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 EPHA8 2046 broad.mit.edu 37 1 22927229 22927229 + Missense_Mutation SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:22927229T>C uc001bfx.1 + 13 2589 c.2464T>C c.(2464-2466)Tgg>Cgg p.W822R NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 822 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGCGACGTGTGGAGCTTCGG 0.657 ABCD3 5825 broad.mit.edu 37 1 94965170 94965170 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:94965170G>A uc010oto.2 + 21 1914 c.1812_splice c.e21+1 p.A604_splice ABCD3_uc001dqn.4_Splice_Site_p.A580_splice|ABCD3_uc010otp.2_Splice_Site_p.A507_splice|ABCD3_uc009wdr.3_Splice_Site_p.A470_splice|ABCD3_uc001dqo.4_Splice_Site_p.A268_splice NM_002858 NP_002849 P28288 ABCD3_HUMAN Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA. 580 ABC transporter. peroxisomal long-chain fatty acid import|peroxisome organization cytosol|integral to peroxisomal membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 all_lung(203;0.000434)|Lung NSC(277;0.0019) all cancers(265;0.0261)|Epithelial(280;0.165) AAAGAATGGCGGTAAGTATAC 0.418 FCRL5 83416 broad.mit.edu 37 1 157490328 157490328 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:157490328G>A uc009wsm.3 - 11 2683 c.2525C>T c.(2524-2526)gCg>gTg p.A842V FCRL5_uc001fqu.3_Missense_Mutation_p.A842V NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 842 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACTTCTGTTCGCGGTCAGCCC 0.657 SPTA1 6708 broad.mit.edu 37 1 158615013 158615013 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:158615013G>A uc001fst.1 - 28 4358 c.4159C>T c.(4159-4161)Cgc>Tgc p.R1387C NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1387 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) ATCTTCTTGCGTTTTTCCCAA 0.433 CFH 10877 broad.mit.edu 37 1 196887346 196887346 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:196887346G>T uc001gtp.3 + 9 1684 c.1547G>T c.(1546-1548)tGt>tTt p.C516F CFH_uc021pgt.1_Missense_Mutation_p.C139F|CFH_uc009wyy.3_Missense_Mutation_p.C515F|CFH_uc001gto.3_Missense_Mutation_p.C269F NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 868 Sushi 9. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TCAGATCCATGTATAATAACT 0.264 OR2AK2 391191 broad.mit.edu 37 1 248129572 248129572 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:248129572G>A uc010pzd.2 + 0 939 c.939G>A c.(937-939)acG>acA p.T313T OR2L13_uc001ids.3_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA. 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T313T(2)|p.T313S(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) AGGAAGTGACGGGGGCAGTGA 0.433 OR2M1P 388762 broad.mit.edu 37 1 248285695 248285695 + Silent SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr1:248285695A>G uc001idy.1 + 0 258 c.258A>G c.(256-258)acA>acG p.T86T Homo sapiens olfactory receptor, family 2, subfamily M, member 1 pseudogene (OR2M1P), non-coding RNA. TGGGCTCTACAGATGGAATCA 0.453 ADARB2 105 broad.mit.edu 37 10 1262895 1262895 + Missense_Mutation SNP C C T rs142663256 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:1262895C>T uc009xhq.3 - 6 2004 c.1678G>A c.(1678-1680)Gcc>Acc p.A560T NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 560 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding p.A560T(2) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CCTCACCTGGCGATCTTGTCC 0.677 GDF10 2662 broad.mit.edu 37 10 48429388 48429388 + Silent SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:48429388C>T uc001jfb.3 - 1 926 c.498G>A c.(496-498)ccG>ccA p.P166P GDF10_uc009xnp.3_Silent_p.P165P|GDF10_uc009xnq.2_Silent_p.P166P NM_004962 NP_004953 P55107 BMP3B_HUMAN Homo sapiens growth differentiation factor 10 (GDF10), mRNA. 166 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGCGTGTGGGCGGGCCCAGGG 0.726 MAT1A 4143 broad.mit.edu 37 10 82034333 82034333 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:82034333C>T uc001kbw.3 - 7 1283 c.1028G>A c.(1027-1029)cGa>cAa p.R343Q NM_000429 NP_000420 Q00266 METK1_HUMAN Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA. 343 methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity p.R343Q(2) endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(32;0.229) L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) CAGCAGCTCTCGCTCTGTCTT 0.557 PTEN 5728 broad.mit.edu 37 10 89720670 89720671 + Missense_Mutation DNP GG GG CT TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:89720670_89720671GG>CT uc001kfb.3 + 7 1853_1854 c.821_822GG>CT c.(820-822)tgg>tCT p.W274S PTEN_uc021pvw.1_Non-coding_Transcript NM_000314 NP_000305 P60484 PTEN_HUMAN Homo sapiens phosphatase and tensin homolog (PTEN), mRNA. 274 C2 tensin-type. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.W274*(14)|p.R55fs*1(5)|p.W274G(3)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F273S(1)|p.G165_*404del(1)|p.W274R(1)|p.G165_K342del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TTTCACTTTTGGGTAAATACAT 0.267 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) AFAP1L2 84632 broad.mit.edu 37 10 116062141 116062141 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr10:116062141C>T uc001lbn.3 - 11 1688 c.1387G>A c.(1387-1389)Gat>Aat p.D463N AFAP1L2_uc001lbo.3_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.2_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.3_5'Flank|AFAP1L2_uc010qsd.2_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank NM_001001936 NP_001001936 Q8N4X5 AF1L2_HUMAN Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA. 463 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) GAGACCCTATCGGCATCCACA 0.527 C11orf35 256329 broad.mit.edu 37 11 556891 556891 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:556891C>T uc001lpx.3 - 7 983 c.920G>A c.(919-921)cGc>cAc p.R307H AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA. 307 NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1) 8 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGAGGAAGCGCGGTGGTCCCG 0.692 OR4A15 81328 broad.mit.edu 37 11 55135749 55135749 + Silent SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55135749T>C uc010rif.2 + 0 390 c.390T>C c.(388-390)ttT>ttC p.F130F NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 130 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CTCAACTTTTTATGGATCATT 0.403 OR5D16 390144 broad.mit.edu 37 11 55606949 55606950 + Frame_Shift_Ins INS - - CACCT TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55606949_55606950insCACCT uc010rio.2 + 0 722_723 c.722_723insCACCT c.(721-723)tccfs p.S241fs NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA. 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F240L(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_epithelial(135;0.208) AAAGTCTTCTCCACCTGTGCCT 0.490 OR7E5P 219445 broad.mit.edu 37 11 55747391 55747391 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55747391G>A uc010riu.1 - 3 621 c.66C>T c.(64-66)ctC>ctT p.L22L Homo sapiens olfactory receptor, family 7, subfamily E, member 5 pseudogene (OR7E5P), non-coding RNA. breast(1)|kidney(1)|lung(5) 7 TGGGGGTGTCGAGGTGGGAGT 0.572 OR8H2 390151 broad.mit.edu 37 11 55873210 55873210 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:55873210C>T uc010riy.2 + 0 692 c.692C>T c.(691-693)aCt>aTt p.T231I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ATTAATTCCACTTCAGGAAAG 0.373 HNSCC(53;0.14) ZP1 22917 broad.mit.edu 37 11 60637220 60637220 + Missense_Mutation SNP C C G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:60637220C>G uc001nqd.3 + 2 549 c.529C>G c.(529-531)Cat>Gat p.H177D ZP1_uc001nqe.3_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA. 177 single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 AGGCTCTGGCCATGCCTTTCC 0.627 FTH1 2495 broad.mit.edu 37 11 61732280 61732280 + Silent SNP G G C rs11554851 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:61732280G>C uc001nsu.3 - 3 706 c.471C>G c.(469-471)cgC>cgG p.R157R NM_002032 NP_002023 P02794 FRIH_HUMAN Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA. 157 Ferritin-like diiron. cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) CTCCCATCTTGCGCAAGTTGG 0.493 PGR 5241 broad.mit.edu 37 11 100933263 100933263 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr11:100933263G>T uc001pgh.2 - 3 2870 c.2127C>A c.(2125-2127)gaC>gaA p.D709E PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 709 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AACTGGAGGTGTCAGGTTTTG 0.408 CDCA3 83461 broad.mit.edu 37 12 6959664 6959664 + Missense_Mutation SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:6959664T>C uc001qrg.2 - 2 345 c.217A>G c.(217-219)Att>Gtt p.I73V CDCA3_uc001qre.2_Missense_Mutation_p.I73V|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank NM_031299 NP_112589 Q99618 CDCA3_HUMAN Homo sapiens cell division cycle associated 3 (CDCA3), mRNA. 73 cell division|mitosis cytosol breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1) 8 GTCCGTGCAATACCAAGAGTA 0.547 ABCC9 10060 broad.mit.edu 37 12 21960380 21960380 + Missense_Mutation SNP C C G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21960380C>G uc001rfh.3 - 35 4369 c.4349G>C c.(4348-4350)aGc>aCc p.S1450T ABCC9_uc001rfi.1_Missense_Mutation_p.S1450T NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1450 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CTGTCCAACGCTAAAATTCTC 0.433 ABCC9 10060 broad.mit.edu 37 12 21968784 21968784 + Missense_Mutation SNP G G C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21968784G>C uc001rfh.3 - 31 3956 c.3936C>G c.(3934-3936)atC>atG p.I1312M ABCC9_uc001rfi.1_Missense_Mutation_p.I1312M NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1312 ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CATGTATCTTGATCTCCCCTT 0.403 ABCC9 10060 broad.mit.edu 37 12 21970190 21970190 + Nonsense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21970190G>A uc001rfh.3 - 30 3843 c.3823C>T c.(3823-3825)Cag>Tag p.Q1275* ABCC9_uc001rfi.1_Nonsense_Mutation_p.Q1275* NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1275 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCACCCATCTGGACCTCCAGG 0.373 ABCC9 10060 broad.mit.edu 37 12 21981913 21981913 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:21981913G>T uc001rfh.3 - 28 3668 c.3648C>A c.(3646-3648)aaC>aaA p.N1216K ABCC9_uc001rfi.1_Missense_Mutation_p.N1216K NM_020297 NP_064693 O60706 ABCC9_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA. 1216 ABC transmembrane type-1 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCAGCCATCTGTTGGCAGCTG 0.423 OR6C6 283365 broad.mit.edu 37 12 55688288 55688288 + Missense_Mutation SNP C C G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:55688288C>G uc010sph.2 - 0 729 c.729G>C c.(727-729)atG>atC p.M243I NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA. 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AGACAACAATCATGTGGGAAG 0.368 NUP107 57122 broad.mit.edu 37 12 69115670 69115670 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr12:69115670G>A uc001suf.3 + 15 1476 c.1361G>A c.(1360-1362)cGg>cAg p.R454Q NUP107_uc001sug.3_Missense_Mutation_p.R301Q|NUP107_uc010stj.2_Missense_Mutation_p.R425Q NM_020401 NP_065134 P57740 NU107_HUMAN Homo sapiens nucleoporin 107kDa (NUP107), mRNA. 454 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GCCTACTTCCGGGTGATGGTG 0.448 FLT3 2322 broad.mit.edu 37 13 28636174 28636174 + Silent SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr13:28636174C>T uc001urw.3 - 2 280 c.198G>A c.(196-198)gcG>gcA p.A66A FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.A66A NM_004119 NP_004110 P36888 FLT3_HUMAN Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA. 66 positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity p.A66A(2) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 12390 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) GGGGTCTCAACGCACACCCGA 0.537 """Mis, O""" """AML, ALL""" RNASE11 122651 broad.mit.edu 37 14 21052270 21052270 + Missense_Mutation SNP G G A rs144501463 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:21052270G>A uc010ahw.3 - 2 700 c.364C>T c.(364-366)Cgc>Tgc p.R122C RNASE11_uc010ahv.3_Missense_Mutation_p.R122C|RNASE11_uc010ahx.3_Missense_Mutation_p.R122C|RNASE11_uc001vxs.3_Missense_Mutation_p.R122C|RNASE11_uc021rnu.1_Missense_Mutation_p.R122C NM_145250 NP_660293 Q8TAA1 RNS11_HUMAN Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA. 122 extracellular region nucleic acid binding|pancreatic ribonuclease activity p.R122S(2)|p.R122R(1) endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 21 all_cancers(95;0.00238) all_lung(585;0.235) Epithelial(56;1.85e-06)|all cancers(55;1.46e-05) GBM - Glioblastoma multiforme(265;0.0139) GTGGAGCTGCGGATGAAGTTA 0.488 GALNTL1 57452 broad.mit.edu 37 14 69795188 69795188 + Missense_Mutation SNP G G A rs61748871 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:69795188G>A uc001xlb.2 + 5 917 c.590G>A c.(589-591)cGt>cAt p.R197H GALNTL1_uc001xla.2_Missense_Mutation_p.R197H|GALNTL1_uc010aqu.2_Missense_Mutation_p.R197H NM_020692 NP_065743 Q8N428 GLTL1_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA. 197 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2) 24 all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656) TCCCGAGTGCGTGGGGCGGAC 0.632 FBLN5 10516 broad.mit.edu 37 14 92343924 92343924 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:92343924G>A uc010aue.3 - 10 1688 c.1215C>T c.(1213-1215)gaC>gaT p.D405D FBLN5_uc010aud.3_Silent_p.D369D|FBLN5_uc001xzx.4_Silent_p.D364D|FBLN5_uc001xzw.3_5'Flank NM_006329 NP_006320 Q9UBX5 FBLN5_HUMAN Homo sapiens fibulin 5 (FBLN5), mRNA. 364 cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals extracellular space|proteinaceous extracellular matrix|soluble fraction calcium ion binding|integrin binding|protein C-terminus binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 28 all_cancers(154;0.0722) TTTGGAAGATGTCAGCGGGAA 0.537 PAPOLA 10914 broad.mit.edu 37 14 96991694 96991694 + Silent SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:96991694A>G uc001yfq.3 + 3 514 c.297A>G c.(295-297)acA>acG p.T99T PAPOLA_uc001yfp.3_Silent_p.T99T|PAPOLA_uc001yfo.3_Silent_p.T99T|PAPOLA_uc001yfr.3_Silent_p.T99T|PAPOLA_uc010twv.2_Silent_p.T99T|PAPOLA_uc010avp.3_5'UTR NM_032632 NP_116021 P51003 PAPOA_HUMAN Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA. 99 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AAATTTTTACATTTGGATCTT 0.323 KIF26A 26153 broad.mit.edu 37 14 104642036 104642036 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr14:104642036G>T uc001yos.4 + 11 2911 c.2911G>T c.(2911-2913)Ggg>Tgg p.G971W NM_015656 NP_056471 Q9ULI4 KI26A_HUMAN Homo sapiens kinesin family member 26A (KIF26A), mRNA. 971 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GCCTGGGGGAGGGGGCACTGA 0.701 TUBGCP5 114791 broad.mit.edu 37 15 22868917 22868917 + Missense_Mutation SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:22868917A>G uc001yuq.2 + 19 2919 c.2789A>G c.(2788-2790)cAc>cGc p.H930R TUBGCP5_uc001yur.4_Missense_Mutation_p.H930R NM_001102610 NP_001096080 Q96RT8 GCP5_HUMAN Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA. 930 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) ATTAAAATTCACTATAGGTAT 0.453 C15orf2 23742 broad.mit.edu 37 15 24922713 24922713 + Missense_Mutation SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:24922713T>C uc001ywo.3 + 0 2173 c.1699T>C c.(1699-1701)Tca>Cca p.S567P NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 567 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) CCACCTAACCTCACAGACTGC 0.488 RPAP1 26015 broad.mit.edu 37 15 41810311 41810311 + Missense_Mutation SNP G G A rs141969064 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:41810311G>A uc001zod.3 - 22 3989 c.3865C>T c.(3865-3867)Cgg>Tgg p.R1289W NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 1289 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) ACCAGGGTCCGGAAGTAGAGC 0.582 DUOX2 50506 broad.mit.edu 37 15 45387648 45387648 + Missense_Mutation SNP A A C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr15:45387648A>C uc001zun.3 - 30 4429 c.4226T>G c.(4225-4227)aTg>aGg p.M1409R DUOX2_uc010bea.3_Missense_Mutation_p.M1409R NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1409 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CTTACACAGCATTTGGCTGCC 0.532 ZNF263 10127 broad.mit.edu 37 16 3339694 3339694 + Missense_Mutation SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr16:3339694C>A uc002cuq.3 + 5 1520 c.1188C>A c.(1186-1188)caC>caA p.H396Q ZNF263_uc010uww.2_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q NM_005741 NP_005732 O14978 ZN263_HUMAN Homo sapiens zinc finger protein 263 (ZNF263), mRNA. 396 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3) 20 TAATTAGGCACCAGAGAATAC 0.478 ATF7IP2 80063 broad.mit.edu 37 16 10525310 10525310 + Missense_Mutation SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr16:10525310A>G uc002czw.3 + 1 992 c.833A>G c.(832-834)aAc>aGc p.N278S ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.N278S|ATF7IP2_uc002czv.3_Missense_Mutation_p.N278S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 278 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 ACTAATAACAACAGTAAGTAT 0.313 AQP8 343 broad.mit.edu 37 16 25232824 25232824 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr16:25232824G>A uc002doc.3 + 2 389 c.307G>A c.(307-309)Gga>Aga p.G103R NM_001169 NP_001160 O94778 AQP8_HUMAN Homo sapiens aquaporin 8 (AQP8), mRNA. 103 cellular response to cAMP integral to plasma membrane water channel activity NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 16 GBM - Glioblastoma multiforme(48;0.044) CATGCTGATCGGAGGCCTCAA 0.627 TP53 7157 broad.mit.edu 37 17 7577114 7577114 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:7577114C>T uc002gim.2 - 7 1018 c.824G>A c.(823-825)tGt>tAt p.C275Y TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 275 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGACAGGCACAAACACGCAC 0.552 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) TP53 7157 broad.mit.edu 37 17 7577610 7577610 + Splice_Site SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:7577610T>C uc002gim.2 - 7 867 c.673_splice c.e7-1 p.V225_splice TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 225 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGAGCCAACCTAGGAGATAAC 0.522 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) CCDC42 146849 broad.mit.edu 37 17 8644917 8644917 + Nonsense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:8644917G>A uc002gln.3 - 3 594 c.367C>T c.(367-369)Cag>Tag p.Q123* CCDC42_uc002glo.3_Nonsense_Mutation_p.Q123* NM_144681 NP_653282 Q96M95 CCD42_HUMAN Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA. 123 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 GTCAGCTCCTGCATGTGCTGG 0.602 DNAH9 1770 broad.mit.edu 37 17 11568211 11568211 + Missense_Mutation SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:11568211C>A uc002gne.3 + 14 2725 c.2657C>A c.(2656-2658)tCt>tAt p.S886Y DNAH9_uc010coo.3_Missense_Mutation_p.S180Y NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 886 Stem (By similarity). 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) TATGTTAACTCTATTGACAAT 0.383 DHX58 79132 broad.mit.edu 37 17 40263362 40263362 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:40263362G>T uc002hyw.3 - 3 545 c.322C>A c.(322-324)Cag>Aag p.Q108K DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K NM_024119 NP_077024 Q96C10 DHX58_HUMAN Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA. 108 Helicase ATP-binding. innate immune response cytoplasm ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) AGTGCCATCTGCAGAAGCTCT 0.622 HEATR6 63897 broad.mit.edu 37 17 58137429 58137429 + Missense_Mutation SNP G G C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:58137429G>C uc002iyk.1 - 9 1462 c.1445C>G c.(1444-1446)tCt>tGt p.S482C HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA. 482 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CAAGATGGCAGATAAAACTTG 0.433 KCNJ16 3773 broad.mit.edu 37 17 68128948 68128948 + Missense_Mutation SNP A A T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr17:68128948A>T uc002jiq.3 + 2 956 c.816A>T c.(814-816)ttA>ttT p.L272F KCNJ16_uc002jin.3_Missense_Mutation_p.L240F|KCNJ16_uc002jio.3_Missense_Mutation_p.L240F|KCNJ16_uc002jip.3_Missense_Mutation_p.L240F|KCNJ16_uc021uch.1_Missense_Mutation_p.L240F NM_170742 NP_733938 Q9NPI9 IRK16_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA. 240 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) ACCTCAAATTAGTCAACGACC 0.483 SMCHD1 23347 broad.mit.edu 37 18 2688412 2688412 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr18:2688412G>A uc002klm.4 + 5 848 c.659G>A c.(658-660)cGt>cAt p.R220H NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA. 220 chromosome organization ATP binding NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1) 45 GGATATGTTCGTCCAGTACCA 0.368 DSG4 147409 broad.mit.edu 37 18 28993484 28993484 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr18:28993484G>A uc002kwr.2 + 14 3241 c.3106G>A c.(3106-3108)Gtt>Att p.V1036I DSG4_uc002kwq.2_Missense_Mutation_p.V1017I NM_001134453 NP_001127925 Q86SJ6 DSG4_HUMAN Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA. 1017 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) AGGCCAAACCGTTGGCTCCAC 0.453 CDH19 28513 broad.mit.edu 37 18 64218401 64218401 + Silent SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr18:64218401C>T uc002lkc.1 - 4 843 c.705G>A c.(703-705)gcG>gcA p.A235A CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.3_Silent_p.A235A NM_021153 NP_066976 Q9H159 CAD19_HUMAN Homo sapiens cadherin 19, type 2 (CDH19), mRNA. 235 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) TTCCAGACAACGCTCCTGGCT 0.328 FBN3 84467 broad.mit.edu 37 19 8191373 8191373 + Missense_Mutation SNP G G C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr19:8191373G>C uc002mjf.3 - 18 2550 c.2533C>G c.(2533-2535)Ccc>Gcc p.P845A NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 845 TB 4. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 CGTTCGCAGGGGCTCCCCCAG 0.667 TNPO2 30000 broad.mit.edu 37 19 12825902 12825902 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr19:12825902G>A uc002mup.3 - 6 1468 c.1006C>T c.(1006-1008)Cgg>Tgg p.R336W TNPO2_uc002muq.3_Missense_Mutation_p.R244W|TNPO2_uc002muo.3_Missense_Mutation_p.R244W|TNPO2_uc002mur.3_Missense_Mutation_p.R244W NM_013433 NP_038461 O14787 TNPO2_HUMAN Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA. 244 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity p.R336C(1)|p.R336H(1) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTGTCAATCCGCACTTCCAGA 0.632 ZNF17 7565 broad.mit.edu 37 19 57931383 57931383 + Missense_Mutation SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr19:57931383A>G uc002qop.1 + 3 795 c.529A>G c.(529-531)Agg>Ggg p.R177G ZNF17_uc021vck.1_Missense_Mutation_p.R168G|ZNF17_uc002qoo.1_Missense_Mutation_p.R175G NM_006959 NP_008890 P17021 ZNF17_HUMAN Homo sapiens zinc finger protein 17 (ZNF17), mRNA. 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) GAAGCCACACAGGGACACTCA 0.488 ALLC 55821 broad.mit.edu 37 2 3727515 3727515 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:3727515G>A uc010ewt.3 + 4 390 c.229G>A c.(229-231)Gtg>Atg p.V77M NM_018436 NP_060906 Q8N6M5 ALLC_HUMAN Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA. 96 allantoicase activity p.D76N(1) breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) GGGCTTCGACGTGGACGTTTC 0.547 HNSCC(21;0.051) RAD51AP2 729475 broad.mit.edu 37 2 17696534 17696534 + Missense_Mutation SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:17696534C>A uc002rcl.1 - 0 3173 c.3149G>T c.(3148-3150)tGg>tTg p.W1050L RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA. 1050 endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TACAGTTTTCCATTTAAATAA 0.368 MSH6 2956 broad.mit.edu 37 2 48026087 48026087 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:48026087C>T uc002rwd.4 + 3 1117 c.965C>T c.(964-966)gCc>gTc p.A322V MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.3_Missense_Mutation_p.A20V|MSH6_uc010yoj.2_Missense_Mutation_p.A20V NM_000179 NP_000170 P52701 MSH6_HUMAN Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA. 322 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACGCCCTCAGCCACCAAACAA 0.473 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome TSGA10 80705 broad.mit.edu 37 2 99634812 99634812 + Silent SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:99634812C>T uc002szg.4 - 18 2551 c.1923_splice c.e18-1 p.R641_splice TSGA10_uc002szh.4_Splice_Site_p.R641_splice|TSGA10_uc002szi.4_Splice_Site_p.R641_splice|TSGA10_uc010fin.1_Splice_Site_p.R641_splice NM_182911 NP_878915 Q9BZW7 TSG10_HUMAN Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA. 641 Interaction with HIF1A (By similarity). spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 CGGCCCTCTCCCTAAAGCAAA 0.323 IL1R1 3554 broad.mit.edu 37 2 102789175 102789175 + Missense_Mutation SNP A A T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:102789175A>T uc002tbq.3 + 8 1186 c.868A>T c.(868-870)Agt>Tgt p.S290C IL1R1_uc010fix.3_Missense_Mutation_p.S290C|IL1R1_uc002tbr.3_Missense_Mutation_p.S290C NM_000877 NP_000868 P14778 IL1R1_HUMAN Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA. 290 Ig-like C2-type 3. innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3) 19 Anakinra(DB00026) CAAAAGAAGGAGTACCCTCAT 0.348 SLC9A4 389015 broad.mit.edu 37 2 103141556 103141556 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:103141556G>A uc002tbz.4 + 9 2349 c.1892G>A c.(1891-1893)cGc>cAc p.R631H NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 631 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CTGATCCGCCGCCAGAACACC 0.507 XIRP2 129446 broad.mit.edu 37 2 168103543 168103543 + Nonsense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:168103543C>T uc002udx.3 + 8 5730 c.5641C>T c.(5641-5643)Cga>Tga p.R1881* XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 1706 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 ATCAAGCCATCGATGGAAAGA 0.378 TTN 7273 broad.mit.edu 37 2 179431526 179431526 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr2:179431526G>A uc021vsy.1 - 274 71854 c.71629C>T c.(71629-71631)Cgt>Tgt p.R23877C MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17572C|TTN_uc021vta.1_Missense_Mutation_p.R17505C|TTN_uc021vtb.1_Missense_Mutation_p.R17380C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 24804 Ig-like 120. 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) ACTCTTAGACGCAAATCTGTA 0.408 ANGPT4 51378 broad.mit.edu 37 20 870858 870858 + Nonsense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr20:870858G>A uc002wei.3 - 1 566 c.463C>T c.(463-465)Cag>Tag p.Q155* ANGPT4_uc010zpn.2_Nonsense_Mutation_p.Q149* NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN Homo sapiens angiopoietin 4 (ANGPT4), mRNA. 155 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TCTGTTACCTGAGCCTCCATG 0.607 SIRPA 140885 broad.mit.edu 37 20 1915375 1915375 + Missense_Mutation SNP A A T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr20:1915375A>T uc002wfq.3 + 7 1601 c.1241A>T c.(1240-1242)gAg>gTg p.E414V SIRPA_uc010zps.2_Missense_Mutation_p.E394V|SIRPA_uc002wfr.3_Missense_Mutation_p.E414V|SIRPA_uc002wfs.3_Missense_Mutation_p.E414V|SIRPA_uc002wft.3_Missense_Mutation_p.E414V NM_001040022 NP_542970 P78324 SHPS1_HUMAN Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA. 414 blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.E414*(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) CATGAGCCCGAGAAGAATGCC 0.448 PTPRT 11122 broad.mit.edu 37 20 41385120 41385120 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr20:41385120C>T uc002xkg.3 - 5 1025 c.841G>A c.(841-843)Gcg>Acg p.A281T PTPRT_uc010ggj.3_Missense_Mutation_p.A281T NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 281 Ig-like C2-type. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.A281V(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) ATCAGCTCCGCGTAGTTGGAC 0.567 TRIM71 131405 broad.mit.edu 37 3 32932739 32932739 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:32932739G>A uc003cff.3 + 3 2106 c.2043G>A c.(2041-2043)acG>acA p.T681T NM_001039111 NP_001034200 Q2Q1W2 LIN41_HUMAN Homo sapiens tripartite motif containing 71 (TRIM71), mRNA. 681 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGATCTTCACGTTCGAGGGCC 0.582 AMIGO3 386724 broad.mit.edu 37 3 49756785 49756785 + Silent SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:49756785A>G uc003cxj.3 - 0 454 c.114T>C c.(112-114)tgT>tgC p.C38C RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA. 38 LRRNT. heterophilic cell-cell adhesion integral to membrane endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGCAGATACATTTGTAGG 0.647 OREG0015572 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HTR1F 3355 broad.mit.edu 37 3 88040099 88040099 + Missense_Mutation SNP T T A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:88040099T>A uc003dqr.2 + 1 358 c.200T>A c.(199-201)gTc>gAc p.V67D HTR1F_uc021xbd.1_Missense_Mutation_p.V67D NM_000866 NP_000857 P30939 5HT1F_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA. 67 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) TCCCTTGCAGTCACAGATTTT 0.463 FAM55C 91775 broad.mit.edu 37 3 101520152 101520152 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:101520152G>A uc003dvn.3 + 4 804 c.167G>A c.(166-168)gGa>gAa p.G56E FAM55C_uc010hpn.3_Missense_Mutation_p.G56E NM_145037 NP_659474 Q969Y0 FA55C_HUMAN Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA. 56 extracellular region breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 32 CAGGTGACAGGAATTAGCCGA 0.522 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr3:178936091G>A uc003fjk.3 + 9 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) GABRB1 2560 broad.mit.edu 37 4 47322182 47322182 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:47322182G>T uc003gxh.3 + 4 874 c.500G>T c.(499-501)aGa>aTa p.R167I GABRB1_uc011bze.2_Missense_Mutation_p.R97I NM_000812 NP_000803 P18505 GBRB1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. 167 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GATCTTCGAAGATATCCATTG 0.418 HPSE 10855 broad.mit.edu 37 4 84216623 84216623 + Missense_Mutation SNP C C G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:84216623C>G uc003hoj.4 - 11 1605 c.1506G>C c.(1504-1506)atG>atC p.M502I HPSE_uc003hoi.3_Missense_Mutation_p.M444I|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.M245I|HPSE_uc003hok.4_Missense_Mutation_p.M502I|HPSE_uc011cct.2_Missense_Mutation_p.M428I NM_001098540 NP_006656 Q9Y251 HPSE_HUMAN Homo sapiens heparanase (HPSE), transcript variant 2, mRNA. 502 carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) GATCATCCACCATCTTTAGAG 0.443 LRIT3 345193 broad.mit.edu 37 4 110791269 110791269 + Missense_Mutation SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:110791269C>A uc003hzx.4 + 2 1422 c.1229C>A c.(1228-1230)gCa>gAa p.A410E LRIT3_uc003hzw.4_Missense_Mutation_p.A272E NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA. 410 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TTAAAGGTGGCAAAGAATGGA 0.458 MYOZ2 51778 broad.mit.edu 37 4 120072132 120072132 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:120072132G>A uc003icp.4 + 2 395 c.182G>A c.(181-183)cGt>cAt p.R61H NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN Homo sapiens myozenin 2 (MYOZ2), mRNA. 61 protein phosphatase 2B binding p.R61C(1) endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 TTTAAGATGCGTCAAAGAAGA 0.398 FSTL5 56884 broad.mit.edu 37 4 162577565 162577565 + Missense_Mutation SNP C C G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr4:162577565C>G uc003iqh.3 - 6 1245 c.809G>C c.(808-810)tGt>tCt p.C270S FSTL5_uc003iqi.3_Missense_Mutation_p.C269S|FSTL5_uc010iqv.3_Missense_Mutation_p.C269S NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 270 Ig-like 1. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) TTGAATGGCACAGCTCAGAAC 0.393 OSMR 9180 broad.mit.edu 37 5 38904563 38904563 + Missense_Mutation SNP T T A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:38904563T>A uc003jln.2 + 8 1645 c.1243T>A c.(1243-1245)Tgg>Agg p.W415R NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 415 Fibronectin type-III 1. cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) CTTCTGGAAATGGAGTGAATG 0.488 COX7C 1350 broad.mit.edu 37 5 85915176 85915176 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:85915176C>T uc003kir.3 + 1 171 c.82C>T c.(82-84)Cca>Tca p.P28S MIR3607_uc021yba.1_5'Flank NM_001867 NP_001858 P15954 COX7C_HUMAN Homo sapiens cytochrome c oxidase subunit VIIc (COX7C), nuclear gene encoding mitochondrial protein, mRNA. 28 respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity endometrium(1)|lung(1) 2 all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29) ACAGAATTTGCCATTTTCAGT 0.338 PCDHAC2 56137 broad.mit.edu 37 5 140255258 140255258 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:140255258G>A uc003lic.2 + 0 328 c.201G>A c.(199-201)gcG>gcA p.A67A 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_Silent_p.A67A NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 85 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCGGGTGGCGTCCAAAAGAC 0.632 SH3RF2 153769 broad.mit.edu 37 5 145393533 145393533 + Missense_Mutation SNP T T G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr5:145393533T>G uc003lnt.3 + 4 1206 c.968T>G c.(967-969)aTc>aGc p.I323S SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S NM_152550 NP_689763 Q8TEC5 SH3R2_HUMAN Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA. 323 ligase activity|protein phosphatase 1 binding|zinc ion binding p.E322K(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGGTAGAGATCAGCACCCCA 0.567 ITPR3 3710 broad.mit.edu 37 6 33644615 33644615 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:33644615G>A uc021ywr.1 + 25 3577 c.3353G>A c.(3352-3354)cGg>cAg p.R1118Q NM_002224 NP_002215 Q14573 ITPR3_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA. 1118 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GACCGGCTGCGGACCATGGTG 0.597 KCNK16 83795 broad.mit.edu 37 6 39282798 39282814 + Frame_Shift_Del DEL TGGATATGGGGAAGTCC TGGATATGGGGAAGTCC - rs147542213 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:39282798_39282814delTGGATATGGGGAAGTCC uc003oor.4 - 4 KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Frame_Shift_Del_p.Q298fs|KCNK16_uc010jwy.3_Frame_Shift_Del_p.Q251fs NM_001135105 NP_001128577 Q96T55 KCNKG_HUMAN Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA. integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA 0.590 CUL9 23113 broad.mit.edu 37 6 43164484 43164484 + Missense_Mutation SNP C C A rs142672693 byFrequency TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:43164484C>A uc003ouk.3 + 10 2762 c.2687C>A c.(2686-2688)aCg>aAg p.T896K CUL9_uc003oul.3_Missense_Mutation_p.T896K|CUL9_uc010jyk.3_Missense_Mutation_p.T48K NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN Homo sapiens cullin 9 (CUL9), mRNA. 896 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CTGAGAGACACGTTGTTTAGG 0.517 ABCC10 89845 broad.mit.edu 37 6 43413522 43413522 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:43413522G>A uc003ouy.1 + 14 3431 c.3216G>A c.(3214-3216)ccG>ccA p.P1072P ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P NM_001198934 NP_001185863 Q5T3U5 MRP7_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA. 1072 ABC transmembrane type-1 2. 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) TCCTGCTGCCGCCTTTGAGCA 0.662 GCM1 8521 broad.mit.edu 37 6 52993580 52993580 + Silent SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:52993580T>C uc003pbp.3 - 5 944 c.735A>G c.(733-735)ggA>ggG p.G245G NM_003643 NP_003634 Q9NP62 GCM1_HUMAN Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA. 245 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) CTGTGATTCCTCCCAGACCAT 0.453 LGSN 51557 broad.mit.edu 37 6 63990360 63990360 + Nonsense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:63990360G>A uc003peh.3 - 3 1130 c.1096C>T c.(1096-1098)Cga>Tga p.R366* LGSN_uc003pei.3_3'UTR NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA. 366 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TAACGCTTTCGGCAGCTAACA 0.478 PHF3 23469 broad.mit.edu 37 6 64422167 64422167 + Silent SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:64422167A>G uc003pep.1 + 14 4708 c.4683A>G c.(4681-4683)agA>agG p.R1561R PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R NM_015153 NP_055968 Q92576 PHF3_HUMAN Homo sapiens PHD finger protein 3 (PHF3), mRNA. 1561 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TTAGTCTCAGAGGTAAGCCAC 0.353 SEC63 11231 broad.mit.edu 37 6 108250659 108250659 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:108250659G>A uc003psc.4 - 1 453 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA. 62 protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding p.R62W(2) endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTAATAACCGTAAACGATAC 0.299 SLC22A2 6582 broad.mit.edu 37 6 160663362 160663362 + Missense_Mutation SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr6:160663362C>A uc003qtf.3 - 7 1526 c.1352G>T c.(1351-1353)tGc>tTc p.C451F NM_003058 NP_003049 O15244 S22A2_HUMAN Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA. 451 Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity). body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion integral to plasma membrane|membrane fraction neurotransmitter transporter activity|organic cation transmembrane transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1) 27 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06) ATTGACCAGGCAGACTATCTC 0.438 DGKB 1607 broad.mit.edu 37 7 14733777 14733777 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:14733777C>T uc003ssz.3 - 7 821 c.634G>A c.(634-636)Gga>Aga p.G212R DGKB_uc011jxt.2_Missense_Mutation_p.G205R|DGKB_uc003sta.3_Missense_Mutation_p.G212R|DGKB_uc011jxu.2_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 212 EF-hand 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GACACGGTTCCATCATGATCA 0.418 TRA2A 29896 broad.mit.edu 37 7 23552560 23552560 + Missense_Mutation SNP G G C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:23552560G>C uc003swi.3 - 3 691 c.478C>G c.(478-480)Cga>Gga p.R160G TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_Missense_Mutation_p.R59G|TRA2A_uc011jzd.2_Missense_Mutation_p.R59G|TRA2A_uc010kuo.1_Non-coding_Transcript NM_013293 NP_037425 Q13595 TRA2A_HUMAN Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA. 160 RRM. nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 GCAAATCCTCGAGATCGCCCA 0.378 GHRHR 2692 broad.mit.edu 37 7 31009513 31009513 + Silent SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:31009513C>A uc003tbx.3 + 3 348 c.300C>A c.(298-300)ggC>ggA p.G100G GHRHR_uc003tby.3_Silent_p.G36G|GHRHR_uc003tbz.3_5'UTR NM_000823 NP_000814 Q02643 GHRHR_HUMAN Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA. 100 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CTATCACTGGCTGGTCTGAGC 0.602 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C C A rs149840192 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:55221822C>A uc003tqk.3 + 6 1112 c.866C>A c.(865-867)gCc>gAc p.A289D EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA. 289 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82474620 82474620 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:82474620G>A uc003uhx.2 - 12 14302 c.14013C>T c.(14011-14013)ccC>ccT p.P4671P PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4559 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGCTCACTGAGGGGGACCCTG 0.488 STEAP4 79689 broad.mit.edu 37 7 87913202 87913202 + Missense_Mutation SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:87913202G>A uc022agz.1 - 2 606 c.383C>T c.(382-384)gCc>gTc p.A128V STEAP4_uc003ujs.3_Missense_Mutation_p.A128V|STEAP4_uc010lek.3_Missense_Mutation_p.A128V NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 128 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) TACCACGTGGGCTCCTGGCAC 0.428 ZNF655 79027 broad.mit.edu 37 7 99170930 99170930 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:99170930G>T uc010lga.3 + 3 1697 c.1304G>T c.(1303-1305)aGa>aTa p.R435I ZNF655_uc003urh.3_Missense_Mutation_p.R400I|ZNF655_uc010lgc.3_Missense_Mutation_p.R435I|ZNF655_uc003urj.3_Missense_Mutation_p.R400I|ZNF655_uc003urk.3_Missense_Mutation_p.R237I|ZNF655_uc010lgd.3_Missense_Mutation_p.R237I NM_001083956 NP_001078837 Q8N720 ZN655_HUMAN Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA. 400 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding p.R435T(1)|p.R400T(1) NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CAGCATCAAAGAATTCACACA 0.353 RELN 5649 broad.mit.edu 37 7 103368622 103368622 + Missense_Mutation SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:103368622T>C uc022ajr.1 - 6 849 c.689A>G c.(688-690)cAg>cGg p.Q230R RELN_uc022ajq.1_Missense_Mutation_p.Q230R|RELN_uc010liz.3_Missense_Mutation_p.Q230R NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 230 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGCGCCACACTGTTCTCCAGT 0.458 TAS2R16 50833 broad.mit.edu 37 7 122635067 122635067 + Missense_Mutation SNP G G T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:122635067G>T uc003vkl.1 - 0 688 c.622C>A c.(622-624)Caa>Aaa p.Q208K NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA. 208 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 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 CTATGATGTTGTATCTGCTTG 0.463 TRPV6 55503 broad.mit.edu 37 7 142575732 142575732 + Missense_Mutation SNP T T C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr7:142575732T>C uc003wbx.2 - 1 405 c.176A>G c.(175-177)cAg>cGg p.Q59R TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA. 59 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) GTTCAGGGCCTGGACATCATT 0.493 DCTN6 10671 broad.mit.edu 37 8 30040689 30040689 + Nonstop_Mutation SNP A A C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:30040689A>C uc003xhy.3 + 6 660 c.573A>C c.(571-573)taA>taC p.*191Y MIR548O2_uc022atm.1_Intron NM_006571 NP_006562 O00399 DCTN6_HUMAN Homo sapiens dynactin 6 (DCTN6), mRNA. 0 centrosome transferase activity endometrium(1)|lung(1)|ovary(1)|prostate(1) 4 KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119) TAAAGAACTAAGAACAGTGTA 0.378 PLEKHA2 59339 broad.mit.edu 37 8 38826181 38826181 + Silent SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:38826181C>T uc003xmi.4 + 10 1143 c.909C>T c.(907-909)caC>caT p.H303H PLEKHA2_uc011lce.2_Silent_p.H253H NM_021623 NP_067636 Q9HB19 PKHA2_HUMAN Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA. 303 positive regulation of cell-matrix adhesion cytoplasm|nucleus|plasma membrane|protein complex fibronectin binding|laminin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 13 all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235) TCAAGTGCCACCCCAGAGTAA 0.498 ANK1 286 broad.mit.edu 37 8 41543721 41543721 + Missense_Mutation SNP T T A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:41543721T>A uc003xok.3 - 35 4423 c.4339A>T c.(4339-4341)Agt>Tgt p.S1447C NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S763C|ANK1_uc003xoi.3_Missense_Mutation_p.S1447C|ANK1_uc003xoj.3_Missense_Mutation_p.S1447C|ANK1_uc003xol.3_Missense_Mutation_p.S1447C|ANK1_uc003xom.3_Missense_Mutation_p.S1488C NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 1447 55 kDa regulatory domain.|Death. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AAGGCCACACTCTGCTCCAAC 0.557 IL7 3574 broad.mit.edu 37 8 79645969 79645969 + Silent SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:79645969C>T uc003ybg.3 - 5 1114 c.513G>A c.(511-513)ttG>ttA p.L171L IL7_uc022awh.1_Silent_p.L153L|IL7_uc022awi.1_Silent_p.L127L|IL7_uc022awj.1_Silent_p.L109L|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript NM_000880 NP_000871 P13232 IL7_HUMAN Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA. 171 bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-7 receptor binding endometrium(2)|large_intestine(2)|lung(1) 5 TAGTGCCCATCAAAATTTTAT 0.323 RGS22 26166 broad.mit.edu 37 8 101016271 101016271 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr8:101016271C>T uc003yjb.1 - 16 2705 c.2510G>A c.(2509-2511)cGa>cAa p.R837Q RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 837 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.R837Q(3) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATATTCTGTTCGTTTAGAGAC 0.353 SMARCA2 6595 broad.mit.edu 37 9 2029232 2029232 + Missense_Mutation SNP G G C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:2029232G>C uc003zhc.3 + 1 309 c.210G>C c.(208-210)atG>atC p.M70I SMARCA2_uc003zhd.3_Missense_Mutation_p.M70I|SMARCA2_uc010mha.3_Missense_Mutation_p.M61I NM_003070 NP_003061 P51531 SMCA2_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA. 70 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) AGGAAGGCATGCATCAAATGC 0.493 IL33 90865 broad.mit.edu 37 9 6251142 6251142 + Missense_Mutation SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:6251142A>G uc003zjt.3 + 3 298 c.220A>G c.(220-222)Aga>Gga p.R74G IL33_uc011lmg.2_Missense_Mutation_p.R74G|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron NM_033439 NP_254274 O95760 IL33_HUMAN Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA. 74 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1) 16 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) GTCTGCAGGTAGAAAGCACAA 0.493 ZNF484 83744 broad.mit.edu 37 9 95610513 95610513 + Nonsense_Mutation SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:95610513C>A uc004asu.1 - 4 705 c.556G>T c.(556-558)Gag>Tag p.E186* ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150* NM_031486 NP_001007102 Q5JVG2 ZN484_HUMAN Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA. 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 ATGATAGGCTCCAAATTCTTT 0.343 ZNF462 58499 broad.mit.edu 37 9 109687562 109687562 + Missense_Mutation SNP C C G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:109687562C>G uc004bcz.3 + 2 1658 c.1369C>G c.(1369-1371)Cac>Gac p.H457D MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H305D|ZNF462_uc004bda.3_Missense_Mutation_p.H305D NM_021224 NP_067047 Q96JM2 ZN462_HUMAN Homo sapiens zinc finger protein 462 (ZNF462), mRNA. 457 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CATCTCTCGTCACATAGAAAA 0.438 FAM129B 64855 broad.mit.edu 37 9 130289580 130289580 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:130289580C>T uc004brh.3 - 2 410 c.208G>A c.(208-210)Gtc>Atc p.V70I FAM129B_uc004bri.3_Missense_Mutation_p.V57I|FAM129B_uc004brj.4_Missense_Mutation_p.V70I NM_022833 NP_073744 Q96TA1 NIBL1_HUMAN Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA. 70 PH. protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 CCCGAGAAGACGATGCGCTCG 0.637 PAEP 5047 broad.mit.edu 37 9 138453719 138453719 + Silent SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chr9:138453719C>A uc004cge.1 + 0 116 c.72C>A c.(70-72)acC>acA p.T24T PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010nay.3_Silent_p.T24T|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T NM_001018049 NP_002562 P09466 PAEP_HUMAN Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA. 24 multicellular organismal development extracellular region binding|transporter activity cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1) 6 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) TCCCCCAGACCAAGCAGGACC 0.682 MXRA5 25878 broad.mit.edu 37 X 3235331 3235331 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:3235331C>T uc004crg.4 - 5 6548 c.6391G>A c.(6391-6393)Gcg>Acg p.A2131T NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2131 Ig-like C2-type 5. 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) GTCCTGCGCGCGGAGCCTACC 0.662 MAGEB6 158809 broad.mit.edu 37 X 26212996 26212996 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:26212996C>T uc022buc.1 + 0 1033 c.1033C>T c.(1033-1035)Cgg>Tgg p.R345W MAGEB6_uc004dbr.3_Missense_Mutation_p.R345W NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA. 345 MAGE. p.R345W(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 CGTGGTTTACCGGCAGGTGTG 0.498 USP9X 8239 broad.mit.edu 37 X 41075579 41075579 + Missense_Mutation SNP G G C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:41075579G>C uc004dfb.3 + 34 6392 c.5759G>C c.(5758-5760)tGt>tCt p.C1920S USP9X_uc004dfc.3_Missense_Mutation_p.C1920S NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1920 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 AAAAACCAGTGTTTTGGTGGA 0.388 SLC9A7 84679 broad.mit.edu 37 X 46491045 46491047 + In_Frame_Del DEL GTT GTT - TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:46491045_46491047delGTT uc004dgu.1 - 13 1719_1721 c.1711_1713delAAC c.(1711-1713)aacdel p.N571del NM_032591 NP_115980 Q96T83 SL9A7_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA. 571 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1) 21 GAAAGCTGTCGTTGTTGGGTGGT 0.483 Unknown 0 broad.mit.edu 37 X 51150985 51150985 + Missense_Mutation SNP G G C TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:51150985G>C NUDT10 (70608 upstream) : NUDT11 (81878 downstream) TCCTTCCTGTGGGACTGGCTC 0.602 SSX7 280658 broad.mit.edu 37 X 52677324 52677324 + Silent SNP A A G TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:52677324A>G uc004dqx.1 - 5 612 c.453T>C c.(451-453)atT>atC p.I151I NM_173358 NP_775494 Q7RTT5 SSX7_HUMAN Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA. 151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1) 16 Ovarian(276;0.236) ATGTCTTGTTAATCTTCTCAG 0.512 KIAA2022 340533 broad.mit.edu 37 X 73963402 73963402 + Silent SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:73963402C>T uc004eby.3 - 2 1607 c.990G>A c.(988-990)caG>caA p.Q330Q NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN Homo sapiens KIAA2022 (KIAA2022), mRNA. 330 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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 GGGCATCTTCCTGCATCAAAA 0.448 PAK3 5063 broad.mit.edu 37 X 110406206 110406208 + In_Frame_Del DEL GAA GAA - TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:110406206_110406208delGAA uc010npv.1 + 6 667_669 c.640_642delGAA c.(640-642)gaadel p.E218del PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del NM_001128168 NP_001121640 O75914 PAK3_HUMAN Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA. 197 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 41 agatgaagaggaagaagaagaag 0.394 TSP Lung(19;0.15) KIAA1210 57481 broad.mit.edu 37 X 118220581 118220581 + Missense_Mutation SNP C C T TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:118220581C>T uc004era.4 - 10 4612 c.4612G>A c.(4612-4614)Gtt>Att p.V1538I NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 1538 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTATCTGCAACGTAAGATATT 0.507 DCAF12L1 139170 broad.mit.edu 37 X 125686304 125686304 + Silent SNP C C T rs141018282 TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:125686304C>T uc022cds.1 - 0 288 c.288G>A c.(286-288)acG>acA p.T96T DCAF12L1_uc004eul.3_Silent_p.T96T NM_178470 NP_848565 Q5VU92 DC121_HUMAN Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA. 96 p.T96R(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CCTTGTTGACCGTGCCCAGCT 0.657 USP26 83844 broad.mit.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:132160788delA uc011mvf.2 - 0 1513 c.1461delT c.(1459-1461)tttfs p.F487fs USP26_uc010nrm.1_Frame_Shift_Del_p.F487fs NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA. 487 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity p.F487fs*7(2)|p.G488fs*6(2) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) CTTCTGCTCCAAAAAAAAGAT 0.383 MAGEA10 4109 broad.mit.edu 37 X 151303934 151303934 + Silent SNP G G A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:151303934G>A uc022cgz.1 - 0 159 c.159C>T c.(157-159)ccC>ccT p.P53P MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.P53P|MAGEA10_uc004ffm.2_Silent_p.P53P|MAGEA10_uc004ffl.3_Silent_p.P53P NM_021048 NP_066386 P43363 MAGAA_HUMAN Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA. 53 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) aggaggaggagggaaaagagg 0.562 RENBP 5973 broad.mit.edu 37 X 153209567 153209567 + Missense_Mutation SNP C C A TCGA-27-1838-01A-01D-1494-08 TCGA-27-1838-10A-01D-1494-08 Untested Somatic Phase_I WXS none Illumina GAIIx 881af1d2-3fbc-44dd-8362-e6c386345cf6 d3e925a1-2c02-4722-a862-78d17ef59052 g.chrX:153209567C>A uc004fjo.2 - 2 348 c.178G>T c.(178-180)Gat>Tat p.D60Y RENBP_uc011mzh.1_Missense_Mutation_p.D60Y NM_002910 NP_002901 P51606 RENBP_HUMAN Homo sapiens renin binding protein (RENBP), mRNA. 60 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) TTGAGGTCATCATACACCCGC 0.632