGGGCG 0.488000 11 33 0 0 0.000814825 0 0 ZP4 57829 broad.mit.edu 37 1 238051726 238051726 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:238051726C>T uc001hym.3 - 3 772 c.485G>A c.(484-486)gGa>gAa p.G162E LOC100130331_uc010pyc.2_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA. 162 P-type. acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) TTCACAGTCTCCTCGAGAGAT 0.507000 12 53 0 0 0.000781405 0 0 EPPK1 83481 broad.mit.edu 37 8 144940456 144940456 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:144940456G>A uc003zaa.1 - 0 6979 c.6966C>T c.(6964-6966)ttC>ttT p.F2322F NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 2322 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCATGGCCTGGAAGAGGGAGA 0.701000 244 8 0 0 0.000274275 0 0 DRP2 1821 broad.mit.edu 37 X 100496794 100496794 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:100496794C>T uc004egz.2 + 6 1066 c.697C>T c.(697-699)Ctc>Ttc p.L233F DRP2_uc011mrh.1_Missense_Mutation_p.L155F NM_001939 NP_001164655 Q13474 DRP2_HUMAN Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA. 233 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TCTGGAGCAGCTCTTGGAGAT 0.562000 19 10 0 0 0.000673444 0 0 TMC5 79838 broad.mit.edu 37 16 19452005 19452005 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:19452005C>T uc002dgc.4 + 2 1394 c.645C>T c.(643-645)aaC>aaT p.N215N TMC5_uc010vaq.2_Silent_p.N215N|TMC5_uc002dgb.4_Silent_p.N215N|TMC5_uc010var.2_Silent_p.N215N NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 215 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TTCAACCTAACTCTCCACCCT 0.458000 26 20 0 0 0.00188189 0 0 AK310441 0 broad.mit.edu 37 1 148889678 148889678 + RNA SNP C T T rs4950650 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:148889678C>T uc009wkv.1 + 6 c.765C>T Homo sapiens cDNA, FLJ17483. ACCCTATATGCCTGCGTCTAA 0.398000 48 12 0 0 0.00136819 0 0 CDCP1 64866 broad.mit.edu 37 3 45127476 45127476 + Missense_Mutation SNP A C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:45127476A>C uc003com.3 - 8 2300 c.2165T>G c.(2164-2166)tTt>tGt p.F722C NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA. 722 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CCCTTTCTGAAACTTTTTTGG 0.473000 112 143 0 0 0.000781405 0 0 OR6T1 219874 broad.mit.edu 37 11 123813896 123813896 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:123813896G>A uc010sab.2 - 0 650 c.650C>T c.(649-651)tCc>tTc p.S217F NM_001005187 NP_001005187 Q8NGN1 OR6T1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA. 217 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S217Y(2) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) GCAGGCATAGGAAACTGAGGT 0.542000 9 16 0 0 0.000422831 0 0 CHD3 1107 broad.mit.edu 37 17 7810332 7810332 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:7810332C>T uc002gjd.2 + 29 4828 c.4826C>T c.(4825-4827)cCc>cTc p.P1609L CHD3_uc002gje.2_Missense_Mutation_p.P1550L|CHD3_uc002gjf.2_Missense_Mutation_p.P1550L|CHD3_uc002gjh.2_Missense_Mutation_p.P126L|CHD3_uc002gjj.2_5'Flank NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 1550 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ACCAACAGTCCCTGCACCTCT 0.562000 174 51 0 0 0.000781405 0 0 NID1 4811 broad.mit.edu 37 1 236187465 236187465 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:236187465C>T uc001hxo.3 - 8 2135 c.2033G>A c.(2032-2034)gGg>gAg p.G678E NID1_uc009xgd.3_Missense_Mutation_p.G678E NM_002508 NP_002499 P14543 NID1_HUMAN Homo sapiens nidogen 1 (NID1), mRNA. 678 EGF-like 2. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GGTGTCACACCCATGAGTGCC 0.577000 23 23 0 0 0.000375601 0 0 FAM107A 11170 broad.mit.edu 37 3 58555568 58555568 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:58555568C>T uc003dko.3 - 2 729 c.113G>A c.(112-114)aGg>aAg p.R38K FAM107A_uc003dkm.3_Missense_Mutation_p.R7K|FAM107A_uc003dkn.3_Missense_Mutation_p.R7K|FAM107A_uc010hnm.3_Missense_Mutation_p.R35K|FAM107A_uc003dkp.1_Missense_Mutation_p.R7K NM_007177 NP_009108 O95990 F107A_HUMAN Homo sapiens family with sequence similarity 107, member A (FAM107A), transcript variant 1, mRNA. 7 regulation of cell growth nucleus protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) TGCCCGCTCCCTCTGGATCTC 0.592000 36 30 0 0 0.000692331 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140203664 140203664 + Silent SNP C T T rs149846106 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:140203664C>T uc003lhl.2 + 0 2304 c.2304C>T c.(2302-2304)ctC>ctT p.L768L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.L768L|PCDHAC2_uc003lhj.1_Silent_p.L768L NM_018908 NP_061731 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA. 806 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) AAACAGACCTCATGGCCTTCA 0.522000 40 14 0 0 0.000566183 0 0 TEX15 56154 broad.mit.edu 37 8 30704622 30704622 + Silent SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:30704622A>G uc003xil.3 - 0 1912 c.1912T>C c.(1912-1914)Tta>Cta p.L638L NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 638 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TGTTTTACTAACAAACCAAAA 0.323000 36 9 0 0 0.000442599 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31146119 31146119 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:31146119G>A uc003tca.2 + 15 1517 c.1228G>A c.(1228-1230)Gag>Aag p.E410K ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.E438K|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.E437K|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.E389K|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.E438K NM_001118 NP_001109 P41586 PACR_HUMAN Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA. 410 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 GGTACAAGCGGAGATCAAGCG 0.617000 21 36 0 0 0.00148497 0 0 abParts 0 broad.mit.edu 37 14 107062360 107062360 + RNA SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:107062360A>G uc021ser.1 - 150 c.6626T>C Parts of antibodies, mostly variable regions. GACAGCGCAGATGAGGGACAG 0.612000 42 5 0 0 8.12818e-05 0 0 STYX 6815 broad.mit.edu 37 14 53223298 53223298 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:53223298C>T uc010tqy.2 + 5 334 c.272C>T c.(271-273)cCa>cTa p.P91L STYX_uc001xaa.3_Missense_Mutation_p.P91L NM_001130701 NP_660294 Q8WUJ0 STYX_HUMAN Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA. 91 protein dephosphorylation|spermatogenesis cytoplasm protein tyrosine/serine/threonine phosphatase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Breast(41;0.176) GCAGATAATCCAGTTGAAAAT 0.254000 11 32 0 0 0.000953801 0 0 KIAA0232 9778 broad.mit.edu 37 4 6864330 6864330 + Missense_Mutation SNP G T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:6864330G>T uc003gjr.4 + 6 2684 c.2221G>T c.(2221-2223)Gat>Tat p.D741Y KIAA0232_uc003gjq.4_Missense_Mutation_p.D741Y NM_014743 NP_055558 Q92628 K0232_HUMAN Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA. 741 ATP binding p.E740K(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 TAATGCCGAAGATATTAATTA 0.338000 25 6 5.9392e-07 3.88224e-06 0.00116845 1 0 MIR520A 574467 broad.mit.edu 37 19 54194157 54194157 + RNA SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:54194157G>A uc021uzs.1 + 0 c.23G>A Homo sapiens microRNA 520a (MIR520A), microRNA. CCCTCCAGAGGGAAGTACTTT 0.423000 90 28 0 0 0.000409698 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347901 38347901 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:38347901C>T uc003cib.2 + 0 457 c.384C>T c.(382-384)ttC>ttT p.F128F SLC22A14_uc010hhc.1_Silent_p.F128F|SLC22A14_uc003cia.2_Silent_p.F128F|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 128 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) ATGGCAGTTTCCTGACATGCT 0.517000 74 74 0 0 0.000781405 0 0 PRKAA2 5563 broad.mit.edu 37 1 57171824 57171824 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:57171824G>A uc001cyk.4 + 7 1424 c.1353G>A c.(1351-1353)gtG>gtA p.V451V NM_006252 NP_006243 P54646 AAPK2_HUMAN Homo sapiens protein kinase, AMP-activated, alpha 2 catalytic subunit (PRKAA2), mRNA. 451 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GCAATTACGTGAAAATGAGCT 0.338000 21 29 0 0 0.001512 0 0 DSCAM 1826 broad.mit.edu 37 21 42080452 42080452 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:42080452C>T uc002yyq.1 - 1 741 c.289G>A c.(289-291)Gat>Aat p.D97N 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. 97 Ig-like C2-type 1. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TAAGTATTATCATGGATTAAG 0.473000 41 30 0 0 0.001512 0 0 KIR3DL2 3812 broad.mit.edu 37 19 55377343 55377343 + Missense_Mutation SNP C T T rs138402445 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:55377343C>T uc002qhl.4 + 6 1147 c.1084C>T c.(1084-1086)Cgc>Tgc p.R362C KIR3DL2_uc002qho.4_Missense_Mutation_p.R362C|KIR3DL2_uc010esh.3_Missense_Mutation_p.R345C P43630 KI3L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA. 362 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) tctcctTTATCGCTGGTGCTC 0.532000 24 16 0 0 0.00074312 0 0 GOLPH3 64083 broad.mit.edu 37 5 32126608 32126608 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:32126608G>A uc003jhp.1 - 3 892 c.607C>T c.(607-609)Ccc>Tcc p.P203S NM_022130 NP_071413 Q9H4A6 GOLP3_HUMAN Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA. 203 cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network protein binding kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 TTGGTGAGGGGATGTGTTGTC 0.443000 52 17 0 0 0.00121646 0 0 C16orf78 123970 broad.mit.edu 37 16 49407878 49407878 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:49407878G>A uc002efr.3 + 0 71 c.28G>A c.(28-30)Gat>Aat p.D10N NM_144602 NP_653203 Q8WTQ4 CP078_HUMAN Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA. 10 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1) 22 GGACCTGAAGGATTTAATGCC 0.532000 24 25 0 0 0.000720815 0 0 KIAA1217 56243 broad.mit.edu 37 10 24817015 24817015 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:24817015G>A uc001iru.4 + 13 3452 c.3049G>A c.(3049-3051)Gga>Aga p.G1017R KIAA1217_uc001irs.3_Missense_Mutation_p.G937R|KIAA1217_uc001irt.4_Missense_Mutation_p.G982R|KIAA1217_uc010qcy.2_Missense_Mutation_p.G982R|KIAA1217_uc010qcz.2_Missense_Mutation_p.G982R|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.G700R|KIAA1217_uc001irz.3_Missense_Mutation_p.G700R|KIAA1217_uc001irx.3_Missense_Mutation_p.G700R|KIAA1217_uc001iry.3_Missense_Mutation_p.G700R NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 1017 embryonic skeletal system development cytoplasm p.R1016R(1) 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 ACTGCCAAGGGGAGATGCCCC 0.512000 9 34 0 0 0.000491102 0 0 NEK4 6787 broad.mit.edu 37 3 52802597 52802597 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:52802597G>A uc003dfq.4 - 1 320 c.117C>T c.(115-117)ctC>ctT p.L39L NEK4_uc011bej.2_Intron|NEK4_uc003dfr.3_Silent_p.L39L NM_003157 NP_003148 P51957 NEK4_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA. 39 Protein kinase. cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) AGGCATTTCGGAGGTTCAGTT 0.448000 71 71 0 0 0.000781405 0 0 OPRM1 4988 broad.mit.edu 37 6 154412478 154412478 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:154412478C>T uc011efe.2 + 4 1837 c.1314C>T c.(1312-1314)ttC>ttT p.F438F OPRM1_uc011efd.2_Silent_p.F245F|OPRM1_uc011efc.1_Silent_p.F264F|OPRM1_uc003qpn.2_Silent_p.F345F|OPRM1_uc003qpo.1_Silent_p.F345F|OPRM1_uc011eff.1_Silent_p.F345F|OPRM1_uc011efg.1_Silent_p.F345F|OPRM1_uc011efi.2_Silent_p.F345F|OPRM1_uc011efh.1_Silent_p.F345F|OPRM1_uc003qpq.1_Silent_p.F345F|OPRM1_uc003qpr.2_Silent_p.F345F|OPRM1_uc003qpt.1_Silent_p.F345F|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Silent_p.F245F|OPRM1_uc003qpu.2_Silent_p.F245F NM_001145279 NP_001138751 P35372 OPRM_HUMAN Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA. 345 behavior|negative regulation of cell proliferation|sensory perception Golgi apparatus|endoplasmic reticulum|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) ATGAAAACTTCAAACGATGCT 0.458000 7 19 0 0 0.000958276 0 0 RAD9A 5883 broad.mit.edu 37 11 67163818 67163819 + Missense_Mutation DNP GG AA AA TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:67163818_67163819GG>AA uc001okr.3 + 8 912_913 c.819_820GG>AA c.(817-822)caggac>caAAac p.D274N RAD9A_uc021qmg.1_Missense_Mutation_p.D198N NM_004584 NP_004575 Q99638 RAD9A_HUMAN Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA. 274 Sufficient for interaction with ABL1. DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding lung(7)|upper_aerodigestive_tract(1) 8 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CGCACTCCCAGGACCTGGGCTC 0.639000 Other conserved DNA damage response genes 65 62 0 0 6.4e-05 0 0 UPP1 7378 broad.mit.edu 37 7 48146546 48146546 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:48146546C>T uc003toj.3 + 7 1042 c.513C>T c.(511-513)gtC>gtT p.V171V UPP1_uc003tok.3_Silent_p.V171V|UPP1_uc003tol.3_Silent_p.V171V|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Silent_p.V34V NM_181597 NP_853628 Q16831 UPP1_HUMAN Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA. 171 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage cytosol uridine phosphorylase activity breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 18 AGCAGATTGTCCTGGGGAAGC 0.542000 118 28 0 0 0.00127121 0 0 FHL3 2275 broad.mit.edu 37 1 38463446 38463446 + Missense_Mutation SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:38463446A>G uc001cck.3 - 4 777 c.598T>C c.(598-600)Ttc>Ctc p.F200L FHL3_uc001ccm.3_Missense_Mutation_p.F92L|FHL3_uc009vvl.2_3'UTR NM_004468 NP_004459 Q13643 FHL3_HUMAN Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA. 200 LIM zinc-binding 3. muscle organ development zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2) 5 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CGGGAGGTGAACTGCTGCCCT 0.582000 13 30 0 0 0.00178596 0 0 SIGLEC6 946 broad.mit.edu 37 19 52031506 52031506 + Splice_Site SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:52031506C>T uc002pwy.3 - 6 1221 c.1013_splice c.e6-1 p.W338_splice SIGLEC6_uc002pwz.3_Splice_Site_p.W322_splice|SIGLEC6_uc010ydb.2_Splice_Site_p.W286_splice|SIGLEC6_uc010ydc.2_Splice_Site_p.W349_splice|SIGLEC6_uc002pxa.3_Intron|SIGLEC6_uc010eoz.2_Intron NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 338 cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CTTCTGGTTTCCCTATAATTT 0.498000 24 18 0 0 0.00121646 0 0 HCK 3055 broad.mit.edu 37 20 30662496 30662496 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:30662496G>A uc002wxh.3 + 4 637 c.400G>A c.(400-402)Gcc>Acc p.A134T HCK_uc010gdy.3_Missense_Mutation_p.A114T|HCK_uc021wbv.1_Missense_Mutation_p.A113T|HCK_uc002wxi.3_Missense_Mutation_p.A112T NM_001172133 NP_001165604 P08631 HCK_HUMAN Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA. 134 SH3. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.A133S(1) NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CAACTATGTCGCCCGCGTTGA 0.547000 104 33 0 0 0.000814825 0 0 PATZ1 23598 broad.mit.edu 37 22 31740335 31740335 + Silent SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:31740335A>G uc003akq.3 - 0 1915 c.1254T>C c.(1252-1254)tgT>tgC p.C418C PATZ1_uc003akp.3_Silent_p.C418C|PATZ1_uc003akr.3_Silent_p.C418C|PATZ1_uc003aks.3_Silent_p.C418C|Em:AC005003.4_uc003akt.3_5'Flank NM_014323 NP_055138 Q9HBE1 PATZ1_HUMAN Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA. 418 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 AGCCTTTCCCACAGCTCTGGC 0.577000 44 12 0 0 0.000219431 0 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726520 25726520 + Missense_Mutation SNP A T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:25726520A>T uc003nfc.3 - 0 271 c.236T>A c.(235-237)aTt>aAt p.I79N HIST1H2BA_uc003nfd.3_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA. 79 nucleosome assembly nucleosome|nucleus DNA binding p.R78H(1) breast(1)|endometrium(2)|large_intestine(2)|lung(8) 13 GCGGGGAATAATGCGAGTTTT 0.532000 44 74 0 0 0.000781405 0 0 TRIM9 114088 broad.mit.edu 37 14 51560982 51560982 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr14:51560982C>T uc001wyx.4 - 0 1441 c.676G>A c.(676-678)Gtc>Atc p.V226I TRIM9_uc001wyy.2_Missense_Mutation_p.V226I|TRIM9_uc001wyz.4_Missense_Mutation_p.V226I NM_015163 NP_055978 Q9C026 TRIM9_HUMAN Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA. 226 proteasomal ubiquitin-dependent protein catabolic process cell junction|cytoskeleton|dendrite|synaptic vesicle protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_epithelial(31;0.00418)|Breast(41;0.148) CAGGTGGAGACCTTGCGTGGG 0.677000 9 21 0 0 0.00152264 0 0 GRIK2 2898 broad.mit.edu 37 6 102372574 102372574 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:102372574T>C uc003pqp.4 + 11 2140 c.1847T>C c.(1846-1848)gTt>gCt p.V616A GRIK2_uc010kcw.3_Missense_Mutation_p.V616A|GRIK2_uc003pqo.4_Missense_Mutation_p.V616A|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron NM_021956 NP_068775 Q13002 GRIK2_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA. 616 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TGGTTTGGAGTTGGAGCTCTC 0.473000 4 6 0 0 8.12818e-05 0 0 KLHL13 90293 broad.mit.edu 37 X 117053493 117053493 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:117053493G>A uc011mtp.2 - 4 703 c.570C>T c.(568-570)ctC>ctT p.L190L KLHL13_uc004eqk.3_Silent_p.L136L|KLHL13_uc004eql.3_Silent_p.L187L|KLHL13_uc011mtn.2_Silent_p.L27L|KLHL13_uc011mto.2_Silent_p.L181L|KLHL13_uc011mtq.2_Silent_p.L171L|KLHL13_uc004eqm.3_Silent_p.L145L|KLHL13_uc022cde.1_Silent_p.L171L NM_001168299 NP_001161775 Q9P2N7 KLH13_HUMAN Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA. 187 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CCCCAGATATGAGAAACACTT 0.413000 80 57 0 0 0.000781405 0 0 MYH13 8735 broad.mit.edu 37 17 10219099 10219099 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:10219099C>T uc002gmk.1 - 28 3985 c.3895G>A c.(3895-3897)Gag>Aag p.E1299K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 1299 muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ATCAGAGACTCCTTCTCTTCC 0.547000 27 21 0 0 0.00121646 0 0 THBS2 7058 broad.mit.edu 37 6 169640626 169640626 + Nonsense_Mutation SNP G C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:169640626G>C uc003qwt.3 - 6 1201 c.953C>G c.(952-954)tCa>tGa p.S318* NM_003247 NP_003238 P35442 TSP2_HUMAN Homo sapiens thrombospondin 2 (THBS2), mRNA. 318 VWFC. cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 111 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCAGCAAGCTGACATGTTCCT 0.498000 17 21 0 0 0.00047179 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140869034 140869034 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:140869034C>T uc003lla.2 + 0 227 c.227C>T c.(226-228)tCc>tTc p.S76F 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_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.S76F NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA. 76 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) CGCTATTTTTCCCTGAGCTTG 0.552000 46 45 0 0 0.000781405 0 0 OR2J3 442186 broad.mit.edu 37 6 29080273 29080273 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:29080273C>T uc011dll.2 + 0 606 c.606C>T c.(604-606)ctC>ctT p.L202L NM_001005216 NP_001005216 O76001 OR2J3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 24 AGCTGACCCTCATGATCACAA 0.463000 31 21 0 0 0.00188189 0 0 SLC28A2 9153 broad.mit.edu 37 15 45556157 45556157 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr15:45556157C>T uc001zva.2 + 5 590 c.525C>T c.(523-525)atC>atT p.I175I NM_004212 NP_004203 O43868 S28A2_HUMAN Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA. 175 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) AGCAGCTGATCCCCTTTGCAG 0.502000 8 25 0 0 0.00047179 0 0 BCL9L 283149 broad.mit.edu 37 11 118769362 118769362 + Missense_Mutation SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:118769362A>G uc001pug.3 - 7 5227 c.4262T>C c.(4261-4263)aTg>aCg p.M1421T BCL9L_uc009zal.3_Missense_Mutation_p.M1416T NM_182557 NP_872363 Q86UU0 BCL9L_HUMAN Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA. 1421 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) TGGAGGGGACATGACCCCCTG 0.642000 18 19 0 0 0.00188189 0 0 NELL2 4753 broad.mit.edu 37 12 44913970 44913970 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:44913970C>T uc010skz.1 - 19 2493 c.2368G>A c.(2368-2370)Gag>Aag p.E790K NELL2_uc001rof.3_Missense_Mutation_p.E739K|NELL2_uc001rog.2_Missense_Mutation_p.E740K|NELL2_uc001roh.2_Missense_Mutation_p.E740K|NELL2_uc009zkd.2_Missense_Mutation_p.E692K|NELL2_uc010sla.1_Missense_Mutation_p.E763K NM_001145107 NP_006150 Q99435 NELL2_HUMAN Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA. 740 VWFC 5. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) AATTCACACTCCACATCTGGG 0.557000 0 10 0 0 0.000673444 0 0 JAM2 58494 broad.mit.edu 37 21 27071055 27071055 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:27071055G>A uc002ylp.1 + 4 1006 c.461G>A c.(460-462)cGa>cAa p.R154Q JAM2_uc011ace.1_Missense_Mutation_p.R154Q|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Missense_Mutation_p.R118Q NM_021219 NP_067042 P57087 JAM2_HUMAN Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA. 154 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1) 19 GTAGAGCTACGATGTCAAGAC 0.448000 16 13 0 0 0.000308642 0 0 TGM7 116179 broad.mit.edu 37 15 43577045 43577045 + Missense_Mutation SNP T G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr15:43577045T>G uc001zrf.1 - 6 976 c.971A>C c.(970-972)gAg>gCg p.E324A NM_052955 NP_443187 Q96PF1 TGM7_HUMAN Homo sapiens transglutaminase 7 (TGM7), mRNA. 324 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TGACAGCATCTCGGCATTTCG 0.483000 29 90 0 0 0.000781405 0 0 COL1A1 1277 broad.mit.edu 37 17 48266125 48266125 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:48266125C>T uc002iqm.3 - 41 3203 c.3077G>A c.(3076-3078)cGa>cAa p.R1026Q NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 1026 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) AGAACCGTCTCGTCCAGGGGA 0.622000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 32 27 0 0 0.00127121 0 0 TRPV6 55503 broad.mit.edu 37 7 142569731 142569731 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:142569731C>T uc003wbx.2 - 14 2136 c.1907G>A c.(1906-1908)aGg>aAg p.R636K TRPV6_uc003wbw.1_Missense_Mutation_p.R422K|TRPV6_uc010lou.1_Missense_Mutation_p.R507K NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 636 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) GAGATCTTGCCTGTCTTCCAC 0.547000 40 92 0 0 0.000781405 0 0 TECTA 7007 broad.mit.edu 37 11 121016263 121016263 + Splice_Site SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:121016263G>A uc010rzo.2 + 11 3544 c.3544_splice c.e11-1 p.V1182_splice NM_005422 NP_005413 O75443 TECTA_HUMAN Homo sapiens tectorin alpha (TECTA), mRNA. 1182 VWFD 3. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) TCCTCTTACAGGTCAACAGTG 0.498000 194 71 0 0 0.000781405 0 0 AP1B1 162 broad.mit.edu 37 22 29750755 29750755 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:29750755C>T uc003afj.3 - 6 1009 c.822G>A c.(820-822)ttG>ttA p.L274L AP1B1_uc003afl.3_Silent_p.L274L|AP1B1_uc003afi.3_Silent_p.L274L NM_001127 NP_001118 Q10567 AP1B1_HUMAN Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA. 274 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane protein binding|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CGTAGTAGTCCAAGTCCTTAG 0.582000 43 17 0 0 0.000958276 0 0 EVC 2121 broad.mit.edu 37 4 5747008 5747008 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr4:5747008C>T uc003gil.1 + 6 1063 c.879C>T c.(877-879)taC>taT p.Y293Y EVC_uc003gim.1_Non-coding_Transcript NM_153717 NP_714928 P57679 EVC_HUMAN Homo sapiens Ellis van Creveld syndrome (EVC), mRNA. 293 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ACTCTGAGTACATCACCCTGG 0.428000 24 27 0 0 0.00127121 0 0 NLRP11 204801 broad.mit.edu 37 19 56321567 56321567 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:56321567C>T uc010ygf.2 - 4 1120 c.409G>A c.(409-411)Gat>Aat p.D137N NLRP11_uc002qlz.3_Missense_Mutation_p.D38N|NLRP11_uc002qmb.3_Missense_Mutation_p.D38N|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 137 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTGGTAGAATCATAGGCTAAT 0.363000 16 8 0 0 0.000442599 0 0 SAMSN1 64092 broad.mit.edu 37 21 15870784 15870784 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:15870784C>T uc002yju.1 - 6 980 c.898G>A c.(898-900)Gaa>Aaa p.E300K SAMSN1_uc010gky.1_Missense_Mutation_p.E132K|SAMSN1_uc002yjv.1_Missense_Mutation_p.E368K NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA. 300 SAM. negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 24 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) AGGAAGTTTTCAGCAGCTGAT 0.338000 48 16 0 0 0.000958276 0 0 DNAH8 1769 broad.mit.edu 37 6 38828393 38828393 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:38828393C>T uc021yzh.1 + 42 6228 c.6119C>T c.(6118-6120)cCa>cTa p.P2040L DNAH8_uc003ooe.2_Missense_Mutation_p.P1823L NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTTATCACTCCATTAACAGAT 0.284000 74 11 0 0 0.00136819 0 0 KIAA2022 340533 broad.mit.edu 37 X 73963906 73963906 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:73963906C>T uc004eby.3 - 2 1103 c.486G>A c.(484-486)ggG>ggA p.G162G NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 162 DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 TCAGACTGATCCCTGGCTCAG 0.448000 25 7 0 0 8.12818e-05 0 0 CACNA1C 775 broad.mit.edu 37 12 2693745 2693745 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:2693745G>A uc009zdu.1 + 15 2614 c.2301G>A c.(2299-2301)aaG>aaA p.K767K CACNA1C_uc001qkc.2_Silent_p.K767K|CACNA1C_uc001qjz.2_Silent_p.K767K|CACNA1C_uc001qkd.2_Silent_p.K767K|CACNA1C_uc001qke.2_Silent_p.K767K|CACNA1C_uc001qkf.2_Silent_p.K767K|CACNA1C_uc009zdw.1_Silent_p.K767K|CACNA1C_uc001qkg.2_Silent_p.K767K|CACNA1C_uc001qkh.2_Silent_p.K767K|CACNA1C_uc001qkl.2_Silent_p.K767K|CACNA1C_uc001qkj.2_Silent_p.K767K|CACNA1C_uc001qkk.2_Silent_p.K767K|CACNA1C_uc001qkn.2_Silent_p.K767K|CACNA1C_uc001qkm.2_Silent_p.K767K|CACNA1C_uc001qko.2_Silent_p.K767K|CACNA1C_uc001qkp.2_Silent_p.K767K|CACNA1C_uc001qkq.2_Silent_p.K767K|CACNA1C_uc001qku.2_Silent_p.K767K|CACNA1C_uc001qkr.2_Silent_p.K767K|CACNA1C_uc001qks.2_Silent_p.K767K|CACNA1C_uc001qkt.2_Silent_p.K767K|CACNA1C_uc009zdv.1_Silent_p.K764K|CACNA1C_uc001qkb.2_Silent_p.K767K|CACNA1C_uc001qka.1_Silent_p.K302K|CACNA1C_uc001qki.1_Silent_p.K503K NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 767 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CTGCCCaaaaggaggaggaag 0.517000 14 31 0 0 0.000339439 0 0 PTCRA 171558 broad.mit.edu 37 6 42890785 42890785 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:42890785C>T uc021yzp.1 + 1 160 c.79C>T c.(79-81)Cct>Tct p.P27S PTCRA_uc011duz.1_Silent_p.F37F|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.3_Intron|PTCRA_uc003osx.3_Missense_Mutation_p.P27S|PTCRA_uc010jxz.3_Intron NM_001243168 NP_001230097 Q6ISU1 PTCRA_HUMAN Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA. 27 integral to membrane receptor activity large_intestine(2)|lung(4)|ovary(2) 8 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CACACCCTTTCCTTCTCTGGC 0.587000 72 34 0 0 0.000692331 0 0 FSCN1 6624 broad.mit.edu 37 7 5643196 5643196 + Missense_Mutation SNP G C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:5643196G>C uc003sou.3 + 2 1191 c.1059G>C c.(1057-1059)aaG>aaC p.K353N FSCN1_uc003sov.3_Missense_Mutation_p.K75N NM_003088 NP_003079 Q16658 FSCN1_HUMAN Homo sapiens fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus) (FSCN1), mRNA. 353 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 9 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CCAATGGCAAGTTTGTGACCT 0.622000 119 16 0 0 0.000422831 0 0 NLRC3 197358 broad.mit.edu 37 16 3614281 3614281 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:3614281G>A uc010btn.3 - 4 1068 c.657C>T c.(655-657)gaC>gaT p.D219D NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA. 219 NACHT. I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CATCCAAGCCGTCCAGGATCA 0.637000 10 5 0 0 0.000602214 0 0 DPPA2 151871 broad.mit.edu 37 3 109019282 109019282 + Splice_Site SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:109019282C>T uc003dxo.3 - 8 1102 c.855_splice c.e8-1 p.R285_splice NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA. 285 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCTTCTTATTCCTGTAAGGCA 0.343000 84 32 0 0 0.000814825 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154987748 154987748 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:154987748C>T uc001fgj.4 + 4 999 c.714C>T c.(712-714)ccC>ccT p.P238P ZBTB7B_uc009wpa.3_Silent_p.P204P|ZBTB7B_uc001fgk.4_Silent_p.P204P|ZBTB7B_uc010peq.2_Silent_p.P238P|ZBTB7B_uc001fgl.4_Silent_p.P204P NM_015872 NP_056956 O15156 ZBT7B_HUMAN Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA. 204 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GCCGCAAGCCCCGGAAAGCTT 0.652000 20 18 0 0 0.000295444 0 0 GAD1 2571 broad.mit.edu 37 2 171705804 171705804 + Nonsense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:171705804G>A uc002ugi.3 + 11 1550 c.1128G>A c.(1126-1128)tgG>tgA p.W376* GAD1_uc010fqc.3_5'UTR NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 376 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGGCTGCCTGGGGAGGTGGGC 0.522000 5 19 0 0 0.00188189 0 0 FGD2 221472 broad.mit.edu 37 6 36982814 36982814 + Splice_Site SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:36982814G>A uc010jwp.1 + 8 1200 c.1029_splice c.e8+1 p.L343_splice FGD2_uc003ong.2_Splice_Site_p.L65_splice|FGD2_uc011dtv.1_Splice_Site|FGD2_uc003oni.1_Splice_Site_p.L149_splice NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA. 343 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ACCTTTTCTTGGTAAGAGGGT 0.617000 29 21 0 0 0.00047179 0 0 TDP2 51567 broad.mit.edu 37 6 24653343 24653343 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:24653343G>A uc003nej.3 - 5 700 c.675C>T c.(673-675)tcC>tcT p.S225S TDP2_uc010jpu.1_Silent_p.S225S NM_016614 NP_057698 O95551 TYDP2_HUMAN Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA. 225 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 TCTCCAAATGGGATGTCATAA 0.403000 Direct reversal of damage 338 63 0 0 0.000781405 0 0 TP63 8626 broad.mit.edu 37 3 189455644 189455644 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:189455644G>A uc003fry.2 + 1 267 c.178G>A c.(178-180)Gat>Aat p.D60N TP63_uc003frx.2_Missense_Mutation_p.D60N|TP63_uc003frz.2_Missense_Mutation_p.D60N|TP63_uc010hzc.1_Missense_Mutation_p.D60N NM_003722 NP_003713 Q9H3D4 P63_HUMAN Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA. 60 Transcription activation. DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) GCATATCTGGGATTTTCTGGA 0.388000 HNSCC(45;0.13) 25 7 0 0 0.000157383 0 0 FAM9A 171482 broad.mit.edu 37 X 8768137 8768137 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:8768137C>T uc022bsk.1 - 1 212 c.76G>A c.(76-78)Ggg>Agg p.G26R FAM9A_uc004csg.3_Missense_Mutation_p.G26R NM_001171186 NP_777611 Q8IZU1 FAM9A_HUMAN Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA. 26 nucleolus p.Q25K(1) endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) TTCGTGGCCCCCTGGGCGGCC 0.632000 31 18 0 0 0.00188189 0 0 MYL9 10398 broad.mit.edu 37 20 35173374 35173374 + Silent SNP C T T rs150788040 by1000genomes TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:35173374C>T uc002xfl.1 + 1 181 c.87C>T c.(85-87)tcC>tcT p.S29S BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Silent_p.S29S NM_006097 NP_006088 P24844 MYL9_HUMAN Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA. 29 EF-hand 1. axon guidance|muscle contraction|regulation of muscle contraction cytosol|muscle myosin complex calcium ion binding|structural constituent of muscle endometrium(2)|kidney(1)|large_intestine(3)|lung(2) 8 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) TTGACCAGTCCCAGATCCAGG 0.552000 47 20 0 0 0.00121646 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33751618 33751618 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:33751618G>A uc003jia.1 - 2 688 c.525C>T c.(523-525)ttC>ttT p.F175F ADAMTS12_uc010iuq.1_Silent_p.F175F|ADAMTS12_uc003jib.1_Silent_p.F175F NM_030955 NP_112217 P58397 ATS12_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA. 175 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.F174V(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 CGGGTTCAATGAAAAAGTCTC 0.418000 HNSCC(64;0.19) 22 23 0 0 0.000720815 0 0 LILRB5 10990 broad.mit.edu 37 19 54759385 54759385 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:54759385C>T uc010yer.1 - 4 800 c.689G>A c.(688-690)aGc>aAc p.S230N LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.S239N|LILRB5_uc002qez.3_Missense_Mutation_p.S139N|LILRB5_uc002qex.3_Missense_Mutation_p.S239N|LILRB5_uc002qfa.1_Missense_Mutation_p.S129N|LILRB5_uc010yes.1_Non-coding_Transcript O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 239 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CAGGGTCAGGCTGCCTCCGCG 0.617000 34 13 0 0 0.000308642 0 0 GDA 9615 broad.mit.edu 37 9 74828861 74828861 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:74828861C>T uc004air.3 + 4 741 c.532C>T c.(532-534)Cca>Tca p.P178S GDA_uc011lse.2_Missense_Mutation_p.P104S|GDA_uc004aiq.3_Missense_Mutation_p.P178S|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P104S|GDA_uc004ais.3_Missense_Mutation_p.P136S|GDA_uc004ait.1_Missense_Mutation_p.P104S NM_001242505 NP_001229434 Q9Y2T3 GUAD_HUMAN Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA. 178 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TGACACTTTTCCAGAATACAA 0.398000 10 24 0 0 0.00178596 0 0 OR5AC2 81050 broad.mit.edu 37 3 97806419 97806419 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:97806419C>T uc011bgs.2 + 0 403 c.403C>T c.(403-405)Cca>Tca p.P135S NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA. 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 28 CTTGCTTTATCCAGTGATGAT 0.423000 132 45 0 0 0.000781405 0 0 GORAB 92344 broad.mit.edu 37 1 170508353 170508353 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:170508353C>T uc001gha.2 + 1 166 c.139C>T c.(139-141)Cca>Tca p.P47S GORAB_uc009wvw.2_Silent_p.I109I|GORAB_uc001ggz.4_Missense_Mutation_p.P47S|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR NM_152281 NP_689494 Q5T7V8 GORAB_HUMAN Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA. 47 Golgi apparatus|nucleus endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 17 TTACATAGATCCATTTGAACC 0.363000 7 29 0 0 0.001512 0 0 PPYR1 5540 broad.mit.edu 37 10 47086993 47086993 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:47086993G>A uc001jee.3 + 2 629 c.210G>A c.(208-210)aaG>aaA p.K70K ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.K70K|PPYR1_uc021ppu.1_Silent_p.K70K NM_005972 NP_005963 P50391 NPY4R_HUMAN Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA. 70 blood circulation|digestion|feeding behavior integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 TGAGGCAGAAGGAGAAAGCCA 0.567000 67 34 0 0 0.000953801 0 0 PROS1 5627 broad.mit.edu 37 3 93611809 93611809 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:93611809C>T uc003drb.4 - 9 1464 c.1123G>A c.(1123-1125)Ggt>Agt p.G375S PROS1_uc010hoo.3_Missense_Mutation_p.G244S|PROS1_uc003dqz.4_Missense_Mutation_p.G244S NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 375 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) ATAACATCACCTCCAGTTGTG 0.358000 25 18 0 0 0.000295444 0 0 SPOCK1 6695 broad.mit.edu 37 5 136324265 136324265 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:136324265C>T uc003lbo.3 - 6 965 c.774G>A c.(772-774)atG>atA p.M258I SPOCK1_uc003lbp.3_Missense_Mutation_p.M258I NM_004598 NP_004589 Q08629 TICN1_HUMAN Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA. 258 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTCATAGTTCATGTCCAACT 0.498000 39 11 0 0 0.000673444 0 0 SORBS1 10580 broad.mit.edu 37 10 97096854 97096854 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr10:97096854G>A uc001kkp.3 - 27 3108 c.3063C>T c.(3061-3063)ctC>ctT p.L1021L SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Silent_p.L975L|SORBS1_uc010qoe.2_Intron NM_001034954 NP_001030126 Q9BX66 SRBS1_HUMAN Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA. 1021 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens SH3/SH2 adaptor activity|actin binding|insulin receptor binding NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) GTGACAAGGCGAGGTGGTCAG 0.607000 10 21 0 0 0.00188189 0 0 SPINT2 10653 broad.mit.edu 37 19 38779819 38779819 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:38779819T>C uc002ohr.2 + 3 814 c.379T>C c.(379-381)Ttc>Ctc p.F127L SPINT2_uc002ohs.2_Missense_Mutation_p.F70L NM_021102 NP_066925 O43291 SPIT2_HUMAN Homo sapiens serine peptidase inhibitor, Kunitz type, 2 (SPINT2), transcript variant a, mRNA. 127 cellular component movement cytoplasm|extracellular region|integral to membrane|soluble fraction serine-type endopeptidase inhibitor activity large_intestine(2)|lung(1)|ovary(1) 4 all_cancers(60;6.83e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAGCGATATGTTCAACTATGA 0.557000 64 26 0 0 0.00106085 0 0 FAM81B 153643 broad.mit.edu 37 5 94727130 94727130 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr5:94727130G>A uc003kla.1 + 0 83 c.37G>A c.(37-39)Gaa>Aaa p.E13K FAM81B_uc010jbe.1_5'Flank NM_152548 NP_689761 Q96LP2 FA81B_HUMAN Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA. 13 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) GGCTTCCTCAGAAAAAAGAAA 0.373000 37 18 0 0 0.00074312 0 0 PDE4B 5142 broad.mit.edu 37 1 66713297 66713297 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:66713297C>T uc001dcn.3 + 3 627 c.436C>T c.(436-438)Cca>Tca p.P146S PDE4B_uc009war.3_Missense_Mutation_p.P54S|PDE4B_uc001dco.3_Missense_Mutation_p.P146S|PDE4B_uc001dcp.3_Missense_Mutation_p.P131S NM_001037341 NP_002591 Q07343 PDE4B_HUMAN Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA. 146 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TGACTTGTCACCAAAGGCGAT 0.517000 10 34 0 0 0.000814825 0 0 KIAA0556 23247 broad.mit.edu 37 16 27692825 27692825 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:27692825T>C uc002dow.3 + 7 938 c.914T>C c.(913-915)tTc>tCc p.F305S KIAA0556_uc002dox.1_Missense_Mutation_p.F213S NM_015202 NP_056017 O60303 K0556_HUMAN Homo sapiens KIAA0556 (KIAA0556), mRNA. 305 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CCTGCTGTATTCCCAGACCAG 0.567000 82 51 0 0 0.000781405 0 0 SLC4A8 9498 broad.mit.edu 37 12 51888839 51888839 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:51888839G>A uc001rys.1 + 20 3058 c.2880G>A c.(2878-2880)ttG>ttA p.L960L SLC4A8_uc001rym.3_Silent_p.L907L|SLC4A8_uc001ryn.3_Silent_p.L907L|SLC4A8_uc001ryo.2_Silent_p.L907L|SLC4A8_uc010snj.2_Silent_p.L987L|SLC4A8_uc001ryr.3_Silent_p.L960L NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA. 960 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) TCATCCAGTTGACCTGTCTCG 0.483000 16 32 0 0 0.000692331 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955651 18955651 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:18955651G>A uc001mpg.3 - 0 899 c.681C>T c.(679-681)ctC>ctT p.L227L NM_147199 NP_671732 Q96LB2 MRGX1_HUMAN Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA. 227 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 GCAGGCCACAGAGGAGGAAGA 0.488000 24 10 0 0 0.000442599 0 0 AZGP1 563 broad.mit.edu 37 7 99564768 99564768 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:99564768C>T uc003ush.3 - 3 847 c.755G>A c.(754-756)gGa>gAa p.G252E NM_001185 NP_001176 P25311 ZA2G_HUMAN Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA. 252 Ig-like C1-type. antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation MHC class I protein complex|extracellular region fatty acid binding|protein transmembrane transporter activity|ribonuclease activity p.R251W(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1) 16 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) AAGAACATCTCCCCGTAACTC 0.582000 44 8 0 0 0.000673444 0 0 SCN5A 6331 broad.mit.edu 37 3 38591868 38591868 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:38591868C>T uc021wvo.1 - 26 6047 c.5995G>A c.(5995-5997)Gaa>Aaa p.E1999K SCN5A_uc021wvk.1_Missense_Mutation_p.E1966K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1945K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1981K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1998K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1999K|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.E1811K|SCN5A_uc021wvi.1_Missense_Mutation_p.E1865K NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 1999 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCGAGATCTTCACTGTGGCTG 0.592000 74 33 0 0 0.00128727 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296465 39296465 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:39296465G>A uc010cxk.2 - 0 275 c.275C>T c.(274-276)cCc>cTc p.P92L NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 88 29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GCAGCACTGGGGTCTGCAGCA 0.657000 42 11 0 0 0.000978159 0 0 EP400 57634 broad.mit.edu 37 12 132547093 132547093 + Silent SNP A G G rs60608267 by1000genomes TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:132547093A>G uc001ujn.3 + 46 8333 c.8181A>G c.(8179-8181)caA>caG p.Q2727Q EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN Homo sapiens E1A binding protein p400 (EP400), mRNA. 2763 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2726Q(18) NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) agcagcaacaacagcagcagc 0.567000 46 4 0 0 0.00024832 0 0 FOXD4 2298 broad.mit.edu 37 9 117497 117498 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:117497_117498CC>TT uc003zfz.3 - 0 920_921 c.622_623GG>AA c.(622-624)gga>AAa p.G208K NM_207305 NP_997188 Q12950 FOXD4_HUMAN Homo sapiens forkhead box D4 (FOXD4), mRNA. 208 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3) 14 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CAGGTGGGCTCCCGGGGTCGGT 0.698000 40 52 0 0 6.4e-05 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48602382 48602382 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:48602382C>T uc010wmr.2 + 12 2071 c.1909C>T c.(1909-1911)Ccg>Tcg p.P637S MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 600 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CAGAAATCCTCCGGTGAGGCC 0.662000 35 37 0 0 0.00170553 0 0 EPHA2 1969 broad.mit.edu 37 1 16464803 16464804 + Missense_Mutation DNP CC TT TT TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:16464803_16464804CC>TT uc001aya.2 - 3 1100_1101 c.945_946GG>AA c.(943-948)cgggca>cgAAca p.A316T EPHA2_uc010oca.2_Missense_Mutation_p.A316T NM_004431 NP_004422 P29317 EPHA2_HUMAN Homo sapiens EPH receptor A2 (EPHA2), mRNA. 316 Cys-rich. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 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;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) TCCTGAGGTGCCCGGAAGAAGC 0.634000 2 9 0 0 6.4e-05 0 0 LOC441601 441601 broad.mit.edu 37 11 50252703 50252703 + RNA SNP A G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:50252703A>G uc001nhd.3 - 2 c.493T>C Homo sapiens septin 7 pseudogene (LOC441601), non-coding RNA. AGTATGAACAACACTGCACCC 0.398000 58 23 0 0 0.00047179 0 0 PEG3 5178 broad.mit.edu 37 19 57327355 57327355 + Missense_Mutation SNP G A A rs143073381 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:57327355G>A uc002qnu.2 - 6 2806 c.2455C>T c.(2455-2457)Cgt>Tgt p.R819C PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R790C|PEG3_uc002qnv.2_Missense_Mutation_p.R819C|PEG3_uc002qnw.2_Missense_Mutation_p.R695C|PEG3_uc002qnx.2_Missense_Mutation_p.R693C|PEG3_uc010etr.2_Missense_Mutation_p.R819C NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 819 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R819C(3)|p.R819H(1) NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTCCAGCACGAACTCTCTGA 0.458000 46 10 0 0 0.000442599 0 0 OTOF 9381 broad.mit.edu 37 2 26712547 26712547 + Splice_Site SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:26712547G>A uc002rhk.3 - 10 1087 c.960_splice c.e10+1 p.S320_splice NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 320 C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCACTCACCGAAATCTTGAT 0.567000 7 28 0 0 0.000339439 0 0 LRP12 29967 broad.mit.edu 37 8 105503038 105503038 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:105503038G>A uc003yma.3 - 6 2570 c.2443C>T c.(2443-2445)Cct>Tct p.P815S LRP12_uc003ymb.3_Missense_Mutation_p.P796S|LRP12_uc003ylz.3_Missense_Mutation_p.P221S NM_013437 NP_038465 Q9Y561 LRP12_HUMAN Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA. 815 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTACTCCAGGATTTGTTGCA 0.458000 37 7 0 0 0.000157383 0 0 SCMH1 22955 broad.mit.edu 37 1 41540948 41540948 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:41540948G>A uc001cgo.3 - 8 1260 c.891C>T c.(889-891)tcC>tcT p.S297S SCMH1_uc010ojr.2_Silent_p.S139S|SCMH1_uc001cgp.3_Silent_p.S236S|SCMH1_uc001cgr.3_Silent_p.S236S|SCMH1_uc001cgq.3_Silent_p.S250S|SCMH1_uc001cgs.3_Silent_p.S307S|SCMH1_uc001cgt.3_Silent_p.S236S|SCMH1_uc010ojs.1_Non-coding_Transcript NM_001031694 NP_001165692 Q96GD3 SCMH1_HUMAN Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA. 297 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CAGCTGTCTTGGATGGGGCAG 0.507000 27 85 0 0 0.000781405 0 0 TAGAP 117289 broad.mit.edu 37 6 159462447 159462447 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:159462447T>C uc003qrz.3 - 5 748 c.416A>G c.(415-417)aAc>aGc p.N139S TAGAP_uc011eft.2_Missense_Mutation_p.N76S|TAGAP_uc003qsa.3_5'UTR|TAGAP_uc003qsb.3_Missense_Mutation_p.N139S NM_054114 NP_687034 Q8N103 TAGAP_HUMAN Homo sapiens T-cell activation RhoGTPase activating protein (TAGAP), transcript variant 2, mRNA. 139 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ATCCCCAGAGTTGAGCTCCTC 0.537000 10 17 0 0 0.000566183 0 0 RLIM 51132 broad.mit.edu 37 X 73812706 73812706 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:73812706C>T uc004ebu.3 - 4 734 c.444G>A c.(442-444)ggG>ggA p.G148G RLIM_uc004ebw.3_Silent_p.G148G NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA. 148 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding p.G148R(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AATTTTGGCTCCCATTATTAC 0.418000 91 61 0 0 0.000781405 0 0 ZEB2 9839 broad.mit.edu 37 2 145157015 145157015 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:145157015G>A uc002tvu.3 - 7 2261 c.1739C>T c.(1738-1740)cCa>cTa p.P580L ZEB2_uc010zbm.2_Missense_Mutation_p.P556L|ZEB2_uc002tvv.3_Missense_Mutation_p.P574L|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.P609L NM_014795 NP_055610 O60315 ZEB2_HUMAN Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA. 580 cytoplasm|nucleolus SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) GCATGAAAATGGAGTGGATAT 0.393000 17 46 0 0 0.000781405 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19511354 19511354 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:19511354C>T uc001reb.3 + 20 2941 c.2833C>T c.(2833-2835)Cca>Tca p.P945S PLEKHA5_uc010sie.2_Missense_Mutation_p.P1106S|PLEKHA5_uc001rea.3_Missense_Mutation_p.P1003S|PLEKHA5_uc009zin.3_Missense_Mutation_p.P703S|PLEKHA5_uc010sig.2_Missense_Mutation_p.P927S|PLEKHA5_uc010sih.1_Missense_Mutation_p.P900S|PLEKHA5_uc021qvy.1_Missense_Mutation_p.P934S|PLEKHA5_uc001rec.1_Missense_Mutation_p.P754S|PLEKHA5_uc009zio.3_Missense_Mutation_p.P211S NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA. 945 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) AAGGGATAATCCATTTAGGAC 0.363000 8 24 0 0 0.00127121 0 0 CPA6 57094 broad.mit.edu 37 8 68536417 68536417 + Silent SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:68536417T>C uc003xxq.4 - 1 442 c.186A>G c.(184-186)caA>caG p.Q62Q CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Silent_p.Q62Q NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 62 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTACCTTAAGTTGATAGGATA 0.323000 31 13 0 0 0.000308642 0 0 PHKB 5257 broad.mit.edu 37 16 47644739 47644739 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:47644739G>A uc002eev.4 + 13 1418 c.1366G>A c.(1366-1368)Gat>Aat p.D456N PHKB_uc002eeu.4_Missense_Mutation_p.D449N NM_000293 NP_000284 Q93100 KPBB_HUMAN Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. 456 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) TTTTTCAGCTGATGAACTTAT 0.363000 11 6 0 0 8.12818e-05 0 0 C2CD2L 9854 broad.mit.edu 37 11 118981290 118981290 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:118981290C>T uc001pvn.3 + 2 829 c.470C>T c.(469-471)tCt>tTt p.S157F C2CD2L_uc001pvo.3_Missense_Mutation_p.S157F NM_014807 NP_055622 O14523 C2C2L_HUMAN Homo sapiens C2CD2-like (C2CD2L), mRNA. 157 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 TGCCAGCTCTCTGCTGAGGAG 0.612000 8 8 0 0 0.000274275 0 0 HIF3A 64344 broad.mit.edu 37 19 46811951 46811951 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:46811951G>A uc002peh.3 + 4 511 c.480G>A c.(478-480)acG>acA p.T160T HIF3A_uc002pef.2_Silent_p.T160T|HIF3A_uc002peg.4_Silent_p.T160T|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.T104T|HIF3A_uc002pej.2_Silent_p.T91T|HIF3A_uc010xxy.2_Silent_p.T91T|HIF3A_uc002pel.3_Silent_p.T158T|HIF3A_uc010xxz.2_Silent_p.T109T NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA. 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) AGGCCCCCACGGAGCGGTGCT 0.711000 8 8 0 0 0.000274275 0 0 FMO3 2328 broad.mit.edu 37 1 171083218 171083218 + Missense_Mutation SNP A C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:171083218A>C uc001ghi.3 + 6 1010 c.899A>C c.(898-900)aAg>aCg p.K300T FMO3_uc001ghh.3_Missense_Mutation_p.K300T|FMO3_uc010pmb.2_Missense_Mutation_p.K280T|FMO3_uc010pmc.2_Missense_Mutation_p.K237T NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 300 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GTGTCCGTAAAGCCTAACGTG 0.438000 4 7 0 0 0.000274275 0 0 TLR4 7099 broad.mit.edu 37 9 120474949 120474949 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:120474949C>T uc004bjz.3 + 2 834 c.543C>T c.(541-543)gaC>gaT p.D181D TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_Silent_p.D141D NM_138554 NP_612564 O00206 TLR4_HUMAN Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA. 181 I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 AGCACTTGGACCTTTCCAGCA 0.383000 6 14 0 0 0.000219431 0 0 NOS3 4846 broad.mit.edu 37 7 150697640 150697640 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:150697640G>A uc003wif.3 + 9 1482 c.1186G>A c.(1186-1188)Gac>Aac p.D396N NOS3_uc011kuy.2_Missense_Mutation_p.D190N|NOS3_uc011kva.2_Missense_Mutation_p.D396N|NOS3_uc011kuz.2_Missense_Mutation_p.D396N|NOS3_uc011kvb.2_Missense_Mutation_p.D396N NM_000603 NP_000594 P29474 NOS3_HUMAN Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA. 396 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia Golgi membrane|caveola|cytoskeleton|cytosol FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTGTGGAAAGACAAGGCAGC 0.602000 58 8 0 0 0.000274275 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11253759 11253759 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:11253759G>A uc001ase.3 + 2 839 c.600G>A c.(598-600)ggG>ggA p.G200G MTOR_uc001asd.3_Intron NM_021146 NP_066969 O43827 ANGL7_HUMAN Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA. 200 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) GCATCCGTGGGGACTTCTGGC 0.602000 7 29 0 0 0.000339439 0 0 MYH7B 57644 broad.mit.edu 37 20 33584489 33584489 + Missense_Mutation SNP A T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:33584489A>T uc002xbi.2 + 29 3637 c.3320A>T c.(3319-3321)gAc>gTc p.D1107V NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA. 1065 membrane|myosin filament ATP binding|actin binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) CTGGAGGGTGACCTGAAGCTG 0.627000 26 7 0 0 0.000157383 0 0 RNF152 220441 broad.mit.edu 37 18 59483343 59483343 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:59483343G>A uc002lih.1 - 1 766 c.354C>T c.(352-354)ggC>ggT p.G118G RNF152_uc021ula.1_Silent_p.G118G NM_173557 NP_775828 Q8N8N0 RN152_HUMAN Homo sapiens ring finger protein 152 (RNF152), mRNA. 118 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GCAGGCGGCAGCCCATGTCTC 0.657000 10 27 0 0 0.00178596 0 0 NBPF10 100132406 broad.mit.edu 37 1 144828683 144828683 + Missense_Mutation SNP C G G TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:144828683C>G uc009wig.1 + 21 2916 c.2722C>G c.(2722-2724)Cag>Gag p.Q908E NBPF10_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF10_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF10_uc021oth.1_Missense_Mutation_p.Q570E|NBPF10_uc021otj.1_Missense_Mutation_p.Q937E|NBPF10_uc021oto.1_Missense_Mutation_p.Q725E|NBPF10_uc021otr.1_Missense_Mutation_p.Q237E|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 910 p.Q577E(1) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ATTTGAGGAACAGCACATCAG 0.438000 72 39 0 0 0.000509022 0 0 PGRMC1 10857 broad.mit.edu 37 X 118370369 118370369 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:118370369G>A uc004erb.3 + 0 159 c.43G>A c.(43-45)Gat>Aat p.D15N PGRMC1_uc011mts.2_Missense_Mutation_p.D15N NM_006667 NP_006658 O00264 PGRC1_HUMAN Homo sapiens progesterone receptor membrane component 1 (PGRMC1), mRNA. 15 cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus heme binding|protein binding|receptor activity|steroid binding lung(6) 6 CGACCCAAGCGATCTGGAGAG 0.617000 36 27 0 0 0.000339439 0 0 OR10X1 128367 broad.mit.edu 37 1 158549379 158549379 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:158549379T>C uc010pin.2 - 0 311 c.311A>G c.(310-312)aAg>aGg p.K104R NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA. 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) GCTTCTGTCCTTGGCCAGTAG 0.478000 9 13 0 0 0.00185496 0 0 OR1L8 138881 broad.mit.edu 37 9 125330655 125330655 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:125330655G>A uc004bmp.1 - 0 102 c.102C>T c.(100-102)atC>atT p.I34I NM_001004454 NP_001004454 Q8NGR8 OR1L8_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA. 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L33F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 CCAGGTACACGATGAGGAAGA 0.498000 10 15 0 0 0.000219431 0 0 FMNL3 91010 broad.mit.edu 37 12 50044652 50044652 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:50044652G>A uc001ruv.1 - 16 2041 c.1807C>T c.(1807-1809)Ctt>Ttt p.L603F FMNL3_uc001ruw.1_Missense_Mutation_p.L552F|FMNL3_uc001rut.1_Missense_Mutation_p.L169F|FMNL3_uc001ruu.1_Missense_Mutation_p.L453F NM_175736 NP_783863 Q8IVF7 FMNL3_HUMAN Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA. 603 FH2. actin cytoskeleton organization Rho GTPase binding|actin binding breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1) 39 AACTTATCAAGATCCAGGTCC 0.512000 7 34 0 0 0.000953801 0 0 PROKR2 128674 broad.mit.edu 37 20 5282770 5282770 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:5282770C>T uc010zqw.2 - 1 1079 c.1071G>A c.(1069-1071)cgG>cgA p.R357R PROKR2_uc010zqx.2_Silent_p.R357R|PROKR2_uc010zqy.2_Silent_p.R357R NM_144773 NP_658986 Q8NFJ6 PKR2_HUMAN Homo sapiens prokineticin receptor 2 (PROKR2), mRNA. 357 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 ACTTGCTCCCCCGCTGGGAGG 0.557000 HNSCC(71;0.22) 34 36 0 0 0.000491102 0 0 KRT12 3859 broad.mit.edu 37 17 39023211 39023211 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:39023211G>A uc002hvk.2 - 0 252 c.228C>T c.(226-228)tcC>tcT p.S76S NM_000223 NP_000214 Q99456 K1C12_HUMAN Homo sapiens keratin 12 (KRT12), mRNA. 76 Gly-rich.|Head. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CTCCTGCCATGGAACTTCCGG 0.612000 49 50 0 0 0.000781405 0 0 OR52M1 119772 broad.mit.edu 37 11 4566960 4566960 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:4566960C>T uc010qyf.2 + 0 540 c.540C>T c.(538-540)tcC>tcT p.S180S NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCCCACTCCTACTGTGAGC 0.527000 29 37 0 0 0.00128727 0 0 OR6X1 390260 broad.mit.edu 37 11 123624487 123624487 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:123624487G>A uc010rzy.2 - 0 740 c.740C>T c.(739-741)tCc>tTc p.S247F NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA. 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S247Y(2) breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GTAGAGCAGGGAGACAACTGT 0.468000 27 6 0 0 8.12818e-05 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671500 39671500 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr21:39671500C>T uc021wjc.1 + 0 317 c.317C>T c.(316-318)cCc>cTc p.P106L KCNJ15_uc002ywv.3_Missense_Mutation_p.P106L|KCNJ15_uc002yww.3_Missense_Mutation_p.P106L|KCNJ15_uc002ywx.3_Missense_Mutation_p.P106L NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 106 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 AATCATACCCCCTGCATCATG 0.478000 54 23 0 0 0.00047179 0 0 RNF10 9921 broad.mit.edu 37 12 120990331 120990331 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:120990331C>T uc001typ.4 + 2 867 c.384C>T c.(382-384)agC>agT p.S128S RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Silent_p.S34S NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 128 Interaction with MEOX2. negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGAGTTTAGCCCTGCCCAGT 0.453000 11 33 0 0 0.00128727 0 0 PLS3 5358 broad.mit.edu 37 X 114880811 114880811 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:114880811G>A uc004eqe.3 + 12 1601 c.1467G>A c.(1465-1467)ggG>ggA p.G489G PLS3_uc010nqg.3_Silent_p.G271G|PLS3_uc004eqd.3_Silent_p.G489G|PLS3_uc011mtf.2_Silent_p.G476G|PLS3_uc011mth.2_Silent_p.G444G|PLS3_uc011mtg.2_Silent_p.G462G|PLS3_uc011mti.2_Silent_p.G165G|PLS3_uc011mtj.2_Silent_p.G83G|PLS3_uc011mtl.2_Non-coding_Transcript NM_001136025 NP_005023 P13797 PLST_HUMAN Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA. 489 Actin-binding 2.|CH 3. cytoplasm actin binding|calcium ion binding p.G489E(1) NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11) 26 TGAATGATGGGAACCAAACCC 0.423000 56 39 0 0 0.00148497 0 0 MUC16 94025 broad.mit.edu 37 19 9014552 9014552 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:9014552C>T uc002mkp.3 - 30 38627 c.38423G>A c.(38422-38424)aGa>aAa p.R12808K MUC16_uc021uog.1_5'Flank NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12810 SEA 5. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGACTGTTTCTGTCCAGGGT 0.552000 63 55 0 0 0.000781405 0 0 CPS1 1373 broad.mit.edu 37 2 211542674 211542674 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:211542674C>T uc010fur.3 + 38 4568 c.4486C>T c.(4486-4488)Cac>Tac p.H1496Y CPS1_uc002vee.4_Missense_Mutation_p.H1490Y|CPS1_uc010fus.3_Missense_Mutation_p.H1039Y NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 1490 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAGTCTTTTCCACTACAGGCA 0.448000 20 60 0 0 0.000781405 0 0 KCNK9 51305 broad.mit.edu 37 8 140631332 140631332 + Missense_Mutation SNP G C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:140631332G>C uc003yvf.1 - 1 358 c.294C>G c.(292-294)caC>caG p.H98Q KCNK9_uc003yvg.1_Missense_Mutation_p.H98Q|KCNK9_uc003yve.1_Non-coding_Transcript NM_016601 NP_057685 Q9NPC2 KCNK9_HUMAN Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA. 98 integral to membrane|membrane fraction potassium channel activity|voltage-gated ion channel activity p.H98H(2) NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1) 43 all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;0.134) BRCA - Breast invasive adenocarcinoma(115;0.0855) CAGGTGCAGCGTGCCCATAAC 0.612000 25 6 0 0 8.12818e-05 0 0 OR2B2 81697 broad.mit.edu 37 6 27879876 27879876 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:27879876G>A uc011dkw.2 - 0 299 c.222C>T c.(220-222)acC>acT p.T74T NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA. 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 CTGTACTTGTGGTATAGCAAA 0.428000 46 18 0 0 0.00121646 0 0 SCGB1D1 10648 broad.mit.edu 37 11 61959560 61959560 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:61959560G>A uc001nsz.1 + 1 135 c.88G>A c.(88-90)Gaa>Aaa p.E30K NM_006552 NP_006543 O95968 SG1D1_HUMAN Homo sapiens secretoglobin, family 1D, member 1 (SCGB1D1), mRNA. 30 extracellular space binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1) 9 TCTTGGTTCTGAAATCACAGG 0.423000 15 26 0 0 0.001512 0 0 PMPCB 9512 broad.mit.edu 37 7 102937950 102937950 + Missense_Mutation SNP G A A rs1060201 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:102937950G>A uc003vbk.1 + 0 78 c.44G>A c.(43-45)cGg>cAg p.R15Q PMPCB_uc010liu.1_Missense_Mutation_p.R15Q|PMPCB_uc003vbl.3_Missense_Mutation_p.R15Q|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank NM_004279 NP_004270 O75439 MPPB_HUMAN Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA. 15 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TCCGCGGCGCGGCGGCGGCTC 0.647000 OREG0018240 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 89 0 0 0.000781405 0 0 TXNDC5 81567 broad.mit.edu 37 6 7904916 7904917 + Silent DNP GG AA AA TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:7904916_7904917GG>AA uc003mxv.3 - 1 341_342 c.303_304CC>TT c.(301-306)gacctg>gaTTtg p.101_102DL>DL TXNDC5_uc003mxw.3_Silent_p.58_59DL>DL|TXNDC5_uc010jnz.3_5'UTR|TXNDC5_uc010joa.2_5'UTR NM_030810 NP_001139021 Q8NBS9 TXND5_HUMAN Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA. 101 Thioredoxin 1. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2) 22 Ovarian(93;0.0398) TTGTCTCCCAGGTCATTCCAAG 0.574000 68 15 0 0 6.4e-05 0 0 DNAH9 1770 broad.mit.edu 37 17 11872750 11872750 + Missense_Mutation SNP G C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:11872750G>C uc002gne.3 + 68 13435 c.13367G>C c.(13366-13368)cGg>cCg p.R4456P DNAH9_uc010coo.3_Missense_Mutation_p.R3674P|DNAH9_uc002gnf.3_Missense_Mutation_p.R768P NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 4456 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACTAGTCAGCGGGGACCCACC 0.517000 12 12 0 0 0.00136819 0 0 TDGF1P3 6998 broad.mit.edu 37 X 109764262 109764262 + RNA SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:109764262C>T uc004eos.1 + 0 c.723C>T Homo sapiens teratocarcinoma-derived growth factor 1 pseudogene 3 (TDGF1P3), non-coding RNA. TTGCCATTTTCGCTTTAGGAG 0.448000 18 15 0 0 0.000422831 0 0 AGPAT1 10554 broad.mit.edu 37 6 32137188 32137188 + Silent SNP C A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:32137188C>A uc003oae.3 - 6 1052 c.717G>T c.(715-717)acG>acT p.T239T EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Silent_p.T203T|AGPAT1_uc003oag.3_Silent_p.T129T|AGPAT1_uc003oah.3_Silent_p.T239T|AGPAT1_uc003oai.1_Silent_p.T239T|AGPAT1_uc011dpl.2_Silent_p.T127T NM_006411 NP_116130 Q99943 PLCA_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA. 239 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity p.T239T(2) central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 TCAGCCCTTCCGTGGGCACTG 0.637000 695 10 0.000673444 0.00437106 0.000673444 1 0 ZNF335 63925 broad.mit.edu 37 20 44589153 44589153 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr20:44589153G>A uc002xqw.3 - 12 1917 c.1794C>T c.(1792-1794)tcC>tcT p.S598S ZNF335_uc010zxk.2_Silent_p.S443S NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN Homo sapiens zinc finger protein 335 (ZNF335), mRNA. 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GCTTCTTAAAGGACTTTCCAC 0.617000 41 16 0 0 0.000308642 0 0 ELFN2 114794 broad.mit.edu 37 22 37771217 37771217 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr22:37771217C>T uc003asq.4 - 2 1144 c.358G>A c.(358-360)Gag>Aag p.E120K ELFN2_uc021wph.1_Missense_Mutation_p.E120K NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA. 120 cell surface|integral to membrane p.E120K(2) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) AGCATGCCCTCCGTCAGGTTG 0.622000 62 20 0 0 0.00121646 0 0 SLC6A2 6530 broad.mit.edu 37 16 55727956 55727956 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:55727956C>T uc021tio.1 + 5 1004 c.953C>T c.(952-954)tCc>tTc p.S318F SLC6A2_uc002eif.3_Missense_Mutation_p.S318F|SLC6A2_uc002eig.3_Missense_Mutation_p.S318F|SLC6A2_uc002eii.3_Missense_Mutation_p.S213F|SLC6A2_uc002eij.3_Missense_Mutation_p.S32F NM_001172504 NP_001165975 P23975 SC6A2_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA. 318 synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity p.S318fs*19(2) breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) ATATTTTTTTCCTTGGGGGCT 0.438000 52 20 0 0 0.00047179 0 0 ZNF527 84503 broad.mit.edu 37 19 37879696 37879696 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:37879696C>T uc010efk.1 + 4 856 c.745C>T c.(745-747)Cat>Tat p.H249Y ZNF527_uc002ogf.3_Missense_Mutation_p.H217Y|ZNF527_uc010xtq.1_Non-coding_Transcript NM_032453 NP_115829 Q8NB42 ZN527_HUMAN Homo sapiens zinc finger protein 527 (ZNF527), mRNA. 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTATGAAAGTCATGATTTTTC 0.368000 54 20 0 0 0.000295444 0 0 ITGAE 3682 broad.mit.edu 37 17 3680914 3680914 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:3680914C>T uc002fwo.4 - 1 174 c.75G>A c.(73-75)cgG>cgA p.R25R NM_002208 NP_002199 P38570 ITAE_HUMAN Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA. 25 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) TGAGCCAGGGCCGGGCCACAT 0.597000 56 23 0 0 0.000720815 0 0 DNAH9 1770 broad.mit.edu 37 17 11837243 11837243 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:11837243G>A uc002gne.3 + 64 12412 c.12344G>A c.(12343-12345)gGa>gAa p.G4115E DNAH9_uc010coo.3_Missense_Mutation_p.G3333E|DNAH9_uc002gnf.3_Missense_Mutation_p.G427E NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 4115 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATCATGTATGGAGGCCATATC 0.493000 40 25 0 0 0.00106085 0 0 DDX11L11 0 broad.mit.edu 37 12 92018 92018 + Missense_Mutation SNP T C C TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:92018T>C uc010sdi.1 - 1 320 c.292A>G c.(292-294)Agt>Ggt p.S98G DDX11L11_uc010sdj.1_Non-coding_Transcript SubName: Full=DEAD/H box polypeptide 11 like 11; GACTCCACACTCTCCTGGGTT 0.592000 3 3 0 0 6.4e-05 0 0 OR4C12 283093 broad.mit.edu 37 11 50003708 50003708 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:50003708G>A uc010ria.2 - 0 364 c.330C>T c.(328-330)atC>atT p.I110I NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA. 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TCAGCAGGATGATCTCAGTAG 0.458000 36 45 0 0 0.000781405 0 0 SLC4A10 57282 broad.mit.edu 37 2 162813650 162813650 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr2:162813650G>A uc002ubx.4 + 19 2877 c.2693G>A c.(2692-2694)gGa>gAa p.G898E SLC4A10_uc010zcs.2_Missense_Mutation_p.G879E|SLC4A10_uc002uby.4_Missense_Mutation_p.G868E NM_001178015 NP_001171486 Q6U841 S4A10_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA. 898 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity p.T897N(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TCAGCTCCAGGAGAACAACCC 0.458000 0 4 0 0 0.00116845 0 0 FOXH1 8928 broad.mit.edu 37 8 145699638 145699638 + Missense_Mutation SNP A T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:145699638A>T uc003zdc.3 - 2 1660 c.1081T>A c.(1081-1083)Tcc>Acc p.S361T NM_003923 NP_003914 O75593 FOXH1_HUMAN Homo sapiens forkhead box H1 (FOXH1), mRNA. 361 axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CTGCACCAGGAGAGCAGCCAG 0.662000 17 9 0 0 0.000442599 0 0 PTRH1 138428 broad.mit.edu 37 9 130476437 130476437 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr9:130476437G>A uc004bro.3 - 4 1907 c.587C>T c.(586-588)aCc>aTc p.T196I PTRH1_uc004brm.3_Intron|PTRH1_uc010mxm.3_Missense_Mutation_p.P194S|PTRH1_uc011mah.2_Missense_Mutation_p.T196I|TTC16_uc004brq.1_5'Flank|TTC16_uc011mai.1_5'Flank|TTC16_uc004brr.1_5'Flank NM_001002913 NP_001002913 Q86Y79 PTH_HUMAN Homo sapiens peptidyl-tRNA hydrolase 1 homolog (S. cerevisiae) (PTRH1), mRNA. 196 translation aminoacyl-tRNA hydrolase activity|protein binding NS(1) 1 GATCAGGTCGGTGGCTCGATC 0.662000 2 8 0 0 0.000274275 0 0 DSG1 1828 broad.mit.edu 37 18 28926126 28926126 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr18:28926126C>T uc002kwp.3 + 13 2277 c.2065C>T c.(2065-2067)Ctg>Ttg p.L689L DSG1_uc010xbp.2_Silent_p.L48L|U6_uc021uin.1_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN Homo sapiens desmoglein 1 (DSG1), mRNA. 689 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGAAGGAGGTCTGAATATGAA 0.428000 4 12 0 0 0.000219431 0 0 PAX6 5080 broad.mit.edu 37 11 31815095 31815095 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:31815095G>A uc009yjr.3 - 10 1392 c.923C>T c.(922-924)tCc>tTc p.S308F PAX6_uc001mtd.4_Missense_Mutation_p.S308F|PAX6_uc001mte.4_Missense_Mutation_p.S308F|PAX6_uc001mtg.4_Missense_Mutation_p.S322F|PAX6_uc001mtf.4_Missense_Mutation_p.S308F|PAX6_uc001mth.4_Missense_Mutation_p.S308F|PAX6_uc021qfl.1_Missense_Mutation_p.S322F|PAX6_uc021qfm.1_Missense_Mutation_p.S322F|PAX6_uc021qfn.1_Missense_Mutation_p.S308F NM_001127612 NP_001121084 P26367 PAX6_HUMAN Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA. 308 Pro/Ser/Thr-rich. blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) AGATGTGAAGGAGGAAACTGA 0.488000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 52 22 0 0 0.00152264 0 0 TRIM31 11074 broad.mit.edu 37 6 30079500 30079500 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:30079500G>A uc003npg.1 - 2 548 c.438C>T c.(436-438)atC>atT p.I146I TRIM31_uc003npi.3_Non-coding_Transcript NM_007028 NP_008959 Q9BZY9 TRI31_HUMAN Homo sapiens tripartite motif containing 31 (TRIM31), mRNA. 146 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 GCAAGACTTGGATCTGCTCTT 0.512000 72 172 0 0 0.000781405 0 0 UNC119B 84747 broad.mit.edu 37 12 121154827 121154827 + Missense_Mutation SNP C A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr12:121154827C>A uc001tyz.3 + 3 1072 c.625C>A c.(625-627)Cag>Aag p.Q209K NM_001080533 NP_001074002 A6NIH7 U119B_HUMAN Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA. 209 breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TGAGTTTCCCCAGCTTTCGGA 0.473000 93 264 5.36533e-145 3.53218e-144 0.000781405 1 0 GON4L 54856 broad.mit.edu 37 1 155735878 155735878 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:155735878G>A uc001flz.2 - 20 3483 c.3386C>T c.(3385-3387)cCc>cTc p.P1129L GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Non-coding_Transcript|GON4L_uc001fly.1_Missense_Mutation_p.P1129L|GON4L_uc009wrh.1_Missense_Mutation_p.P1129L|GON4L_uc001fma.1_Missense_Mutation_p.P1129L|GON4L_uc001fmb.4_Missense_Mutation_p.P325L|GON4L_uc001fmc.3_Missense_Mutation_p.P1129L|GON4L_uc001fmd.4_Missense_Mutation_p.P1129L|GON4L_uc009wri.3_Missense_Mutation_p.P715L NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA. 1129 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TTTCATACAGGGAGAGGCCTT 0.527000 66 11 0 0 0.00185496 0 0 SLC9A6 10479 broad.mit.edu 37 X 135106572 135106572 + Silent SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:135106572C>T uc004ezk.3 + 11 1622 c.1546C>T c.(1546-1548)Ctg>Ttg p.L516L SLC9A6_uc011mvx.2_Silent_p.L464L|SLC9A6_uc004ezj.3_Silent_p.L484L NM_001042537 NP_001036002 Q92581 SL9A6_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA. 484 regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(192;0.000127) CACCACGCTTCTGATTGTGTT 0.468000 65 24 0 0 0.000720815 0 0 SIGLEC7 27036 broad.mit.edu 37 19 51645996 51645996 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:51645996C>T uc002pvv.1 + 0 439 c.370C>T c.(370-372)Cgt>Tgt p.R124C SIGLEC7_uc002pvw.1_Missense_Mutation_p.R124C|SIGLEC7_uc010eoq.1_Non-coding_Transcript|SIGLEC7_uc010eor.1_Missense_Mutation_p.R124C NM_014385 NP_055200 Q9Y286 SIGL7_HUMAN Homo sapiens sialic acid binding Ig-like lectin 7 (SIGLEC7), transcript variant 1, mRNA. 124 cell adhesion integral to plasma membrane receptor activity|sugar binding p.R124C(2)|p.R124H(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1) 29 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297) ATACTTCTTTCGTATGGAGAA 0.478000 59 27 0 0 0.000878237 0 0 ASB15 142685 broad.mit.edu 37 7 123264737 123264737 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:123264737G>A uc003vku.1 + 7 858 c.566G>A c.(565-567)cGa>cAa p.R189Q ASB15_uc003vkv.1_Missense_Mutation_p.R189Q|ASB15_uc003vkw.1_Missense_Mutation_p.R189Q NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 189 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 AAGCAAGGCCGAAAAGATATC 0.512000 OREG0018282 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 85 19 0 0 0.00152264 0 0 TMC5 79838 broad.mit.edu 37 16 19492699 19492699 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr16:19492699G>A uc002dgc.4 + 14 3024 c.2275G>A c.(2275-2277)Ggg>Agg p.G759R TMC5_uc010vaq.2_Missense_Mutation_p.G707R|TMC5_uc002dgb.4_Missense_Mutation_p.G759R|TMC5_uc010var.2_Missense_Mutation_p.G759R|TMC5_uc002dgd.1_Missense_Mutation_p.G513R|TMC5_uc002dge.4_Missense_Mutation_p.G513R|TMC5_uc002dgf.4_Missense_Mutation_p.G442R|TMC5_uc002dgg.4_Missense_Mutation_p.G400R NM_001105248 NP_001098718 Q6UXY8 TMC5_HUMAN Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA. 759 integral to membrane p.P758Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 CAGAATCATTGGGATGCAACT 0.438000 28 17 0 0 0.000958276 0 0 GRK7 131890 broad.mit.edu 37 3 141535598 141535598 + Silent SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr3:141535598G>A uc011bnd.2 + 3 1452 c.1368G>A c.(1366-1368)acG>acA p.T456T NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA. 456 AGC-kinase C-terminal. 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 TCTTTAAAACGATCAACTTTC 0.423000 54 17 0 0 0.000422831 0 0 C8orf47 203111 broad.mit.edu 37 8 99101579 99101579 + Missense_Mutation SNP G A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr8:99101579G>A uc003yih.1 + 1 482 c.334G>A c.(334-336)Gaa>Aaa p.E112K C8orf47_uc022ayz.1_Intron NM_173549 NP_775820 Q6P6B1 CH047_HUMAN Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA. 112 kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2) 13 Breast(36;2.31e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) GGGACTGGAGGAATCTGGGCC 0.582000 33 13 0 0 0.00185496 0 0 UNC45B 146862 broad.mit.edu 37 17 33504046 33504046 + Missense_Mutation SNP C T T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:33504046C>T uc002hja.3 + 15 2139 c.2042C>T c.(2041-2043)cCc>cTc p.P681L UNC45B_uc002hjb.3_Missense_Mutation_p.P679L|UNC45B_uc002hjc.3_Missense_Mutation_p.P679L|UNC45B_uc010cto.3_Missense_Mutation_p.P600L NM_173167 NP_775259 Q8IWX7 UN45B_HUMAN Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA. 681 cell differentiation|muscle organ development cytosol binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3) 59 Ovarian(249;0.17) GCCCTGATTCCCCTGGCTTTG 0.567000 31 47 0 0 0.000781405 0 0 MST1P2 11209 broad.mit.edu 37 1 16975890 16975891 + RNA INS - A A TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:16975890_16975891insA uc010och.2 + 10 c.1912_1913insA MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA. GCCTCTCACGGGCTATGAGGTA 0.584 --- 25 --- --- 8 --- FLG 2312 broad.mit.edu 37 1 152282785 152282785 + Frame_Shift_Del DEL C - - TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr1:152282785delC uc001ezu.1 - 2 4613 c.4577delG c.(4576-4578)ggafs p.G1526fs NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1526 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ATCAGACCTTCCCTGGGGTGT 0.572 Ichthyosis --- 98 --- --- 287 --- TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T - - TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:42196333delT uc003ose.2 - 17 3976 c.3413delA c.(3412-3414)aagfs p.K1138fs TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs NM_033502 NP_277037 Q96PN7 TREF1_HUMAN Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA. 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding p.P1138P(1) breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 --- 1169 --- --- 7 --- C6orf223 221416 broad.mit.edu 37 6 43970504 43970509 + In_Frame_Del DEL GCGGCG - - rs72369323 TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr6:43970504_43970509delGCGGCG uc003own.3 + 3 390_395 c.370_375delGCGGCG c.(370-375)gcggcgdel p.AA130del AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR NM_153246 NP_694978 Q8N319 CF223_HUMAN Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA. 130 Ala-rich. central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1) 6 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) GGTAGAGCGCgcggcggcggcggcgg 0.772 --- 7 --- --- 5 --- POM121 9883 broad.mit.edu 37 7 72413723 72413724 + In_Frame_Ins INS - CTC CTC rs67569765 byFrequency TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr7:72413723_72413724insCTC uc003twk.2 + 10 3191_3192 c.3191_3192insCTC c.(3190-3192)ttc>ttCTCc p.1064_1065insS POM121_uc003twj.3_In_Frame_Ins_p.799_800insS|POM121_uc010lam.1_In_Frame_Ins_p.799_800insS NM_172020 NP_742017 Q96HA1 P121A_HUMAN Homo sapiens POM121 membrane glycoprotein (POM121), mRNA. 1064 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACTGCTGTCTTCTTCGGTGCAG 0.663 --- 96 --- --- 13 --- TSKU 25987 broad.mit.edu 37 11 76506673 76506675 + In_Frame_Del DEL CTG - - TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr11:76506673_76506675delCTG uc021qno.1 + 0 13_15 c.13_15delCTG c.(13-15)ctgdel p.L9del TSKU_uc001oxt.3_In_Frame_Del_p.L9del NM_015516 NP_056331 Q8WUA8 TSK_HUMAN Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA. 9 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) GCCGTGGCCCCTGCTGCTGCTGC 0.616 --- 53 --- --- 8 --- KRTAP9-1 728318 broad.mit.edu 37 17 39346425 39346427 + In_Frame_Del DEL GTG - - TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr17:39346425_39346427delGTG uc021txf.1 + 0 287_289 c.287_289delGTG c.(286-291)tgtggc>tgc p.G97del KRTAP4-1_uc010cxm.1_Intron NM_001190460 NP_001177389 A8MXZ3 KRA91_HUMAN Homo sapiens keratin associated protein 9-1 (KRTAP9-1), mRNA. 97 30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI]. keratin filament breast(1)|lung(3) 4 TCCAGCTGCTGTGGCCAAACCAG 0.606 --- 9 --- --- 4 --- LYPD3 27076 broad.mit.edu 37 19 43969653 43969655 + In_Frame_Del DEL AGC - - rs141441894 byFrequency TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chr19:43969653_43969655delAGC uc002owl.1 - 0 177_179 c.69_71delGCT c.(67-72)ctgctt>ctt p.23_24LL>L LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L NM_014400 NP_055215 O95274 LYPD3_HUMAN Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA. 23 anchored to plasma membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2) 11 Prostate(69;0.0153) ACCTCCGCGAAGCAGCAGCAGCA 0.675 --- 145 --- --- 7 --- RAI2 10742 broad.mit.edu 37 X 17818550 17818550 + Frame_Shift_Del DEL A - - TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:17818550delA uc022btm.1 - 0 1581 c.1581delT c.(1579-1581)tttfs p.F527fs RAI2_uc004cyf.3_Frame_Shift_Del_p.F527fs|RAI2_uc004cyg.3_Frame_Shift_Del_p.F527fs|RAI2_uc011miy.2_Frame_Shift_Del_p.F477fs|RAI2_uc022btl.1_Frame_Shift_Del_p.F527fs|RAI2_uc004cyh.4_Frame_Shift_Del_p.F527fs|RAI2_uc010nfa.3_Frame_Shift_Del_p.F527fs NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA. 527 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) ACTTTCTTGGAAAAAAGGTGG 0.333 --- 1085 --- --- 8 --- BRCC3 79184 broad.mit.edu 37 X 154344998 154344998 + Frame_Shift_Del DEL G - - TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx d0ad57ac-586d-456a-a71e-6b4b9e0a885f 8b4304b3-7a86-4439-9afa-33d978b6d336 g.chrX:154344998delG uc004fna.3 + 9 876 c.768delG c.(766-768)ctgfs p.L256fs BRCC3_uc004fnb.3_Frame_Shift_Del_p.L231fs|BRCC3_uc011mzy.2_Frame_Shift_Del_p.L232fs NM_024332 NP_077308 P46736 BRCC3_HUMAN Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA. 256 G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 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) TTACACATCTGGACTCAGTAA 0.398 --- 4 --- --- 2 ---