Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut OR8D2 283160 broad.mit.edu 37 11 124189926 124189926 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:124189926G>A ENST00000357438.2 - 1 258 c.168C>T c.(166-168)taC>taT p.Y56Y NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 56 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 25 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) ACACTGGAGGGTAAAGTTGAG 0.438000 11 22 0 0 0.008291 0 0 ABCA12 26154 broad.mit.edu 37 2 215884434 215884434 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:215884434C>T ENST00000272895.7 - 12 1593 c.1374G>A c.(1372-1374)atG>atA p.M458I ABCA12_ENST00000389661.4_Missense_Mutation_p.M140I NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 458 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TCCCAAAGCTCATATCAGAGA 0.463000 9 17 0 0 0.004482 0 0 OR6B1 135946 broad.mit.edu 37 7 143701745 143701745 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:143701745G>A ENST00000408922.2 + 1 724 c.656G>A c.(655-657)gGa>gAa p.G219E NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CTGTCCTACGGATGCATTCTG 0.473000 33 74 0 0 0.002445 0 0 IGHV4-39 28394 broad.mit.edu 37 14 106877922 106877922 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106877922G>A ENST00000390619.2 - 0 121 GCTGGGACAGGACCCCTGTGA 0.592000 14 25 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9012794 9012794 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9012794C>T ENST00000397910.4 - 34 38853 c.38650G>A c.(38650-38652)Gag>Aag p.E12884K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12886 SEA 6. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGACCCGCTCCGTGGTGTTG 0.587000 26 68 0 0 0.004656 0 0 IARS2 55699 broad.mit.edu 37 1 220284190 220284190 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:220284190C>T ENST00000366922.1 + 11 1505 c.1174C>T c.(1174-1176)Ccg>Tcg p.P392S IARS2_ENST00000302637.5_Missense_Mutation_p.P464S Q9NSE4 SYIM_HUMAN isoleucyl-tRNA synthetase 2, mitochondrial 464 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 51 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) GCATAGCTATCCGTATGACTG 0.358000 10 13 0 0 0.006214 0 0 PBRM1 55193 broad.mit.edu 37 3 52649473 52649473 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:52649473C>T ENST00000356770.4 - 14 1725 c.e14-1 PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000410007.1_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000394830.3_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site Q86U86 PB1_HUMAN polybromo 1 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CATTATAAACCTACATTCCAA 0.338000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 7 27 0 0 0.001984 0 0 MLXIPL 51085 broad.mit.edu 37 7 73011984 73011984 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:73011984G>A ENST00000313375.3 - 9 1178 c.1131C>T c.(1129-1131)ctC>ctT p.L377L MLXIPL_ENST00000429400.2_Silent_p.L377L|MLXIPL_ENST00000434326.1_Silent_p.L284L|MLXIPL_ENST00000414749.2_Silent_p.L377L|MLXIPL_ENST00000395189.1_Silent_p.L284L|MLXIPL_ENST00000354613.1_Silent_p.L377L NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 377 anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) CTTCAGGAAGGAGGAAATCAG 0.652000 8 18 0 0 0.004482 0 0 ACSL6 23305 broad.mit.edu 37 5 131310625 131310625 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:131310625G>A ENST00000379264.2 - 11 1137 c.1029C>T c.(1027-1029)tcC>tcT p.S343S ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000379272.2_Silent_p.S333S|ACSL6_ENST00000379240.1_Silent_p.S318S|ACSL6_ENST00000379246.1_Silent_p.S329S|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000296869.4_Intron|ACSL6_ENST00000431707.1_Silent_p.S298S|ACSL6_ENST00000543479.1_Intron|ACSL6_ENST00000379244.1_Intron|ACSL6_ENST00000544770.1_Silent_p.S227S NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 318 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GAGGCAGGAAGGAGATGAGCA 0.517000 4 12 0 0 0.009096 0 0 IL1RL2 8808 broad.mit.edu 37 2 102818036 102818036 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:102818036G>A ENST00000264257.2 + 5 636 c.510G>A c.(508-510)ggG>ggA p.G170G IL1RL2_ENST00000539491.1_Silent_p.G170G|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.G53G NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 170 Ig-like C2-type 2. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 AGATTAAAGGGGAGCGGTTCA 0.413000 10 35 0 0 0.008291 0 0 KCNH5 27133 broad.mit.edu 37 14 63316401 63316401 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:63316401C>T ENST00000322893.7 - 8 1807 c.1539G>A c.(1537-1539)tgG>tgA p.W513* KCNH5_ENST00000394968.1_Nonsense_Mutation_p.W455*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.W513* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 513 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTGACATGGACCATGTTGAGA 0.368000 10 37 0 0 0.000978 0 0 PRDM9 56979 broad.mit.edu 37 5 23526679 23526679 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:23526679G>A ENST00000296682.3 + 11 1664 c.1482G>A c.(1480-1482)atG>atA p.M494I NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 494 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AAAGAATAATGGAAGAAGAGT 0.443000 HNSCC(3;0.000094) 11 13 0 0 0.008291 0 0 CCL4L1 9560 broad.mit.edu 37 17 34539888 34539888 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:34539888C>T ENST00000444414.1 + 3 430 c.196C>T c.(196-198)Caa>Taa p.Q66* CCL4L1_ENST00000589079.1_3'UTR|CCL4L1_ENST00000358756.5_Intron|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000400702.4_3'UTR|CCL4L1_ENST00000588929.1_Intron|CCL4L1_ENST00000378352.4_Intron|CCL4L1_ENST00000389068.5_Intron|CCL4L1_ENST00000591167.1_3'UTR|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000378350.4_3'UTR|CCL4L1_ENST00000591637.1_3'UTR chemokine (C-C motif) ligand 4-like 1 Breast(25;0.102)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CTACGGATTCCAAACCAAAAG 0.522000 16 17 0 0 0.006122 0 0 AKAP8L 26993 broad.mit.edu 37 19 15511150 15511150 + Missense_Mutation SNP C C G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15511150C>G ENST00000397410.4 - 8 1068 c.1004G>C c.(1003-1005)gGa>gCa p.G335A AKAP8L_ENST00000595465.1_Missense_Mutation_p.G274A|AC006128.2_ENST00000599183.1_RNA NM_014371.2 NP_055186.2 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 335 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 11 ATCCTCTTTTCCCTCCTCATC 0.458000 12 41 0 0 0.003163 0 0 DSP 1832 broad.mit.edu 37 6 7581388 7581388 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:7581388G>A ENST00000379802.3 + 23 5306 c.4965G>A c.(4963-4965)agG>agA p.R1655R DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1655 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAGAGCTGAGGAGGCTCTCTT 0.552000 25 81 0 0 0.003954 0 0 GALNTL5 168391 broad.mit.edu 37 7 151704929 151704929 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:151704929G>A ENST00000392800.2 + 7 1180 c.926G>A c.(925-927)gGa>gAa p.G309E GALNTL5_ENST00000431418.2_Missense_Mutation_p.G309E|GALNTL5_ENST00000483959.1_3'UTR NM_145292.3 NP_660335.2 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 309 Catalytic subdomain B. Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) GCAATGTCTGGAGGAATTTTT 0.323000 15 37 0 0 0.004990 0 0 NPAS4 266743 broad.mit.edu 37 11 66191166 66191166 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:66191166C>T ENST00000311034.2 + 6 1102 c.926C>T c.(925-927)gCc>gTc p.A309V NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 309 PAC. transcription, DNA-dependent DNA binding|signal transducer activity p.A309G(1) breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CCCATTACTGCCAATAACTAC 0.532000 12 42 0 0 0.000978 0 0 B4GALT2 8704 broad.mit.edu 37 1 44447572 44447572 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:44447572C>T ENST00000356836.6 + 3 1315 c.525C>T c.(523-525)cgC>cgT p.R175R B4GALT2_ENST00000372324.1_Silent_p.R175R|B4GALT2_ENST00000309519.7_Silent_p.R204R|B4GALT2_ENST00000434555.2_Silent_p.R109R NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 175 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) AGCGGCTGCGCTACGGCGTCT 0.607000 7 29 0 0 0.001984 0 0 OR6C75 390323 broad.mit.edu 37 12 55759740 55759740 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55759740C>T ENST00000343399.3 + 1 846 c.846C>T c.(844-846)ctC>ctT p.L282L NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 282 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TGGCTCCTCTCTTGAATCCCT 0.393000 10 34 0 0 0.008291 0 0 CARD6 84674 broad.mit.edu 37 5 40843599 40843599 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:40843599G>A ENST00000254691.5 + 2 828 c.629G>A c.(628-630)gGa>gAa p.G210E CARD6_ENST00000381677.3_Missense_Mutation_p.G210E NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 210 Asp/Glu-rich. apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TTATACTTAGGAAAAGAGGAA 0.398000 9 15 0 0 0.006214 0 0 ITGAE 3682 broad.mit.edu 37 17 3655001 3655001 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:3655001G>A ENST00000263087.4 - 15 1934 c.1836C>T c.(1834-1836)ttC>ttT p.F612F NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 612 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ACACACTGCCGAAGCTGGCAC 0.612000 18 56 0 0 0.006122 0 0 FAT2 2196 broad.mit.edu 37 5 150922197 150922197 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:150922197G>A ENST00000261800.5 - 9 8503 c.8491C>T c.(8491-8493)Cag>Tag p.Q2831* NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2831 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGCTCACCTGGCCATCTCTC 0.517000 19 28 0 0 0.001882 0 0 RELN 5649 broad.mit.edu 37 7 103113260 103113260 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:103113260C>T ENST00000428762.1 - 65 10541 c.10382G>A c.(10381-10383)tGa>tAa p.*3461* RELN_ENST00000343529.5_Silent_p.*3459*|RELN_ENST00000424685.2_Silent_p.*3461*|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 0 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) TTTGATTCTTCATGGGTATCG 0.363000 7 16 0 0 0.001984 0 0 PRRC2B 84726 broad.mit.edu 37 9 134321958 134321958 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:134321958C>T ENST00000357304.4 + 6 839 c.784C>T c.(784-786)Cga>Tga p.R262* PRRC2B_ENST00000405995.1_Nonsense_Mutation_p.R262*|PRRC2B_ENST00000458550.1_Nonsense_Mutation_p.R262* NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 262 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 TCAGCCTGTCCGAAAAGGGGC 0.537000 9 14 0 0 0.004482 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762527 130762527 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:130762527G>A ENST00000392429.1 + 2 3338 c.960G>A c.(958-960)agG>agA p.R320R TMEM200A_ENST00000296978.3_Silent_p.R320R|TMEM200A_ENST00000545622.1_Silent_p.R320R NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 320 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GTAGGTCAAGGAATTTGTCAA 0.428000 11 46 0 0 0.008291 0 0 PHGDH 26227 broad.mit.edu 37 1 120277300 120277300 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:120277300C>T ENST00000369407.3 + 5 1959 c.452C>T c.(451-453)tCc>tTc p.S151F PHGDH_ENST00000369409.4_Missense_Mutation_p.S185F O43175 SERA_HUMAN phosphoglycerate dehydrogenase 185 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2) 18 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) GTCTCGGCCTCCTTTGGTGTT 0.507000 381 1097 0 0 0.003610 0 0 GTSE1 51512 broad.mit.edu 37 22 46722511 46722511 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:46722511C>T ENST00000454366.1 + 9 1896 c.1684C>T c.(1684-1686)Cgg>Tgg p.R562W NM_016426.6 NP_057510.4 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 543 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 27 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TGTGCCAGCTCGGAGACGTTC 0.597000 7 40 0 0 0.001984 0 0 FAM169A 26049 broad.mit.edu 37 5 74130407 74130407 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:74130407C>T ENST00000389156.4 - 5 424 c.334G>A c.(334-336)Gag>Aag p.E112K FAM169A_ENST00000510496.1_Missense_Mutation_p.E112K|FAM169A_ENST00000380515.3_Intron NM_015566.2 NP_056381.1 Q9Y6X4 F169A_HUMAN family with sequence similarity 169, member A 112 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1) 27 ACCACTCTCTCCCCAAGAGTG 0.408000 3 13 0 0 0.009096 0 0 EYA2 2139 broad.mit.edu 37 20 45771711 45771711 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:45771711C>T ENST00000327619.5 + 10 1276 c.902C>T c.(901-903)tCc>tTc p.S301F EYA2_ENST00000357410.3_Missense_Mutation_p.S301F|EYA2_ENST00000317304.6_Intron NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 301 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) ACCACGACGTCCGTGCGCATT 0.493000 16 24 0 0 0.004990 0 0 FLG2 388698 broad.mit.edu 37 1 152329303 152329303 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152329303C>T ENST00000388718.5 - 3 1031 c.959G>A c.(958-960)gGa>gAa p.G320E FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 320 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCTTAATTCCTGACTGACA 0.483000 28 64 0 0 0.005443 0 0 BTBD7 55727 broad.mit.edu 37 14 93720013 93720013 + Missense_Mutation SNP G G A rs143914698 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:93720013G>A ENST00000334746.5 - 7 2039 c.1732C>T c.(1732-1734)Ccc>Tcc p.P578S BTBD7_ENST00000393170.2_Missense_Mutation_p.P152S|BTBD7_ENST00000554565.1_Missense_Mutation_p.P227S NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 578 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) TCCACATAGGGAGAGAAGAGT 0.398000 9 44 0 0 0.006214 0 0 GLYATL1 92292 broad.mit.edu 37 11 58711032 58711032 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:58711032G>A ENST00000300079.5 + 2 91 c.41G>A c.(40-42)gGa>gAa p.G14E RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_5'UTR NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 0 mitochondrion glycine N-acyltransferase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) tcacaagaaggatctgaagtg 0.438000 7 11 0 0 0.001984 0 0 C11orf73 51501 broad.mit.edu 37 11 86017395 86017395 + Missense_Mutation SNP C C T rs11539213 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:86017395C>T ENST00000533986.1 + 2 377 c.139C>T c.(139-141)Cct>Tct p.P47S C11orf73_ENST00000278483.3_Missense_Mutation_p.P47S|C11orf73_ENST00000530208.1_3'UTR Q53FT3 CK073_HUMAN chromosome 11 open reading frame 73 47 P -> A (in dbSNP:rs11539213). cytoplasm kidney(1)|large_intestine(1)|urinary_tract(1) 3 Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556) AATCCCATTTCCTGAGGGAAT 0.423000 12 31 0 0 0.000978 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058892 152058892 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152058892C>T ENST00000368806.1 - 3 1330 c.1266G>A c.(1264-1266)caG>caA p.Q422Q NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 422 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACTTCCCATCCTGTGTTTGGG 0.458000 27 45 0 0 0.004656 0 0 PNLDC1 154197 broad.mit.edu 37 6 160239999 160239999 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:160239999C>T ENST00000275275.5 + 17 1417 c.1246C>T c.(1246-1248)Ccc>Tcc p.P416S PNLDC1_ENST00000392167.3_Missense_Mutation_p.P427S NM_001271862.1|NM_173516.1 NP_001258791.1|NP_775787.1 Q8NA58 PNDC1_HUMAN poly(A)-specific ribonuclease (PARN)-like domain containing 1 416 integral to membrane|nucleus nucleic acid binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 31 Breast(66;0.00519)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) TCCAGATTATCCCAGTATCCG 0.443000 19 78 0 0 0.010504 0 0 CADM2 253559 broad.mit.edu 37 3 85851313 85851313 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:85851313G>A ENST00000383699.3 + 3 832 c.205G>A c.(205-207)Gct>Act p.A69T CADM2-AS2_ENST00000467225.1_RNA|CADM2_ENST00000405615.2_Missense_Mutation_p.A62T|CADM2_ENST00000407528.2_Missense_Mutation_p.A60T NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 60 Ig-like V-type. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) GTCAAATCCAGCTCAACAGAC 0.353000 11 17 0 0 0.000978 0 0 OR51D1 390038 broad.mit.edu 37 11 4661821 4661821 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:4661821C>T ENST00000357605.2 + 1 877 c.801C>T c.(799-801)ccC>ccT p.P267P NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTATGTACCCCTCATTGGGC 0.557000 36 61 0 0 0.003755 0 0 KSR2 283455 broad.mit.edu 37 12 117914313 117914313 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:117914313C>T ENST00000425217.1 - 17 2505 c.2451G>A c.(2449-2451)gaG>gaA p.E817E KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.E846E NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 846 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGAGCTTATCCTCCTCTGTGT 0.607000 4 12 0 0 0.000602 0 0 IGKV2-24 28923 broad.mit.edu 37 2 89475938 89475938 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:89475938G>A ENST00000484817.1 - 0 263 CAGAGAACCGGTTAGAAATCT 0.502000 36 83 0 0 0.004878 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:80328367G>A ENST00000358842.3 - 1 1005 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 330 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTAGCCAACGAATAACAGCA 0.428000 14 53 0 0 0.003163 0 0 COBLL1 22837 broad.mit.edu 37 2 165548907 165548907 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:165548907C>T ENST00000375458.2 - 12 3345 c.3123_splice c.e12-1 p.E1042_splice COBLL1_ENST00000194871.6_Splice_Site_p.E1147_splice|COBLL1_ENST00000342193.4_Splice_Site_p.E1080_splice|COBLL1_ENST00000392717.2_Splice_Site_p.E1118_splice|COBLL1_ENST00000409184.3_Splice_Site_p.E1080_splice NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 1118 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GAGTTATTTTCCTACAAAAAT 0.318000 7 17 0 0 0.001984 0 0 GLI2 2736 broad.mit.edu 37 2 121685022 121685022 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:121685022T>A ENST00000452319.1 + 3 294 c.234T>A c.(232-234)caT>caA p.H78Q GLI2_ENST00000361492.4_Missense_Mutation_p.H78Q|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 78 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) ACGAGCCTCATTCTGTCCACG 0.622000 28 74 0 0 0.007291 0 0 ANKH 56172 broad.mit.edu 37 5 14758637 14758637 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:14758637C>T ENST00000284268.6 - 3 714 c.384G>A c.(382-384)acG>acA p.T128T NM_054027.4 NP_473368.1 Q9HCJ1 ANKH_HUMAN ANKH inorganic pyrophosphate transport regulator 128 locomotory behavior|regulation of bone mineralization|skeletal system development integral to plasma membrane|outer membrane inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 29 AGGCCCTTCTCGTCTTGCTCC 0.448000 8 24 0 0 0.004482 0 0 SETBP1 26040 broad.mit.edu 37 18 42532839 42532839 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:42532839C>T ENST00000282030.5 + 4 3830 c.3534C>T c.(3532-3534)gcC>gcT p.A1178A NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 1178 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CAGGCAAAGCCACAGGCTTCT 0.527000 Schinzel-Giedion syndrome 24 39 0 0 0.004656 0 0 LONRF2 164832 broad.mit.edu 37 2 100916188 100916188 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:100916188G>A ENST00000393437.3 - 5 1897 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S LONRF2_ENST00000409647.1_Missense_Mutation_p.P177S NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 420 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 CCTTTCTTGGGAATTTTTCCA 0.418000 17 48 0 0 0.010504 0 0 CWH43 80157 broad.mit.edu 37 4 49005819 49005819 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:49005819C>T ENST00000226432.4 + 7 1053 c.870C>T c.(868-870)ttC>ttT p.F290F CWH43_ENST00000513409.1_Silent_p.F263F NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 290 GPI anchor biosynthetic process integral to membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 GCTGTGTCTTCGCCATCTTTA 0.488000 21 30 0 0 0.001882 0 0 FAT4 79633 broad.mit.edu 37 4 126372253 126372253 + Missense_Mutation SNP T T G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:126372253T>G ENST00000394329.3 + 9 10095 c.10082T>G c.(10081-10083)cTt>cGt p.L3361R FAT4_ENST00000335110.5_Missense_Mutation_p.L1659R NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3361 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCTGGAATTCTTGATCGAGAA 0.403000 27 63 0 0 0.007291 0 0 STRA13 201254 broad.mit.edu 37 17 79980702 79980702 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:79980702C>T ENST00000392359.3 - 1 92 c.36_splice c.e1+1 p.K12_splice STRA13_ENST00000584347.1_Splice_Site_p.K12_splice|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site_p.K12_splice|STRA13_ENST00000580435.1_Splice_Site_p.K12_splice NM_001271006.1 NP_001257935.1 A8MT69 CENPX_HUMAN stimulated by retinoic acid 13 12 DNA repair chromosome, centromeric region|Fanconi anaemia nuclear complex DNA binding|protein binding all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CGGCCCTCACCTTCCGGAAGC 0.741000 6 3 0 0 0.001984 0 0 FRG1B 284802 broad.mit.edu 37 20 29633900 29633900 + Missense_Mutation SNP A A G rs60081496 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:29633900A>G ENST00000278882.3 + 9 919 c.539A>G c.(538-540)gAa>gGa p.E180G FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G p.E180G(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAAACAAGAGAACCAAATTGA 0.264000 8 33 0 0 0.004482 0 0 CD70 970 broad.mit.edu 37 19 6590921 6590921 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:6590921C>T ENST00000245903.3 - 1 242 c.93G>A c.(91-93)gtG>gtA p.V31V CD70_ENST00000423145.3_Silent_p.V31V NM_001252.3 NP_001243.1 P32970 CD70_HUMAN CD70 molecule 31 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to membrane of membrane fraction|integral to plasma membrane cytokine activity|protease binding|tumor necrosis factor receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1) 11 CGAGGCAGATCACCAAGCCCG 0.642000 32 51 0 0 0.002836 0 0 RDH16 8608 broad.mit.edu 37 12 57348915 57348915 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:57348915G>A ENST00000398138.3 - 2 1203 c.347C>T c.(346-348)tCc>tTc p.S116F RDH16_ENST00000360752.4_Intron NM_003708.3 NP_003699.3 O75452 RDH16_HUMAN retinol dehydrogenase 16 (all-trans) 116 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9) 16 CGTGGGCAAGGAGATGCCAGC 0.552000 7 16 0 0 0.001984 0 0 DUSP27 92235 broad.mit.edu 37 1 167097024 167097024 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:167097024G>A ENST00000361200.2 + 6 2822 c.2656G>A c.(2656-2658)Gat>Aat p.D886N DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.D886N|DUSP27_ENST00000443333.1_Missense_Mutation_p.D886N Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 886 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GGGTGATGGGGATGAGGACAC 0.498000 14 25 0 0 0.004007 0 0 ZP2 7783 broad.mit.edu 37 16 21211163 21211163 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:21211163G>A ENST00000574002.1 - 16 2213 c.1731C>T c.(1729-1731)ttC>ttT p.F577F ZP2_ENST00000574091.1_Silent_p.F568F|ZP2_ENST00000219593.4_Silent_p.F577F|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 577 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) CGACTGGATGGAAGGTGGTCT 0.502000 17 50 0 0 0.007413 0 0 TBC1D32 221322 broad.mit.edu 37 6 121615761 121615761 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:121615761T>C ENST00000275159.6 - 11 1185 c.1186A>G c.(1186-1188)Aag>Gag p.K396E TBC1D32_ENST00000398212.2_Missense_Mutation_p.K396E TBC1 domain family, member 32 TTCCTAGTCTTACACATTTCA 0.318000 31 92 0 0 0.003755 0 0 SOGA3 387104 broad.mit.edu 37 6 127796945 127796945 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127796945C>T ENST00000556132.1 - 6 3090 c.2226G>A c.(2224-2226)ctG>ctA p.L742L SOGA3_ENST00000465909.2_Silent_p.L742L|SOGA3_ENST00000368268.2_Silent_p.L742L|SOGA3_ENST00000481848.2_Silent_p.L742L|SOGA3_ENST00000525778.1_Silent_p.L742L NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 742 integral to membrane CGCGGATGCCCAGGTGCGAGG 0.677000 36 108 0 0 0.009718 0 0 TRBV28 28559 broad.mit.edu 37 7 142428863 142428863 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142428863G>A ENST00000390400.2 + 0 243 TAAAATGAAAGAAAAAGGAGA 0.453000 6 18 0 0 0.001984 0 0 CD300LG 146894 broad.mit.edu 37 17 41939181 41939181 + Missense_Mutation SNP G G A rs147587037 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:41939181G>A ENST00000317310.4 + 7 942 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 301 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GGAGGAAAAGGAAGCCCCTTC 0.602000 19 15 0 0 0.001882 0 0 ROS1 6098 broad.mit.edu 37 6 117674322 117674322 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:117674322G>A ENST00000368508.3 - 26 4350 c.4152C>T c.(4150-4152)acC>acT p.T1384T GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.T1378T NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1384 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) AGCTAACAAGGGTTTTTCCTG 0.308000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 9 30 0 0 0.004482 0 0 TFAP2B 7021 broad.mit.edu 37 6 50791256 50791256 + Missense_Mutation SNP C C T rs80338910 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:50791256C>T ENST00000263046.4 + 3 411 c.245C>T c.(244-246)cCc>cTc p.P82L TFAP2B_ENST00000393655.3_Missense_Mutation_p.P73L|TFAP2B_ENST00000489228.1_3'UTR Q92481 AP2B_HUMAN transcription factor AP-2 beta (activating enhancer binding protein 2 beta) 73 Gln/Pro-rich (transactivation domain). nervous system development|positive regulation of transcription from RNA polymerase II promoter protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1) 40 Lung NSC(77;0.156) TTCCCACCCCCCTACCAGCCG 0.682000 8 28 0 0 0.003080 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111595649 111595649 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:111595649C>T ENST00000261486.5 - 8 946 c.670G>A c.(670-672)Gga>Aga p.G224R NM_022140.3 NP_071423.3 Q9HCS5 E41LA_HUMAN erythrocyte membrane protein band 4.1 like 4A 224 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1) 34 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) GGAGTTAATCCTAAGAAATAC 0.358000 9 25 0 0 0.008291 0 0 DNAH8 1769 broad.mit.edu 37 6 38897335 38897335 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38897335C>T ENST00000359357.3 + 73 10770 c.10516C>T c.(10516-10518)Ctt>Ttt p.L3506F DNAH8_ENST00000441566.1_Missense_Mutation_p.L3470F|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.L3723F|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GGAGGACAGCCTTTCCTTGGG 0.413000 23 74 0 0 0.006320 0 0 DEFB118 117285 broad.mit.edu 37 20 29960723 29960723 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:29960723G>A ENST00000253381.2 + 2 155 c.122G>A c.(121-123)gGa>gAa p.G41E NM_054112.2 NP_473453.1 Q96PH6 DB118_HUMAN defensin, beta 118 41 cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis extracellular region breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1) 14 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) TGCAAAGATGGAGAAGCAGTG 0.433000 15 22 0 0 0.004990 0 0 C9orf78 51759 broad.mit.edu 37 9 132593232 132593232 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:132593232G>A ENST00000372447.3 - 6 513 c.460C>T c.(460-462)Cgt>Tgt p.R154C C9orf78_ENST00000461762.1_5'UTR NM_016520.2 NP_057604.1 Q9NZ63 CI078_HUMAN chromosome 9 open reading frame 78 154 kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2) 13 Ovarian(14;0.00556) GAGGAAACACGGATGTTTTCT 0.473000 10 15 0 0 0.006214 0 0 CDCA7L 55536 broad.mit.edu 37 7 21942684 21942684 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:21942684G>A ENST00000406877.3 - 9 1525 c.1246C>T c.(1246-1248)Cgg>Tgg p.R416W CDCA7L_ENST00000356195.5_Missense_Mutation_p.R382W|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R370W NM_018719.4 NP_061189.2 Q96GN5 CDA7L_HUMAN cell division cycle associated 7-like 416 positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 29 TCACGCTTCCGACAGTAGCTG 0.493000 9 18 0 0 0.004482 0 0 TTC6 319089 broad.mit.edu 37 14 38273927 38273927 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:38273927C>T ENST00000553443.1 + 21 4072 c.4072C>T c.(4072-4074)Cat>Tat p.H1358Y TTC6_ENST00000382320.3_Missense_Mutation_p.H72Y|TTC6_ENST00000267368.7_Missense_Mutation_p.H89Y|TTC6_ENST00000476979.1_Missense_Mutation_p.H89Y tetratricopeptide repeat domain 6 central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 14 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176) GBM - Glioblastoma multiforme(112;0.00551) TGCCATTTCTCATTCTGATAA 0.398000 50 69 0 0 0.003610 0 0 COL18A1 80781 broad.mit.edu 37 21 46900762 46900762 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:46900762C>T ENST00000359759.4 + 12 2867 c.2846C>T c.(2845-2847)cCt>cTt p.P949L COL18A1_ENST00000355480.5_Missense_Mutation_p.P714L|COL18A1_ENST00000400337.2_Missense_Mutation_p.P534L P39060 COIA1_HUMAN collagen, type XVIII, alpha 1 949 Triple-helical region 3 (COL3). cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) CCCGGGTTTCCTGGCCTCCCG 0.711000 9 9 0 0 0.000978 0 0 CARD6 84674 broad.mit.edu 37 5 40853624 40853624 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:40853624C>T ENST00000254691.5 + 3 2389 c.2190C>T c.(2188-2190)aaC>aaT p.N730N CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 730 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 TTCTAGAGAACTCCTGGCTCT 0.498000 46 156 0 0 0.003610 0 0 LAMA2 3908 broad.mit.edu 37 6 129833584 129833584 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:129833584G>A ENST00000421865.2 + 63 8983 c.8934G>A c.(8932-8934)ctG>ctA p.L2978L NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2978 Laminin G-like 5. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.L2978L(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAGTTCTTCTGGGGATCAGTA 0.358000 25 67 0 0 0.003954 0 0 IL17RC 84818 broad.mit.edu 37 3 9965687 9965687 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:9965687C>T ENST00000295981.3 + 8 1176 c.958C>T c.(958-960)Cgg>Tgg p.R320W IL17RC_ENST00000416074.2_Missense_Mutation_p.R105W|IL17RC_ENST00000413608.1_Missense_Mutation_p.R249W|IL17RC_ENST00000383812.4_Missense_Mutation_p.R234W|IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000403601.3_Missense_Mutation_p.R249W|IL17RC_ENST00000455057.1_Missense_Mutation_p.R234W NM_153461.3 NP_703191.1 Q8NAC3 I17RC_HUMAN interleukin 17 receptor C 320 integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 CCCAAAACCCCGGTGGCACAA 0.577000 7 40 0 0 0.003080 0 0 AOC3 8639 broad.mit.edu 37 17 41006581 41006581 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:41006581G>A ENST00000308423.2 + 2 1877 c.1717G>A c.(1717-1719)Gag>Aag p.E573K AOC3_ENST00000591562.1_Missense_Mutation_p.E30K NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 573 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GGAGATGGAGGAGCAGGCCGC 0.657000 22 27 0 0 0.001882 0 0 OR7A5 26659 broad.mit.edu 37 19 14938706 14938706 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:14938706G>A ENST00000322301.3 - 2 435 c.348C>T c.(346-348)tcC>tcT p.S116S OR7A5_ENST00000594432.1_Silent_p.S116S|OR7A5_ENST00000601611.1_Intron Q15622 OR7A5_HUMAN olfactory receptor, family 7, subfamily A, member 5 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 AGGCCATCACGGACAGGAGGA 0.478000 12 37 0 0 0.001855 0 0 C1orf173 127254 broad.mit.edu 37 1 75037506 75037506 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:75037506C>T ENST00000326665.5 - 14 4106 c.3888G>A c.(3886-3888)gaG>gaA p.E1296E C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1296 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TGTCCTCTTCCTCCTCTGGGT 0.532000 28 75 0 0 0.006320 0 0 KYNU 8942 broad.mit.edu 37 2 143713841 143713841 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:143713841C>T ENST00000264170.4 + 6 763 c.505C>T c.(505-507)Cat>Tat p.H169Y KYNU_ENST00000409512.1_Missense_Mutation_p.H169Y|KYNU_ENST00000375773.2_Missense_Mutation_p.H169Y NM_003937.2 NP_003928.1 Q16719 KYNU_HUMAN kynureninase 169 anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6 cytosol|mitochondrion|soluble fraction kynureninase activity|protein homodimerization activity large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4) 36 BRCA - Breast invasive adenocarcinoma(221;0.072) L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114) CCCTTCTGATCATGTAAGGAC 0.343000 5 16 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9063963 9063963 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9063963G>A ENST00000397910.4 - 3 23686 c.23483C>T c.(23482-23484)tCc>tTc p.S7828F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7830 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S7828Y(2)|p.S3461Y(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGGGGTCAGGGAGGAAGCTAG 0.542000 21 49 0 0 0.001882 0 0 RYR1 6261 broad.mit.edu 37 19 39008001 39008001 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:39008001C>T ENST00000355481.4 + 66 9819 c.9688C>T c.(9688-9690)Ctg>Ttg p.L3230L RYR1_ENST00000360985.3_Silent_p.L3230L|RYR1_ENST00000359596.3_Silent_p.L3230L NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 3230 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TACCCCAGTCCTGGGGCTCCC 0.637000 12 16 0 0 0.001368 0 0 HAS1 3036 broad.mit.edu 37 19 52217175 52217175 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:52217175G>A ENST00000540069.2 - 5 1299 c.1239C>T c.(1237-1239)ttC>ttT p.F413F HAS1_ENST00000601714.1_Silent_p.F421F|HAS1_ENST00000222115.1_Silent_p.F414F|HAS1_ENST00000594621.1_3'UTR Q92839 HAS1_HUMAN hyaluronan synthase 1 414 cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 40 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGGCCGCCACGAAGAAGGGGA 0.672000 6 22 0 0 0.006214 0 0 PLCH1 23007 broad.mit.edu 37 3 155200524 155200524 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:155200524C>T ENST00000460012.1 - 23 3558 c.3201G>A c.(3199-3201)gtG>gtA p.V1067V PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Silent_p.V1067V|PLCH1_ENST00000340059.7_Silent_p.V1105V|PLCH1_ENST00000334686.6_Silent_p.V1067V Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1105 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CCTTGATTTTCACACCATGCA 0.478000 32 77 0 0 0.008361 0 0 SPC25 57405 broad.mit.edu 37 2 169733823 169733823 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:169733823C>T ENST00000282074.2 - 4 412 c.271G>A c.(271-273)Ggc>Agc p.G91S SPC25_ENST00000472216.2_5'UTR NM_020675.3 NP_065726.1 Q9HBM1 SPC25_HUMAN SPC25, NDC80 kinetochore complex component 91 Interaction with the N-terminus of SPBC24. cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1) 9 TGCTTTTTGCCTTTTACTTCA 0.338000 13 37 0 0 0.001368 0 0 RP1L1 94137 broad.mit.edu 37 8 10470524 10470524 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:10470524C>T ENST00000382483.3 - 4 1307 c.1084G>A c.(1084-1086)Gta>Ata p.V362I NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 362 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGGGGTCTACCTCCCCCAGA 0.682000 27 34 0 0 0.005443 0 0 FAM83B 222584 broad.mit.edu 37 6 54805518 54805518 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54805518C>T ENST00000306858.7 + 5 1865 c.1749C>T c.(1747-1749)acC>acT p.T583T NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 583 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCCCAGACACCCCTACGAATG 0.468000 11 33 0 0 0.000978 0 0 FAM171A1 221061 broad.mit.edu 37 10 15290723 15290723 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:15290723G>A ENST00000378116.4 - 5 675 c.669C>T c.(667-669)ccC>ccT p.P223P NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 223 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TGACATAGATGGGACCATCCA 0.587000 21 49 0 0 0.010504 0 0 FCRL1 115350 broad.mit.edu 37 1 157771861 157771861 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:157771861G>A ENST00000358292.3 - 5 781 c.730C>T c.(730-732)Cac>Tac p.H244Y FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.H244Y|FCRL1_ENST00000368176.3_Missense_Mutation_p.H244Y NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 244 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity p.H244N(2) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ATATCCTCGTGATAAAACCAG 0.582000 13 28 0 0 0.001855 0 0 USP16 10600 broad.mit.edu 37 21 30400247 30400247 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:30400247C>T ENST00000334352.4 + 3 244 c.13C>T c.(13-15)Cgg>Tgg p.R5W USP16_ENST00000399975.3_Missense_Mutation_p.R5W|USP16_ENST00000399976.2_Missense_Mutation_p.R5W|USP16_ENST00000535828.1_Intron NM_001032410.1 NP_001027582.1 Q9Y5T5 UBP16_HUMAN ubiquitin specific peptidase 16 5 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2) 34 GGGAAAGAAACGGACAAAGGG 0.299000 3 14 0 0 0.004672 0 0 ANO4 121601 broad.mit.edu 37 12 101493365 101493365 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:101493365G>A ENST00000392979.3 + 21 2272 c.1911G>A c.(1909-1911)caG>caA p.Q637Q ANO4_ENST00000299222.9_Silent_p.Q192Q|ANO4_ENST00000550015.1_Silent_p.Q192Q|ANO4_ENST00000392977.3_Silent_p.Q672Q NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 672 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 GGTTAATTCAGAATTGGTGGA 0.343000 HNSCC(74;0.22) 22 32 0 0 0.003954 0 0 PAPPA2 60676 broad.mit.edu 37 1 176681099 176681099 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:176681099G>A ENST00000367662.3 + 12 4944 c.3780G>A c.(3778-3780)gaG>gaA p.E1260E NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1260 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGAAGAAAGAGGATGAGGTTT 0.468000 6 23 0 0 0.001984 0 0 VPS13B 157680 broad.mit.edu 37 8 100523548 100523548 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:100523548C>T ENST00000358544.2 + 29 4627 c.4516C>T c.(4516-4518)Cct>Tct p.P1506S VPS13B_ENST00000357162.2_Missense_Mutation_p.P1481S|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1506 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TCTTTATTTTCCTTTACTTAA 0.353000 7 22 0 0 0.001984 0 0 MTUS2 23281 broad.mit.edu 37 13 29599514 29599514 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:29599514G>A ENST00000431530.3 + 1 767 c.709G>A c.(709-711)Gca>Aca p.A237T NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 227 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CGCTGTCCCGGCAGCTTTCCC 0.587000 16 28 0 0 0.004007 0 0 CSMD1 64478 broad.mit.edu 37 8 3267060 3267060 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:3267060G>A ENST00000520002.1 - 14 2187 c.1632C>T c.(1630-1632)ttC>ttT p.F544F CSMD1_ENST00000539096.1_Silent_p.F543F|CSMD1_ENST00000537824.1_Silent_p.F543F|CSMD1_ENST00000602723.1_Silent_p.F544F|CSMD1_ENST00000602557.1_Silent_p.F544F|CSMD1_ENST00000400186.3_Silent_p.F544F|CSMD1_ENST00000542608.1_Silent_p.F543F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 544 Sushi 3. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTCCATGGAGGAAACTGCTGC 0.507000 4 5 0 0 0.009096 0 0 EIF2B5 8893 broad.mit.edu 37 3 183859858 183859858 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:183859858G>A ENST00000273783.3 + 8 1424 c.1302_splice c.e8+1 p.Q434_splice EIF2B5_ENST00000444495.1_Splice_Site_p.Q434_splice NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 434 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) TCACTTCCCAGGTGAGACCTG 0.507000 13 25 0 0 0.002450 0 0 ZNF670 93474 broad.mit.edu 37 1 247200868 247200868 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247200868G>A ENST00000366503.2 - 4 1211 c.1053C>T c.(1051-1053)gcC>gcT p.A351A NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 351 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) GGCTTCGAAGGGCACTGGAAG 0.403000 22 27 0 0 0.003954 0 0 PGM1 5236 broad.mit.edu 37 1 64120092 64120092 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:64120092C>T ENST00000371083.4 + 10 1976 c.1608C>T c.(1606-1608)atC>atT p.I536I PGM1_ENST00000483707.1_3'UTR|PGM1_ENST00000371084.3_Silent_p.I518I|PGM1_ENST00000540265.1_Silent_p.I321I NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 518 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 GGCTGTACATCGATAGCTATG 0.532000 11 22 0 0 0.000978 0 0 SCN10A 6336 broad.mit.edu 37 3 38798227 38798227 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38798227C>T ENST00000449082.2 - 9 1227 c.1228G>A c.(1228-1230)Gaa>Aaa p.E410K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 410 sensory perception voltage-gated sodium channel complex p.E410Q(1) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GCTTCAATTTCATCAGTGGTT 0.498000 36 64 0 0 0.003271 0 0 CERS6 253782 broad.mit.edu 37 2 169487543 169487543 + Silent SNP C C T rs146884858 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:169487543C>T ENST00000305747.6 + 4 1043 c.456C>T c.(454-456)ttC>ttT p.F152F CERS6_ENST00000392687.4_Silent_p.F152F NM_203463.2 NP_982288.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 152 TLC. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity p.F152F(1) GAGTCAGATTCCTGAAAAAGG 0.294000 17 38 0 0 0.008871 0 0 LRP1B 53353 broad.mit.edu 37 2 141215150 141215150 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:141215150C>T ENST00000389484.3 - 61 10667 c.9696G>A c.(9694-9696)ggG>ggA p.G3232G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3232 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACTTGGTTTTCCCATCAGTCC 0.428000 TSP Lung(27;0.18) 14 45 0 0 0.003163 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142197710 142197710 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142197710C>T ENST00000471935.1 - 0 267 CACCGTTATTCTGAAACTGAA 0.483000 12 34 0 0 0.001855 0 0 ZBTB1 22890 broad.mit.edu 37 14 64989825 64989825 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:64989825C>T ENST00000358738.3 + 2 1994 c.1603C>T c.(1603-1605)Cga>Tga p.R535* RP11-973N13.4_ENST00000554918.1_RNA|ZBTB1_ENST00000394712.2_Nonsense_Mutation_p.R535*|ZBTB1_ENST00000554015.1_Nonsense_Mutation_p.R535* NM_014950.2 NP_055765.2 Q9Y2K1 ZBTB1_HUMAN zinc finger and BTB domain containing 1 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R535*(1) kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CTGCCCTTTTCGATGTCCTAA 0.363000 30 68 0 0 0.004289 0 0 C2CD2 25966 broad.mit.edu 37 21 43338965 43338965 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:43338965C>T ENST00000380486.3 - 4 838 c.597_splice c.e4+1 p.E199_splice C2CD2_ENST00000329623.7_Splice_Site_p.E44_splice NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 199 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 ACGGACTGACCTCCCCCAGTG 0.517000 17 29 0 0 0.007413 0 0 LCT 3938 broad.mit.edu 37 2 136570092 136570092 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:136570092G>A ENST00000264162.2 - 7 2152 c.2142C>T c.(2140-2142)aaC>aaT p.N714N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 714 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) GCCACACATGGTTCACGTGTT 0.537000 20 38 0 0 0.010504 0 0 SPANXD 64648 broad.mit.edu 37 X 140785801 140785801 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:140785801G>A ENST00000370515.3 - 2 448 c.115C>T c.(115-117)Ccg>Tcg p.P39S NM_032417.2|NM_145665.1 NP_115793.1|NP_663698.1 SPANX family, member D breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Acute lymphoblastic leukemia(192;7.65e-05) AGTTTTTTCGGAGCAGGTTGC 0.483000 35 23 0 0 0.003755 0 0 PTGDS 5730 broad.mit.edu 37 9 139873783 139873783 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:139873783C>T ENST00000224167.2 + 3 438 c.363C>T c.(361-363)ccC>ccT p.P121P PTGDS_ENST00000371625.3_Intron|PTGDS_ENST00000460340.1_3'UTR P41222 PTGDS_HUMAN prostaglandin D2 synthase 21kDa (brain) 111 prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1) 7 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.19) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CCCCTGGGCCCAGCCTGGGGG 0.716000 15 15 0 0 0.002450 0 0 DBX2 440097 broad.mit.edu 37 12 45429837 45429837 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:45429837G>A ENST00000332700.6 - 2 635 c.464C>T c.(463-465)tCc>tTc p.S155F NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 155 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) gcgccgacaggacccaccgca 0.478000 7 10 0 0 0.001984 0 0 OR4K2 390431 broad.mit.edu 37 14 20344656 20344656 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20344656C>T ENST00000298642.2 + 1 266 c.230C>T c.(229-231)gCc>gTc p.A77V NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTTCTTTCGCCACCCCAAAG 0.413000 43 67 0 0 0.007835 0 0 RP1L1 94137 broad.mit.edu 37 8 10467708 10467708 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:10467708C>T ENST00000382483.3 - 4 4123 c.3900G>A c.(3898-3900)gaG>gaA p.E1300E NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1300 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTAATTGCACCTCTTCTTGCA 0.498000 17 50 0 0 0.007413 0 0 HERC2P3 283755 broad.mit.edu 37 15 20588503 20588503 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:20588503G>A ENST00000428453.1 - 0 4247 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CTTCCCTAGGGAAAACCTGAG 0.488000 3 24 0 0 0.004672 0 0 TRERF1 55809 broad.mit.edu 37 6 42196395 42196395 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:42196395C>T ENST00000541110.1 - 18 3919 c.3351G>A c.(3349-3351)aaG>aaA p.K1117K TRERF1_ENST00000340840.2_Silent_p.K1026K|TRERF1_ENST00000372917.4_Silent_p.K1026K|TRERF1_ENST00000372922.4_Silent_p.K1097K|TRERF1_ENST00000354325.2_Silent_p.K1014K Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1097 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGCTTTTGATCTTGAAGAAGA 0.468000 80 288 0 0 0.003610 0 0 TNXB 7148 broad.mit.edu 37 6 32037995 32037995 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32037995G>A ENST00000375244.3 - 14 5388 c.5187C>T c.(5185-5187)acC>acT p.T1729T TNXB_ENST00000375247.2_Silent_p.T1729T P22105 TENX_HUMAN tenascin XB 1811 Fibronectin type-III 9. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CATCCAGAGGGGTGACAGTGA 0.632000 44 129 0 0 0.003610 0 0 PLXDC1 57125 broad.mit.edu 37 17 37243946 37243946 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:37243946C>T ENST00000315392.4 - 8 1032 c.821G>A c.(820-822)cGa>cAa p.R274Q PLXDC1_ENST00000444911.2_Missense_Mutation_p.R234Q|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_Missense_Mutation_p.R201Q|PLXDC1_ENST00000394316.2_Missense_Mutation_p.R274Q NM_020405.4 NP_065138.2 Q8IUK5 PXDC1_HUMAN plexin domain containing 1 274 angiogenesis cytoplasm|extracellular region|integral to membrane|tight junction kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 GATGCTCCTTCGCCGAGATTC 0.572000 11 22 0 0 0.000978 0 0 CREBBP 1387 broad.mit.edu 37 16 3900838 3900838 + Silent SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3900838T>A ENST00000262367.5 - 2 1067 c.258A>T c.(256-258)atA>atT p.I86I CREBBP_ENST00000382070.3_Silent_p.I86I NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 86 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCACATTTCCTATTCCTGGGT 0.562000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 17 37 0 0 0.006122 0 0 PBRM1 55193 broad.mit.edu 37 3 52643747 52643747 + Nonsense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:52643747T>A ENST00000356770.4 - 15 2055 c.2053A>T c.(2053-2055)Aag>Tag p.K685* PBRM1_ENST00000409114.3_Nonsense_Mutation_p.K732*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.K717*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.K717*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.K717*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.K732*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.K717*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.K717* Q86U86 PB1_HUMAN polybromo 1 717 Bromo 5. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCTTGGTACTTGTTGGCCATC 0.398000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 22 46 0 0 0.001882 0 0 TENM1 10178 broad.mit.edu 37 X 123663718 123663718 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:123663718C>T ENST00000422452.2 - 16 2830 c.2767G>A c.(2767-2769)Gga>Aga p.G923R TENM1_ENST00000371130.3_Missense_Mutation_p.G923R NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ACATACCTTCCATCTTGCCGG 0.483000 26 20 0 0 0.009535 0 0 TRPM2 7226 broad.mit.edu 37 21 45825123 45825123 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:45825123C>T ENST00000397928.1 + 17 3082 c.2637C>T c.(2635-2637)ttC>ttT p.F879F TRPM2_ENST00000300482.5_Silent_p.F879F|TRPM2_ENST00000397932.2_Silent_p.F879F|TRPM2_ENST00000300481.9_Silent_p.F859F|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 879 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 TCTTGCTCTTCGTGGCAGGGC 0.622000 15 36 0 0 0.006122 0 0 COL5A1 1289 broad.mit.edu 37 9 137708903 137708903 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:137708903C>T ENST00000371817.3 + 53 4568 c.4154C>T c.(4153-4155)cCa>cTa p.P1385L NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1385 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GAACCAGGTCCATCGGGGCCT 0.542000 12 32 0 0 0.001368 0 0 MDGA2 161357 broad.mit.edu 37 14 47566138 47566138 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:47566138C>T ENST00000426342.1 - 6 966 c.220G>A c.(220-222)Gat>Aat p.D74N MDGA2_ENST00000439988.2_Missense_Mutation_p.D303N|MDGA2_ENST00000399232.2_Missense_Mutation_p.D372N|MDGA2_ENST00000357362.3_Missense_Mutation_p.D74N NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 303 Ig-like 1. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 CCAGCATCATCTGAGGTGATG 0.458000 17 43 0 0 0.008871 0 0 FAM83B 222584 broad.mit.edu 37 6 54806047 54806047 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54806047G>A ENST00000306858.7 + 5 2394 c.2278G>A c.(2278-2280)Gaa>Aaa p.E760K NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 760 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TTCAAAGAAGGAAGTTAAGGG 0.368000 11 49 0 0 0.008291 0 0 ZNF831 128611 broad.mit.edu 37 20 57768850 57768850 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:57768850C>T ENST00000371030.2 + 1 2776 c.2776C>T c.(2776-2778)Cct>Tct p.P926S NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 926 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ACCTCAGGCTCCTAGAGTGCT 0.642000 10 26 0 0 0.008291 0 0 ADCY8 114 broad.mit.edu 37 8 131896923 131896923 + Missense_Mutation SNP C C T rs147685814 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:131896923C>T ENST00000286355.5 - 8 4088 c.1996G>A c.(1996-1998)Gaa>Aaa p.E666K ADCY8_ENST00000377928.3_Missense_Mutation_p.E666K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 666 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.E666K(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TTGTTAATTTCCTCAGGCCCA 0.438000 HNSCC(32;0.087) 27 63 0 0 0.004656 0 0 PDP2 57546 broad.mit.edu 37 16 66919126 66919126 + Missense_Mutation SNP C C G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:66919126C>G ENST00000311765.2 + 2 1273 c.939C>G c.(937-939)aaC>aaG p.N313K PDP2_ENST00000568720.1_Intron NM_020786.2 NP_065837.1 Q9P2J9 PDP2_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 2 313 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) ATGCCTGGAACCAGGCCGAGC 0.592000 49 30 0 0 0.003610 0 0 RCN3 57333 broad.mit.edu 37 19 50045922 50045922 + Missense_Mutation SNP T T G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:50045922T>G ENST00000270645.3 + 6 1239 c.792T>G c.(790-792)agT>agG p.S264R NM_020650.2 NP_065701.2 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 264 EF-hand 5. endoplasmic reticulum lumen calcium ion binding|protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) TGGATGGGAGTGAGGTGGGCC 0.677000 3 9 0 0 0.004672 0 0 PLCXD3 345557 broad.mit.edu 37 5 41381969 41381969 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41381969G>A ENST00000377801.3 - 2 845 c.771C>T c.(769-771)gtC>gtT p.V257V PLCXD3_ENST00000328457.3_Silent_p.V257V Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 257 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 CCACCCCTTTGACCACAGTGC 0.418000 20 57 0 0 0.003330 0 0 CPAMD8 27151 broad.mit.edu 37 19 17013605 17013605 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:17013605C>T ENST00000443236.1 - 35 4711 c.4680G>A c.(4678-4680)caG>caA p.Q1560Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1513 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 CCTCAGGCTCCTGGAGGCTTA 0.657000 37 70 0 0 0.006230 0 0 OR4A5 81318 broad.mit.edu 37 11 51411976 51411976 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:51411976G>A ENST00000319760.6 - 1 472 c.420C>T c.(418-420)ttC>ttT p.F140F NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) CCAACAGAAGGAAGCAAACCT 0.473000 13 21 0 0 0.001855 0 0 NEDD4L 23327 broad.mit.edu 37 18 55992285 55992285 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:55992285C>T ENST00000456986.1 + 9 808 c.208C>T c.(208-210)Cct>Tct p.P70S NEDD4L_ENST00000400345.3_Missense_Mutation_p.P191S|NEDD4L_ENST00000435432.2_Missense_Mutation_p.P70S|NEDD4L_ENST00000431212.2_Missense_Mutation_p.P70S|NEDD4L_ENST00000382850.4_Missense_Mutation_p.P191S|NEDD4L_ENST00000456173.2_Missense_Mutation_p.P70S|NEDD4L_ENST00000356462.6_Missense_Mutation_p.P191S|NEDD4L_ENST00000256832.7_Missense_Mutation_p.P70S|NEDD4L_ENST00000357895.5_Missense_Mutation_p.P183S|NEDD4L_ENST00000256830.9_Missense_Mutation_p.P191S|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.P183S NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 191 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 AGAGGAACTTCCTCCTCCTCC 0.498000 37 100 0 0 0.006999 0 0 PTPRD 5789 broad.mit.edu 37 9 8521541 8521541 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:8521541G>A ENST00000381196.4 - 17 1240 c.697C>T c.(697-699)Cgt>Tgt p.R233C PTPRD_ENST00000397606.3_Missense_Mutation_p.R223C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R233C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R230C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R220C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R233C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R230C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R233C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R233C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R223C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R220C NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 233 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGTGGGACACGGCGAACTGGA 0.448000 TSP Lung(15;0.13) 15 13 0 0 0.003163 0 0 SLC26A8 116369 broad.mit.edu 37 6 35967773 35967773 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:35967773G>A ENST00000490799.1 - 4 794 c.441C>T c.(439-441)tcC>tcT p.S147S SLC26A8_ENST00000394602.2_Silent_p.S147S|SLC26A8_ENST00000355574.2_Silent_p.S147S NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 147 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 ACTCACCAATGGACATTTGAT 0.398000 37 121 0 0 0.005524 0 0 LCE1A 353131 broad.mit.edu 37 1 152800123 152800123 + Missense_Mutation SNP G G T rs141081392 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152800123G>T ENST00000335123.2 + 1 175 c.175G>T c.(175-177)Ggc>Tgc p.G59C NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 59 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTCTGGGGGCGGCTGCAGCTC 0.667000 5 51 0.000157383 0.000160796 0.003080 1 0 EPHA8 2046 broad.mit.edu 37 1 22913029 22913029 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:22913029C>T ENST00000166244.3 + 4 952 c.880C>T c.(880-882)Cct>Tct p.P294S EPHA8_ENST00000538803.1_Missense_Mutation_p.P294S|EPHA8_ENST00000374644.4_Missense_Mutation_p.P294S NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 294 Cys-rich. 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) TGCCCGCTGCCCTCCCCACAG 0.687000 13 32 0 0 0.001368 0 0 LEPR 3953 broad.mit.edu 37 1 66102401 66102401 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:66102401C>T ENST00000349533.6 + 20 3386 c.3201C>T c.(3199-3201)ttC>ttT p.F1067F LEPR_ENST00000406510.3_Silent_p.F134F NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 1067 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AGGGAAATTTCCCTGAAGAAA 0.358000 24 63 0 0 0.002780 0 0 AC005609.1 0 broad.mit.edu 37 5 140242883 140242883 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140242883C>T ENST00000502505.1 - 1 341 c.93G>A c.(91-93)gcG>gcA p.A31A PCDHA14_ENST00000562220.1_RNA|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron ACCTGATCATCGCCATCTGCG 0.647000 8 26 0 0 0.006214 0 0 SAMD3 154075 broad.mit.edu 37 6 130536361 130536361 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:130536361C>T ENST00000532763.1 - 2 187 c.58G>A c.(58-60)Gag>Aag p.E20K SAMD3_ENST00000439090.2_Missense_Mutation_p.E20K|SAMD3_ENST00000368134.2_Missense_Mutation_p.E20K|SAMD3_ENST00000324172.6_Missense_Mutation_p.E20K|SAMD3_ENST00000437477.2_Missense_Mutation_p.E20K|SAMD3_ENST00000457563.2_Missense_Mutation_p.E44K|SAMD3_ENST00000533296.1_5'UTR Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 20 SAM. breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TGAACTAGCTCTCCTAAATTT 0.393000 7 25 0 0 0.004482 0 0 PLCL2 23228 broad.mit.edu 37 3 17052594 17052594 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:17052594G>A ENST00000418129.2 + 2 1843 c.1378G>A c.(1378-1380)Gaa>Aaa p.E460K PLCL2_ENST00000396755.2_Missense_Mutation_p.E460K|PLCL2_ENST00000432376.1_Missense_Mutation_p.E460K NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 586 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGTTACTGACGAAGATGAAGG 0.423000 9 23 0 0 0.006214 0 0 CTNND2 1501 broad.mit.edu 37 5 11022919 11022919 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:11022919G>A ENST00000304623.8 - 17 3150 c.2961C>T c.(2959-2961)atC>atT p.I987I CTNND2_ENST00000359640.2_Silent_p.I929I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Silent_p.I554I|CTNND2_ENST00000511377.1_Silent_p.I896I|CTNND2_ENST00000503622.1_Silent_p.I650I NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 987 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.I987I(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCAACTTCTCGATGCCACCGG 0.498000 13 36 0 0 0.002450 0 0 NBEA 26960 broad.mit.edu 37 13 35733774 35733774 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:35733774G>A ENST00000540320.1 + 22 4000 c.3466G>A c.(3466-3468)Gaa>Aaa p.E1156K NBEA_ENST00000310336.4_Missense_Mutation_p.E1156K|NBEA_ENST00000379939.2_Missense_Mutation_p.E1156K|NBEA_ENST00000400445.3_Missense_Mutation_p.E1156K Q8NFP9 NBEA_HUMAN neurobeachin 1156 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CAAACAGGAGGAAAAACTACT 0.358000 3 10 0 0 0.004672 0 0 NLRP7 199713 broad.mit.edu 37 19 55450858 55450858 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55450858G>A ENST00000588756.1 - 6 1815 c.1329C>T c.(1327-1329)tcC>tcT p.S443S NLRP7_ENST00000448121.2_Silent_p.S443S|NLRP7_ENST00000590030.1_Silent_p.S443S|NLRP7_ENST00000328092.5_Silent_p.S443S|NLRP7_ENST00000340844.2_Silent_p.S443S|NLRP7_ENST00000446217.1_Silent_p.S471S|NLRP7_ENST00000592784.1_Silent_p.S443S Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 443 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GACGGAGGTCGGACTCCTGCA 0.642000 9 33 0 0 0.006214 0 0 PPFIA2 8499 broad.mit.edu 37 12 81777804 81777804 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:81777804C>T ENST00000550584.2 - 8 1277 c.982G>A c.(982-984)Gag>Aag p.E328K PPFIA2_ENST00000549396.1_Missense_Mutation_p.E328K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E175K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E310K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E229K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E328K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E254K|PPFIA2_ENST00000545296.2_5'UTR|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E310K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E328K|RP11-315E17.1_ENST00000546936.1_RNA NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 254 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 TCACTTACCTCCCTAATGTCC 0.408000 3 19 0 0 0.004672 0 0 GGT7 2686 broad.mit.edu 37 20 33450629 33450629 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:33450629G>A ENST00000336431.5 - 3 589 c.545C>T c.(544-546)tCt>tTt p.S182F NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 182 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 GCCCAGGCCAGAACTGTGTGG 0.592000 22 39 0 0 0.002299 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288818 7288818 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:7288818C>T ENST00000537408.1 + 5 1333 c.795C>T c.(793-795)atC>atT p.I265I CLSTN3_ENST00000266546.6_Silent_p.I253I Q9BQT9 CSTN3_HUMAN calsyntenin 3 253 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACAAAAGGATCGAATATGCAC 0.552000 20 33 0 0 0.010504 0 0 ZNF174 7727 broad.mit.edu 37 16 3454464 3454464 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3454464G>A ENST00000268655.4 + 2 1026 c.441G>A c.(439-441)gaG>gaA p.E147E LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Silent_p.E147E|ZNF174_ENST00000344823.5_Silent_p.E147E|ZNF174_ENST00000571936.1_Silent_p.E147E|ZNF174_ENST00000572544.1_Silent_p.E147E NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 147 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 TGCTCTTGGAGAAAACTGGAT 0.527000 35 94 0 0 0.006999 0 0 ABCB5 340273 broad.mit.edu 37 7 20778753 20778753 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:20778753G>A ENST00000404938.2 + 24 3667 c.3015G>A c.(3013-3015)ggG>ggA p.G1005G ABCB5_ENST00000258738.6_Silent_p.G560G NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 560 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTCAAGAAGGGAAAAAGCCAG 0.478000 5 6 0 0 0.000602 0 0 ZNF598 90850 broad.mit.edu 37 16 2052210 2052210 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:2052210C>T ENST00000563630.1 - 5 969 c.727G>A c.(727-729)Gag>Aag p.E243K ZNF598_ENST00000431526.1_Missense_Mutation_p.E298K|ZNF598_ENST00000562103.1_Missense_Mutation_p.E243K Q86UK7 ZN598_HUMAN zinc finger protein 598 298 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 TGCTCACCCTCGTTCCGGCGC 0.692000 4 8 0 0 0.009096 0 0 MINOS1 440574 broad.mit.edu 37 1 19949983 19949983 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:19949983T>C ENST00000322753.6 + 3 184 c.128T>C c.(127-129)tTa>tCa p.L43S MINOS1-NBL1_ENST00000602662.1_Intron|MINOS1_ENST00000486890.1_3'UTR NM_001032363.3|NM_001204082.1|NM_001204083.1 NP_001027535.1|NP_001191011.1|NP_001191012.1 Q5TGZ0 CA151_HUMAN mitochondrial inner membrane organizing system 1 43 integral to membrane|mitochondrion ATGTGGCCATTAGCCTTCGGT 0.393000 33 77 0 0 0.003271 0 0 RMDN2 151393 broad.mit.edu 37 2 38178549 38178549 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:38178549T>C ENST00000407257.1 + 2 338 c.191T>C c.(190-192)tTa>tCa p.L64S RMDN2_ENST00000234195.3_Missense_Mutation_p.L64S|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Missense_Mutation_p.L64S|RMDN2_ENST00000354545.2_Intron regulator of microtubule dynamics 2 AGTAGAAGGTTATTATCTGTA 0.358000 14 33 0 0 0.002450 0 0 ERAP2 64167 broad.mit.edu 37 5 96224936 96224936 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:96224936T>C ENST00000437043.3 + 5 1608 c.897T>C c.(895-897)gcT>gcC p.A299A ERAP2_ENST00000379904.4_Silent_p.A254A|ERAP2_ENST00000510309.1_Silent_p.A299A|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 299 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) CACATTATGCTTTGCAGGCAT 0.393000 13 37 0 0 0.002450 0 0 GFRAL 389400 broad.mit.edu 37 6 55214904 55214904 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:55214904G>A ENST00000340465.2 + 4 417 c.331G>A c.(331-333)Gat>Aat p.D111N NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 111 integral to membrane receptor activity NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) CGTGAAAGAGGATAAATTCAA 0.294000 7 23 0 0 0.004482 0 0 STAB2 55576 broad.mit.edu 37 12 104048356 104048356 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:104048356C>T ENST00000388887.2 + 13 1635 c.1431C>T c.(1429-1431)ctC>ctT p.L477L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 477 FAS1 1. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AGCTTAAACTCCATGGAGGCA 0.403000 6 24 0 0 0.001984 0 0 DBH 1621 broad.mit.edu 37 9 136508610 136508610 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:136508610G>A ENST00000393056.2 + 4 832 c.820G>A c.(820-822)Gac>Aac p.D274N NM_000787.3 NP_000778.3 P09172 DOPO_HUMAN dopamine beta-hydroxylase (dopamine beta-monooxygenase) 274 hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 36 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CCCCGAGATGGACAGCGTCCC 0.652000 22 50 0 0 0.002780 0 0 TENM2 57451 broad.mit.edu 37 5 167642239 167642239 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:167642239G>A ENST00000519204.1 + 20 3795 c.3677G>A c.(3676-3678)gGa>gAa p.G1226E TENM2_ENST00000520394.1_Missense_Mutation_p.G1108E|TENM2_ENST00000518659.1_Missense_Mutation_p.G1347E|TENM2_ENST00000545108.1_Missense_Mutation_p.G1346E|TENM2_ENST00000403607.2_Missense_Mutation_p.G1171E teneurin transmembrane protein 2 TGCGGGGATGGAGGGAAGGCC 0.557000 28 61 0 0 0.002096 0 0 CACNA1S 779 broad.mit.edu 37 1 201019617 201019617 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:201019617T>C ENST00000362061.3 - 34 4367 c.4141A>G c.(4141-4143)Atg>Gtg p.M1381V CACNA1S_ENST00000367338.3_Missense_Mutation_p.M1362V NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1381 Dihydropyridine binding (By similarity).|Phenylalkylamine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAATTGTCCATGATGACAGCC 0.552000 15 33 0 0 0.003163 0 0 EPPK1 83481 broad.mit.edu 37 8 144940269 144940269 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:144940269C>T ENST00000525985.1 - 2 7224 c.7153G>A c.(7153-7155)Ggc>Agc p.G2385S P58107 EPIPL_HUMAN epiplakin 1 2385 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TCGAAGAAGCCCTTGGTGTCG 0.647000 11 351 0 0 0.000978 0 0 GALNT15 117248 broad.mit.edu 37 3 16268951 16268951 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:16268951G>A ENST00000339732.5 + 10 2367 c.1864G>A c.(1864-1866)Gga>Aga p.G622R GALNT15_ENST00000437509.1_Intron NM_054110.4 NP_473451.3 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15 TCCGTGTGATGGAAAAGCCCG 0.433000 22 40 0 0 0.003954 0 0 COL4A5 1287 broad.mit.edu 37 X 107834830 107834830 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:107834830G>A ENST00000328300.6 + 21 1623 c.1379G>A c.(1378-1380)gGa>gAa p.G460E COL4A5_ENST00000361603.2_Missense_Mutation_p.G460E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 460 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GGCCCCCCAGGATCTCCAGGT 0.398000 Alport syndrome with Diffuse Leiomyomatosis 31 15 0 0 0.004289 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378226 31378226 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:31378226G>A ENST00000297142.3 - 2 979 c.657C>T c.(655-657)ccC>ccT p.P219P NM_022728.2 NP_073565.2 Q96NK8 NDF6_HUMAN neuronal differentiation 6 219 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CATGCCCTGGGGGAGTGGTGA 0.527000 13 63 0 0 0.002450 0 0 DPP4 1803 broad.mit.edu 37 2 162875264 162875264 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:162875264C>T ENST00000360534.3 - 16 1955 c.1395G>A c.(1393-1395)gcG>gcA p.A465A NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 465 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity p.A465A(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) GATAATACTTCGCCTCTTTAC 0.473000 15 49 0 0 0.003163 0 0 PCDH1 5097 broad.mit.edu 37 5 141243015 141243015 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:141243015C>T ENST00000287008.3 - 3 3028 c.2881G>A c.(2881-2883)Ggc>Agc p.G961S PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.G961S|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.G949S|PCDH1_ENST00000536585.1_Missense_Mutation_p.G939S NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 961 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) TCAGGGCTGCCTGGTGGGTAG 0.637000 7 16 0 0 0.003080 0 0 WDR12 55759 broad.mit.edu 37 2 203762097 203762097 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:203762097G>A ENST00000261015.3 - 5 1129 c.380C>T c.(379-381)tCc>tTc p.S127F NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 127 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1) 13 TCCTTCCAAGGACCAGATCCG 0.378000 108 252 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179621414 179621414 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179621414C>T ENST00000589042.1 - 46 11013 c.10789G>A c.(10789-10791)Gaa>Aaa p.E3597K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E3426K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000591111.1_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3283 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) GACTTAATTTCCTTTTGAGAT 0.408000 16 33 0 0 0.003163 0 0 RAB4A 5867 broad.mit.edu 37 1 229431640 229431640 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:229431640C>T ENST00000366690.4 + 4 481 c.273C>T c.(271-273)ctC>ctT p.L91L RAB4A_ENST00000473894.1_3'UTR NM_004578.2 NP_004569.2 P20338 RAB4A_HUMAN RAB4A, member RAS oncogene family 86 GDP binding|GTP binding|GTPase activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.178) GGGCTCTCCTCGTCTATGATA 0.552000 14 26 0 0 0.003163 0 0 CDC40 51362 broad.mit.edu 37 6 110551240 110551240 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:110551240A>T ENST00000368932.1 + 16 1747 c.1646A>T c.(1645-1647)cAt>cTt p.H549L CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron|CDC40_ENST00000307731.1_Missense_Mutation_p.H549L|CDC40_ENST00000445340.2_Intron O60508 PRP17_HUMAN cell division cycle 40 549 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) TTTAAAGCTCATGATAAAGTG 0.373000 12 36 0 0 0.001368 0 0 INPPL1 3636 broad.mit.edu 37 11 71944756 71944756 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71944756T>C ENST00000298229.2 + 19 2384 c.2180T>C c.(2179-2181)gTt>gCt p.V727A INPPL1_ENST00000538751.1_Missense_Mutation_p.V485A|INPPL1_ENST00000541756.1_Missense_Mutation_p.V485A NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 727 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 ACATTTGAGGTTGGAGTTACC 0.542000 18 60 0 0 0.002780 0 0 ABCA9 10350 broad.mit.edu 37 17 67016591 67016591 + Silent SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:67016591G>C ENST00000340001.4 - 19 2749 c.2538C>G c.(2536-2538)gtC>gtG p.V846V ABCA9_ENST00000453985.2_Silent_p.V846V|ABCA9_ENST00000370732.2_Silent_p.V846V NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 846 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CTATTGCACAGACCTGCTGCC 0.423000 38 34 0 0 0.002522 0 0 ZNF230 7773 broad.mit.edu 37 19 44514741 44514741 + Missense_Mutation SNP C C T rs112504832 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:44514741C>T ENST00000429154.2 + 5 778 c.550C>T c.(550-552)Cgt>Tgt p.R184C NM_006300.3 NP_006291.2 Q9UIE0 ZN230_HUMAN zinc finger protein 230 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2) 22 Prostate(69;0.0352) CTCAGCTCTTCGTATTCACCA 0.448000 20 44 0 0 0.010504 0 0 NCKAP1 10787 broad.mit.edu 37 2 183859598 183859598 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:183859598G>A ENST00000360982.2 - 9 1535 c.777C>T c.(775-777)ctC>ctT p.L259L NCKAP1_ENST00000361354.3_Silent_p.L253L NM_205842.1 NP_995314.1 Q9Y2A7 NCKP1_HUMAN NCK-associated protein 1 253 apoptosis|central nervous system development integral to membrane|lamellipodium membrane protein binding breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209) CATCCAAAGAGAGGTATTCAC 0.343000 24 69 0 0 0.003330 0 0 ATRN 8455 broad.mit.edu 37 20 3559287 3559287 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:3559287T>C ENST00000262919.5 + 15 2480 c.2412T>C c.(2410-2412)acT>acC p.T804T ATRN_ENST00000446916.2_Silent_p.T804T NM_139321.2 NP_647537.1 O75882 ATRN_HUMAN attractin 804 C-type lectin. inflammatory response extracellular space|integral to plasma membrane receptor activity|sugar binding breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 59 AAATTACTACTGCCAAGGAGA 0.363000 17 38 0 0 0.010504 0 0 TMEM59L 25789 broad.mit.edu 37 19 18726820 18726820 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:18726820C>T ENST00000600490.1 + 5 629 c.444C>T c.(442-444)tcC>tcT p.S148S TMEM59L_ENST00000262817.3_Silent_p.S148S Q9UK28 TM59L_HUMAN transmembrane protein 59-like 148 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 GGGCCCTCTCCCTCTTGGACT 0.507000 24 66 0 0 0.003330 0 0 TUBG1 7283 broad.mit.edu 37 17 40766579 40766579 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:40766579C>T ENST00000251413.3 + 10 1124 c.1062C>T c.(1060-1062)gcC>gcT p.A354A NM_001070.4 NP_001061.2 P23258 TBG1_HUMAN tubulin, gamma 1 354 G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.129) GGGGCCCCGCCAGCATCCAGG 0.647000 25 35 0 0 0.008361 0 0 DIDO1 11083 broad.mit.edu 37 20 61511906 61511906 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:61511906C>T ENST00000266070.4 - 16 5727 c.5402G>A c.(5401-5403)gGa>gAa p.G1801E DIDO1_ENST00000395343.1_Missense_Mutation_p.G1801E NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1801 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) CTTCTGGGCTCCGAATCTGGC 0.622000 39 92 0 0 0.008740 0 0 CACNA1A 773 broad.mit.edu 37 19 13418632 13418632 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:13418632G>A ENST00000360228.5 - 15 1949 c.1950C>T c.(1948-1950)ttC>ttT p.F650F CACNA1A_ENST00000573710.2_Silent_p.F651F NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 651 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAAAAGTATCGAAGTTGGTGG 0.557000 23 54 0 0 0.003954 0 0 TRUB2 26995 broad.mit.edu 37 9 131073167 131073167 + Splice_Site SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:131073167T>A ENST00000372890.4 - 7 1002 c.670_splice c.e7+1 p.L223_splice TRUB2_ENST00000546104.1_Splice_Site_p.L167_splice|TRUB2_ENST00000460320.1_5'UTR NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 223 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 CCAACCTACCTAAGAGGAATT 0.552000 26 52 0 0 0.005443 0 0 SKAP1 8631 broad.mit.edu 37 17 46423357 46423357 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:46423357C>T ENST00000336915.6 - 4 259 c.190G>A c.(190-192)Gga>Aga p.G64R SKAP1_ENST00000584924.1_Missense_Mutation_p.G64R NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 64 positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 CTGTCCTGTCCAATGTCTCCC 0.428000 9 17 0 0 0.008291 0 0 OTOF 9381 broad.mit.edu 37 2 26739411 26739411 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:26739411C>T ENST00000272371.2 - 5 510 c.384G>A c.(382-384)tgG>tgA p.W128* OTOF_ENST00000403946.3_Nonsense_Mutation_p.W128* NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 128 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCATCGTCCCAGGAGCCCA 0.642000 29 54 0 0 0.009535 0 0 S100A2 6273 broad.mit.edu 37 1 153533975 153533975 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153533975G>A ENST00000368708.3 - 3 606 c.234C>T c.(232-234)ttC>ttT p.F78F S100A2_ENST00000368707.4_3'UTR|S100A2_ENST00000368709.1_Silent_p.F78F|S100A2_ENST00000368710.1_Silent_p.F78F|S100A2_ENST00000497140.1_Silent_p.F45F|S100A2_ENST00000487430.2_Silent_p.F78F NM_005978.3 NP_005969.1 P29034 S10A2_HUMAN S100 calcium binding protein A2 79 EF-hand 2. endothelial cell migration calcium ion binding endometrium(1)|large_intestine(2)|lung(1)|ovary(1) 5 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGAGTGCCAGGAAAACAGCAT 0.542000 23 100 0 0 0.003954 0 0 ARAP3 64411 broad.mit.edu 37 5 141052692 141052692 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:141052692G>A ENST00000239440.4 - 7 1046 c.981C>T c.(979-981)ttC>ttT p.F327F ARAP3_ENST00000508305.1_Silent_p.F249F|ARAP3_ENST00000513878.1_5'UTR NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 327 PH 1. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 CACCCTTAGGGAAGGGGTCCT 0.552000 5 30 0 0 0.003080 0 0 CACNA1S 779 broad.mit.edu 37 1 201047112 201047112 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:201047112C>T ENST00000362061.3 - 11 1740 c.1514G>A c.(1513-1515)tGt>tAt p.C505Y CACNA1S_ENST00000367338.3_Missense_Mutation_p.C505Y NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 505 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GATACCGCTACACACCACGAA 0.577000 25 36 0 0 0.005443 0 0 STYK1 55359 broad.mit.edu 37 12 10783863 10783863 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:10783863C>T ENST00000075503.3 - 5 752 c.232G>A c.(232-234)Gga>Aga p.G78R NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 78 integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CCTCCATGTCCTGCTTCCCAG 0.562000 HNSCC(73;0.22) 24 49 0 0 0.002299 0 0 OR52N4 390072 broad.mit.edu 37 11 5776591 5776591 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5776591G>A ENST00000317254.3 + 1 669 c.621G>A c.(619-621)ctG>ctA p.L207L TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTGCCCTCCTGATTTGGGGCT 0.488000 27 49 0 0 0.005443 0 0 SCN10A 6336 broad.mit.edu 37 3 38798279 38798279 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38798279G>A ENST00000449082.2 - 9 1175 c.1176C>T c.(1174-1176)atC>atT p.I392I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 392 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTACAGCCAAGATCAAGTTGA 0.478000 19 69 0 0 0.007413 0 0 LPA 4018 broad.mit.edu 37 6 161006198 161006198 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:161006198C>T ENST00000447678.1 - 27 4289 c.4169G>A c.(4168-4170)cGa>cAa p.R1390Q LPA_ENST00000316300.5_Missense_Mutation_p.R1390Q NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3898 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TCCATCACCTCGGTAGCAGTC 0.453000 39 96 0 0 0.008740 0 0 ZNF214 7761 broad.mit.edu 37 11 7021860 7021860 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:7021860G>A ENST00000278314.4 - 3 1369 c.1054C>T c.(1054-1056)Cac>Tac p.H352Y ZNF214_ENST00000536068.1_Missense_Mutation_p.H352Y NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081) TCTCCTATGTGAAGTCTCTGG 0.368000 6 33 0 0 0.001168 0 0 ZNF300 91975 broad.mit.edu 37 5 150276037 150276037 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:150276037G>A ENST00000446148.2 - 7 1239 c.812C>T c.(811-813)tCc>tTc p.S271F ZNF300_ENST00000394226.2_Missense_Mutation_p.S255F|ZNF300_ENST00000418587.2_Missense_Mutation_p.S219F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.S255F NM_001172831.1 NP_001166302.1 Q96RE9 ZN300_HUMAN zinc finger protein 300 255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2) 27 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTGAATAAGGGATTGTGTATT 0.353000 20 48 0 0 0.007413 0 0 OR6C3 254786 broad.mit.edu 37 12 55726161 55726161 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55726161C>T ENST00000379667.1 + 1 677 c.677C>T c.(676-678)cCg>cTg p.P226L NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TTGAGAATCCCGTCTGCCAGT 0.353000 13 28 0 0 0.001855 0 0 TMIGD1 388364 broad.mit.edu 37 17 28656313 28656313 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:28656313C>T ENST00000328886.4 - 3 389 c.317G>A c.(316-318)gGg>gAg p.G106E TMIGD1_ENST00000538566.2_Missense_Mutation_p.G106E NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 106 Ig-like C2-type 1. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 CTGATCCCTCCCCAGCCTGCA 0.458000 13 37 0 0 0.002450 0 0 CLDN1 9076 broad.mit.edu 37 3 190026182 190026182 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:190026182G>A ENST00000295522.3 - 4 788 c.520C>T c.(520-522)Ctc>Ttc p.L174F NM_021101.4 NP_066924.1 O95832 CLD1_HUMAN claudin 1 174 calcium-independent cell-cell adhesion|interspecies interaction between organisms integral to plasma membrane|tight junction identical protein binding|structural molecule activity lung(9) 9 all_cancers(143;2.95e-10)|Ovarian(172;0.0512) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.015) AGAAGGCAGAGAGAAGCAGCA 0.493000 9 38 0 0 0.006214 0 0 APBB2 323 broad.mit.edu 37 4 40936484 40936484 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:40936484G>A ENST00000295974.8 - 10 1869 c.1240C>T c.(1240-1242)Cca>Tca p.P414S APBB2_ENST00000506352.1_Missense_Mutation_p.P393S|APBB2_ENST00000508593.1_Missense_Mutation_p.P415S|APBB2_ENST00000513140.1_Missense_Mutation_p.P393S NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 414 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 TTGGCTTCTGGGTCACTGTTG 0.383000 25 79 0 0 0.009535 0 0 SNHG14 104472715 broad.mit.edu 37 15 25425679 25425679 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:25425679G>A ENST00000441592.2 + 0 575 SNORD115-6_ENST00000363942.1_RNA GTTCTGAAGAGAGGTGATGAC 0.502000 58 177 0 0 0.003610 0 0 PI4KA 5297 broad.mit.edu 37 22 21088121 21088121 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:21088121G>A ENST00000255882.6 - 35 4149 c.4063C>T c.(4063-4065)Ctg>Ttg p.L1355L PI4KA_ENST00000572273.1_Silent_p.L1297L|PI4KA_ENST00000414196.3_Silent_p.L107L NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1297 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) GACAGCCCCAGGGTCAGCAGC 0.587000 23 54 0 0 0.003954 0 0 SNHG14 104472715 broad.mit.edu 37 15 25438546 25438546 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:25438546G>A ENST00000424208.1 + 0 1405 SNHG14_ENST00000363358.1_RNA|SNHG14_ENST00000414175.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 TTACGCTGAGGCCCAGTCTAG 0.502000 59 133 0 0 0.003610 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60241098 60241098 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:60241098G>A ENST00000296597.5 + 1 143 c.16G>A c.(16-18)Gat>Aat p.D6N NDUFAF2_ENST00000511107.1_Missense_Mutation_p.D6N NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 6 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity p.D6Y(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) TTGGTCTCAGGATTTGTTCCG 0.607000 6 11 0 0 0.001168 0 0 KCNH2 3757 broad.mit.edu 37 7 150648080 150648080 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150648080G>A ENST00000392968.2 - 6 2906 c.1786C>T c.(1786-1788)Ccc>Tcc p.P596S KCNH2_ENST00000330883.4_Missense_Mutation_p.P352S|KCNH2_ENST00000430723.3_Missense_Mutation_p.P692S|KCNH2_ENST00000262186.5_Missense_Mutation_p.P692S Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 692 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) TGGCGCAGGGGATTGGGGATC 0.647000 18 29 0 0 0.007413 0 0 ZNF595 152687 broad.mit.edu 37 4 59433 59433 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:59433G>A ENST00000509152.2 + 2 299 c.114G>A c.(112-114)agG>agA p.R38R ZNF595_ENST00000526473.2_Silent_p.R38R|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) AGAACTACAGGAACCTGGTCT 0.438000 14 360 0 0 0.006122 0 0 FAM83B 222584 broad.mit.edu 37 6 54805265 54805265 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54805265C>T ENST00000306858.7 + 5 1612 c.1496C>T c.(1495-1497)tCc>tTc p.S499F NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 499 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGAATTGAATCCTACTTAAAT 0.403000 13 44 0 0 0.001855 0 0 VNN2 8875 broad.mit.edu 37 6 133070846 133070846 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:133070846A>G ENST00000326499.6 - 6 1483 c.1359T>C c.(1357-1359)ccT>ccC p.P453P VNN2_ENST00000525289.1_Silent_p.P232P|VNN2_ENST00000525270.1_Silent_p.P400P NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 453 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) CAAATTTTCCAGGTGACAGAT 0.363000 4 13 0 0 0.009096 0 0 FILIP1 27145 broad.mit.edu 37 6 76024867 76024867 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:76024867C>T ENST00000393004.2 - 5 902 c.681G>A c.(679-681)aaG>aaA p.K227K FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Silent_p.K128K|FILIP1_ENST00000237172.7_Silent_p.K227K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 227 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TAGCATTTTCCTTTTCTTTGC 0.343000 12 52 0 0 0.000978 0 0 ZNF451 26036 broad.mit.edu 37 6 57017092 57017092 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:57017092C>T ENST00000370706.4 + 12 3070 c.2826C>T c.(2824-2826)ttC>ttT p.F942F RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.F942F|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.F894F NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 942 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) GATGCTTCTTCCTTCATCCTC 0.368000 7 51 0 0 0.003080 0 0 LAMA1 284217 broad.mit.edu 37 18 7024446 7024446 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:7024446G>A ENST00000389658.3 - 18 2515 c.2422C>T c.(2422-2424)Ctc>Ttc p.L808F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 808 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCATCATTGAGGTGGCAGGTG 0.438000 4 17 0 0 0.000602 0 0 PADI3 51702 broad.mit.edu 37 1 17601191 17601191 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:17601191C>T ENST00000375460.3 + 11 1257 c.1217C>T c.(1216-1218)tCc>tTc p.S406F NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 406 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GGCCTGGACTCCTTTGGGAAC 0.607000 OREG0013148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 30 0 0 0.000978 0 0 BPIFA3 128861 broad.mit.edu 37 20 31805433 31805433 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:31805433C>T ENST00000375454.3 + 1 301 c.91C>T c.(91-93)Caa>Taa p.Q31* BPIFA3_ENST00000490499.1_3'UTR|BPIFA3_ENST00000375452.3_Nonsense_Mutation_p.Q31* NM_178466.3 NP_848561.2 Q9BQP9 SPLC3_HUMAN BPI fold containing family A, member 3 31 extracellular region lipid binding TGGCCTGGCCCAAGCCCACAG 0.622000 9 27 0 0 0.006214 0 0 OR51M1 390059 broad.mit.edu 37 11 5411136 5411136 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5411136C>T ENST00000328611.3 + 1 530 c.508C>T c.(508-510)Cct>Tct p.P170S HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004756.2 NP_001004756.2 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, member 1 170 integral to membrane olfactory receptor activity p.I169>?(1) NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCACTATCCCTATTGTCCT 0.547000 49 124 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9088781 9088781 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9088781T>C ENST00000397910.4 - 1 3237 c.3034A>G c.(3034-3036)Act>Gct p.T1012A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1012 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGATAGAAGTTGCTTCCATG 0.478000 41 91 0 0 0.008740 0 0 TTN 7273 broad.mit.edu 37 2 179640203 179640203 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179640203C>T ENST00000589042.1 - 28 6612 c.6388G>A c.(6388-6390)Gaa>Aaa p.E2130K TTN_ENST00000342992.6_Missense_Mutation_p.E2130K|TTN_ENST00000359218.5_Missense_Mutation_p.E2084K|TTN_ENST00000460472.2_Missense_Mutation_p.E2084K|TTN_ENST00000360870.5_Missense_Mutation_p.E2130K|TTN_ENST00000342175.6_Missense_Mutation_p.E2084K|TTN_ENST00000591111.1_Missense_Mutation_p.E2130K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1891 Ig-like 10. 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) ACATTGTCTTCGGGCCAGTAC 0.483000 10 26 0 0 0.000978 0 0 COL17A1 1308 broad.mit.edu 37 10 105815664 105815664 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:105815664C>A ENST00000353479.5 - 18 1853 c.1563G>T c.(1561-1563)aaG>aaT p.K521N COL17A1_ENST00000480127.1_5'UTR|COL17A1_ENST00000369733.3_Missense_Mutation_p.K521N NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 521 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGAGGCGGTCCTTTTCTATTC 0.592000 18 50 3.99206e-14 4.12194e-14 0.007413 1 0 PLCXD3 345557 broad.mit.edu 37 5 41382154 41382154 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41382154G>A ENST00000377801.3 - 2 660 c.586C>T c.(586-588)Cat>Tat p.H196Y PLCXD3_ENST00000328457.3_Missense_Mutation_p.H196Y Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 196 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 ACTGGACTATGGTAGAAGACC 0.498000 19 51 0 0 0.006122 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12855633 12855633 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12855633C>T ENST00000332296.7 + 4 1016 c.913C>T c.(913-915)Cta>Tta p.L305L PRAMEF1_ENST00000400814.3_Silent_p.L60L NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 305 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TTATGGCTACCTATTGGAAGA 0.473000 26 61 0 0 0.003755 0 0 HTR2A 3356 broad.mit.edu 37 13 47409312 47409312 + Missense_Mutation SNP C C G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:47409312C>G ENST00000378688.4 - 3 1207 c.1076G>C c.(1075-1077)gGg>gCg p.G359A HTR2A_ENST00000543956.1_Missense_Mutation_p.G275A|HTR2A_ENST00000542664.1_Missense_Mutation_p.G359A P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 359 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GAGCAGGGCCCCAATGACATC 0.473000 17 35 0 0 0.006122 0 0 FANCC 2176 broad.mit.edu 37 9 98009753 98009753 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:98009753A>G ENST00000289081.3 - 3 465 c.211T>C c.(211-213)Ttg>Ctg p.L71L FANCC_ENST00000375305.1_Silent_p.L71L NM_000136.2 NP_000127.2 Q00597 FANCC_HUMAN Fanconi anemia, complementation group C 71 protein complex assembly cytosol|nucleoplasm protein binding kidney(1)|skin(1)|upper_aerodigestive_tract(1) 3 Acute lymphoblastic leukemia(62;0.138) GCTTTTGCCAACAGTTGACCA 0.328000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 14 54 0 0 0.003163 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12941848 12941848 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12941848C>T ENST00000235349.5 - 3 772 c.702G>A c.(700-702)agG>agA p.R234R NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 234 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTGAAGATTCCTCATGTGGC 0.488000 96 202 0 0 0.003610 0 0 YARS2 51067 broad.mit.edu 37 12 32908665 32908665 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:32908665G>A ENST00000324868.8 - 1 171 c.144C>T c.(142-144)ttC>ttT p.F48F NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 48 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) AGAAGTCCTTGAACAGACCTC 0.577000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 84 0 0 0.006230 0 0 COL5A1 1289 broad.mit.edu 37 9 137687133 137687133 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:137687133G>A ENST00000371817.3 + 34 3185 c.2771G>A c.(2770-2772)cGg>cAg p.R924Q NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 924 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) AGAGGCCCCCGGGGCATCACT 0.632000 26 54 0 0 0.006320 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216442 20216442 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20216442C>T ENST00000331723.1 + 1 856 c.856C>T c.(856-858)Ctc>Ttc p.L286F NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GTTGAACCCCCTCATCTACAC 0.418000 17 40 0 0 0.004990 0 0 RIMS1 22999 broad.mit.edu 37 6 72967938 72967938 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:72967938G>A ENST00000264839.7 + 17 2881 c.2881G>A c.(2881-2883)Gat>Aat p.D961N RIMS1_ENST00000522291.1_Missense_Mutation_p.D960N|RIMS1_ENST00000401910.3_Missense_Mutation_p.D434N|RIMS1_ENST00000520567.1_Missense_Mutation_p.D960N|RIMS1_ENST00000425662.2_Missense_Mutation_p.D354N|RIMS1_ENST00000517960.1_Missense_Mutation_p.D960N|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000523963.1_Missense_Mutation_p.D435N|RIMS1_ENST00000491071.2_Missense_Mutation_p.D961N|RIMS1_ENST00000521978.1_Missense_Mutation_p.D961N|RIMS1_ENST00000348717.5_Missense_Mutation_p.D960N|RIMS1_ENST00000518273.1_Missense_Mutation_p.D961N|RIMS1_ENST00000517827.1_Missense_Mutation_p.D420N Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 961 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) TCGCGGCAATGATCAGGGAAA 0.438000 7 18 0 0 0.003080 0 0 OR10A5 144124 broad.mit.edu 37 11 6867102 6867102 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6867102C>T ENST00000299454.4 + 1 220 c.189C>T c.(187-189)ttC>ttT p.F63F OR10A5_ENST00000379831.2_Silent_p.F67F Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 63 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2) 21 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TGTACTTCTTCCTCAGAAACT 0.473000 35 82 0 0 0.003610 0 0 STARD13 90627 broad.mit.edu 37 13 33704280 33704280 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:33704280C>T ENST00000336934.5 - 5 650 c.534G>A c.(532-534)agG>agA p.R178R STARD13_ENST00000399365.3_Silent_p.R60R|STARD13_ENST00000255486.4_Silent_p.R170R NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 178 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TGGTCGTGTTCCTCATCCCCG 0.607000 9 19 0 0 0.006214 0 0 SDPR 8436 broad.mit.edu 37 2 192701092 192701092 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:192701092G>A ENST00000304141.4 - 2 1164 c.835C>T c.(835-837)Cac>Tac p.H279Y NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 279 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) ATTTTCTGGTGATTTGACGTG 0.448000 40 99 0 0 0.009718 0 0 DNAH10 196385 broad.mit.edu 37 12 124303737 124303737 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:124303737G>A ENST00000409039.3 + 22 3611 c.3586G>A c.(3586-3588)Gag>Aag p.E1196K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1196 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TCAGATAGAGGAGTTTGCAAA 0.393000 5 12 0 0 0.000602 0 0 ZNF366 167465 broad.mit.edu 37 5 71739801 71739801 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:71739801C>T ENST00000318442.5 - 5 2507 c.2017G>A c.(2017-2019)Gga>Aga p.G673R NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TCCCATTCTCCCTTGGATGCA 0.612000 59 116 0 0 0.003610 0 0 TDRD1 56165 broad.mit.edu 37 10 115985945 115985945 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:115985945C>T ENST00000251864.2 + 22 3298 c.3145C>T c.(3145-3147)Cct>Tct p.P1049S TDRD1_ENST00000422662.1_Missense_Mutation_p.P653S|TDRD1_ENST00000369282.1_Missense_Mutation_p.P1049S|TDRD1_ENST00000369280.1_Missense_Mutation_p.P1049S|TDRD1_ENST00000369281.2_Missense_Mutation_p.P935S NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 1049 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CCTGGCGCTTCCTTTCCAAAT 0.408000 5 15 0 0 0.000602 0 0 CLPS 1208 broad.mit.edu 37 6 35765011 35765011 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:35765011G>A ENST00000259938.2 - 1 77 c.55C>T c.(55-57)Cct>Tct p.P19S NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 19 lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region large_intestine(2)|lung(2)|prostate(1) 5 CGGGGGCCAGGAGCTGCATAG 0.597000 9 79 0 0 0.008291 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536156 31536156 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:31536156C>T ENST00000215885.3 - 1 437 c.185G>A c.(184-186)tGg>tAg p.W62* NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 62 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 ATGCGCATCCCAGCGGGCATG 0.637000 15 52 0 0 0.002450 0 0 TNC 3371 broad.mit.edu 37 9 117808821 117808821 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:117808821C>T ENST00000350763.4 - 17 5404 c.4993G>A c.(4993-4995)Gaa>Aaa p.E1665K TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Missense_Mutation_p.E1302K|TNC_ENST00000340094.3_Missense_Mutation_p.E1301K|TNC_ENST00000346706.3_Missense_Mutation_p.E1119K|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.E1483K|TNC_ENST00000535648.1_Missense_Mutation_p.E1210K|TNC_ENST00000345230.3_Intron NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 1665 Fibronectin type-III 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 AGGGTTATTTCCAGTGGCTCA 0.478000 29 60 0 0 0.008361 0 0 CFHR5 81494 broad.mit.edu 37 1 196967416 196967416 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196967416C>T ENST00000367414.5 + 7 1257 c.1201C>T c.(1201-1203)Cct>Tct p.P401S CFHR5_ENST00000256785.4_Missense_Mutation_p.P377S NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 377 Sushi 7. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 GAAATGGAATCCTGAAGTAGA 0.308000 6 11 0 0 0.004482 0 0 CLVS2 134829 broad.mit.edu 37 6 123369783 123369783 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:123369783G>A ENST00000275162.4 + 4 1916 c.581G>A c.(580-582)cGa>cAa p.R194Q CLVS2_ENST00000368438.1_Missense_Mutation_p.R48Q NM_001010852.2 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 194 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TTCCCAGCGCGATTTGGAGGA 0.388000 34 121 0 0 0.006230 0 0 CKAP5 9793 broad.mit.edu 37 11 46800070 46800070 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:46800070C>T ENST00000529230.1 - 21 2559 c.2513G>A c.(2512-2514)gGa>gAa p.G838E CKAP5_ENST00000312055.5_Missense_Mutation_p.G838E|CKAP5_ENST00000415402.1_Missense_Mutation_p.G838E|CKAP5_ENST00000354558.3_Missense_Mutation_p.G838E Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 838 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TGGTTCATCTCCATCTTCTCC 0.443000 20 31 0 0 0.010504 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858605 9858605 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:9858605C>T ENST00000396573.2 - 14 3105 c.2796G>A c.(2794-2796)atG>atA p.M932I GRIN2A_ENST00000535259.1_Missense_Mutation_p.M775I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M932I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M932I|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M932I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.M932I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 932 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAACCATGTCCATGATGAGGG 0.443000 38 70 0 0 0.005524 0 0 AMER1 139285 broad.mit.edu 37 X 63410232 63410232 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:63410232G>A ENST00000330258.3 - 2 3207 c.2935C>T c.(2935-2937)Cag>Tag p.Q979* AMER1_ENST00000403336.1_Intron|AMER1_ENST00000374869.3_Intron NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) CTGTCCAACTGGTTGGGGCTT 0.562000 7 6 0 0 0.001984 0 0 PTPRB 5787 broad.mit.edu 37 12 70960357 70960357 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:70960357G>A ENST00000334414.6 - 15 3806 c.3762C>T c.(3760-3762)atC>atT p.I1254I PTPRB_ENST00000261266.5_Silent_p.I1036I|PTPRB_ENST00000550857.1_Silent_p.I946I|PTPRB_ENST00000551525.1_Silent_p.I1253I|PTPRB_ENST00000550358.1_Silent_p.I1166I|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Silent_p.I946I NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1036 Fibronectin type-III 14. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCGCAGAAGGATTCCATTTT 0.413000 16 50 0 0 0.004990 0 0 STARD4 134429 broad.mit.edu 37 5 110836693 110836693 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:110836693T>A ENST00000502322.1 - 5 618 c.404A>T c.(403-405)aAt>aTt p.N135I STARD4_ENST00000511569.1_5'UTR|STARD4_ENST00000296632.3_Intron|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000512160.1_Intron Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 135 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) CATGTTGAGATTATTACCACA 0.348000 23 59 0 0 0.004656 0 0 IGHV3-15 28448 broad.mit.edu 37 14 106610536 106610536 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106610536C>T ENST00000390603.2 - 0 213 GAAAGTGAATCCAGAGGCTGC 0.577000 21 60 0 0 0.008871 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498443 123498443 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:123498443G>A ENST00000280562.5 - 3 430 c.225C>T c.(223-225)tcC>tcT p.S75S PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Silent_p.S75S|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Silent_p.S75S|PITPNM2_ENST00000546049.1_Silent_p.S75S Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 75 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGGGCAGGATGGAGCGGAACC 0.622000 16 40 0 0 0.006122 0 0 PRDM8 56978 broad.mit.edu 37 4 81123399 81123399 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:81123399C>T ENST00000339711.4 + 10 2014 c.783C>T c.(781-783)ttC>ttT p.F261F PRDM8_ENST00000415738.2_Silent_p.F261F|PRDM8_ENST00000504452.1_Silent_p.F261F NM_020226.3 NP_064611.3 Q9NQV8 PRDM8_HUMAN PR domain containing 8 261 Gly-rich.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2) 10 CCACAGACTTCCACAACCTGG 0.716000 OREG0016246 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 41 0 0 0.001882 0 0 DMWD 1762 broad.mit.edu 37 19 46289693 46289693 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:46289693G>A ENST00000270223.6 - 3 1106 c.1061C>T c.(1060-1062)tCc>tTc p.S354F DMWD_ENST00000377735.3_Missense_Mutation_p.S354F NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 354 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CTCGGTGAAGGACCACACGGT 0.647000 19 57 0 0 0.007413 0 0 MARK2 2011 broad.mit.edu 37 11 63670575 63670575 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:63670575C>T ENST00000402010.2 + 14 2038 c.1459C>T c.(1459-1461)Cca>Tca p.P487S MARK2_ENST00000350490.7_Missense_Mutation_p.P486S|MARK2_ENST00000377809.4_Missense_Mutation_p.P487S|MARK2_ENST00000425897.2_Missense_Mutation_p.P453S|MARK2_ENST00000509502.2_Missense_Mutation_p.P453S|MARK2_ENST00000361128.5_Missense_Mutation_p.P487S|MARK2_ENST00000513765.2_Missense_Mutation_p.P454S|MARK2_ENST00000502399.3_Missense_Mutation_p.P486S|MARK2_ENST00000408948.3_Missense_Mutation_p.P453S|MARK2_ENST00000315032.8_Missense_Mutation_p.P487S|MARK2_ENST00000377810.3_Missense_Mutation_p.P453S|MARK2_ENST00000508192.1_Missense_Mutation_p.P486S|MARK2_ENST00000413835.2_Missense_Mutation_p.P487S NM_001039469.2 NP_001034558.2 Q7KZI7 MARK2_HUMAN MAP/microtubule affinity-regulating kinase 2 487 cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress plasma membrane ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 CAGGAATTCCCCACTTTTGGA 0.577000 26 66 0 0 0.002096 0 0 CNTD2 79935 broad.mit.edu 37 19 40732416 40732416 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:40732416G>A ENST00000430325.2 - 1 181 c.133C>T c.(133-135)Ccc>Tcc p.P45S CNTD2_ENST00000433940.1_Missense_Mutation_p.P45S NM_024877.3 NP_079153.2 B4DX65 B4DX65_HUMAN cyclin N-terminal domain containing 2 45 regulation of cyclin-dependent protein kinase activity protein kinase binding lung(1)|prostate(1) 2 AAGCCGTCGGGGACTGCGGCG 0.731000 9 16 0 0 0.008291 0 0 TBX18 9096 broad.mit.edu 37 6 85466570 85466570 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:85466570G>A ENST00000369663.5 - 4 954 c.617C>T c.(616-618)tCg>tTg p.S206L TBX18_ENST00000606784.1_Missense_Mutation_p.S48L|TBX18_ENST00000606521.1_5'UTR NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 206 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.S206L(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CATCCATTTCGAACTGTGGTA 0.488000 9 35 0 0 0.006214 0 0 PCDH18 54510 broad.mit.edu 37 4 138452734 138452734 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:138452734G>A ENST00000344876.4 - 1 895 c.509C>T c.(508-510)tCc>tTc p.S170F PCDH18_ENST00000412923.2_Missense_Mutation_p.S170F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 170 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGTGTGGAGGGAATTTTCCCC 0.458000 9 22 0 0 0.006214 0 0 PXDNL 137902 broad.mit.edu 37 8 52384800 52384800 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:52384800G>A ENST00000356297.4 - 8 859 c.759C>T c.(757-759)ttC>ttT p.F253F PXDNL_ENST00000543296.1_Silent_p.F253F NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 253 Ig-like C2-type 1. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CCCGGCAGGTGAAGTAGACGG 0.443000 29 72 0 0 0.003271 0 0 LAMA1 284217 broad.mit.edu 37 18 6975027 6975027 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:6975027G>A ENST00000389658.3 - 46 6591 c.6498C>T c.(6496-6498)ttC>ttT p.F2166F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2166 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCACTGCAAGGAAATCAGACT 0.537000 7 9 0 0 0.003080 0 0 ACSM2B 348158 broad.mit.edu 37 16 20565132 20565132 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20565132G>A ENST00000329697.6 - 5 875 c.707C>T c.(706-708)tCg>tTg p.S236L ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S236L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S236L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.S157L NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 236 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 GCCCAGGCTCGAGTAGGAATG 0.507000 23 45 0 0 0.003954 0 0 HYDIN 54768 broad.mit.edu 37 16 70891771 70891771 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:70891771G>A ENST00000393567.2 - 72 12282 c.12132C>T c.(12130-12132)atC>atT p.I4044I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4044 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ACTGGAACACGATCTAACAAG 0.478000 4 54 0 0 0.000602 0 0 SLC4A1 6521 broad.mit.edu 37 17 42327849 42327849 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:42327849C>T ENST00000262418.6 - 20 2868 c.2713G>A c.(2713-2715)Gac>Aac p.D905N NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 905 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCCACTTCGTCGTATTCATCC 0.597000 10 35 0 0 0.001368 0 0 MAP3K12 7786 broad.mit.edu 37 12 53879933 53879933 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53879933G>A ENST00000267079.2 - 5 854 c.629C>T c.(628-630)cCc>cTc p.P210L MAP3K12_ENST00000547488.1_Missense_Mutation_p.P243L|MAP3K12_ENST00000547035.1_Missense_Mutation_p.P243L NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 210 Protein kinase. histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 CAGTAAGGAGGGGGTGACAGG 0.592000 21 41 0 0 0.003330 0 0 PCDHA11 56138 broad.mit.edu 37 5 140249718 140249718 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140249718G>A ENST00000398640.2 + 1 1030 c.1030G>A c.(1030-1032)Gat>Aat p.D344N PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACACCAACGATAACTCTCC 0.512000 11 40 0 0 0.002450 0 0 ST8SIA2 8128 broad.mit.edu 37 15 92981769 92981769 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:92981769C>T ENST00000268164.3 + 4 714 c.477C>T c.(475-477)atC>atT p.I159I ST8SIA2_ENST00000539113.1_Silent_p.I138I NM_006011.3 NP_006002.1 Q92186 SIA8B_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 159 axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1) 20 Lung NSC(78;0.0893)|all_lung(78;0.125) BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203) CTTGTGCCATCGTGGGCAACT 0.577000 19 23 0 0 0.006122 0 0 TRAIP 10293 broad.mit.edu 37 3 49878425 49878425 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49878425C>T ENST00000331456.2 - 8 811 c.698G>A c.(697-699)aGa>aAa p.R233K TRAIP_ENST00000469027.1_Intron NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 233 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TACCTTGCTTCTGGAGGAAAA 0.507000 OREG0015575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 75 0 0 0.008361 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251645 24251645 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:24251645G>A ENST00000538205.1 + 5 658 c.111G>A c.(109-111)acG>acA p.T37T RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T116T|ADAMDEC1_ENST00000522298.1_Silent_p.T37T NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 116 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AAATTACCACGAAACCTGAGA 0.458000 3 14 0 0 0.004672 0 0 DNER 92737 broad.mit.edu 37 2 230282920 230282920 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:230282920C>T ENST00000341772.4 - 9 1647 c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 505 EGF-like 8; calcium-binding (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) TCATTATATTCCTCCTCACAG 0.532000 7 33 0 0 0.003080 0 0 DMXL2 23312 broad.mit.edu 37 15 51857296 51857296 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:51857296C>T ENST00000251076.5 - 4 640 c.353G>A c.(352-354)tGg>tAg p.W118* DMXL2_ENST00000543779.2_Nonsense_Mutation_p.W118*|DMXL2_ENST00000449909.3_Nonsense_Mutation_p.W118*|DMXL2_ENST00000560421.1_5'UTR NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 118 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) TTGAGGATCCCATGCTAAGTT 0.284000 3 4 0 0 0.004672 0 0 UGT3A1 133688 broad.mit.edu 37 5 35965601 35965601 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:35965601C>A ENST00000274278.3 - 4 1087 c.730G>T c.(730-732)Gca>Tca p.A244S UGT3A1_ENST00000513233.1_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.A244S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.A190S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.A210S NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 244 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACAACTCTGCTTTCAGTAGA 0.448000 11 30 3.07112e-06 3.14805e-06 0.000978 1 0 SLC8A3 6547 broad.mit.edu 37 14 70633621 70633621 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:70633621G>A ENST00000381269.2 - 2 2272 c.1519C>T c.(1519-1521)Ccc>Tcc p.P507S SLC8A3_ENST00000357887.3_Missense_Mutation_p.P507S|SLC8A3_ENST00000356921.2_Missense_Mutation_p.P507S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P507S|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P507S NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 507 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CGAGGCAAGGGAAGACTGTTG 0.493000 17 40 0 0 0.004007 0 0 LOC440040 440040 broad.mit.edu 37 11 49831758 49831758 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:49831758C>T ENST00000527477.1 + 0 1983 CTTCTCACCTCCTCTCAGGCC 0.433000 41 110 0 0 0.002852 0 0 IQCF3 401067 broad.mit.edu 37 3 51864793 51864793 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:51864793C>T ENST00000456080.1 + 8 1606 c.441C>T c.(439-441)ttC>ttT p.F147F IQCF3_ENST00000437810.2_Silent_p.F147F|IQCF3_ENST00000446775.1_Silent_p.F147F|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000444293.1_3'UTR|IQCF3_ENST00000440739.2_Silent_p.F147F P0C7M6 IQCF3_HUMAN IQ motif containing F3 147 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGCCAGAGTTCCACATTGAAA 0.488000 11 22 0 0 0.008291 0 0 DHRS12 79758 broad.mit.edu 37 13 52373720 52373720 + Nonsense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:52373720C>A ENST00000218981.1 - 2 187 c.76G>T c.(76-78)Gag>Tag p.E26* DHRS12_ENST00000280056.2_Nonsense_Mutation_p.E26*|DHRS12_ENST00000444610.2_Missense_Mutation_p.G47V|DHRS12_ENST00000490949.1_5'UTR NM_024705.2 NP_078981.1 A0PJE2 DHR12_HUMAN dehydrogenase/reductase (SDR family) member 12 0 binding|oxidoreductase activity cervix(1)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1) 7 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) GCTGTTTCCTCCAGTGACCAA 0.527000 36 85 1.03484e-13 1.0678e-13 0.005524 1 0 SLC13A1 6561 broad.mit.edu 37 7 122821054 122821054 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:122821054G>A ENST00000194130.2 - 2 240 c.201C>T c.(199-201)ccC>ccT p.P67P SLC13A1_ENST00000539873.1_Silent_p.P3P NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 67 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TCCCAAACATGGGTAACATTA 0.403000 9 23 0 0 0.006214 0 0 MYOM3 127294 broad.mit.edu 37 1 24417428 24417428 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:24417428G>A ENST00000330966.7 - 12 1456 c.1294C>T c.(1294-1296)Cgg>Tgg p.R432W MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.R431W|MYOM3_ENST00000374434.3_Missense_Mutation_p.R431W Q5VTT5 MYOM3_HUMAN myomesin 3 431 Fibronectin type-III 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ATTGGGCACCGACAAGTCCCT 0.642000 14 55 0 0 0.008871 0 0 HIST1H2BB 3018 broad.mit.edu 37 6 26043697 26043697 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:26043697C>T ENST00000357905.2 - 1 188 c.189G>A c.(187-189)atG>atA p.M63I NM_021062.2 NP_066406.1 P33778 H2B1B_HUMAN histone cluster 1, H2bb 63 nucleosome assembly nucleosome|nucleus DNA binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 CGAAGGAATTCATGATCCCCA 0.552000 33 130 0 0 0.002836 0 0 TNFSF8 944 broad.mit.edu 37 9 117680408 117680408 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:117680408G>A ENST00000223795.2 - 2 319 c.206C>T c.(205-207)cCc>cTc p.P69L NM_001244.3 NP_001235.1 P32971 TNFL8_HUMAN tumor necrosis factor (ligand) superfamily, member 8 69 cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction extracellular space|integral to plasma membrane cytokine activity|tumor necrosis factor receptor binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1) 12 AGGTGAGTTGGGAATGGAGTC 0.373000 3 12 0 0 0.000602 0 0 MON1A 84315 broad.mit.edu 37 3 49947860 49947860 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49947860G>A ENST00000417270.1 - 5 1788 c.1095C>T c.(1093-1095)tcC>tcT p.S365S MON1A_ENST00000455683.2_Silent_p.S292S|CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.S454S Q86VX9 MON1A_HUMAN MON1 secretory trafficking family member A 357 protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CCTCGCGAAAGGACGAGGAGG 0.602000 15 19 0 0 0.004007 0 0 KRT83 3889 broad.mit.edu 37 12 52715014 52715014 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52715014G>A ENST00000293670.3 - 1 168 c.106C>T c.(106-108)Ccc>Tcc p.P36S NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 36 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) CCGCGGTAGGGGGCGGCGGTG 0.701000 17 47 0 0 0.010504 0 0 ANGPT4 51378 broad.mit.edu 37 20 854937 854937 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:854937C>T ENST00000381922.3 - 8 1443 c.1341G>A c.(1339-1341)gtG>gtA p.V447V ANGPT4_ENST00000546022.1_Intron NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 447 Fibrinogen C-terminal. 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 CTCCAGACATCACTTGGGCAC 0.617000 22 40 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179582050 179582050 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179582050C>T ENST00000589042.1 - 88 25635 c.25411G>A c.(25411-25413)Gaa>Aaa p.E8471K TTN_ENST00000342992.6_Missense_Mutation_p.E7227K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E8154K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8154 Ig-like 67. 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) GTACCACTTTCTCCAAGAGCA 0.408000 15 33 0 0 0.002450 0 0 DSG4 147409 broad.mit.edu 37 18 28970666 28970666 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:28970666C>T ENST00000359747.4 + 6 594 c.565C>T c.(565-567)Cat>Tat p.H189Y RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.H189Y NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 189 Cadherin 2. Missing (in LAH1). 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) TGAAGAAAATCATCTGAATTC 0.408000 14 22 0 0 0.001855 0 0 VWA8 23078 broad.mit.edu 37 13 42393512 42393512 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:42393512G>A ENST00000379310.3 - 15 1779 c.1711C>T c.(1711-1713)Cct>Tct p.P571S VWA8_ENST00000281496.6_Missense_Mutation_p.P571S NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 GGATGGATAGGAAAAATGGAT 0.388000 8 21 0 0 0.003080 0 0 MSH4 4438 broad.mit.edu 37 1 76378534 76378534 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:76378534C>T ENST00000263187.3 + 20 2877 c.2773C>T c.(2773-2775)Ccc>Tcc p.P925S NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 925 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 AGAAGATTTTCCCAGGACTGA 0.328000 Mismatch excision repair (MMR) 10 11 0 0 0.001855 0 0 FAM47A 158724 broad.mit.edu 37 X 34149014 34149014 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:34149014G>A ENST00000346193.3 - 1 1433 c.1382C>T c.(1381-1383)tCc>tTc p.S461F NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 461 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CCCACAAGGGGATTTATGAGG 0.582000 19 11 0 0 0.010504 0 0 COL4A1 1282 broad.mit.edu 37 13 110827028 110827028 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:110827028G>A ENST00000375820.4 - 38 3388 c.3267C>T c.(3265-3267)atC>atT p.I1089I NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1089 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCATTCCTGGGATCCCAATGC 0.527000 47 99 0 0 0.003610 0 0 CYP4F11 57834 broad.mit.edu 37 19 16025448 16025448 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16025448C>T ENST00000402119.3 - 10 1704 c.1278G>A c.(1276-1278)ggG>ggA p.G426G CYP4F11_ENST00000326742.7_Intron|CYP4F11_ENST00000248041.7_Silent_p.G426G NM_021187.3 NP_067010.3 Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 426 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 TGTAATGGATCCCGATAATAT 0.572000 28 41 0 0 0.009535 0 0 MUC16 94025 broad.mit.edu 37 19 9072184 9072184 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9072184C>T ENST00000397910.4 - 3 15465 c.15262G>A c.(15262-15264)Gaa>Aaa p.E5088K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5090 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCACAGGTTCCAAGCGTGTA 0.423000 33 89 0 0 0.004878 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24251642 24251642 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:24251642C>T ENST00000538205.1 + 5 655 c.108C>T c.(106-108)acC>acT p.T36T RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.T115T|ADAMDEC1_ENST00000522298.1_Silent_p.T36T NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 115 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AGGAAATTACCACGAAACCTG 0.458000 5 14 0 0 0.000602 0 0 SLIT2 9353 broad.mit.edu 37 4 20525485 20525485 + Silent SNP C C T rs145340436 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:20525485C>T ENST00000504154.1 + 13 1485 c.1233C>T c.(1231-1233)atC>atT p.I411I SLIT2_ENST00000273739.5_Silent_p.I415I|SLIT2_ENST00000503837.1_Silent_p.I415I|SLIT2_ENST00000503823.1_Silent_p.I411I NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 411 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TTCAGACCATCGCCAAGGGGA 0.418000 25 50 0 0 0.004656 0 0 NOTCH4 4855 broad.mit.edu 37 6 32187388 32187388 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32187388G>A ENST00000375023.3 - 8 1629 c.1491C>T c.(1489-1491)ttC>ttT p.F497F NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 497 EGF-like 12; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGAGGCAGTGGAAGGTGGCAA 0.602000 59 222 0 0 0.003610 0 0 ABLIM3 22885 broad.mit.edu 37 5 148630942 148630942 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:148630942C>T ENST00000506113.1 + 20 2291 c.1809C>T c.(1807-1809)ttC>ttT p.F603F ABLIM3_ENST00000326685.7_Silent_p.F508F|ABLIM3_ENST00000504238.1_Silent_p.F492F|RP11-331K21.1_ENST00000522685.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000356541.3_Silent_p.F492F|ABLIM3_ENST00000309868.7_Silent_p.F603F|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000508983.1_Silent_p.F570F|ABLIM3_ENST00000517451.1_Silent_p.F89F O94929 ABLM3_HUMAN actin binding LIM protein family, member 3 603 axon guidance|cytoskeleton organization cytoplasm actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGACCTCTTCCACTACGACA 0.582000 12 16 0 0 0.002450 0 0 SCN2A 6326 broad.mit.edu 37 2 166210824 166210824 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166210824C>T ENST00000375437.2 + 17 3332 c.3042C>T c.(3040-3042)atC>atT p.I1014I SCN2A_ENST00000375427.2_Silent_p.I1014I|SCN2A_ENST00000283256.6_Silent_p.I1014I|SCN2A_ENST00000357398.3_Silent_p.I1014I NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1014 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGAAAGGAATCGATTTTGTTA 0.348000 24 46 0 0 0.002780 0 0 USH2A 7399 broad.mit.edu 37 1 215844436 215844436 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:215844436C>T ENST00000366943.2 - 64 14397 c.14011G>A c.(14011-14013)Gaa>Aaa p.E4671K USH2A_ENST00000307340.3_Missense_Mutation_p.E4671K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4671 Fibronectin type-III 32. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGTATAATTCGTAATACAAA 0.418000 HNSCC(13;0.011) 16 59 0 0 0.003163 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439502 145439502 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:145439502C>T ENST00000511217.1 + 8 1681 c.1629C>T c.(1627-1629)acC>acT p.T543T SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.T543T Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 543 ligase activity|protein phosphatase 1 binding|zinc ion binding 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) GCAGCCCCACCATGGTCCTTC 0.617000 17 34 0 0 0.004990 0 0 SLAMF7 57823 broad.mit.edu 37 1 160720162 160720162 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160720162C>T ENST00000368043.3 + 4 755 c.718C>T c.(718-720)Ctc>Ttc p.L240F SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.L240F|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Missense_Mutation_p.L133F|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000444090.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 240 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCTGCTCAGTCTCTTTGTACT 0.502000 44 99 0 0 0.003610 0 0 SORCS3 22986 broad.mit.edu 37 10 106924109 106924109 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:106924109C>T ENST00000369701.3 + 12 2008 c.1781C>T c.(1780-1782)tCc>tTc p.S594F NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 594 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GTGTTCATCTCCTCCGATGGG 0.438000 12 18 0 0 0.001855 0 0 TM4SF18 116441 broad.mit.edu 37 3 149040220 149040220 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:149040220G>A ENST00000296059.2 - 5 679 c.414C>T c.(412-414)ttC>ttT p.F138F TM4SF18_ENST00000470080.1_Silent_p.F138F|RP11-206M11.7_ENST00000489011.1_RNA NM_138786.3 NP_620141.1 Q96CE8 T4S18_HUMAN transmembrane 4 L six family member 18 138 integral to membrane lung(1)|ovary(1)|prostate(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) AATCTGTAAGGAAACTGAGAG 0.393000 8 16 0 0 0.000978 0 0 OR4K13 390433 broad.mit.edu 37 14 20502263 20502263 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20502263C>T ENST00000315693.2 - 1 656 c.655G>A c.(655-657)Gga>Aga p.G219R NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATTATGACTCCATAGGAGACA 0.493000 18 34 0 0 0.001882 0 0 ZPLD1 131368 broad.mit.edu 37 3 102183090 102183090 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:102183090C>T ENST00000306176.1 + 7 904 c.804C>T c.(802-804)ttC>ttT p.F268F ZPLD1_ENST00000491959.1_Silent_p.F252F|ZPLD1_ENST00000466937.1_Silent_p.F252F NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 252 ZP. integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 ATGATCTTTTCCTTAGGTAAG 0.313000 14 36 0 0 0.001855 0 0 PCDH18 54510 broad.mit.edu 37 4 138451647 138451647 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:138451647G>A ENST00000344876.4 - 1 1982 c.1596C>T c.(1594-1596)atC>atT p.I532I PCDH18_ENST00000412923.2_Silent_p.I532I|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Silent_p.I312I NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 532 Cadherin 5. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) CATGATCAAAGATTCTGAGGG 0.423000 22 61 0 0 0.003330 0 0 DLG4 1742 broad.mit.edu 37 17 7106568 7106568 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:7106568C>T ENST00000399510.2 - 9 1567 c.715G>A c.(715-717)Gaa>Aaa p.E239K DLG4_ENST00000485100.1_Missense_Mutation_p.E193K|DLG4_ENST00000302955.6_Missense_Mutation_p.E193K|DLG4_ENST00000399506.2_Missense_Mutation_p.E196K NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 196 PDZ 2. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 GCACCCCCTTCGATGATCTTT 0.547000 4 17 0 0 0.001168 0 0 TCEA2 6919 broad.mit.edu 37 20 62699406 62699406 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:62699406C>T ENST00000395053.3 + 4 403 c.248C>T c.(247-249)tCc>tTc p.S83F TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.S83F|TCEA2_ENST00000361317.2_Missense_Mutation_p.S56F Q15560 TCEA2_HUMAN transcription elongation factor A (SII), 2 83 TFIIS N-terminal. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent transcription elongation factor complex DNA binding|protein binding|translation elongation factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7) 12 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GCAGATGCTTCCGATGCCAAA 0.647000 11 33 0 0 0.001855 0 0 DOCK6 57572 broad.mit.edu 37 19 11333778 11333778 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:11333778A>G ENST00000294618.7 - 25 2971 c.2960T>C c.(2959-2961)gTg>gCg p.V987A DOCK6_ENST00000319867.7_Missense_Mutation_p.V326A NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 987 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GGCCAGCTCCACATCCTGGGG 0.627000 9 25 0 0 0.006214 0 0 HERC2 8924 broad.mit.edu 37 15 28414666 28414666 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:28414666G>A ENST00000261609.7 - 66 10301 c.10193C>T c.(10192-10194)tCa>tTa p.S3398L NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3398 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AAGAATATGTGATAAGGCCTG 0.373000 13 10 0 0 0.001855 0 0 GLRB 2743 broad.mit.edu 37 4 157999189 157999189 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:157999189T>C ENST00000264428.4 + 2 283 c.13T>C c.(13-15)Ttg>Ctg p.L5L GLRB_ENST00000509282.1_Silent_p.L5L|GLRB_ENST00000512619.1_Silent_p.L5L|GLRB_ENST00000541722.1_Silent_p.L5L NM_000824.4 NP_000815.1 P48167 GLRB_HUMAN glycine receptor, beta 5 nervous system development|neuropeptide signaling pathway|startle response cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|protein binding|receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1) 27 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707) Glycine(DB00145) GAAGTTTTTATTGACAACTGC 0.318000 7 10 0 0 0.001984 0 0 KCNA6 3742 broad.mit.edu 37 12 4920731 4920731 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:4920731G>A ENST00000433855.1 + 1 2390 c.1524G>A c.(1522-1524)cgG>cgA p.R508R KCNA6_ENST00000280684.3_Silent_p.R508R NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 508 voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5) 49 ACCGGGAACGGAGACCCAGCT 0.612000 HNSCC(72;0.22) 20 44 0 0 0.010504 0 0 HLA-B 3106 broad.mit.edu 37 6 31323234 31323234 + Missense_Mutation SNP G G A rs41557013 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:31323234G>A ENST00000412585.2 - 4 783 c.755C>T c.(754-756)aCt>aTt p.T252I NM_005514.6 NP_005505.2 major histocompatibility complex, class I, B endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2) 27 CACAAGCTCAGTGTCCTGAGT 0.577000 Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of 13 66 0 0 0.002450 0 0 MYOM2 9172 broad.mit.edu 37 8 2063855 2063855 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:2063855G>A ENST00000262113.4 + 26 3425 c.3284G>A c.(3283-3285)gGg>gAg p.G1095E MYOM2_ENST00000523438.1_Missense_Mutation_p.G520E NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1095 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATTCATGATGGGAAAGCCAAA 0.358000 10 26 0 0 0.006214 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3679916 3679916 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:3679916G>A ENST00000344754.4 - 7 1718 c.1719C>T c.(1717-1719)taC>taT p.Y573Y SIGLEC1_ENST00000202578.4_Silent_p.Y573Y NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 573 Ig-like C2-type 5. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 CCCGGCAGTGGTATGAGCCGG 0.677000 8 10 0 0 0.004482 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481765 140481765 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140481765G>A ENST00000231130.2 + 1 1532 c.1532G>A c.(1531-1533)gGc>gAc p.G511D AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 511 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCGGACAACGGCCACCTGTTT 0.667000 25 56 0 0 0.005443 0 0 TRPV4 59341 broad.mit.edu 37 12 110246249 110246249 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:110246249G>A ENST00000418703.2 - 2 505 c.411C>T c.(409-411)gcC>gcT p.A137A TRPV4_ENST00000536838.1_Silent_p.A103A|TRPV4_ENST00000392719.2_Silent_p.A137A|TRPV4_ENST00000537083.1_Silent_p.A137A|TRPV4_ENST00000346520.2_Silent_p.A137A|TRPV4_ENST00000261740.2_Silent_p.A137A|TRPV4_ENST00000544971.1_Silent_p.A137A|TRPV4_ENST00000541794.1_Silent_p.A137A NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 137 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GAGGGGCAGGGGCTTTGGGGC 0.657000 6 23 0 0 0.001168 0 0 MXRA5 25878 broad.mit.edu 37 X 3241350 3241350 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:3241350C>T ENST00000217939.6 - 5 2530 c.2376G>A c.(2374-2376)ggG>ggA p.G792G NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 792 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) GGAGATTTTTCCCACGGACTT 0.453000 30 16 0 0 0.009535 0 0 CSDC2 27254 broad.mit.edu 37 22 41968137 41968137 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:41968137C>T ENST00000306149.7 + 2 712 c.168C>T c.(166-168)acC>acT p.T56T NM_014460.3 NP_055275.1 Q9Y534 CSDC2_HUMAN cold shock domain containing C2, RNA binding 56 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|RNA binding prostate(2)|upper_aerodigestive_tract(1) 3 GGACCAGGACCTATTCAGCGT 0.652000 4 8 0 0 0.001168 0 0 THOC5 8563 broad.mit.edu 37 22 29940511 29940511 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:29940511G>A ENST00000490103.1 - 3 300 c.178C>T c.(178-180)Cag>Tag p.Q60* THOC5_ENST00000397873.2_Nonsense_Mutation_p.Q60*|THOC5_ENST00000397871.1_Nonsense_Mutation_p.Q60*|THOC5_ENST00000397872.1_Nonsense_Mutation_p.Q60* NM_003678.4 NP_003669.4 Q13769 THOC5_HUMAN THO complex 5 60 Interaction with CSF1R (By similarity).|Interaction with THOC7. intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGTAGCTCCTGGCAGGTGTAC 0.542000 40 65 0 0 0.006230 0 0 PAN2 9924 broad.mit.edu 37 12 56717878 56717878 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:56717878C>T ENST00000425394.2 - 13 2396 c.2020G>A c.(2020-2022)Gtg>Atg p.V674M PAN2_ENST00000440411.3_Missense_Mutation_p.V674M|PAN2_ENST00000257931.5_Missense_Mutation_p.V673M|PAN2_ENST00000548043.1_Missense_Mutation_p.V674M NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 674 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GAGGCTCGCACGGTCTCACTG 0.537000 29 59 0 0 0.006320 0 0 PTPN5 84867 broad.mit.edu 37 11 18754168 18754168 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:18754168C>T ENST00000396170.1 - 12 2468 c.1204G>A c.(1204-1206)Gat>Aat p.D402N PTPN5_ENST00000396168.1_Missense_Mutation_p.D410N|PTPN5_ENST00000396171.4_Missense_Mutation_p.D434N|PTPN5_ENST00000477854.1_Missense_Mutation_p.D238N|PTPN5_ENST00000358540.2_Missense_Mutation_p.D434N|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Missense_Mutation_p.D402N NM_001278236.1 NP_001265165.1 P54829 PTN5_HUMAN protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) 434 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4) 27 AGCCGGTAATCCTCCGTGTGA 0.587000 OREG0020824 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 92 0 0 0.003214 0 0 APOB 338 broad.mit.edu 37 2 21234537 21234537 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:21234537C>T ENST00000233242.1 - 26 5330 c.5203G>A c.(5203-5205)Gga>Aga p.G1735R NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1735 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AGCTTAAGTCCTTCTTGACTG 0.443000 211 392 0 0 0.003610 0 0 CFH 3075 broad.mit.edu 37 1 196706689 196706689 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196706689G>A ENST00000367429.4 + 17 2921 c.2681G>A c.(2680-2682)gGg>gAg p.G894E NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 894 Sushi 15. 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 TATGCACATGGGACTAAATTG 0.378000 9 20 0 0 0.006214 0 0 MAP3K5 4217 broad.mit.edu 37 6 136888793 136888793 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:136888793C>T ENST00000359015.4 - 26 4097 c.3737G>A c.(3736-3738)gGa>gAa p.G1246E MAP3K5_ENST00000355845.4_Missense_Mutation_p.G493E NM_005923.3 NP_005914.1 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 5 1246 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4) 58 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) TTTCATCCTTCCAAGCTGTAC 0.438000 5 17 0 0 0.001168 0 0 CANT1 124583 broad.mit.edu 37 17 76993521 76993521 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:76993521G>A ENST00000302345.2 - 2 678 c.184C>T c.(184-186)Cac>Tac p.H62Y CANT1_ENST00000591773.1_Missense_Mutation_p.H62Y|CANT1_ENST00000392446.5_Missense_Mutation_p.H62Y NM_001159773.1|NM_138793.3 NP_001153245.1|NP_620148.1 Q8WVQ1 CANT1_HUMAN calcium activated nucleotidase 1 62 positive regulation of I-kappaB kinase/NF-kappaB cascade endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity CANT1/ETV4(3) cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139) GCCGGGCGGTGGGAGCAGAGC 0.687000 T ETV4 prostate 30 21 0 0 0.007291 0 0 MAEL 84944 broad.mit.edu 37 1 166958989 166958989 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:166958989G>A ENST00000367872.4 + 2 392 c.148G>A c.(148-150)Gaa>Aaa p.E50K MAEL_ENST00000367870.2_Intron NM_032858.1 NP_116247.1 Q96JY0 MAEL_HUMAN maelstrom spermatogenic transposon silencer 50 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GAGGGAGGAAGAAAAGGAGAA 0.547000 10 25 0 0 0.006214 0 0 DCX 1641 broad.mit.edu 37 X 110544926 110544926 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:110544926C>T ENST00000338081.3 - 7 1486 c.1315G>A c.(1315-1317)Gat>Aat p.D439N DCX_ENST00000488120.1_Missense_Mutation_p.D358N|DCX_ENST00000356220.3_Missense_Mutation_p.D363N|DCX_ENST00000356915.2_Missense_Mutation_p.D363N|DCX_ENST00000371993.2_Missense_Mutation_p.D358N NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 439 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TACATGGAATCACCAAGCGAG 0.448000 26 18 0 0 0.002096 0 0 STAU2 27067 broad.mit.edu 37 8 74495023 74495023 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:74495023G>A ENST00000355780.5 - 11 1326 c.1108C>T c.(1108-1110)Cct>Tct p.P370S STAU2_ENST00000522509.1_Missense_Mutation_p.P370S|STAU2_ENST00000519961.1_Missense_Mutation_p.P402S|STAU2_ENST00000521727.1_Missense_Mutation_p.P382S|STAU2_ENST00000517542.1_Missense_Mutation_p.P364S|STAU2_ENST00000522695.1_Missense_Mutation_p.P370S|STAU2_ENST00000524300.1_Missense_Mutation_p.P402S|STAU2_ENST00000523558.1_Missense_Mutation_p.P230S|STAU2_ENST00000521451.1_Missense_Mutation_p.P182S|STAU2_ENST00000521210.1_Missense_Mutation_p.P298S NM_014393.2 NP_055208.2 Q9NUL3 STAU2_HUMAN staufen double-stranded RNA binding protein 2 402 DRBM 4. transport endoplasmic reticulum|microtubule|nucleolus double-stranded RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1) 19 Breast(64;0.0138) Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972) GTTGGTTCAGGAAACCCAGGC 0.398000 13 31 0 0 0.003163 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117776419 117776419 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:117776419C>T ENST00000528626.1 - 9 1283 c.1210G>A c.(1210-1212)Gga>Aga p.G404R TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G439R|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G439R|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G439R NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 434 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) AAGGTCTGTCCATGCATGGGG 0.527000 4 6 0 0 0.000602 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993481 140993481 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:140993481G>A ENST00000285879.4 + 4 577 c.291G>A c.(289-291)caG>caA p.Q97Q MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 97 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCTCCAGAATTCTCAGA 0.572000 HNSCC(15;0.026) 42 15 0 0 0.008740 0 0 PASD1 139135 broad.mit.edu 37 X 150832599 150832599 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:150832599T>C ENST00000370357.4 + 11 1095 c.850T>C c.(850-852)Ttg>Ctg p.L284L NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 284 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) AGCCTTATCCTTGCAAGACTT 0.478000 15 20 0 0 0.004007 0 0 CYP7B1 9420 broad.mit.edu 37 8 65537059 65537059 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:65537059G>A ENST00000310193.3 - 2 333 c.160C>T c.(160-162)Cct>Tct p.P54S NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 54 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) CCAAGATAAGGAAGCCAACCT 0.378000 17 61 0 0 0.008871 0 0 MME 4311 broad.mit.edu 37 3 154886527 154886527 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:154886527G>A ENST00000460393.1 + 20 2041 c.1921G>A c.(1921-1923)Gga>Aga p.G641R MME_ENST00000462745.1_Missense_Mutation_p.G641R|MME_ENST00000492661.1_Missense_Mutation_p.G641R|MME_ENST00000493237.1_Missense_Mutation_p.G641R|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000360490.2_Missense_Mutation_p.G641R NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 641 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) ACAGCTTAATGGAATTAATAC 0.299000 11 25 0 0 0.002450 0 0 ASB2 51676 broad.mit.edu 37 14 94420818 94420818 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94420818G>A ENST00000555019.1 - 4 753 c.323C>T c.(322-324)cCc>cTc p.P108L ASB2_ENST00000315988.4_Missense_Mutation_p.P60L|ASB2_ENST00000556337.1_Intron NM_001202429.1 NP_001189358.1 Q96Q27 ASB2_HUMAN ankyrin repeat and SOCS box containing 2 60 intracellular signal transduction breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(154;0.13) COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232) CTTTATCAAGGGGTCCGCAGG 0.597000 19 56 0 0 0.001882 0 0 WRNIP1 56897 broad.mit.edu 37 6 2783763 2783763 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:2783763G>A ENST00000380769.4 + 5 1181 c.950G>A c.(949-951)cGg>cAg p.R317Q WRNIP1_ENST00000380773.4_Missense_Mutation_p.R537Q|WRNIP1_ENST00000380764.1_Missense_Mutation_p.R153Q|WRNIP1_ENST00000380771.4_Missense_Mutation_p.R512Q Q96S55 WRIP1_HUMAN Werner helicase interacting protein 1 537 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation mitochondrion|nucleus|perinuclear region of cytoplasm ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding p.R537L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 14 Ovarian(93;0.0412) all_hematologic(90;0.0895) TACGTGGCACGGAGGCTTGTC 0.602000 5 25 0 0 0.000602 0 0 TAS2R8 50836 broad.mit.edu 37 12 10959158 10959158 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:10959158G>A ENST00000240615.2 - 1 734 c.422C>T c.(421-423)tCc>tTc p.S141F NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 141 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GACCAACAAGGAAATGGCAAA 0.408000 5 16 0 0 0.001168 0 0 USP1 7398 broad.mit.edu 37 1 62911009 62911009 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:62911009A>G ENST00000339950.4 + 6 1973 c.1158A>G c.(1156-1158)gaA>gaG p.E386E USP1_ENST00000371146.1_Silent_p.E386E NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 386 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) GGAAGTGTGAAAGTGATAACA 0.348000 6 20 0 0 0.001168 0 0 LAMA1 284217 broad.mit.edu 37 18 7024447 7024447 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:7024447G>A ENST00000389658.3 - 18 2514 c.2421C>T c.(2419-2421)caC>caT p.H807H NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 807 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATCATTGAGGTGGCAGGTGG 0.433000 3 17 0 0 0.009096 0 0 TBP 6908 broad.mit.edu 37 6 170873644 170873644 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:170873644C>T ENST00000392092.2 + 4 788 c.509C>T c.(508-510)tCc>tTc p.S170F TBP_ENST00000230354.6_Missense_Mutation_p.S170F|TBP_ENST00000540980.1_Missense_Mutation_p.S150F NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 170 cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) AATATTGTATCCACAGTGAAT 0.333000 4 24 0 0 0.009096 0 0 FDXR 2232 broad.mit.edu 37 17 72862360 72862360 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72862360C>T ENST00000455107.2 - 6 684 c.268G>A c.(268-270)Ggg>Agg p.G90R FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000582944.1_Missense_Mutation_p.G126R|FDXR_ENST00000442102.2_Missense_Mutation_p.G177R|FDXR_ENST00000420580.2_Missense_Mutation_p.G94R|FDXR_ENST00000581530.1_Missense_Mutation_p.G134R|FDXR_ENST00000583917.1_Missense_Mutation_p.G135R|FDXR_ENST00000413947.2_Missense_Mutation_p.G165R|FDXR_ENST00000293195.5_Missense_Mutation_p.G134R|FDXR_ENST00000544854.1_Missense_Mutation_p.G82R P22570 ADRO_HUMAN ferredoxin reductase 134 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) TCCTCTGCCCCGTAGCTCTGA 0.657000 17 28 0 0 0.004007 0 0 ASB5 140458 broad.mit.edu 37 4 177138124 177138124 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:177138124G>A ENST00000296525.3 - 6 820 c.707C>T c.(706-708)cCa>cTa p.P236L ASB5_ENST00000512254.1_Missense_Mutation_p.P183L NM_080874.3 NP_543150.1 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box containing 5 236 intracellular signal transduction endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2) 34 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) AGCATGTAATGGAGTATCCCA 0.388000 24 66 0 0 0.003330 0 0 NKAIN2 154215 broad.mit.edu 37 6 125112496 125112496 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:125112496C>T ENST00000368417.1 + 5 546 c.486C>T c.(484-486)ttC>ttT p.F162F NKAIN2_ENST00000545433.1_Silent_p.F147F|NKAIN2_ENST00000546092.1_Silent_p.F95F NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 162 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) TGGCAGGTTTCATCTACGCCT 0.403000 10 25 0 0 0.008291 0 0 NARG2 79664 broad.mit.edu 37 15 60758794 60758794 + Splice_Site SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:60758794T>C ENST00000261520.4 - 5 761 c.528_splice c.e5+1 p.E176_splice NARG2_ENST00000561114.1_Splice_Site_p.E176_splice|NARG2_ENST00000439632.1_Splice_Site_p.E39_splice NM_024611.4 NP_078887.2 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 176 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 TTTTTTTACCTCTGTGAAGAG 0.378000 12 28 0 0 0.001855 0 0 ADAM2 2515 broad.mit.edu 37 8 39691492 39691492 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:39691492C>T ENST00000265708.4 - 3 262 c.159G>A c.(157-159)ggG>ggA p.G53G ADAM2_ENST00000347580.4_Silent_p.G53G|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000521880.1_Silent_p.G53G|ADAM2_ENST00000379853.2_Silent_p.G53G NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 53 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) TATATGGTTTCCCTTCAATTA 0.289000 5 18 0 0 0.000602 0 0 NFS1 9054 broad.mit.edu 37 20 34257606 34257606 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:34257606G>A ENST00000374092.4 - 13 1382 c.1310_splice c.e13-1 p.P438_splice NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000397425.1_Splice_Site_p.P378_splice|NFS1_ENST00000540053.1_Splice_Site_p.P236_splice|NFS1_ENST00000374085.1_Splice_Site_p.P378_splice|NFS1_ENST00000541387.1_Splice_Site_p.P387_splice NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 438 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TCCCAGAGAGGGCTGCCAAAG 0.532000 16 54 0 0 0.006122 0 0 BARX2 8538 broad.mit.edu 37 11 129306737 129306737 + Silent SNP C C T rs149011396 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:129306737C>T ENST00000281437.4 + 2 375 c.279C>T c.(277-279)atC>atT p.I93I BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 93 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCCCGGGAATCGCCCAGGCAC 0.677000 22 53 0 0 0.002780 0 0 MROH2B 133558 broad.mit.edu 37 5 41061813 41061813 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41061813G>A ENST00000399564.4 - 6 924 c.474C>T c.(472-474)ttC>ttT p.F158F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGGCTTTGCTGAATTTCTCAA 0.418000 6 25 0 0 0.001168 0 0 OPRK1 4986 broad.mit.edu 37 8 54141901 54141901 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:54141901G>A ENST00000265572.3 - 4 1396 c.1099C>T c.(1099-1101)Cct>Tct p.P367S OPRK1_ENST00000520287.1_Missense_Mutation_p.P367S|OPRK1_ENST00000524278.1_Missense_Mutation_p.P278S|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 367 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGGTAAGCAGGATCCTGAACT 0.478000 11 44 0 0 0.000978 0 0 AMN 81693 broad.mit.edu 37 14 103395162 103395162 + Silent SNP G G A rs141455061 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:103395162G>A ENST00000299155.5 + 5 396 c.363G>A c.(361-363)ggG>ggA p.G121G NM_030943.3 NP_112205.2 Q9BXJ7 AMNLS_HUMAN amnion associated transmembrane protein 121 lipid metabolic process|lipoprotein metabolic process|multicellular organismal development integral to membrane|plasma membrane kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGCGCTCTGGGGACGAGGCAC 0.677000 8 22 0 0 0.004482 0 0 SUSD2 56241 broad.mit.edu 37 22 24583630 24583630 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:24583630C>T ENST00000358321.3 + 12 2244 c.1983C>T c.(1981-1983)ttC>ttT p.F661F NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 661 VWFD. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 ACCCCACCTTCGAGCCCCTCT 0.572000 16 38 0 0 0.007413 0 0 ILDR2 387597 broad.mit.edu 37 1 166904701 166904701 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:166904701C>T ENST00000271417.3 - 6 772 c.717G>A c.(715-717)ggG>ggA p.G239G ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000469934.2_Silent_p.G239G|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000529071.1_Silent_p.G220G NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 239 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 TTGCTGCTTTCCCTGCTTCAT 0.582000 7 19 0 0 0.003080 0 0 OTOR 56914 broad.mit.edu 37 20 16730641 16730641 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:16730641G>A ENST00000246081.2 + 3 393 c.349G>A c.(349-351)Gaa>Aaa p.E117K OTOR_ENST00000486129.1_3'UTR NM_020157.2 NP_064542.1 Q9NRC9 OTOR_HUMAN otoraplin 117 sensory perception of sound extracellular region breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 10 AGCTACCAAGGAAGTTCCCAC 0.488000 8 18 0 0 0.003080 0 0 FUT9 10690 broad.mit.edu 37 6 96651677 96651677 + Missense_Mutation SNP C C T rs146949446 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:96651677C>T ENST00000302103.5 + 3 972 c.646C>T c.(646-648)Cat>Tat p.H216Y NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 216 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) CATTGAAATCCATACCTACGG 0.373000 10 27 0 0 0.006214 0 0 SNAP91 9892 broad.mit.edu 37 6 84303377 84303377 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:84303377G>A ENST00000428679.2 - 18 2109 c.1516C>T c.(1516-1518)Cct>Tct p.P506S SNAP91_ENST00000521743.1_Missense_Mutation_p.P506S|SNAP91_ENST00000521485.1_Missense_Mutation_p.P506S|SNAP91_ENST00000369694.2_Missense_Mutation_p.P506S|SNAP91_ENST00000520213.1_Intron|SNAP91_ENST00000439399.2_Missense_Mutation_p.P506S|SNAP91_ENST00000437520.1_Intron|SNAP91_ENST00000520302.1_Missense_Mutation_p.P504S|SNAP91_ENST00000195649.6_Missense_Mutation_p.P506S O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 506 Ala-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) GTAACTACAGGAACACTGGTC 0.572000 6 29 0 0 0.001168 0 0 THSD7B 80731 broad.mit.edu 37 2 137988647 137988647 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:137988647C>T ENST00000409968.1 + 8 1935 c.1757C>T c.(1756-1758)cCc>cTc p.P586L THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P555L|THSD7B_ENST00000272643.3_Missense_Mutation_p.P586L thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TGCCCAGTTCCCCCTCCTCCT 0.473000 13 29 0 0 0.002450 0 0 NDST3 9348 broad.mit.edu 37 4 119161732 119161732 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:119161732G>A ENST00000296499.5 + 11 2575 c.2172G>A c.(2170-2172)gtG>gtA p.V724V NM_004784.2 NP_004775.1 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 724 Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 TCTACGAAGTGATCTCAGCAG 0.502000 16 24 0 0 0.004990 0 0 TRHDE 29953 broad.mit.edu 37 12 73012798 73012798 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:73012798G>A ENST00000261180.4 + 13 2410 c.2314G>A c.(2314-2316)Gaa>Aaa p.E772K NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 772 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 GGACCGCATGGAAAACTACAA 0.333000 6 28 0 0 0.003080 0 0 SELP 6403 broad.mit.edu 37 1 169564075 169564075 + Silent SNP C C T rs138760541 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:169564075C>T ENST00000263686.6 - 13 2179 c.2142G>A c.(2140-2142)gcG>gcA p.A714A SELP_ENST00000367793.2_Silent_p.A652A|SELP_ENST00000367794.2_Silent_p.A652A|SELP_ENST00000458599.2_Silent_p.A530A|SELP_ENST00000367786.2_Silent_p.A652A|SELP_ENST00000367788.2_Silent_p.A652A|SELP_ENST00000367791.2_Silent_p.A528A|SELP_ENST00000367792.2_Silent_p.A530A NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 714 Sushi 9. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) AGCAGTTCATCGCTATTGGCT 0.408000 10 23 0 0 0.000978 0 0 OR4X2 119764 broad.mit.edu 37 11 48267098 48267098 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:48267098C>T ENST00000302329.3 + 1 491 c.443C>T c.(442-444)tCc>tTc p.S148F NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TTCATGCATTCCTTTGCACAA 0.498000 33 75 0 0 0.003271 0 0 CDH20 28316 broad.mit.edu 37 18 59221606 59221606 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:59221606C>T ENST00000262717.4 + 12 2482 c.2084C>T c.(2083-2085)cCc>cTc p.P695L CDH20_ENST00000538374.1_Missense_Mutation_p.P695L|CDH20_ENST00000536675.2_Missense_Mutation_p.P695L Q9HBT6 CAD20_HUMAN cadherin 20, type 2 695 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GGGGCCGCCCCCAAGACGCGG 0.697000 9 37 0 0 0.006214 0 0 KCNH6 81033 broad.mit.edu 37 17 61620959 61620959 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:61620959C>T ENST00000583023.1 + 10 2182 c.2171C>T c.(2170-2172)tCc>tTc p.S724F KCNH6_ENST00000314672.5_Missense_Mutation_p.S724F|KCNH6_ENST00000581784.1_Missense_Mutation_p.S671F|KCNH6_ENST00000456941.2_Missense_Mutation_p.S671F NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 724 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) CTCCACTCATCCCCCCGACAG 0.597000 18 88 0 0 0.007413 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11864800 11864800 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:11864800G>A ENST00000396516.2 - 9 1144 c.947C>T c.(946-948)tCt>tTt p.S316F ZC3H7A_ENST00000355758.4_Missense_Mutation_p.S316F Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 316 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 CATGCTAGGAGAGACACTGGC 0.483000 23 53 0 0 0.003330 0 0 EYA4 2070 broad.mit.edu 37 6 133789771 133789771 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:133789771G>A ENST00000367895.5 + 11 1336 c.872G>A c.(871-873)gGa>gAa p.G291E EYA4_ENST00000531901.1_Missense_Mutation_p.G291E|EYA4_ENST00000525849.1_Missense_Mutation_p.G268E|EYA4_ENST00000430974.2_Missense_Mutation_p.G237E|EYA4_ENST00000355167.3_Missense_Mutation_p.G291E|EYA4_ENST00000431403.2_Missense_Mutation_p.G291E|EYA4_ENST00000355286.6_Missense_Mutation_p.G268E|EYA4_ENST00000452339.2_Missense_Mutation_p.G237E NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 291 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TCAACGTATGGAGCGTATATG 0.428000 21 68 0 0 0.010504 0 0 SREK1 140890 broad.mit.edu 37 5 65470862 65470862 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:65470862C>T ENST00000334121.6 + 10 1732 c.1573C>T c.(1573-1575)Ccc>Tcc p.P525S SREK1_ENST00000380918.3_Missense_Mutation_p.P409S|SREK1_ENST00000284041.3_3'UTR NM_001077199.2|NM_001270492.1 NP_001070667.1|NP_001257421.1 Q8WXA9 SREK1_HUMAN splicing regulatory glutamine/lysine-rich protein 1 409 mRNA processing|RNA splicing spliceosomal complex nucleic acid binding|nucleotide binding|protein binding breast(1)|kidney(3)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1) 9 ATCTCCGTCCCCCAGGAGGTA 0.363000 9 13 0 0 0.006214 0 0 COL4A3 1285 broad.mit.edu 37 2 228137771 228137771 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:228137771G>A ENST00000396578.3 + 26 2027 c.1865G>A c.(1864-1866)gGa>gAa p.G622E AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 622 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.G622E(2) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGACCCCAAGGAGAACCTGGT 0.622000 11 35 0 0 0.008291 0 0 ME1 4199 broad.mit.edu 37 6 84117513 84117513 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:84117513G>A ENST00000369705.3 - 2 302 c.186C>T c.(184-186)ttC>ttT p.F62F ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron NM_002395.4 NP_002386.1 P48163 MAOX_HUMAN malic enzyme 1, NADP(+)-dependent, cytosolic 62 carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TCAGATGCTCGAAATTTTTTA 0.383000 23 50 0 0 0.002780 0 0 NRXN1 9378 broad.mit.edu 37 2 50779811 50779811 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:50779811G>A ENST00000404971.1 - 10 3132 c.1793C>T c.(1792-1794)tCa>tTa p.S598L NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.S558L|NRXN1_ENST00000402717.3_Missense_Mutation_p.S550L|NRXN1_ENST00000406859.3_Missense_Mutation_p.S558L|NRXN1_ENST00000405472.3_Missense_Mutation_p.S550L|NRXN1_ENST00000406316.2_Missense_Mutation_p.S558L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 558 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TATAGTACCTGACCCCATGTC 0.443000 20 55 0 0 0.007413 0 0 PRAM1 84106 broad.mit.edu 37 19 8563972 8563972 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:8563972G>A ENST00000423345.4 - 2 1240 c.720C>T c.(718-720)tcC>tcT p.S240S PRAM1_ENST00000255612.3_Silent_p.S240S Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 288 Pro-rich. lipid binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1) 19 GCTGCGGCACGGACTTCTTAG 0.612000 12 39 0 0 0.000978 0 0 UGT2B11 10720 broad.mit.edu 37 4 70071286 70071286 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:70071286C>T ENST00000446444.1 - 4 1011 c.e4-1 RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 TCCACAGAACCTGTTACAGTA 0.398000 14 42 0 0 0.001855 0 0 UBR4 23352 broad.mit.edu 37 1 19431085 19431085 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:19431085G>A ENST00000375267.2 - 86 12724 c.12721C>T c.(12721-12723)Ctc>Ttc p.L4241F UBR4_ENST00000375224.1_5'UTR|UBR4_ENST00000375217.2_Missense_Mutation_p.L4234F|UBR4_ENST00000375226.2_Missense_Mutation_p.L4217F|UBR4_ENST00000375254.3_Missense_Mutation_p.L4241F Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 4241 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTACCTGTGAGACTTTTAAGG 0.517000 3 19 0 0 0.004672 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189660 58189660 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:58189660C>T ENST00000318203.5 + 5 1386 c.689C>T c.(688-690)cCt>cTt p.P230L NM_152677.2 NP_689890.1 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 230 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGTCCTAGGCCTGAAGAGGGA 0.408000 4 11 0 0 0.000602 0 0 CPZ 8532 broad.mit.edu 37 4 8613827 8613827 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8613827G>A ENST00000429646.2 + 6 2918 c.125G>A c.(124-126)gGa>gAa p.G42E CPZ_ENST00000315782.6_Missense_Mutation_p.G423E|CPZ_ENST00000382480.2_Missense_Mutation_p.G297E|CPZ_ENST00000360986.4_Missense_Mutation_p.G434E Q66K79 CBPZ_HUMAN carboxypeptidase Z 434 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AATAGGTGTGGAGGCAATTTC 0.597000 9 21 0 0 0.006214 0 0 SLC27A1 376497 broad.mit.edu 37 19 17598335 17598335 + Missense_Mutation SNP G G T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:17598335G>T ENST00000252595.7 + 4 888 c.791G>T c.(790-792)aGc>aTc p.S264I SLC27A1_ENST00000442725.1_Missense_Mutation_p.S264I|SLC27A1_ENST00000598424.1_Missense_Mutation_p.S85I NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 264 Sufficient for oligomerization (By similarity). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GTCGTGCACAGCAGGTGAGGG 0.612000 5 12 3.59834e-05 3.67877e-05 0.001168 1 0 ARL14 80117 broad.mit.edu 37 3 160395299 160395299 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:160395299A>G ENST00000320767.2 + 1 352 c.165A>G c.(163-165)gaA>gaG p.E55E NM_025047.2 NP_079323.1 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 55 small GTPase mediated signal transduction intracellular GTP binding lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) TCGAGTTGGAAAGGAATCTTT 0.428000 12 35 0 0 0.001855 0 0 CLCA4 22802 broad.mit.edu 37 1 87036790 87036790 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:87036790G>A ENST00000370563.3 + 8 1255 c.1213G>A c.(1213-1215)Gga>Aga p.G405R CLCA4_ENST00000263723.5_Missense_Mutation_p.G118R NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 405 VWFA. apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CCAACTCGATGGATCCGAAGT 0.418000 40 82 0 0 0.002522 0 0 APBB2 323 broad.mit.edu 37 4 40936483 40936483 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:40936483G>A ENST00000295974.8 - 10 1870 c.1241C>T c.(1240-1242)cCa>cTa p.P414L APBB2_ENST00000506352.1_Missense_Mutation_p.P393L|APBB2_ENST00000508593.1_Missense_Mutation_p.P415L|APBB2_ENST00000513140.1_Missense_Mutation_p.P393L NM_001166050.1|NM_004307.1 NP_001159522.1|NP_004298.1 Q92870 APBB2_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 2 414 PID 1. cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1) 34 CTTGGCTTCTGGGTCACTGTT 0.378000 25 79 0 0 0.009535 0 0 PIK3R6 146850 broad.mit.edu 37 17 8726721 8726721 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:8726721G>A ENST00000311434.9 - 14 1848 c.1609C>T c.(1609-1611)Cag>Tag p.Q537* PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 537 platelet activation cytosol GTGTAGATCTGGAAATAGATG 0.557000 7 17 0 0 0.001984 0 0 UNC5C 8633 broad.mit.edu 37 4 96256715 96256715 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:96256715G>A ENST00000453304.1 - 2 540 c.192C>T c.(190-192)ttC>ttT p.F64F UNC5C_ENST00000506749.1_Silent_p.F64F|UNC5C_ENST00000504962.1_Silent_p.F64F NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 64 Ig-like. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCTCAATAAGGAAATGTGGCA 0.413000 8 19 0 0 0.003080 0 0 MYH4 4622 broad.mit.edu 37 17 10362577 10362577 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10362577G>A ENST00000255381.2 - 15 1688 c.1578C>T c.(1576-1578)ctC>ctT p.L526L CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 526 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 CCTTCTCGATGAGCTCGATGC 0.478000 22 55 0 0 0.003954 0 0 PLCL2 23228 broad.mit.edu 37 3 17052090 17052090 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:17052090G>A ENST00000418129.2 + 2 1339 c.874G>A c.(874-876)Gat>Aat p.D292N PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.D292N|PLCL2_ENST00000432376.1_Missense_Mutation_p.D292N NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 418 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TTATATATTCGATCCAGAACA 0.388000 31 43 0 0 0.002445 0 0 ADCY5 111 broad.mit.edu 37 3 123019094 123019094 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:123019094G>A ENST00000462833.1 - 15 3985 c.2773C>T c.(2773-2775)Ctg>Ttg p.L925L ADCY5_ENST00000309879.5_Silent_p.L575L|ADCY5_ENST00000491190.1_Silent_p.L558L NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 925 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) CTGATCTGCAGGAACACGGAG 0.642000 7 27 0 0 0.004482 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655068 31655068 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:31655068G>A ENST00000340345.4 - 1 208 c.183C>T c.(181-183)tgC>tgT p.C61C NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 61 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 AGGATTCTTGGCAGTAATCCA 0.512000 24 49 0 0 0.006320 0 0 TAGAP 117289 broad.mit.edu 37 6 159462504 159462504 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:159462504C>T ENST00000367066.3 - 6 690 c.359G>A c.(358-360)gGg>gAg p.G120E TAGAP_ENST00000338313.5_Missense_Mutation_p.G120E|RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_5'UTR|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 120 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) CCTGAATATCCCTTCCGTTGA 0.502000 8 35 0 0 0.003080 0 0 TTC39A 22996 broad.mit.edu 37 1 51787445 51787445 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:51787445C>T ENST00000262676.5 - 2 245 c.85G>A c.(85-87)Gac>Aac p.D29N TTC39A_ENST00000413473.2_Missense_Mutation_p.D36N|TTC39A_ENST00000451380.1_Missense_Mutation_p.D32N|TTC39A_ENST00000447632.2_Missense_Mutation_p.D33N|TTC39A_ENST00000262675.7_Missense_Mutation_p.D5N|TTC39A_ENST00000371750.5_Missense_Mutation_p.D33N|TTC39A_ENST00000371747.3_Missense_Mutation_p.D32N Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A 33 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 AGGAAGAGGTCCAGGGCGGTC 0.632000 10 25 0 0 0.008291 0 0 MCHR2 84539 broad.mit.edu 37 6 100369011 100369011 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:100369011C>T ENST00000281806.2 - 6 1142 c.828G>A c.(826-828)caG>caA p.Q276Q MCHR2_ENST00000445970.1_Silent_p.Q276Q|MCHR2_ENST00000369212.1_Silent_p.Q276Q NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 276 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 39 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) GCTGTTCCATCTGTAAGTTCA 0.473000 17 46 0 0 0.004990 0 0 KCND2 3751 broad.mit.edu 37 7 120382645 120382645 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:120382645G>A ENST00000331113.4 + 4 2421 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 486 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TCACTGCCTGGAAAAAACCAC 0.473000 20 38 0 0 0.001882 0 0 AKR1D1 6718 broad.mit.edu 37 7 137801379 137801379 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:137801379C>T ENST00000242375.3 + 9 994 c.952C>T c.(952-954)Cct>Tct p.P318S AKR1D1_ENST00000411726.2_Missense_Mutation_p.P277S|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Missense_Mutation_p.S290F NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 318 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 GCGCGATCATCCTGAATACCC 0.448000 31 75 0 0 0.003271 0 0 RYR1 6261 broad.mit.edu 37 19 38976641 38976641 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:38976641C>T ENST00000355481.4 + 34 5477 c.5346C>T c.(5344-5346)ttC>ttT p.F1782F RYR1_ENST00000360985.3_Silent_p.F1782F|RYR1_ENST00000359596.3_Silent_p.F1782F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1782 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCCCCTGTTTCGTGGCCGCTC 0.682000 12 22 0 0 0.000978 0 0 LGMN 5641 broad.mit.edu 37 14 93178216 93178216 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:93178216C>T ENST00000393218.2 - 10 1032 c.695G>A c.(694-696)tGg>tAg p.W232* LGMN_ENST00000334869.4_Nonsense_Mutation_p.W232*|LGMN_ENST00000557434.1_Nonsense_Mutation_p.W232*|LGMN_ENST00000555699.1_Nonsense_Mutation_p.W232* NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 232 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) GACGCTGTACCAGTCCCCCAG 0.522000 15 23 0 0 0.003163 0 0 OR4C11 219429 broad.mit.edu 37 11 55371798 55371798 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55371798C>T ENST00000302231.4 - 1 76 c.52G>A c.(52-54)Gat>Aat p.D18N NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 CTCAAGGGATCCTGTGTTAAT 0.383000 17 12 0 0 0.004007 0 0 CIB3 117286 broad.mit.edu 37 19 16275555 16275555 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16275555C>T ENST00000269878.4 - 5 565 c.516G>A c.(514-516)atG>atA p.M172I CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Missense_Mutation_p.M123I NM_054113.2 NP_473454.1 Q96Q77 CIB3_HUMAN calcium and integrin binding family member 3 172 EF-hand 3. calcium ion binding p.M172I(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 CCCGGAGGATCATGTTCTGGA 0.572000 13 27 0 0 0.003163 0 0 PCLO 27445 broad.mit.edu 37 7 82546143 82546143 + Missense_Mutation SNP A A C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:82546143A>C ENST00000423517.2 - 7 11496 c.11159T>G c.(11158-11160)gTt>gGt p.V3720G PCLO_ENST00000437081.1_Missense_Mutation_p.V440G|PCLO_ENST00000333891.8_Missense_Mutation_p.V3720G NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3651 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 AGTTCTTTTAACTTTTTTCTG 0.383000 23 54 0 0 0.009535 0 0 MLH3 27030 broad.mit.edu 37 14 75515207 75515207 + Silent SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:75515207G>C ENST00000355774.2 - 2 1367 c.1152C>G c.(1150-1152)tcC>tcG p.S384S MLH3_ENST00000556740.1_Silent_p.S384S|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556257.1_Silent_p.S384S|MLH3_ENST00000238662.7_Silent_p.S384S NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 384 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TCCTCTCATCGGAAGTCACAC 0.328000 Mismatch excision repair (MMR) 6 20 0 0 0.001168 0 0 DSCR10 259234 broad.mit.edu 37 21 39580464 39580464 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:39580464G>A ENST00000432141.1 + 0 586 NR_027695.1 TTTCTGTGCAGAGCCATGCTC 0.547000 51 159 0 0 0.003610 0 0 CFAP54 144535 broad.mit.edu 37 12 97051840 97051840 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:97051840G>A ENST00000524981.3 + 4 634 c.634G>A c.(634-636)Gaa>Aaa p.E212K Q6ZTY8 CL063_HUMAN 186 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 GGAAAAATGGGAAACACTAGT 0.333000 9 31 0 0 0.006214 0 0 NRG1 3084 broad.mit.edu 37 8 32505585 32505585 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:32505585T>C ENST00000520502.2 + 1 349 c.349T>C c.(349-351)Tta>Cta p.L117L NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 0 Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCCTGGGGGGTTAGGCCAGGA 0.537000 19 54 0 0 0.008871 0 0 FER1L6 654463 broad.mit.edu 37 8 125047670 125047670 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:125047670C>A ENST00000522917.1 + 19 2645 c.2439C>A c.(2437-2439)caC>caA p.H813Q FER1L6_ENST00000399018.1_Missense_Mutation_p.H813Q|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 813 C2 3. integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) GCACCAATCACCCCCCATCTA 0.542000 7 27 0.00198382 0.00202284 0.001984 1 0 PAPPA2 60676 broad.mit.edu 37 1 176709186 176709186 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:176709186C>T ENST00000367662.3 + 14 5169 c.4005C>T c.(4003-4005)ttC>ttT p.F1335F NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1335 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATGTCCTTTTCCACCATACCA 0.483000 20 59 0 0 0.002299 0 0 GRID2 2895 broad.mit.edu 37 4 94690535 94690535 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:94690535C>T ENST00000282020.4 + 15 2793 c.2535C>T c.(2533-2535)tcC>tcT p.S845S GRID2_ENST00000510992.1_Silent_p.S750S NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 845 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TTGTCCTCTCCTGCTTCATAG 0.493000 14 36 0 0 0.003163 0 0 NPAP1 23742 broad.mit.edu 37 15 24922858 24922858 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:24922858G>A ENST00000329468.2 + 1 2318 c.1844G>A c.(1843-1845)gGa>gAa p.G615E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGGCACCCGGGAAAGACATCA 0.473000 17 52 0 0 0.006122 0 0 ATN1 1822 broad.mit.edu 37 12 7047862 7047862 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:7047862C>T ENST00000356654.4 + 7 2973 c.2736C>T c.(2734-2736)gaC>gaT p.D912D ATN1_ENST00000396684.2_Silent_p.D912D NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 912 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 GGGCAGTGGACCCGGGGCTCC 0.627000 30 86 0 0 0.007291 0 0 PIK3CG 5294 broad.mit.edu 37 7 106513233 106513233 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:106513233T>C ENST00000359195.3 + 4 2447 c.2137T>C c.(2137-2139)Ttc>Ctc p.F713L PIK3CG_ENST00000440650.2_Missense_Mutation_p.F713L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.F713L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 713 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TCAGCAGAGGTTCGCTGTGAT 0.458000 18 51 0 0 0.008871 0 0 SEC22B 9554 broad.mit.edu 37 1 145115983 145115983 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:145115983C>T ENST00000453618.1 + 0 1069 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TATTAGAATCCAAGTGGAACT 0.398000 8 56 0 0 0.003080 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40837285 40837285 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:40837285C>T ENST00000264638.4 + 5 779 c.562C>T c.(562-564)Ccg>Tcg p.P188S CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 188 axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) CTACCGCTTCCCGCGAGGGGT 0.647000 10 61 0 0 0.008291 0 0 TSHZ1 10194 broad.mit.edu 37 18 72997681 72997681 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:72997681T>A ENST00000322038.5 + 2 768 c.184T>A c.(184-186)Tcg>Acg p.S62T TSHZ1_ENST00000580243.1_Missense_Mutation_p.S107T NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 107 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) CGACAGCGTCTCGTACCCCCA 0.557000 12 19 0 0 0.000978 0 0 TULP1 7287 broad.mit.edu 37 6 35478719 35478719 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:35478719G>A ENST00000229771.6 - 5 497 c.418C>T c.(418-420)Ctt>Ttt p.L140F TULP1_ENST00000322263.4_Missense_Mutation_p.L87F NM_003322.3 NP_003313.3 O00294 TULP1_HUMAN tubby like protein 1 140 dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse actin filament binding|phosphatidylinositol-4,5-bisphosphate binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 19 GGAGGCAGAAGGATTTTctct 0.577000 40 47 0 0 0.005524 0 0 LCE1A 353131 broad.mit.edu 37 1 152800131 152800131 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152800131C>T ENST00000335123.2 + 1 183 c.183C>T c.(181-183)agC>agT p.S61S NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 61 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCGGCTGCAGCTCTGGGGGAG 0.677000 6 48 0 0 0.001984 0 0 DDX43 55510 broad.mit.edu 37 6 74110016 74110016 + Silent SNP G G A rs140241372 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74110016G>A ENST00000370336.4 + 3 524 c.366G>A c.(364-366)acG>acA p.T122T DDX43_ENST00000539829.1_Silent_p.T122T NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 122 KH. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 CAATGCAAACGAAAGCAAAAG 0.353000 18 44 0 0 0.004990 0 0 CRB2 286204 broad.mit.edu 37 9 126128238 126128238 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:126128238C>T ENST00000373631.3 + 3 462 c.461C>T c.(460-462)cCc>cTc p.P154L CRB2_ENST00000359999.3_Missense_Mutation_p.P154L NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 154 EGF-like 3; calcium-binding (Potential). extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GCCTCAGCGCCCTGCCTGCAC 0.701000 8 26 0 0 0.006214 0 0 GLI1 2735 broad.mit.edu 37 12 57865553 57865553 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:57865553C>T ENST00000228682.2 + 12 3121 c.3030C>T c.(3028-3030)agC>agT p.S1010S GLI1_ENST00000546141.1_Silent_p.S969S|GLI1_ENST00000543426.1_Silent_p.S882S NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 1010 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CAAACCCCAGCTGTGGTCATC 0.587000 30 69 0 0 0.002096 0 0 ZPBP 11055 broad.mit.edu 37 7 49977183 49977183 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:49977183C>T ENST00000046087.2 - 8 1066 c.997G>A c.(997-999)Gga>Aga p.G333R ZPBP_ENST00000419417.1_Missense_Mutation_p.G332R|ZPBP_ENST00000491129.1_Intron NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 333 binding of sperm to zona pellucida extracellular region NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) CAATGAATTCCATCACGGGGG 0.353000 17 49 0 0 0.008871 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21790049 21790049 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:21790049G>A ENST00000206660.6 + 13 1648 c.1648G>A c.(1648-1650)Gat>Aat p.D550N RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D523N|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D192N|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D523N|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D550N Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 550 response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) AGCTGACAATGATAATAGAGA 0.383000 6 15 0 0 0.001168 0 0 APOA1 335 broad.mit.edu 37 11 116707761 116707761 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:116707761G>A ENST00000236850.4 - 3 521 c.156C>T c.(154-156)gaC>gaT p.D52D APOA1_ENST00000359492.2_Silent_p.D52D|APOA1_ENST00000375323.1_Silent_p.D52D|APOA1_ENST00000375320.1_Silent_p.D52D|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375329.2_Intron NM_000039.1 NP_000030.1 P02647 APOA1_HUMAN apolipoprotein A-I 52 Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2) 9 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GGGACACATAGTCTCTGCCGC 0.592000 107 237 0 0 0.003610 0 0 EFR3A 23167 broad.mit.edu 37 8 132996524 132996524 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:132996524A>G ENST00000254624.5 + 15 1939 c.1714A>G c.(1714-1716)Att>Gtt p.I572V EFR3A_ENST00000334503.4_Missense_Mutation_p.I572V|EFR3A_ENST00000519656.1_Missense_Mutation_p.I536V NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 572 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) TATTGATCTCATTCGACTGGC 0.348000 22 53 0 0 0.002780 0 0 TMEM135 65084 broad.mit.edu 37 11 87032329 87032329 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:87032329C>T ENST00000340353.7 + 14 1467 c.1265C>T c.(1264-1266)cCa>cTa p.P422L TMEM135_ENST00000535167.1_Missense_Mutation_p.P305L|TMEM135_ENST00000532959.1_Missense_Mutation_p.P315L|TMEM135_ENST00000305494.5_Missense_Mutation_p.P444L NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 444 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGGTTGGATCCAAGATACACA 0.373000 7 31 0 0 0.006214 0 0 ASAP3 55616 broad.mit.edu 37 1 23769057 23769057 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:23769057G>A ENST00000336689.3 - 6 566 c.522C>T c.(520-522)atC>atT p.I174I ASAP3_ENST00000437606.2_Silent_p.I165I NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 174 regulation of ARF GTPase activity cytoplasm ARF GTPase activator activity|zinc ion binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 24 CCTCCCCAGGGATCCCTCCTG 0.627000 8 31 0 0 0.003080 0 0 RSPO2 340419 broad.mit.edu 37 8 108970434 108970434 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:108970434C>T ENST00000276659.5 - 5 1110 c.490G>A c.(490-492)Gga>Aga p.G164R RSPO2_ENST00000517781.1_Missense_Mutation_p.G100R|RSPO2_ENST00000378439.2_Missense_Mutation_p.G100R|RSPO2_ENST00000517939.1_Missense_Mutation_p.G97R NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 164 TSP type-1. Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CATTTAAATCCACATGTGCGA 0.388000 10 34 0 0 0.008291 0 0 OR1D5 8386 broad.mit.edu 37 17 2966263 2966263 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:2966263G>A ENST00000575751.1 - 1 638 c.639C>T c.(637-639)ttC>ttT p.F213F NM_014566.1 NP_055381.1 P58170 OR1D5_HUMAN olfactory receptor, family 1, subfamily D, member 5 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|lung(10) 11 ATGTGGTCATGAACCCTAAGG 0.493000 6 12 0 0 0.006214 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 5605943 5605943 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrY:5605943C>T ENST00000215473.6 + 6 3983 c.3983C>T c.(3982-3984)tCc>tTc p.S1328F Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 1328 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GCCAGACCGTCCAGAGGTGAT 0.383000 25 11 0 0 0.003330 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895345 45895345 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:45895345G>A ENST00000418234.2 - 8 1686 c.1608C>T c.(1606-1608)ccC>ccT p.P536P PPP1R13L_ENST00000360957.5_Silent_p.P536P NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 536 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TGTGGGTAGGGGGCAGGGCCA 0.682000 26 45 0 0 0.004656 0 0 NHLRC3 387921 broad.mit.edu 37 13 39613751 39613751 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:39613751C>T ENST00000379600.3 + 3 610 c.288C>T c.(286-288)ttC>ttT p.F96F NHLRC3_ENST00000470258.1_5'UTR|NHLRC3_ENST00000379599.2_Silent_p.F96F NM_001012754.2 NP_001012772.1 Q5JS37 NHLC3_HUMAN NHL repeat containing 3 96 extracellular region breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2) 11 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128) ATGGATATTTCCTACGAGCCT 0.398000 15 29 0 0 0.003163 0 0 THSD7B 80731 broad.mit.edu 37 2 138169301 138169301 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:138169301C>T ENST00000409968.1 + 14 2996 c.2818C>T c.(2818-2820)Cca>Tca p.P940S THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P909S|THSD7B_ENST00000272643.3_Missense_Mutation_p.P940S thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTGCATTCTTCCAGAAGGCAG 0.483000 30 45 0 0 0.009535 0 0 MAP3K11 4296 broad.mit.edu 37 11 65367008 65367008 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:65367008G>A ENST00000309100.3 - 9 2548 c.2063C>T c.(2062-2064)aCc>aTc p.T688I MAP3K11_ENST00000530153.1_Missense_Mutation_p.T431I|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000532507.1_Missense_Mutation_p.T104I NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 688 Pro-rich. activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 GGGCGGCTCGGTCGGGCAGGG 0.741000 23 40 0 0 0.004656 0 0 CES3 23491 broad.mit.edu 37 16 67000697 67000697 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:67000697G>A ENST00000303334.4 + 8 1062 c.991G>A c.(991-993)Gag>Aag p.E331K CES3_ENST00000394037.1_Missense_Mutation_p.E331K NM_024922.5 NP_079198.2 Q6UWW8 EST3_HUMAN carboxylesterase 3 331 endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 24 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127) ACTCCTGAAGGAGAAGCCCTT 0.542000 33 209 0 0 0.004289 0 0 NCBP2L 392517 broad.mit.edu 37 X 107037766 107037766 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:107037766G>A ENST00000372379.1 + 1 316 c.316G>A c.(316-318)Gaa>Aaa p.E106K nuclear cap binding protein subunit 2-like large_intestine(1)|lung(2)|skin(1)|urinary_tract(1) 5 CTGCCTAGATGAATGGATTAT 0.438000 22 14 0 0 0.004656 0 0 GPR158 57512 broad.mit.edu 37 10 25755615 25755615 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:25755615G>A ENST00000376351.3 + 5 1730 c.1371G>A c.(1369-1371)acG>acA p.T457T NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 457 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 TGTTGGAAACGATCCTTTTTG 0.338000 12 24 0 0 0.001855 0 0 ASTN2 23245 broad.mit.edu 37 9 119903608 119903608 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:119903608G>A ENST00000313400.4 - 4 1265 c.1165C>T c.(1165-1167)Cga>Tga p.R389* ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Nonsense_Mutation_p.R389* O75129 ASTN2_HUMAN astrotactin 2 389 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGCCTACCTCGAGACTTGCTC 0.577000 10 24 0 0 0.001368 0 0 ESPL1 9700 broad.mit.edu 37 12 53663155 53663155 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53663155G>A ENST00000257934.4 + 3 520 c.429G>A c.(427-429)gtG>gtA p.V143V ESPL1_ENST00000552462.1_Silent_p.V143V NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 143 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 ATGAGGCCGTGGCTCGGGGCA 0.622000 20 40 0 0 0.010504 0 0 MAPT 4137 broad.mit.edu 37 17 44060998 44060998 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:44060998C>T ENST00000344290.5 + 6 1150 c.828C>T c.(826-828)tcC>tcT p.S276S MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000262410.5_Silent_p.S276S|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Silent_p.S276S|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000571987.1_Silent_p.S276S|MAPT_ENST00000574436.1_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 276 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) CCAAAGTTTCCACAGAGATCC 0.642000 7 55 0 0 0.006214 0 0 CLGN 1047 broad.mit.edu 37 4 141317007 141317007 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:141317007C>T ENST00000325617.5 - 10 1555 c.1115G>A c.(1114-1116)tGg>tAg p.W372* CLGN_ENST00000537281.1_Nonsense_Mutation_p.W372*|CLGN_ENST00000414773.1_Nonsense_Mutation_p.W372* NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 372 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TGGAGGTCTCCATACTCCTTT 0.398000 9 36 0 0 0.004482 0 0 INTS2 57508 broad.mit.edu 37 17 59945003 59945003 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:59945003C>T ENST00000444766.3 - 25 3605 c.3530G>A c.(3529-3531)gGa>gAa p.G1177E INTS2_ENST00000251334.6_Missense_Mutation_p.G1169E NM_020748.2 NP_065799.1 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1177 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 38 ATCCATGCTTCCAGTGTCCCT 0.333000 15 46 0 0 0.003163 0 0 PI4KA 5297 broad.mit.edu 37 22 21088122 21088122 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:21088122G>A ENST00000255882.6 - 35 4148 c.4062C>T c.(4060-4062)acC>acT p.T1354T PI4KA_ENST00000572273.1_Silent_p.T1296T|PI4KA_ENST00000414196.3_Silent_p.T106T NM_058004.3 NP_477352.3 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase, catalytic, alpha 1296 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 79 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) ACAGCCCCAGGGTCAGCAGCC 0.587000 23 54 0 0 0.003954 0 0 GRIA2 2891 broad.mit.edu 37 4 158224908 158224908 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:158224908G>A ENST00000296526.7 + 3 759 c.434G>A c.(433-435)tGg>tAg p.W145* GRIA2_ENST00000264426.9_Nonsense_Mutation_p.W145*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W98*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W98*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W98* NM_000826.3 NP_000817.2 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 145 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TACTATCAATGGGACAAGTTT 0.438000 30 66 0 0 0.007291 0 0 ERC2 26059 broad.mit.edu 37 3 56330430 56330430 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:56330430C>T ENST00000288221.6 - 3 946 c.691G>A c.(691-693)Gag>Aag p.E231K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 231 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GTTCGCAGCTCATCTTGAAGG 0.512000 15 36 0 0 0.002450 0 0 RNF180 285671 broad.mit.edu 37 5 63509989 63509989 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:63509989C>T ENST00000389100.4 + 4 908 c.836C>T c.(835-837)tCc>tTc p.S279F RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.S279F NM_001113561.1 NP_001107033.1 Q86T96 RN180_HUMAN ring finger protein 180 279 integral to membrane|nuclear envelope zinc ion binding breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234) Lung(70;0.114) AATAGCTATTCCTTTCAGAAT 0.403000 15 41 0 0 0.006122 0 0 RAB27B 5874 broad.mit.edu 37 18 52544930 52544930 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:52544930C>T ENST00000262094.5 + 2 635 c.114C>T c.(112-114)ttC>ttT p.F38F RAB27B_ENST00000586594.1_3'UTR NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family 38 protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) ATCCCAAATTCATCACTACAG 0.378000 10 26 0 0 0.001368 0 0 PLCG1 5335 broad.mit.edu 37 20 39792111 39792111 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:39792111C>T ENST00000373272.2 + 9 1288 c.883C>T c.(883-885)Ctg>Ttg p.L295L PLCG1_ENST00000373271.1_Silent_p.L295L|PLCG1_ENST00000244007.3_Silent_p.L295L NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 295 activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) ATACTTCTTCCTGGATGAGGT 0.567000 11 27 0 0 0.000978 0 0 DOCK1 1793 broad.mit.edu 37 10 128830008 128830008 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:128830008C>T ENST00000280333.6 + 17 1765 c.1656C>T c.(1654-1656)atC>atT p.I552I NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 552 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) ACGATCTTATCGTCTATAAGG 0.438000 21 32 0 0 0.002780 0 0 ASXL3 80816 broad.mit.edu 37 18 31323829 31323829 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:31323829C>T ENST00000269197.5 + 12 4017 c.4017C>T c.(4015-4017)acC>acT p.T1339T NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1339 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CTCAGTACACCTCTGTGCCAA 0.463000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 115 0 0 0.008740 0 0 SLC19A2 10560 broad.mit.edu 37 1 169446660 169446660 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:169446660G>A ENST00000236137.5 - 2 776 c.540C>T c.(538-540)gtC>gtT p.V180V SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Silent_p.V180V NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 180 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) CTGCCACTGAGACAAGGATTT 0.512000 10 27 0 0 0.008291 0 0 UBE2V2 7336 broad.mit.edu 37 8 48962467 48962467 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:48962467C>A ENST00000523111.2 + 3 275 c.220C>A c.(220-222)Cca>Aca p.P74T UBE2V2_ENST00000517630.1_Missense_Mutation_p.P34T|UBE2V2_ENST00000521346.1_Missense_Mutation_p.P34T|UBE2V2_ENST00000520809.1_Missense_Mutation_p.P34T NM_003350.2 NP_003341.1 Q15819 UB2V2_HUMAN ubiquitin-conjugating enzyme E2 variant 2 74 cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair cytoplasm|nucleus|UBC13-MMS2 complex acid-amino acid ligase activity|protein binding large_intestine(1)|lung(2) 3 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196) ACCTAAATACCCAGAAGCTCC 0.299000 Rad6 pathway 6 22 3.59834e-05 3.67877e-05 0.001168 1 0 ZNF366 167465 broad.mit.edu 37 5 71756160 71756160 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:71756160C>T ENST00000318442.5 - 2 1654 c.1164G>A c.(1162-1164)cgG>cgA p.R388R NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGATGGGGCCCCGGTGCGTGG 0.612000 14 33 0 0 0.001855 0 0 CPNE4 131034 broad.mit.edu 37 3 131404763 131404763 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:131404763G>A ENST00000512055.1 - 10 2673 c.547C>T c.(547-549)Cgt>Tgt p.R183C CPNE4_ENST00000502818.1_Missense_Mutation_p.R201C|CPNE4_ENST00000429747.1_Missense_Mutation_p.R183C|CPNE4_ENST00000512332.1_Missense_Mutation_p.R201C|CPNE4_ENST00000511604.1_Missense_Mutation_p.R183C Q96A23 CPNE4_HUMAN copine IV 183 C2 2. central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 39 TCATTCATACGAAAAATTTCC 0.383000 8 13 0 0 0.006214 0 0 C2orf53 339779 broad.mit.edu 37 2 27361021 27361021 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:27361021G>A ENST00000335524.3 - 3 702 c.177C>T c.(175-177)ccC>ccT p.P59P NM_178553.3 NP_848648.2 Q53SZ7 CB053_HUMAN chromosome 2 open reading frame 53 59 Pro-rich. cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGGGGAGGAGGGACGACGGG 0.567000 3 25 0 0 0.004672 0 0 IL36B 27177 broad.mit.edu 37 2 113786542 113786542 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:113786542G>A ENST00000259213.4 - 4 342 c.235C>T c.(235-237)Cag>Tag p.Q79* IL36B_ENST00000327407.2_Nonsense_Mutation_p.Q79* NM_014438.3 NP_055253.2 Q9NZH7 IL36B_HUMAN interleukin 36, beta 79 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 GGCTTGCCCTGAATTTCTGCA 0.398000 21 41 0 0 0.005443 0 0 UCK1 83549 broad.mit.edu 37 9 134404656 134404656 + Splice_Site SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:134404656A>G ENST00000372215.4 - 4 460 c.365_splice c.e4-1 p.L123_splice UCK1_ENST00000372210.3_Splice_Site_p.L114_splice|UCK1_ENST00000372208.3_Splice_Site_p.L123_splice|UCK1_ENST00000372211.3_Splice_Site_p.L128_splice|UCK1_ENST00000459858.1_5'UTR NM_001261450.1|NM_001261451.1|NM_031432.2 NP_001248379.1|NP_001248380.1|NP_113620.1 Q9HA47 UCK1_HUMAN uridine-cytidine kinase 1 123 pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219) GTCTCTGGTAACCTGAGGGGC 0.602000 6 27 0 0 0.001168 0 0 USH2A 7399 broad.mit.edu 37 1 215847677 215847677 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:215847677G>A ENST00000366943.2 - 63 13962 c.13576C>T c.(13576-13578)Cga>Tga p.R4526* USH2A_ENST00000307340.3_Nonsense_Mutation_p.R4526* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4526 Fibronectin type-III 30. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGGCTGGTTCGATCTTTGACA 0.517000 HNSCC(13;0.011) 26 59 0 0 0.004656 0 0 ABCC6 368 broad.mit.edu 37 16 16267237 16267237 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:16267237C>T ENST00000205557.7 - 21 2720 c.2691G>A c.(2689-2691)aaG>aaA p.K897K NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 897 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) TGGTACGGTCCTTCTCAGGGA 0.532000 10 46 0 0 0.006214 0 0 C9orf171 389799 broad.mit.edu 37 9 135413046 135413046 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:135413046G>A ENST00000343036.2 + 5 739 c.691G>A c.(691-693)Gaa>Aaa p.E231K C9orf171_ENST00000393216.2_Missense_Mutation_p.E195K NM_207417.1 NP_997300.1 Q6ZQR2 CI171_HUMAN chromosome 9 open reading frame 171 231 large_intestine(7)|lung(9)|ovary(4)|prostate(3) 23 GTGGGTACAGGAACAAAAGGC 0.552000 22 65 0 0 0.002299 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45945705 45945705 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:45945705G>A ENST00000531526.1 + 4 480 c.368_splice c.e4-1 p.R123_splice GYLTL1B_ENST00000325468.5_Splice_Site_p.R123_splice|GYLTL1B_ENST00000389968.3_5'UTR|GYLTL1B_ENST00000536139.1_Splice_Site_p.R92_splice|GYLTL1B_ENST00000401752.1_Splice_Site_p.R123_splice|GYLTL1B_ENST00000529052.1_Splice_Site_p.R92_splice NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 123 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) CACCCAAAAGGAAAAATCCAC 0.597000 17 25 0 0 0.007413 0 0 SCN11A 11280 broad.mit.edu 37 3 38889158 38889158 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38889158G>A ENST00000302328.3 - 26 4601 c.4403C>T c.(4402-4404)gCt>gTt p.A1468V SCN11A_ENST00000456224.3_Missense_Mutation_p.A1430V|SCN11A_ENST00000450244.1_Missense_Mutation_p.A1468V NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 1468 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GCCAATCCGAGCCAAGCGGAC 0.488000 5 16 0 0 0.001168 0 0 ACOXL 55289 broad.mit.edu 37 2 111789215 111789215 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:111789215G>A ENST00000389811.4 + 16 1607 c.1383G>A c.(1381-1383)aaG>aaA p.K461K ACOXL_ENST00000439055.1_Silent_p.K431K Q9NUZ1 ACOXL_HUMAN acyl-CoA oxidase-like 461 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TAAAGACCAAGAAGGAGGATT 0.453000 16 28 0 0 0.006122 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428151 128428151 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:128428151C>T ENST00000465342.2 + 2 1197 c.40C>T c.(40-42)Cct>Tct p.P14S CASC8_ENST00000502082.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.P14S|CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 14 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 CTTCTCGCCCCCTCCAGGCGG 0.632000 4 1 0 0 0.009096 0 0 OBSCN 84033 broad.mit.edu 37 1 228473858 228473858 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228473858C>T ENST00000570156.2 + 39 10445 c.10371C>T c.(10369-10371)atC>atT p.I3457I OBSCN_ENST00000359599.6_Silent_p.I1875I|OBSCN_ENST00000366707.4_Silent_p.I147I|OBSCN_ENST00000284548.11_Silent_p.I3028I|OBSCN_ENST00000422127.1_Silent_p.I3028I|OBSCN_ENST00000366709.4_Silent_p.I147I NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2492 Ig-like 35. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GTTGCCGGATCTCCCCGGCCA 0.627000 6 10 0 0 0.001168 0 0 ZFHX4 79776 broad.mit.edu 37 8 77617294 77617294 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:77617294G>A ENST00000521891.2 + 2 1419 c.971G>A c.(970-972)gGg>gAg p.G324E ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G324E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G324E|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G324E NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 324 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATAATACAGGGGATTGGCAAA 0.433000 HNSCC(33;0.089) 15 46 0 0 0.004990 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204226948 204226948 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:204226948G>A ENST00000272203.3 - 9 1373 c.1057C>T c.(1057-1059)Ccc>Tcc p.P353S PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P373S NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 353 Pro-rich. breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) GAGGAGTAGGGGCCATAGTAC 0.587000 18 45 0 0 0.006122 0 0 SYNE4 163183 broad.mit.edu 37 19 36494300 36494300 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:36494300G>A ENST00000324444.3 - 8 1265 c.1154C>T c.(1153-1155)gCc>gTc p.A385V SYNE4_ENST00000340477.5_Missense_Mutation_p.A272V NM_001039876.1 NP_001034965.1 spectrin repeat containing, nuclear envelope family member 4 GGGTATTCGGGCATGAGAGCA 0.552000 3 15 0 0 0.004672 0 0 GALR1 2587 broad.mit.edu 37 18 74980684 74980684 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:74980684G>A ENST00000299727.3 + 3 876 c.876G>A c.(874-876)gcG>gcA p.A292A NM_001480.3 NP_001471.2 P47211 GALR1_HUMAN galanin receptor 1 292 digestion|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104) ACTGCCTGGCGTACAGCAATT 0.493000 22 38 0 0 0.001882 0 0 BCL11A 53335 broad.mit.edu 37 2 60688266 60688266 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:60688266G>A ENST00000335712.6 - 4 2008 c.1781C>T c.(1780-1782)tCg>tTg p.S594L BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.S263L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.S560L|BCL11A_ENST00000356842.4_Missense_Mutation_p.S594L|BCL11A_ENST00000538214.1_Missense_Mutation_p.S560L NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 594 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TATGCGGTCCGACTCGCCGGC 0.692000 T IGH@ B-CLL 55 108 0 0 0.003610 0 0 ENPP6 133121 broad.mit.edu 37 4 185038029 185038029 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:185038029C>T ENST00000296741.2 - 5 976 c.835G>A c.(835-837)Gcc>Acc p.A279T NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 279 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) TTCCCAGGGGCCGGCCAAAGG 0.562000 9 64 0 0 0.006214 0 0 KBTBD2 25948 broad.mit.edu 37 7 32909132 32909132 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:32909132T>A ENST00000304056.4 - 4 2396 c.1697A>T c.(1696-1698)cAt>cTt p.H566L AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 566 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TTCAGATATATGCTGCCGCAG 0.478000 26 56 0 0 0.003954 0 0 FGD3 89846 broad.mit.edu 37 9 95780429 95780429 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:95780429C>T ENST00000375482.3 + 11 1783 c.1287C>T c.(1285-1287)atC>atT p.I429I FGD3_ENST00000538555.1_Silent_p.I32I|FGD3_ENST00000337352.6_Silent_p.I429I|FGD3_ENST00000416701.2_Silent_p.I429I NM_001083536.1 NP_001077005.1 Q5JSP0 FGD3_HUMAN FYVE, RhoGEF and PH domain containing 3 429 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1) 17 TGCAGGATATCGTCAAGCCAA 0.463000 16 51 0 0 0.001882 0 0 SCN3A 6328 broad.mit.edu 37 2 166003341 166003341 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166003341C>T ENST00000360093.3 - 12 2070 c.1579G>A c.(1579-1581)Gaa>Aaa p.E527K SCN3A_ENST00000409101.3_Missense_Mutation_p.E527K|SCN3A_ENST00000283254.7_Missense_Mutation_p.E527K NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 527 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) TCTTCAGATTCGGATTTGGGA 0.438000 24 75 0 0 0.003954 0 0 C6 729 broad.mit.edu 37 5 41159280 41159280 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41159280C>T ENST00000263413.3 - 12 2024 c.1760G>A c.(1759-1761)cGa>cAa p.R587Q C6_ENST00000337836.5_Missense_Mutation_p.R587Q NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 587 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) ATTGCATTCTCGGGTTCTCGA 0.493000 23 44 0 0 0.002299 0 0 PDLIM5 10611 broad.mit.edu 37 4 95506861 95506861 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:95506861C>T ENST00000317968.4 + 6 992 c.856C>T c.(856-858)Ctt>Ttt p.L286F PDLIM5_ENST00000538141.1_Missense_Mutation_p.L163F|PDLIM5_ENST00000508216.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000318007.5_Missense_Mutation_p.L163F|PDLIM5_ENST00000542407.1_Missense_Mutation_p.L164F|PDLIM5_ENST00000380180.3_Missense_Mutation_p.L183F|PDLIM5_ENST00000450793.1_Missense_Mutation_p.L183F|PDLIM5_ENST00000437932.1_Missense_Mutation_p.L177F NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 286 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) TTTCCGAATCCTTGCCCAGAT 0.468000 8 33 0 0 0.006214 0 0 TENM4 26011 broad.mit.edu 37 11 78413036 78413036 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:78413036G>A ENST00000278550.7 - 28 5084 c.4622C>T c.(4621-4623)tCc>tTc p.S1541F NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CACAGCCAAGGAAGATGGGGT 0.502000 8 23 0 0 0.003080 0 0 TAP2 6891 broad.mit.edu 37 6 32798510 32798510 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32798510C>T ENST00000374897.2 - 8 1477 c.1346G>A c.(1345-1347)cGa>cAa p.R449Q TAP2_ENST00000374899.4_Missense_Mutation_p.R449Q|TAP2_ENST00000452392.2_Missense_Mutation_p.R449Q NM_000544.3 NP_000535.3 Q03519 TAP2_HUMAN transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 449 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity nucleus|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding ATTTGGCTGTCGGTCCATGTA 0.542000 8 20 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179576943 179576943 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179576943G>A ENST00000589042.1 - 96 27838 c.27614C>T c.(27613-27615)cCg>cTg p.P9205L TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P7961L|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P8888L|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8888 Ig-like 75. 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) GACAAAATACGGTGGTTCTGC 0.448000 15 53 0 0 0.004007 0 0 KCNIP4 80333 broad.mit.edu 37 4 21950252 21950252 + Translation_Start_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:21950252C>T ENST00000382152.2 - 1 170 c.3G>A c.(1-3)atG>atA p.M1I KCNIP4_ENST00000447367.2_Start_Codon_SNP_p.M1I NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 1 plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TCCTCACATTCATGTCTAGGG 0.667000 8 16 0 0 0.006214 0 0 TDRD5 163589 broad.mit.edu 37 1 179599910 179599910 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:179599910T>C ENST00000444136.1 + 7 1231 c.981T>C c.(979-981)ttT>ttC p.F327F TDRD5_ENST00000367614.1_Silent_p.F327F|TDRD5_ENST00000294848.8_Silent_p.F327F NM_001199085.1|NM_001199089.1 NP_001186014.1|NP_001186018.1 Q8NAT2 TDRD5_HUMAN tudor domain containing 5 327 Lotus/OST-HTH 3. DNA methylation involved in gamete generation|P granule organization|spermatid development chromatoid body|pi-body nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 77 AGGTAATTTTTAAAGAGCAAC 0.328000 13 22 0 0 0.001855 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334064 39334064 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:39334064G>A ENST00000377726.2 - 1 396 c.353C>T c.(352-354)cCc>cTc p.P118L NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 118 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) ACAGCAGCTGGGGCGGTAGCA 0.612000 63 60 0 0 0.003610 0 0 OR4A16 81327 broad.mit.edu 37 11 55111335 55111335 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55111335T>C ENST00000314721.2 + 1 709 c.659T>C c.(658-660)cTa>cCa p.L220P NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 220 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 GGAGTCATCCTAAACTTCCTT 0.438000 21 62 0 0 0.002780 0 0 TRBJ2-2 28628 broad.mit.edu 37 7 142494277 142494277 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142494277C>T ENST00000390413.1 + 0 34 GGAGAAGGCTCTAGGCTGACC 0.657000 12 27 0 0 0.003163 0 0 MAP3K9 4293 broad.mit.edu 37 14 71216739 71216739 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:71216739C>T ENST00000554752.2 - 4 1060 c.1061G>A c.(1060-1062)gGc>gAc p.G354D MAP3K9_ENST00000553414.1_Missense_Mutation_p.G48D|MAP3K9_ENST00000554146.1_Missense_Mutation_p.G91D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.G354D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.G354D P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 354 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GACTGCTAAGCCATCAATGCC 0.488000 9 39 0 0 0.006214 0 0 OR51I1 390063 broad.mit.edu 37 11 5462652 5462652 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5462652C>T ENST00000380211.1 - 1 92 c.93G>A c.(91-93)ctG>ctA p.L31L HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCAGAAAATCAGGGCAACCC 0.537000 17 49 0 0 0.004990 0 0 CELSR1 9620 broad.mit.edu 37 22 46765589 46765589 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:46765589G>A ENST00000262738.3 - 26 7871 c.7872_splice c.e26+1 p.I2624_splice NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 2624 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCACACTCACGATTATAACAG 0.622000 11 26 0 0 0.000978 0 0 PIPOX 51268 broad.mit.edu 37 17 27383203 27383203 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:27383203C>T ENST00000323372.4 + 8 1379 c.1053C>T c.(1051-1053)ttC>ttT p.F351F PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 351 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) GGCACGGGTTCAAGCTGGCCC 0.522000 15 42 0 0 0.004007 0 0 RASAL3 64926 broad.mit.edu 37 19 15574876 15574876 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15574876C>T ENST00000343625.6 - 2 374 c.294G>A c.(292-294)ccG>ccA p.P98P NM_022904.1 NP_075055.1 Q86YV0 RASL3_HUMAN RAS protein activator like 3 98 Pro-rich. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity p.P98P(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1) 18 GGTCTGGCTCCGGCGGTGGGT 0.657000 10 19 0 0 0.000978 0 0 OR4K1 79544 broad.mit.edu 37 14 20404300 20404300 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20404300C>T ENST00000285600.4 + 1 534 c.475C>T c.(475-477)Cac>Tac p.H159Y NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 159 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTCTGTGAGCCACTTGGCTTT 0.478000 17 44 0 0 0.004990 0 0 CASZ1 54897 broad.mit.edu 37 1 10713648 10713648 + Silent SNP A A C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:10713648A>C ENST00000377022.3 - 11 2783 c.2466T>G c.(2464-2466)ggT>ggG p.G822G CASZ1_ENST00000344008.5_Silent_p.G822G|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 822 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) ACGACACGGCACCCAGGAGGC 0.711000 14 21 0 0 0.002450 0 0 ASB15 142685 broad.mit.edu 37 7 123269216 123269216 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:123269216G>A ENST00000451558.1 + 12 1689 c.1168G>A c.(1168-1170)Gcc>Acc p.A390T ASB15_ENST00000451215.1_Missense_Mutation_p.A390T|ASB15_ENST00000540573.1_Missense_Mutation_p.A390T|ASB15_ENST00000275699.3_Missense_Mutation_p.A390T|ASB15_ENST00000434204.1_Missense_Mutation_p.A390T Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box containing 15 390 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 TGCAGTGAGGGCCAATAATTA 0.438000 9 43 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179599705 179599705 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179599705G>A ENST00000589042.1 - 51 15170 c.14946C>T c.(14944-14946)tcC>tcT p.S4982S TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Silent_p.S3738S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.S4665S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4665 Ig-like 30. 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) TCTTCACGAAGGATGGTGGCT 0.423000 3 7 0 0 0.004672 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148968090 148968090 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:148968090G>A ENST00000336498.3 + 20 2154 c.1915G>A c.(1915-1917)Gac>Aac p.D639N ARHGAP10_ENST00000414545.2_Missense_Mutation_p.D288N NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 639 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CAGCAGTCTGGACTCACTTTC 0.507000 17 47 0 0 0.007413 0 0 TNIP2 79155 broad.mit.edu 37 4 2746569 2746569 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:2746569G>A ENST00000510267.1 - 4 867 c.440C>T c.(439-441)cCc>cTc p.P147L TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Missense_Mutation_p.P254L NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 254 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CATCAGCTCGGGCTCGTGGGG 0.597000 12 39 0 0 0.001368 0 0 ACE 1636 broad.mit.edu 37 17 61558997 61558997 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:61558997C>T ENST00000290866.4 + 7 1040 c.1016C>T c.(1015-1017)cCt>cTt p.P339L ACE_ENST00000538928.1_Missense_Mutation_p.P339L|ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.P339L NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 339 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TCCCCCATGCCTCCCGAGTTC 0.642000 13 44 0 0 0.001855 0 0 OR2M5 127059 broad.mit.edu 37 1 248308834 248308834 + Missense_Mutation SNP C C T rs150844237 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:248308834C>T ENST00000366476.1 + 1 385 c.385C>T c.(385-387)Cct>Tct p.P129S NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CATTTGCCACCCTCTAAGATA 0.443000 46 160 0 0 0.003610 0 0 VPS13A 23230 broad.mit.edu 37 9 79933473 79933473 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:79933473C>T ENST00000360280.3 + 41 5539 c.5279C>T c.(5278-5280)tCc>tTc p.S1760F VPS13A_ENST00000376636.3_Missense_Mutation_p.S1721F|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.S1760F|VPS13A_ENST00000357409.5_Missense_Mutation_p.S1760F NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1760 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AACTGGAGTTCCCTAATAAAT 0.358000 8 19 0 0 0.003080 0 0 C1GALT1 56913 broad.mit.edu 37 7 7283232 7283232 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:7283232C>T ENST00000436587.2 + 4 1189 c.966C>T c.(964-966)ctC>ctT p.L322L C1GALT1_ENST00000223122.2_Silent_p.L322L NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 322 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TAGAATACCTCGTTTATCATC 0.353000 27 63 0 0 0.005443 0 0 FLT1 2321 broad.mit.edu 37 13 28877373 28877373 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:28877373C>T ENST00000282397.4 - 30 4199 c.3948G>A c.(3946-3948)agG>agA p.R1316R FLT1_ENST00000543394.1_Silent_p.R339R|FLT1_ENST00000540678.1_Silent_p.R534R NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 1316 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) ACGCGATTTTCCTTTCCAGCT 0.572000 21 35 0 0 0.002299 0 0 MST1R 4486 broad.mit.edu 37 3 49928029 49928029 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49928029G>A ENST00000296474.3 - 18 3726 c.3699C>T c.(3697-3699)atC>atT p.I1233I MST1R_ENST00000344206.4_Silent_p.I1184I NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 1233 Protein kinase. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCCTGTCCAGGATGTCGCGGG 0.552000 8 23 0 0 0.006214 0 0 MYH7B 57644 broad.mit.edu 37 20 33589805 33589805 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:33589805G>A ENST00000262873.7 + 42 5949 c.5857G>A c.(5857-5859)Gat>Aat p.D1953N NM_020884.3 NP_065935.2 A7E2Y1 MYH7B_HUMAN myosin, heavy chain 7B, cardiac muscle, beta 1911 membrane|myosin filament actin binding|ATP binding|motor activity NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 BRCA - Breast invasive adenocarcinoma(18;0.00691) GCACGAGCTGGATGATGCGGA 0.667000 14 26 0 0 0.002450 0 0 IL12RB1 3594 broad.mit.edu 37 19 18191674 18191674 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:18191674G>A ENST00000600835.1 - 5 680 c.377C>T c.(376-378)tCt>tTt p.S126F IL12RB1_ENST00000322153.6_Missense_Mutation_p.S126F|IL12RB1_ENST00000430026.2_Missense_Mutation_p.S126F|IL12RB1_ENST00000593993.1_Missense_Mutation_p.S126F P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 126 Fibronectin type-III 1. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CACCTCAGGAGACTTCTCTGT 0.582000 11 44 0 0 0.000978 0 0 CPZ 8532 broad.mit.edu 37 4 8602878 8602878 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8602878C>T ENST00000360986.4 + 3 324 c.150C>T c.(148-150)acC>acT p.T50T CPZ_ENST00000315782.6_Silent_p.T39T|CPZ_ENST00000506287.1_3'UTR|CPZ_ENST00000382480.2_5'UTR NM_001014447.2 NP_001014447.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 50 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding p.L48fs*58(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 AGCTCAGGACCTGCAGTGATG 0.632000 7 17 0 0 0.003080 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382377 41382377 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41382377G>A ENST00000377801.3 - 2 437 c.363C>T c.(361-363)gtC>gtT p.V121V PLCXD3_ENST00000328457.3_Silent_p.V121V Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X domain containing 3 121 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 GGCCTTCATTGACTTTGGCAC 0.433000 19 42 0 0 0.008871 0 0 FNBP4 23360 broad.mit.edu 37 11 47744803 47744803 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:47744803G>A ENST00000263773.5 - 15 2542 c.2530C>T c.(2530-2532)Ctt>Ttt p.L844F NM_015308.2 NP_056123.2 Q8N3X1 FNBP4_HUMAN formin binding protein 4 844 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 GCTGCTGGAAGGCTAACTGGT 0.458000 29 56 0 0 0.004289 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687255 68687255 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:68687255G>A ENST00000361320.4 + 2 1159 c.581G>A c.(580-582)cGa>cAa p.R194Q CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000433211.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 194 integral to membrane breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 41 AACCGGATCCGAAGTTTAGCC 0.468000 18 48 0 0 0.008871 0 0 MGAM 8972 broad.mit.edu 37 7 141708471 141708471 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:141708471G>A ENST00000475668.2 + 3 347 c.293G>A c.(292-294)cGa>cAa p.R98Q MGAM_ENST00000549489.2_Missense_Mutation_p.R98Q O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 98 P-type 1. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R98Q(3) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAATTGGAACGAATTAATTGC 0.403000 14 32 0 0 0.004007 0 0 NPY2R 4887 broad.mit.edu 37 4 156135434 156135434 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:156135434G>A ENST00000329476.3 + 2 832 c.343G>A c.(343-345)Gag>Aag p.E115K NPY2R_ENST00000506608.1_Missense_Mutation_p.E115K NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 115 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CTTAATGGGGGAGTGGAAAAT 0.512000 12 41 0 0 0.004007 0 0 CDHR2 54825 broad.mit.edu 37 5 176002512 176002512 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:176002512C>T ENST00000510636.1 + 10 1048 c.774C>T c.(772-774)acC>acT p.T258T CDHR2_ENST00000261944.5_Silent_p.T258T|CDHR2_ENST00000506348.1_Silent_p.T258T NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 258 Cadherin 3. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 TCCAGGGAACCTCGGTGCTGA 0.632000 24 60 0 0 0.005443 0 0 ZIM2 23619 broad.mit.edu 37 19 57293392 57293392 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:57293392G>A ENST00000391708.3 - 10 1117 c.575C>T c.(574-576)tCc>tTc p.S192F ZIM2_ENST00000601070.1_Missense_Mutation_p.S192F|ZIM2_ENST00000593711.1_Missense_Mutation_p.S192F|AC006115.3_ENST00000594400.1_RNA|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000221722.5_Missense_Mutation_p.S192F|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.S192F NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGCACTAAGGGAACTAAGTTC 0.502000 26 53 0 0 0.005443 0 0 CYP21A2 1589 broad.mit.edu 37 6 32006290 32006290 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32006290C>T ENST00000418967.2 + 1 249 c.91C>T c.(91-93)Ccg>Tcg p.P31S CYP21A2_ENST00000435122.2_Missense_Mutation_p.P31S NM_000500.7 NP_000491.4 P08686 CP21A_HUMAN cytochrome P450, family 21, subfamily A, polypeptide 2 30 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CCTCCACCTCCCGCCTCTTGC 0.667000 13 73 0 0 0.003163 0 0 CCDC88C 440193 broad.mit.edu 37 14 91805701 91805701 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:91805701G>A ENST00000389857.6 - 8 816 c.730C>T c.(730-732)Ctc>Ttc p.L244F NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 244 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) TCGCTAGAGAGGCTGCTGGTG 0.662000 5 19 0 0 0.001984 0 0 MARS2 92935 broad.mit.edu 37 2 198570826 198570826 + Missense_Mutation SNP A A G rs150082953 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:198570826A>G ENST00000282276.6 + 1 740 c.697A>G c.(697-699)Atc>Gtc p.I233V AC011997.1_ENST00000409845.1_Intron NM_138395.3 NP_612404.1 Q96GW9 SYMM_HUMAN methionyl-tRNA synthetase 2, mitochondrial 233 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 22 L-Methionine(DB00134) CCCTCAGGCGATCACCCCCGA 0.587000 12 32 0 0 0.001368 0 0 FAT3 120114 broad.mit.edu 37 11 92085367 92085367 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:92085367C>T ENST00000298047.6 + 1 106 c.89C>T c.(88-90)tCc>tTc p.S30F FAT3_ENST00000409404.2_Missense_Mutation_p.S30F|FAT3_ENST00000541502.1_Missense_Mutation_p.S30F Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 30 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCCACTGTCTCCCAGGGGCTG 0.512000 TCGA Ovarian(4;0.039) 176 446 0 0 0.003610 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820340 178820340 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:178820340C>T ENST00000234816.2 - 6 1847 c.1400G>A c.(1399-1401)gGa>gAa p.G467E RALGPS2_ENST00000324778.4_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G467E NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 467 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 CCAGAAAATTCCATCTTGGTG 0.448000 16 28 0 0 0.006122 0 0 CNTN4 152330 broad.mit.edu 37 3 2928860 2928860 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:2928860G>A ENST00000397461.1 + 9 1276 c.892G>A c.(892-894)Gaa>Aaa p.E298K CNTN4_ENST00000427331.1_Missense_Mutation_p.E298K|CNTN4_ENST00000358480.3_Missense_Mutation_p.E79K|CNTN4_ENST00000418658.1_Missense_Mutation_p.E298K NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 298 Ig-like C2-type 3. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATGTGTAGCTGAAAATTCCAG 0.378000 4 16 0 0 0.000602 0 0 C15orf59 388135 broad.mit.edu 37 15 74032662 74032662 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:74032662A>T ENST00000569673.1 - 3 1682 c.478T>A c.(478-480)Tcc>Acc p.S160T C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.S160T Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 160 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TCCTCACTGGAGGAGTCTGGG 0.662000 19 32 0 0 0.006122 0 0 OXSR1 9943 broad.mit.edu 37 3 38289197 38289197 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38289197C>T ENST00000311806.3 + 14 1668 c.1296C>T c.(1294-1296)atC>atT p.I432I OXSR1_ENST00000446845.1_Silent_p.I432I NM_005109.2 NP_005100.1 O95747 OXSR1_HUMAN oxidative stress responsive 1 432 intracellular protein kinase cascade|response to oxidative stress ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) AAACCAAGATCCCAATCAGTC 0.368000 7 18 0 0 0.003080 0 0 LRTM1 57408 broad.mit.edu 37 3 54958975 54958975 + Missense_Mutation SNP C C T rs141303357 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:54958975C>T ENST00000273286.5 - 2 437 c.275G>A c.(274-276)gGa>gAa p.G92E CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G16E|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 92 integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) ATGGAAAGCTCCAGGGGCCAG 0.463000 4 20 0 0 0.009096 0 0 ASZ1 136991 broad.mit.edu 37 7 117003787 117003787 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:117003787C>T ENST00000284629.2 - 13 1353 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K NM_130768.2 NP_570124.1 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper domain containing 1 431 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1) 24 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) GGATCATTTTCCCGTTCATTT 0.284000 6 18 0 0 0.001168 0 0 WNT10A 80326 broad.mit.edu 37 2 219746962 219746962 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:219746962C>T ENST00000258411.3 + 2 826 c.193C>T c.(193-195)Cca>Tca p.P65S NM_025216.2 NP_079492.2 Q9GZT5 WN10A_HUMAN wingless-type MMTV integration site family, member 10A 65 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2) 12 Renal(207;0.0474) Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTAACATTGCCAGGCCTGAG 0.607000 17 32 0 0 0.004990 0 0 TRIML2 205860 broad.mit.edu 37 4 189026057 189026057 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:189026057C>T ENST00000512729.1 - 2 443 c.69G>A c.(67-69)tcG>tcA p.S23S TRIML2_ENST00000326754.3_Silent_p.S23S|TRIML2_ENST00000536972.1_Silent_p.S73S NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 23 ligase activity p.S23S(1) central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GTTTCTCCCTCGATGTGTTCA 0.403000 20 41 0 0 0.008871 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677598 37677598 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:37677598G>A ENST00000532828.2 - 5 1092 c.841C>T c.(841-843)Cag>Tag p.Q281* CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000531805.1_Nonsense_Mutation_p.Q226*|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGTGTTTTCTGGATGAAGGCC 0.413000 32 100 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179579150 179579150 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179579150C>T ENST00000589042.1 - 91 26575 c.26351G>A c.(26350-26352)tGg>tAg p.W8784* TTN_ENST00000342992.6_Nonsense_Mutation_p.W7540*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W8467* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8467 Ig-like 70. 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) ATAAGAAATCCATATGTTGTC 0.408000 12 26 0 0 0.001368 0 0 SPATA31D1 389763 broad.mit.edu 37 9 84606491 84606491 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:84606491C>T ENST00000344803.2 + 4 1153 c.1106C>T c.(1105-1107)tCt>tTt p.S369F NM_001001670.2 NP_001001670.1 SPATA31 subfamily D, member 1 TCTTTTTCCTCTAATTTTGTG 0.483000 11 39 0 0 0.008291 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762670 24762670 + Missense_Mutation SNP A A C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:24762670A>C ENST00000376451.2 + 2 774 c.514A>C c.(514-516)Aaa>Caa p.K172Q KIAA1217_ENST00000376462.1_Missense_Mutation_p.K374Q|KIAA1217_ENST00000307544.6_Missense_Mutation_p.K172Q|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K454Q|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K454Q|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K454Q|KIAA1217_ENST00000396445.1_Missense_Mutation_p.K172Q|KIAA1217_ENST00000396446.1_Missense_Mutation_p.K172Q|KIAA1217_ENST00000430453.2_Missense_Mutation_p.K375Q Q5T5P2 SKT_HUMAN KIAA1217 454 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTACAGACAGAAATCAAGGAA 0.493000 10 31 0 0 0.008291 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765916 18765916 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:18765916G>A ENST00000304081.4 - 4 687 c.587C>T c.(586-588)tCc>tTc p.S196F NT5C1B_ENST00000359846.2_Missense_Mutation_p.S256F|NT5C1B_ENST00000600945.1_Missense_Mutation_p.S256F|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.S256F NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) CAGCTGGGTGGAGGCGGGGTA 0.657000 6 14 0 0 0.003080 0 0 DUOX2 50506 broad.mit.edu 37 15 45399629 45399629 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:45399629C>T ENST00000389039.6 - 14 1992 c.1607G>A c.(1606-1608)cGa>cAa p.R536Q DUOX2_ENST00000603300.1_Missense_Mutation_p.R536Q Q9NRD8 DUOX2_HUMAN dual oxidase 2 536 Peroxidase-like; mediates peroxidase activity (By similarity). 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) GGTGGTATTTCGGATGTCTTC 0.557000 23 51 0 0 0.002299 0 0 C5AR1 728 broad.mit.edu 37 19 47823062 47823062 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:47823062G>A ENST00000355085.3 + 2 50 c.28G>A c.(28-30)Gat>Aat p.D10N NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 10 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) TACCACCCCTGATTATGGGCA 0.532000 16 39 0 0 0.004990 0 0 PLCE1 51196 broad.mit.edu 37 10 95791437 95791437 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:95791437G>A ENST00000260766.3 + 2 1268 c.634G>A c.(634-636)Gat>Aat p.D212N PLCE1_ENST00000371380.2_Missense_Mutation_p.D212N NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 212 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.D212N(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AATTTTAGACGATTGTGGAAA 0.388000 8 16 0 0 0.004482 0 0 KRT76 51350 broad.mit.edu 37 12 53169379 53169379 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53169379A>T ENST00000332411.2 - 2 661 c.608T>A c.(607-609)tTc>tAc p.F203Y NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 203 Coil 1A.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTGTTCCAGGAACCGCACCTG 0.572000 26 51 0 0 0.003954 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161161968 161161968 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:161161968G>A ENST00000367996.4 - 8 2402 c.1974C>T c.(1972-1974)atC>atT p.I658I NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 658 Cys-rich. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) AGCCAGCATGGATGCATCGGC 0.562000 OREG0013940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 21 0 0 0.003163 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790170 133790170 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:133790170G>A ENST00000321016.8 - 18 3680 c.3450C>T c.(3448-3450)ccC>ccT p.P1150P IGSF9B_ENST00000533871.2_Silent_p.P1150P Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1150 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CAGCCGGCTCGGGGTAAGGCA 0.687000 24 48 0 0 0.003954 0 0 DNAH2 146754 broad.mit.edu 37 17 7664188 7664188 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:7664188C>T ENST00000572933.1 + 18 4376 c.2916C>T c.(2914-2916)tcC>tcT p.S972S DNAH2_ENST00000389173.2_Silent_p.S972S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 972 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACAAGGACTCCTTCATTCATC 0.532000 23 38 0 0 0.003954 0 0 BDKRB2 624 broad.mit.edu 37 14 96703495 96703495 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:96703495C>T ENST00000306005.3 + 2 247 c.51C>T c.(49-51)tcC>tcT p.S17S BDKRB2_ENST00000554311.1_Silent_p.S17S|BDKRB2_ENST00000539359.1_5'UTR|RP11-404P21.8_ENST00000553811.1_Silent_p.S17S|BDKRB2_ENST00000542454.2_5'UTR NM_000623.3 NP_000614.1 P30411 BKRB2_HUMAN bradykinin receptor B2 17 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) GTGAGGACTCCGTGCCCACCA 0.532000 30 48 0 0 0.002445 0 0 ATP8A1 10396 broad.mit.edu 37 4 42592857 42592857 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:42592857G>A ENST00000381668.5 - 7 726 c.495C>T c.(493-495)ctC>ctT p.L165L ATP8A1_ENST00000264449.10_Intron NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 165 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) GATCTGCTGGGAGATGTTCCC 0.458000 28 50 0 0 0.003271 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033105 20033105 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:20033105G>A ENST00000377340.2 - 2 396 c.365C>T c.(364-366)cCg>cTg p.P122L CRNKL1_ENST00000377327.4_Missense_Mutation_p.P110L|CRNKL1_ENST00000536226.1_5'UTR NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 122 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AACCGGAAGCGGAACTTGCAG 0.597000 19 43 0 0 0.002780 0 0 BMPR1B 658 broad.mit.edu 37 4 96036848 96036848 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:96036848C>T ENST00000515059.1 + 6 542 c.259C>T c.(259-261)Cct>Tct p.P87S BMPR1B_ENST00000502683.1_Silent_p.F88F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.P87S|BMPR1B_ENST00000264568.4_Missense_Mutation_p.P87S|BMPR1B_ENST00000440890.2_Missense_Mutation_p.P117S NM_001203.2 NP_001194.1 O00238 BMR1B_HUMAN bone morphogenetic protein receptor, type IB 87 BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation receptor complex ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.51e-07) CACTCCCATTCCTCATCAAAG 0.363000 14 59 0 0 0.004007 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711613 155711613 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:155711613G>A ENST00000295101.2 + 3 1771 c.1294G>A c.(1294-1296)Gac>Aac p.D432N NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 432 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CAGCTTGGGAGACTTGCCCAT 0.413000 16 47 0 0 0.004990 0 0 C1orf109 54955 broad.mit.edu 37 1 38155298 38155298 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:38155298C>T ENST00000358011.4 - 2 444 c.255G>A c.(253-255)ctG>ctA p.L85L C1orf109_ENST00000494120.1_Intron NM_017850.1 NP_060320.1 Q9NX04 CA109_HUMAN chromosome 1 open reading frame 109 85 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) CTAGCTTGTCCAGGACGATGT 0.522000 30 70 0 0 0.004878 0 0 OR8B3 390271 broad.mit.edu 37 11 124266627 124266627 + Silent SNP G G A rs144139982 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:124266627G>A ENST00000354597.3 - 1 637 c.621C>T c.(619-621)atC>atT p.I207I NM_001005467.1 NP_001005467.1 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, member 3 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I207I(1) kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGGGTACCATGATATTAATAC 0.418000 38 101 0 0 0.004289 0 0 CDH12 1010 broad.mit.edu 37 5 22078763 22078763 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:22078763G>A ENST00000382254.1 - 5 1109 c.23C>T c.(22-24)tCc>tTc p.S8F CDH12_ENST00000504376.2_Missense_Mutation_p.S8F|CDH12_ENST00000522262.1_Missense_Mutation_p.S8F NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 8 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GAGAAGCAGGGATAAACAGTT 0.438000 HNSCC(59;0.17) 30 68 0 0 0.006320 0 0 DMXL1 1657 broad.mit.edu 37 5 118485868 118485868 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:118485868C>T ENST00000311085.8 + 18 4426 c.4346C>T c.(4345-4347)aCt>aTt p.T1449I DMXL1_ENST00000539542.1_Missense_Mutation_p.T1449I NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1449 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CTTTTTCAGACTCAACTTCTA 0.338000 9 24 0 0 0.004482 0 0 SLAIN1 122060 broad.mit.edu 37 13 78293711 78293711 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:78293711C>T ENST00000466548.1 + 3 631 c.605C>T c.(604-606)tCc>tTc p.S202F SLAIN1_ENST00000488699.1_Missense_Mutation_p.S60F|SLAIN1_ENST00000418532.1_5'UTR NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 202 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) TCAGAGAAATCCCTGACTCCT 0.418000 8 32 0 0 0.003080 0 0 AIFM3 150209 broad.mit.edu 37 22 21328912 21328912 + Splice_Site SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:21328912T>C ENST00000399167.2 + 7 847 c.e7+2 AIFM3_ENST00000399163.2_Splice_Site|AIFM3_ENST00000405089.1_Splice_Site|AIFM3_ENST00000440238.2_Splice_Site|AIFM3_ENST00000333607.6_Splice_Site|AIFM3_ENST00000335375.5_Splice_Site|AIFM3_ENST00000465606.1_Splice_Site NM_144704.2 NP_653305.1 apoptosis-inducing factor, mitochondrion-associated, 3 breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 21 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGGTGCAGGTTGGTAGTGGG 0.602000 9 24 0 0 0.004482 0 0 RPH3A 22895 broad.mit.edu 37 12 113327831 113327831 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:113327831G>A ENST00000389385.4 + 18 2063 c.1566G>A c.(1564-1566)atG>atA p.M522I RPH3A_ENST00000420983.2_Missense_Mutation_p.M522I|RPH3A_ENST00000548866.1_Missense_Mutation_p.M473I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000543106.2_Missense_Mutation_p.M522I|RPH3A_ENST00000551052.1_Missense_Mutation_p.M518I|RPH3A_ENST00000447659.2_Missense_Mutation_p.M473I|RPH3A_ENST00000415485.3_Missense_Mutation_p.M522I NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 522 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CTTTTAAGATGAAACGTGCTG 0.483000 49 123 0 0 0.003610 0 0 ADCK2 90956 broad.mit.edu 37 7 140389516 140389516 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:140389516C>T ENST00000072869.4 + 6 1855 c.1677C>T c.(1675-1677)acC>acT p.T559T ADCK2_ENST00000476491.1_Silent_p.T559T NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 559 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) ACACCATCACCCTGGAGAAGG 0.607000 7 17 0 0 0.001984 0 0 KLHL12 59349 broad.mit.edu 37 1 202862461 202862461 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:202862461G>A ENST00000367261.3 - 11 1704 c.1486C>T c.(1486-1488)Cgc>Tgc p.R496C KLHL12_ENST00000367259.1_Intron|KLHL12_ENST00000435533.3_Missense_Mutation_p.R534C NM_021633.2 NP_067646.1 Q53G59 KLH12_HUMAN kelch-like family member 12 496 Interaction with DVL3. Wnt receptor signaling pathway protein binding NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1) 14 BRCA - Breast invasive adenocarcinoma(75;0.166) GAATCAGTGCGAATGTTGTAT 0.522000 37 85 0 0 0.004289 0 0 OR2K2 26248 broad.mit.edu 37 9 114090048 114090048 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:114090048G>A ENST00000374428.1 - 1 752 c.753C>T c.(751-753)tcC>tcT p.S251S OR2K2_ENST00000302681.1_Silent_p.S222S Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2) 20 TCAGAATAGTGGAAAGGATGA 0.453000 7 17 0 0 0.003080 0 0 KIF19 124602 broad.mit.edu 37 17 72338108 72338108 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72338108G>A ENST00000389916.4 + 3 352 c.214G>A c.(214-216)Gac>Aac p.D72N NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 72 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CGTGGCCTTTGACTTCACCGC 0.662000 33 134 0 0 0.002836 0 0 NLRP10 338322 broad.mit.edu 37 11 7984979 7984979 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:7984979C>T ENST00000328600.2 - 1 225 c.64G>A c.(64-66)Gag>Aag p.E22K NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 22 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) AAATCGTTCTCCTCAAGGTCA 0.567000 7 29 0 0 0.004482 0 0 FREM1 158326 broad.mit.edu 37 9 14792826 14792826 + Missense_Mutation SNP A A C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:14792826A>C ENST00000380881.4 - 23 4714 c.3899T>G c.(3898-3900)cTt>cGt p.L1300R FREM1_ENST00000380880.3_Missense_Mutation_p.L1299R|FREM1_ENST00000422223.2_Missense_Mutation_p.L1299R Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1299 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TATGGCTGAAAGAATAGCACT 0.363000 4 3 0 0 0.009096 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 32077634 32077634 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:32077634G>A ENST00000354689.6 + 0 249 RP11-1166P10.6_ENST00000566806.1_RNA ATCTGCAAATGAACAGCCTGA 0.512000 55 314 0 0 0.003610 0 0 BAGE2 85319 broad.mit.edu 37 21 11039096 11039096 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:11039096C>T ENST00000470054.1 - 0 1107 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTCCTTTTCTCCTTGTAGCCT 0.398000 10 222 0 0 0.001855 0 0 ADAM7 8756 broad.mit.edu 37 8 24299996 24299996 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:24299996C>T ENST00000175238.6 + 2 146 c.63C>T c.(61-63)atC>atT p.I21I ADAM7_ENST00000380789.1_Silent_p.I21I|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Silent_p.I21I|RP11-624C23.1_ENST00000519689.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 21 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) AAAAGTTCATCCTTGGAGTAG 0.408000 28 86 0 0 0.008361 0 0 MRE11A 4361 broad.mit.edu 37 11 94204874 94204874 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:94204874G>A ENST00000323929.3 - 8 933 c.711C>T c.(709-711)ttC>ttT p.F237F MRE11A_ENST00000393241.4_Silent_p.F237F|MRE11A_ENST00000407439.3_Silent_p.F240F|MRE11A_ENST00000323977.3_Silent_p.F237F NM_005591.3 NP_005582.1 P49959 MRE11_HUMAN MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 237 F -> C (in a breast cancer sample; somatic mutation). DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase Mre11 complex|nucleoplasm 3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824) CAAGATCAATGAAGTCATCCA 0.343000 Homologous recombination Ataxia-Telangiectasia-Like Disorder 15 22 0 0 0.003163 0 0 SNTG2 54221 broad.mit.edu 37 2 1271191 1271191 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:1271191G>A ENST00000308624.5 + 14 1261 c.1132G>A c.(1132-1134)Gat>Aat p.D378N SNTG2_ENST00000407292.1_Missense_Mutation_p.D251N NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 378 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GGGTCTTCAAGATTTTGACTT 0.522000 4 11 0 0 0.009096 0 0 EPHB1 2047 broad.mit.edu 37 3 134851570 134851570 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:134851570C>T ENST00000398015.3 + 5 1346 c.976C>T c.(976-978)Ccc>Tcc p.P326S EPHB1_ENST00000488154.1_3'UTR|EPHB1_ENST00000493838.1_5'UTR NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 326 Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 CCCATCAGGTCCCCGCAATGT 0.547000 4 15 0 0 0.009096 0 0 OR5D13 390142 broad.mit.edu 37 11 55541018 55541018 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55541018C>T ENST00000361760.1 + 1 105 c.105C>T c.(103-105)ttC>ttT p.F35F NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TTTTCTTGTTCGTCTACACAG 0.398000 22 41 0 0 0.001882 0 0 NACA 4666 broad.mit.edu 37 12 57110418 57110418 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:57110418G>A ENST00000454682.1 - 3 5177 c.4896C>T c.(4894-4896)gcC>gcT p.A1632A NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TCCCTTTGGGGGCTGGAGTTG 0.577000 T BCL6 NHL 9 19 0 0 0.004482 0 0 DPPA4 55211 broad.mit.edu 37 3 109049624 109049624 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:109049624C>T ENST00000335658.6 - 5 480 c.426G>A c.(424-426)cgG>cgA p.R142R DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 142 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GCAATGATTTCCGGATTTTGG 0.393000 10 22 0 0 0.008291 0 0 LAMA4 3910 broad.mit.edu 37 6 112454586 112454586 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:112454586G>A ENST00000230538.7 - 27 4058 c.3661C>T c.(3661-3663)Ctg>Ttg p.L1221L LAMA4_ENST00000424408.2_Silent_p.L1214L|LAMA4_ENST00000522006.1_Silent_p.L1214L|LAMA4_ENST00000389463.4_Silent_p.L1214L NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1221 Laminin G-like 2. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCAACTCCCAGGGTTTCTGTC 0.433000 11 68 0 0 0.000978 0 0 USP47 55031 broad.mit.edu 37 11 11919184 11919184 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:11919184G>A ENST00000339865.5 + 4 1096 c.333G>A c.(331-333)ttG>ttA p.L111L USP47_ENST00000399455.2_Silent_p.L199L|USP47_ENST00000527733.1_Silent_p.L179L|USP47_ENST00000539466.1_5'UTR NM_017944.3 NP_060414.3 Q96K76 UBP47_HUMAN ubiquitin specific peptidase 47 199 base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 46 Epithelial(150;0.000339) CTTGCTATTTGAATAGCCTTT 0.259000 19 41 0 0 0.001882 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209184997 209184997 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:209184997C>T ENST00000264380.4 + 17 2262 c.2104C>T c.(2104-2106)Ccc>Tcc p.P702S NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 702 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TATTAAAAACCCCAAAATTCT 0.303000 15 55 0 0 0.003163 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835238 12835238 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12835238G>A ENST00000357726.4 + 1 255 c.228G>A c.(226-228)gaG>gaA p.E76E NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 76 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTAATCTAGAGATCTTTCGAG 0.577000 22 45 0 0 0.003330 0 0 PTPRD 5789 broad.mit.edu 37 9 8521361 8521361 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:8521361C>T ENST00000381196.4 - 17 1420 c.877G>A c.(877-879)Gat>Aat p.D293N PTPRD_ENST00000397606.3_Missense_Mutation_p.D283N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D293N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D290N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D280N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D293N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D290N|PTPRD_ENST00000356435.5_Missense_Mutation_p.D293N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D293N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D283N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D280N NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 293 Ig-like C2-type 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TGTCTTACATCATTCAGTTCT 0.433000 TSP Lung(15;0.13) 14 22 0 0 0.003163 0 0 OR7G1 125962 broad.mit.edu 37 19 9225705 9225705 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9225705G>A ENST00000293614.1 - 1 734 c.735C>T c.(733-735)ctC>ctT p.L245L OR7G1_ENST00000541538.1_Silent_p.L245L Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 AAAAAACAGAGAGGTGACAGC 0.428000 7 13 0 0 0.001984 0 0 ABHD6 57406 broad.mit.edu 37 3 58271159 58271159 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:58271159C>T ENST00000478253.1 + 9 1317 c.816C>T c.(814-816)atC>atT p.I272I ABHD6_ENST00000295962.4_Silent_p.I272I Q9BV23 ABHD6_HUMAN abhydrolase domain containing 6 272 integral to membrane acylglycerol lipase activity NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209) CGACGCAGATCATCTGGGGGA 0.483000 14 44 0 0 0.003163 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169087 32169087 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32169087C>T ENST00000375023.3 - 22 4084 c.3946G>A c.(3946-3948)Gcc>Acc p.A1316T NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1316 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 AGCACCCGGGCCAGGGCAAAC 0.647000 70 241 0 0 0.003610 0 0 MERTK 10461 broad.mit.edu 37 2 112761519 112761519 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:112761519G>A ENST00000295408.4 + 13 2082 c.1825G>A c.(1825-1827)Gaa>Aaa p.E609K MERTK_ENST00000421804.2_Missense_Mutation_p.E609K|MERTK_ENST00000409780.1_Missense_Mutation_p.E433K Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 609 Protein kinase. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 TCTTAAGCAGGAAGATGGGAC 0.463000 11 40 0 0 0.008291 0 0 OR2D3 120775 broad.mit.edu 37 11 6942260 6942260 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6942260G>A ENST00000317834.3 + 1 56 c.28G>A c.(28-30)Ggt>Agt p.G10S NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 10 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GTGCCAAACAGGTAAACAGGC 0.398000 6 24 0 0 0.001168 0 0 RP11-24M17.5 0 broad.mit.edu 37 15 76075529 76075529 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:76075529G>A ENST00000395215.3 + 0 1169 gcgaaagcaggaaaagaggct 0.607000 42 92 0 0 0.002522 0 0 TG 7038 broad.mit.edu 37 8 133895059 133895059 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:133895059G>A ENST00000220616.4 + 8 930 c.889_splice c.e8-1 p.C297_splice TG_ENST00000377869.1_Splice_Site_p.C297_splice NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 297 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TTTCCTCTAGGCCCCACAAAA 0.498000 10 27 0 0 0.000978 0 0 FOLR1 2348 broad.mit.edu 37 11 71906446 71906446 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71906446C>T ENST00000393679.1 + 3 736 c.300C>T c.(298-300)ttC>ttT p.F100F FOLR1_ENST00000393676.3_Silent_p.F100F|FOLR1_ENST00000393681.2_Silent_p.F100F|FOLR1_ENST00000312293.4_Silent_p.F100F|RP11-807H22.7_ENST00000378140.3_RNA P15328 FOLR1_HUMAN folate receptor 1 (adult) 100 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 AACGGCATTTCATCCAGGACA 0.547000 36 111 0 0 0.008740 0 0 ZNF207 7756 broad.mit.edu 37 17 30694883 30694883 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:30694883C>T ENST00000394670.4 + 10 1183 c.1014C>T c.(1012-1014)ttC>ttT p.F338F ZNF207_ENST00000342555.6_Silent_p.F341F|ZNF207_ENST00000341711.6_Silent_p.F239F|ZNF207_ENST00000394673.2_Silent_p.F307F|ZNF207_ENST00000321233.6_Silent_p.F322F|ZNF207_ENST00000577908.1_Silent_p.F338F NM_001098507.1 NP_001091977.1 O43670 ZN207_HUMAN zinc finger protein 207 322 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2) 10 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) AGCCTACATTCCCTGCTTATA 0.438000 25 31 0 0 0.003330 0 0 MECR 51102 broad.mit.edu 37 1 29542634 29542634 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:29542634G>A ENST00000373791.3 - 3 433 c.61C>T c.(61-63)Ctt>Ttt p.L21F MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.L97F NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 97 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) AGTTCAGGAAGGAATCCGTAG 0.552000 11 47 0 0 0.000978 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027448 2027448 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:2027448G>A ENST00000382722.5 - 1 554 c.192C>T c.(190-192)tcC>tcT p.S64S CACNA2D4_ENST00000586184.1_Silent_p.S64S|RP5-1096D14.3_ENST00000544163.1_RNA|CACNA2D4_ENST00000587995.1_Silent_p.S64S|CACNA2D4_ENST00000585732.1_Silent_p.S64S NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 64 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCCACGCAGGGGACAGGGAGG 0.622000 3 11 0 0 0.004672 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711179 140711179 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140711179G>A ENST00000517417.1 + 1 928 c.928G>A c.(928-930)Gaa>Aaa p.E310K PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E310K NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTAGATTTCGAAGAATACAA 0.373000 10 15 0 0 0.006214 0 0 SALL2 6297 broad.mit.edu 37 14 21993173 21993173 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:21993173C>T ENST00000327430.3 - 2 983 c.689G>A c.(688-690)gGg>gAg p.G230E SALL2_ENST00000450879.2_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 230 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) AGAGGCAGTCCCTGTCCCAGG 0.592000 12 29 0 0 0.001368 0 0 APOB 338 broad.mit.edu 37 2 21229685 21229685 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:21229685G>A ENST00000233242.1 - 26 10182 c.10055C>T c.(10054-10056)aCc>aTc p.T3352I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3352 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTCAGCATTGGTATTCAGTGT 0.373000 109 266 0 0 0.003610 0 0 LRWD1 222229 broad.mit.edu 37 7 102110281 102110281 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:102110281G>A ENST00000292616.5 + 11 1546 c.1394G>A c.(1393-1395)gGc>gAc p.G465D NM_152892.1 NP_690852.1 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain containing 1 465 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 GGCTGCGAGGGCGGCTGCTGC 0.711000 9 25 0 0 0.006214 0 0 ANO4 121601 broad.mit.edu 37 12 101295517 101295517 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:101295517C>T ENST00000538618.1 + 4 452 c.452C>T c.(451-453)cCt>cTt p.P151L ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_5'UTR|ANO4_ENST00000392979.3_5'UTR Q32M45 ANO4_HUMAN anoctamin 4 0 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 CGTCGCCTGCCTGTGGTCAGG 0.498000 HNSCC(74;0.22) 19 38 0 0 0.006122 0 0 BAGE2 85319 broad.mit.edu 37 21 11039296 11039296 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:11039296G>A ENST00000470054.1 - 0 907 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGTGTGTAACGACTTCAATGT 0.388000 5 175 0 0 0.001984 0 0 PSG5 5673 broad.mit.edu 37 19 43689225 43689225 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:43689225C>T ENST00000404580.1 - 2 227 c.139G>A c.(139-141)Gag>Aag p.E47K PSG5_ENST00000407568.1_Missense_Mutation_p.E47K|PSG5_ENST00000407356.1_Missense_Mutation_p.E47K|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.E47K|PSG5_ENST00000342951.6_Missense_Mutation_p.E47K|PSG5_ENST00000366175.3_Missense_Mutation_p.E47K Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 47 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) TCCTTCCCCTCGGAAACTTTG 0.468000 46 86 0 0 0.003610 0 0 ENPP4 22875 broad.mit.edu 37 6 46107806 46107806 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46107806A>T ENST00000321037.4 + 2 716 c.486A>T c.(484-486)gaA>gaT p.E162D NM_014936.4 NP_055751.1 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) 162 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 18 CATTTGAGGAAAGACTAAATA 0.413000 15 53 0 0 0.003163 0 0 CELSR1 9620 broad.mit.edu 37 22 46860109 46860109 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:46860109G>A ENST00000262738.3 - 2 3677 c.3678C>T c.(3676-3678)ctC>ctT p.L1226L CELSR1_ENST00000395964.1_Silent_p.L1226L NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1226 central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCTCCACGAAGAGGGCCAGCA 0.602000 20 29 0 0 0.010504 0 0 OR5H6 79295 broad.mit.edu 37 3 97983875 97983875 + Silent SNP G G A rs146320551 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:97983875G>A ENST00000383696.2 + 1 788 c.747G>A c.(745-747)ggG>ggA p.G249G RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G249G(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 CTATCAAAGGGATACGAAAAG 0.388000 5 25 0 0 0.001168 0 0 COL11A2 1302 broad.mit.edu 37 6 33134889 33134889 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:33134889C>T ENST00000341947.2 - 58 4415 c.4188G>A c.(4186-4188)ggG>ggA p.G1396G COL11A2_ENST00000374713.1_Silent_p.G1349G|COL11A2_ENST00000395197.1_Silent_p.G1336G|COL11A2_ENST00000357486.1_Silent_p.G1375G|COL11A2_ENST00000374714.1_Silent_p.G1370G|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Silent_p.G1289G|COL11A2_ENST00000374712.1_Silent_p.G1315G|COL11A2_ENST00000374708.4_Silent_p.G1310G NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1396 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GACCAGGCAGCCCTGGGGGTC 0.607000 13 39 0 0 0.004990 0 0 ASTN2 23245 broad.mit.edu 37 9 119738420 119738420 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:119738420C>T ENST00000313400.4 - 9 1824 c.1724G>A c.(1723-1725)gGg>gAg p.G575E ASTN2_ENST00000361209.2_Missense_Mutation_p.G524E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G575E O75129 ASTN2_HUMAN astrotactin 2 575 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GGCTTGCTCCCCTGTCACCAG 0.498000 15 44 0 0 0.010504 0 0 MUC16 94025 broad.mit.edu 37 19 9086150 9086150 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9086150C>T ENST00000397910.4 - 1 5868 c.5665G>A c.(5665-5667)Gga>Aga p.G1889R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1889 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCTGTTTCCCATAGACAGG 0.502000 11 31 0 0 0.000978 0 0 ARHGAP44 9912 broad.mit.edu 37 17 12819328 12819328 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:12819328G>A ENST00000379672.5 + 5 687 c.387_splice c.e5+1 p.E129_splice ARHGAP44_ENST00000340825.3_Splice_Site_p.E129_splice|ARHGAP44_ENST00000262444.9_Splice_Site_p.E129_splice NM_014859.4 NP_055674.4 Q17R89 RHG44_HUMAN Rho GTPase activating protein 44 129 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1) 31 TGCTGGCGGAGGTAAGCAGCA 0.512000 12 14 0 0 0.001855 0 0 KLRK1 22914 broad.mit.edu 37 12 10532306 10532306 + Silent SNP G G A rs148179014 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:10532306G>A ENST00000240618.6 - 4 374 c.234C>T c.(232-234)ttC>ttT p.F78F KLRK1_ENST00000540818.1_Silent_p.F78F|RP11-277P12.20_ENST00000500682.1_RNA|KLRC4-KLRK1_ENST00000539300.1_3'UTR NM_001199805.1|NM_007360.3 NP_001186734.1|NP_031386.2 P26718 NKG2D_HUMAN killer cell lectin-like receptor subfamily K, member 1 78 natural killer cell activation|T cell costimulation integral to plasma membrane sugar binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1) 9 TACAGTTTAGGAATACAGCAC 0.328000 4 35 0 0 0.009096 0 0 GPR98 84059 broad.mit.edu 37 5 89992916 89992916 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:89992916G>A ENST00000405460.2 + 34 8204 c.8108G>A c.(8107-8109)gGa>gAa p.G2703E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2703 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AATGTGGCAGGAATTGTTAGC 0.393000 33 66 0 0 0.007835 0 0 RAPGEF2 9693 broad.mit.edu 37 4 160273928 160273928 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:160273928G>A ENST00000264431.4 + 21 3893 c.3474G>A c.(3472-3474)tcG>tcA p.S1158S NM_014247.2 NP_055062.1 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor (GEF) 2 1158 Ser-rich. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 70 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TTAGCAATTCGTCTTTTGACT 0.483000 15 28 0 0 0.004990 0 0 CD109 135228 broad.mit.edu 37 6 74528148 74528148 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74528148G>A ENST00000437994.2 + 31 4329 c.3898G>A c.(3898-3900)Gaa>Aaa p.E1300K CD109_ENST00000287097.5_Missense_Mutation_p.E1317K|CD109_ENST00000422508.2_Missense_Mutation_p.E1240K NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1317 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GGCTCTTATGGAAGTTAACCT 0.423000 7 44 0 0 0.001984 0 0 CCDC87 55231 broad.mit.edu 37 11 66359889 66359889 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:66359889G>A ENST00000333861.3 - 1 665 c.598C>T c.(598-600)Ccc>Tcc p.P200S NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 200 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GTCCCAGCGGGGCAGACAGGG 0.607000 9 25 0 0 0.008291 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814062 106814062 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:106814062C>T ENST00000407775.2 + 8 2002 c.1752C>T c.(1750-1752)ttC>ttT p.F584F ZFPM2_ENST00000520492.1_Silent_p.F452F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Silent_p.F452F|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.F315F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 584 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CCCCAGAGTTCCCTAGTGTGT 0.443000 42 78 0 0 0.003610 0 0 DPH1 1801 broad.mit.edu 37 17 1943834 1943834 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:1943834C>T ENST00000263083.6 + 9 1002 c.957C>T c.(955-957)tcC>tcT p.S319S DPH1_ENST00000570477.1_Silent_p.S239S NM_001383.3 NP_001374.3 Q9BZG8 DPH1_HUMAN diphthamide biosynthesis 1 319 peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation cytoplasm|nucleus endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 17 TGGGCCTTTCCTTTGTGAGGC 0.567000 19 42 0 0 0.010504 0 0 SEC14L3 266629 broad.mit.edu 37 22 30857339 30857339 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:30857339C>T ENST00000403066.1 - 12 1145 c.862G>A c.(862-864)Gtg>Atg p.V288M SEC14L3_ENST00000215812.4_Missense_Mutation_p.V347M|SEC14L3_ENST00000540910.1_Missense_Mutation_p.V270M|SEC14L3_ENST00000539629.1_Missense_Mutation_p.V288M|SEC14L3_ENST00000415957.2_Missense_Mutation_p.V288M|SEC14L3_ENST00000402286.1_Missense_Mutation_p.V270M|SEC14L3_ENST00000401751.1_Missense_Mutation_p.V288M Q9UDX4 S14L3_HUMAN SEC14-like 3 (S. cerevisiae) 347 GOLD. integral to membrane|intracellular lipid binding|transporter activity NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1) 19 Vitamin E(DB00163) TCCTCGGGCACCATGTGGGCG 0.607000 19 59 0 0 0.007413 0 0 SYNE1 23345 broad.mit.edu 37 6 152542123 152542123 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:152542123G>A ENST00000367255.5 - 119 22316 c.21715C>T c.(21715-21717)Cag>Tag p.Q7239* SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q6851*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q7168*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q7239*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.Q1763*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q7168* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7239 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGCCAAAGCTGAAGTAGGGCC 0.468000 HNSCC(10;0.0054) 16 63 0 0 0.004007 0 0 RAVER2 55225 broad.mit.edu 37 1 65243731 65243731 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:65243731C>T ENST00000294428.3 + 3 820 c.742C>T c.(742-744)Ctg>Ttg p.L248L RAVER2_ENST00000371072.4_Silent_p.L248L Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 248 RRM 3. cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TTCAGAAGAGCTGTTGCAAAT 0.333000 20 31 0 0 0.002780 0 0 CD109 135228 broad.mit.edu 37 6 74512972 74512972 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74512972G>A ENST00000437994.2 + 24 3339 c.2908G>A c.(2908-2910)Gaa>Aaa p.E970K CD109_ENST00000474094.1_3'UTR|CD109_ENST00000287097.5_Missense_Mutation_p.E970K|CD109_ENST00000422508.2_Missense_Mutation_p.E893K NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 970 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTATCAGAGGGAAGATGGCTC 0.393000 11 56 0 0 0.002450 0 0 LLGL1 3996 broad.mit.edu 37 17 18143908 18143908 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:18143908C>T ENST00000316843.4 + 17 2319 c.2223C>T c.(2221-2223)ccC>ccT p.P741P NM_004140.3 NP_004131.3 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 (Drosophila) 741 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) ACCACGGGCCCACCATGTGGG 0.662000 39 116 0 0 0.002522 0 0 C20orf141 128653 broad.mit.edu 37 20 2796252 2796252 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:2796252G>A ENST00000380589.4 + 2 503 c.329G>A c.(328-330)gGt>gAt p.G110D TMEM239_ENST00000554164.1_Intron|C20orf141_ENST00000603872.1_Missense_Mutation_p.G110D|TMEM239_ENST00000380593.4_Intron NM_080739.2 NP_542777.1 Q9NUB4 CT141_HUMAN chromosome 20 open reading frame 141 110 Leu-rich. integral to membrane endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1) 10 GCCGGTGAAGGTCCTGGACAG 0.627000 7 19 0 0 0.001984 0 0 TONSL 4796 broad.mit.edu 37 8 145662289 145662289 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:145662289G>A ENST00000409379.3 - 15 1770 c.1741C>T c.(1741-1743)Ctg>Ttg p.L581L AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 581 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 TGGTCCAGCAGGAAGCGGACA 0.667000 17 48 0 0 0.004990 0 0 OR2B2 81697 broad.mit.edu 37 6 27879944 27879944 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:27879944C>T ENST00000303324.2 - 1 230 c.154G>A c.(154-156)Gat>Aat p.D52N NM_033057.2 NP_149046.2 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, member 2 52 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 22 AGTTTGAAATCCACATGTGAC 0.393000 7 36 0 0 0.001984 0 0 CACNA1B 774 broad.mit.edu 37 9 140938267 140938267 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:140938267G>A ENST00000277549.5 + 21 3473 c.904G>A c.(904-906)Gag>Aag p.E302K CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1110K|CACNA1B_ENST00000545473.1_Missense_Mutation_p.E136K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1111K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1111K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1110K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1110K Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1110 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GGGGAAGAAGGAGGTGGAAGC 0.587000 37 94 0 0 0.004289 0 0 RGS11 8786 broad.mit.edu 37 16 321421 321421 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:321421C>T ENST00000397770.3 - 11 743 c.726G>A c.(724-726)gtG>gtA p.V242V RGS11_ENST00000359740.5_Silent_p.V231V|RGS11_ENST00000316163.5_Silent_p.V221V|ARHGDIG_ENST00000464609.1_Intron O94810 RGS11_HUMAN regulator of G-protein signaling 11 242 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CGGAGGACTTCACTCGGGTCC 0.662000 8 21 0 0 0.004482 0 0 OR4C46 119749 broad.mit.edu 37 11 51515548 51515548 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:51515548C>T ENST00000328188.1 + 1 267 c.267C>T c.(265-267)gcC>gcT p.A89A NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GAAAGAAGGCCATCCTATTCA 0.463000 29 74 0 0 0.007291 0 0 ZNF484 83744 broad.mit.edu 37 9 95609601 95609601 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:95609601G>A ENST00000395505.2 - 3 1452 c.1360C>T c.(1360-1362)Cat>Tat p.H454Y ZNF484_ENST00000375495.3_Missense_Mutation_p.H490Y|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.H454Y|ZNF484_ENST00000395506.3_Missense_Mutation_p.H492Y NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 490 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 TCTCCTGTATGAATTTTCTGG 0.393000 14 31 0 0 0.001855 0 0 C1orf109 54955 broad.mit.edu 37 1 38155297 38155297 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:38155297C>A ENST00000358011.4 - 2 445 c.256G>T c.(256-258)Gac>Tac p.D86Y C1orf109_ENST00000494120.1_Intron NM_017850.1 NP_060320.1 Q9NX04 CA109_HUMAN chromosome 1 open reading frame 109 86 lung(2)|prostate(2) 4 Myeloproliferative disorder(586;0.0393) CCTAGCTTGTCCAGGACGATG 0.517000 30 69 6.70999e-13 6.91912e-13 0.004289 1 0 ATP13A5 344905 broad.mit.edu 37 3 193081082 193081082 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:193081082G>A ENST00000342358.4 - 3 444 c.327C>T c.(325-327)tcC>tcT p.S109S NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 109 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) CAGCCACCAGGGATTCTTCCC 0.408000 11 50 0 0 0.008291 0 0 VPS53 55275 broad.mit.edu 37 17 613784 613784 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:613784G>A ENST00000437048.2 - 2 303 c.157C>T c.(157-159)Cca>Tca p.P53S VPS53_ENST00000291074.5_Missense_Mutation_p.P53S|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000571805.1_Missense_Mutation_p.P53S|VPS53_ENST00000574029.1_Missense_Mutation_p.P53S|VPS53_ENST00000401468.3_Missense_Mutation_p.P53S NM_001128159.2 NP_001121631.1 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 homolog (S. cerevisiae) 53 protein transport endosome membrane|Golgi apparatus breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1) 19 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) TGCTCGGTTGGGAACAGGGTA 0.418000 16 34 0 0 0.008871 0 0 C1orf173 127254 broad.mit.edu 37 1 75038256 75038256 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:75038256C>T ENST00000326665.5 - 14 3356 c.3138G>A c.(3136-3138)agG>agA p.R1046R C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1046 Glu-rich. p.R1046S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 AAATTTCTTTCCTATCATCTT 0.453000 32 82 0 0 0.003755 0 0 XIRP2 129446 broad.mit.edu 37 2 168107877 168107877 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:168107877C>T ENST00000409195.1 + 9 10064 c.9975C>T c.(9973-9975)ttC>ttT p.F3325F XIRP2_ENST00000295237.9_Silent_p.F3325F|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.F3103F NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 3150 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 CTGAAAATTTCGTGAATGACC 0.448000 13 40 0 0 0.001855 0 0 SCN8A 6334 broad.mit.edu 37 12 52056748 52056748 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52056748G>A ENST00000354534.5 + 2 325 c.147G>A c.(145-147)gaG>gaA p.E49E SCN8A_ENST00000550891.1_Silent_p.E49E|SCN8A_ENST00000545061.1_Silent_p.E49E NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 49 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGGACGATGAGGACAGCAAGC 0.567000 15 38 0 0 0.003163 0 0 CNTN4 152330 broad.mit.edu 37 3 3072565 3072565 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:3072565C>T ENST00000397461.1 + 15 2073 c.1689C>T c.(1687-1689)atC>atT p.I563I CNTN4_ENST00000427331.1_Silent_p.I563I|CNTN4_ENST00000358480.3_Silent_p.I344I|CNTN4_ENST00000397459.2_Silent_p.I235I|CNTN4_ENST00000448906.2_Silent_p.I235I|CNTN4_ENST00000418658.1_Silent_p.I563I NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 563 Ig-like C2-type 6. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) ATTTGATGATCCGAAACATCC 0.433000 7 20 0 0 0.004482 0 0 NT5M 56953 broad.mit.edu 37 17 17207002 17207002 + Silent SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:17207002G>C ENST00000389022.4 + 1 354 c.138G>C c.(136-138)ctG>ctC p.L46L NM_020201.3 NP_064586.1 Q9NPB1 NT5M_HUMAN 5',3'-nucleotidase, mitochondrial 46 DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix 5'-nucleotidase activity|metal ion binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 ACGGCGTGCTGGCTGACTTCG 0.756000 8 18 0 0 0.008291 0 0 NR2C2 7182 broad.mit.edu 37 3 15057667 15057667 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:15057667G>A ENST00000425241.1 + 4 644 c.282G>A c.(280-282)acG>acA p.T94T NR2C2_ENST00000323373.6_Silent_p.T113T|NR2C2_ENST00000406272.2_Silent_p.T94T|NR2C2_ENST00000393102.3_Silent_p.T94T P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 94 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGATTGTCACGGATTCTGCCT 0.537000 18 48 0 0 0.008871 0 0 LNX1 84708 broad.mit.edu 37 4 54344801 54344801 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:54344801C>T ENST00000306888.2 - 7 1557 c.1306G>A c.(1306-1308)Gat>Aat p.D436N FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.D532N NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 532 PDZ 2. cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ATAGGCAAATCCCATTCTCTA 0.443000 26 59 0 0 0.006320 0 0 OR52E4 390081 broad.mit.edu 37 11 5906188 5906188 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5906188C>T ENST00000316987.2 + 1 688 c.666C>T c.(664-666)atC>atT p.I222I NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGTGCTTATCCTTAGAGCTG 0.423000 23 56 0 0 0.001882 0 0 AADACL3 126767 broad.mit.edu 37 1 12785267 12785267 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12785267C>T ENST00000332530.3 + 3 373 c.147C>T c.(145-147)tcC>tcT p.S49S AADACL3_ENST00000359318.5_Silent_p.S119S NM_001103169.1 NP_001096639.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase-like 3 119 hydrolase activity p.S119S(1)|p.S49S(1) breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 15 Ovarian(185;0.249) Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) TCCTGAAGTCCCTGGATGCAT 0.512000 26 69 0 0 0.006320 0 0 INPP5D 3635 broad.mit.edu 37 2 233944049 233944049 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:233944049C>T ENST00000359570.5 + 2 139 c.139C>T c.(139-141)Cgg>Tgg p.R47W INPP5D_ENST00000538935.1_Missense_Mutation_p.R47W Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 47 SH2. apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TTTCAGGTATCGGAATTGCGT 0.398000 7 14 0 0 0.003080 0 0 PKD1 5310 broad.mit.edu 37 16 2153848 2153848 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:2153848G>A ENST00000262304.4 - 23 8418 c.8210C>T c.(8209-8211)tCa>tTa p.S2737L PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.S2737L NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 2737 REJ. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TCCCAGCTCTGAGGGCTGTGG 0.647000 7 16 0 0 0.001984 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947813 57947813 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:57947813C>T ENST00000335397.3 + 3 1213 c.897C>T c.(895-897)gcC>gcT p.A299A NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 299 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) TGAAGGAGGCCCTGAGAAAAA 0.478000 8 18 0 0 0.004482 0 0 JUP 3728 broad.mit.edu 37 17 39776926 39776926 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:39776926T>A ENST00000540235.1 - 9 1642 c.1643A>T c.(1642-1644)gAg>gTg p.E548V KRT17_ENST00000311208.8_Missense_Mutation_p.E389V P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) ATCCTCTCCCTCCAGCAGGCG 0.607000 10 39 0 0 0.000978 0 0 PCSK5 5125 broad.mit.edu 37 9 78796501 78796501 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:78796501G>A ENST00000545128.1 + 16 2729 c.2191G>A c.(2191-2193)Gat>Aat p.D731N PCSK5_ENST00000376752.4_Missense_Mutation_p.D731N NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 731 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 GTCATATCAGGATACCAGTAA 0.433000 14 30 0 0 0.002450 0 0 PVRL2 5819 broad.mit.edu 37 19 45368885 45368885 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:45368885C>T ENST00000252483.5 + 2 446 c.446C>T c.(445-447)tCc>tTc p.S149F PVRL2_ENST00000252485.4_Missense_Mutation_p.S149F NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 149 Ig-like V-type. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CCCAAGGGGTCCGTCCGAGGG 0.662000 29 38 0 0 0.009535 0 0 CACNA1C 775 broad.mit.edu 37 12 2676817 2676817 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:2676817C>T ENST00000399655.1 + 13 2017 c.1752C>T c.(1750-1752)ttC>ttT p.F584F CACNA1C_ENST00000399606.1_Silent_p.F584F|CACNA1C_ENST00000399617.1_Silent_p.F584F|CACNA1C_ENST00000399637.1_Silent_p.F584F|CACNA1C_ENST00000399601.1_Silent_p.F584F|CACNA1C_ENST00000347598.4_Silent_p.F584F|CACNA1C_ENST00000399629.1_Silent_p.F584F|CACNA1C_ENST00000399634.1_Silent_p.F584F|CACNA1C_ENST00000399649.1_Silent_p.F584F|CACNA1C_ENST00000344100.3_Silent_p.F584F|CACNA1C_ENST00000399638.1_Silent_p.F584F|CACNA1C_ENST00000399644.1_Silent_p.F584F|CACNA1C_ENST00000406454.3_Silent_p.F584F|CACNA1C_ENST00000399597.1_Silent_p.F584F|CACNA1C_ENST00000399595.1_Silent_p.F584F|CACNA1C_ENST00000327702.7_Silent_p.F584F|CACNA1C_ENST00000399621.1_Silent_p.F584F|CACNA1C_ENST00000399641.1_Silent_p.F584F|CACNA1C_ENST00000402845.3_Silent_p.F584F|CACNA1C_ENST00000335762.5_Silent_p.F609F|CACNA1C_ENST00000399591.1_Silent_p.F584F|CACNA1C_ENST00000399603.1_Silent_p.F584F|CACNA1C_ENST00000480911.1_Silent_p.F584F NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 584 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGGCCTACTTCGTGTCCCTCT 0.607000 4 9 0 0 0.009096 0 0 MRPS18C 51023 broad.mit.edu 37 4 84377272 84377272 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:84377272G>A ENST00000295491.4 + 1 155 c.42G>A c.(40-42)aaG>aaA p.K14K MRPS18C_ENST00000507019.1_Silent_p.K14K|MRPS18C_ENST00000507349.1_Silent_p.K14K NM_016067.2 NP_057151.1 Q9Y3D5 RT18C_HUMAN mitochondrial ribosomal protein S18C 14 translation mitochondrial small ribosomal subunit structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 Hepatocellular(203;0.114) TAGGGAGGAAGAAGTTGACAC 0.547000 38 114 0 0 0.004878 0 0 C20orf166-AS1 253868 broad.mit.edu 37 20 61143809 61143809 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:61143809C>T ENST00000475015.1 - 0 529 C20orf166-AS1_ENST00000412495.1_RNA GTGGTGAACTCCCCTCGTGCG 0.667000 23 84 0 0 0.002299 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68812211 68812211 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:68812211C>T ENST00000508048.1 - 2 122 c.87G>A c.(85-87)gtG>gtA p.V29V TMPRSS11A_ENST00000334830.7_Silent_p.V30V|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.V30V Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A 30 cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 29 TCACTGCCACCACTGTCAGGG 0.438000 12 18 0 0 0.000978 0 0 TRPC7 57113 broad.mit.edu 37 5 135561043 135561043 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:135561043C>T ENST00000513104.1 - 10 2545 c.e10-1 TRPC7_ENST00000426057.2_Splice_Site|TRPC7_ENST00000355180.3_Splice_Site NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCGAGTCTTCTGGATAAAAC 0.448000 6 9 0 0 0.003080 0 0 HELZ2 85441 broad.mit.edu 37 20 62192982 62192982 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:62192982G>A ENST00000467148.1 - 12 6877 c.6808C>T c.(6808-6810)Cgg>Tgg p.R2270W HELZ2_ENST00000427522.2_Missense_Mutation_p.R1701W NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CTCCCCTCCCGGGGGCTCTTC 0.657000 31 60 0 0 0.002096 0 0 GLI2 2736 broad.mit.edu 37 2 121746665 121746665 + Missense_Mutation SNP G G A rs150597008 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:121746665G>A ENST00000452319.1 + 14 3235 c.3175G>A c.(3175-3177)Gac>Aac p.D1059N GLI2_ENST00000361492.4_Missense_Mutation_p.D1059N|GLI2_ENST00000314490.11_Missense_Mutation_p.D731N P10070 GLI2_HUMAN GLI family zinc finger 2 1059 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCCGGAGGACGACCTGGTGCT 0.706000 17 48 0 0 0.007413 0 0 EVPL 2125 broad.mit.edu 37 17 74005349 74005349 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:74005349C>T ENST00000301607.3 - 22 4190 c.3937G>A c.(3937-3939)Gtg>Atg p.V1313M EVPL_ENST00000586740.1_Missense_Mutation_p.V1335M NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1313 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCCTTGCTCACCGTCTTGGTC 0.697000 72 117 0 0 0.003610 0 0 GNA14 9630 broad.mit.edu 37 9 80046330 80046330 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:80046330G>A ENST00000341700.6 - 4 1013 c.500C>T c.(499-501)tCa>tTa p.S167L GNA14_ENST00000464095.1_5'UTR NM_004297.3 NP_004288.1 O95837 GNA14_HUMAN guanine nucleotide binding protein (G protein), alpha 14 167 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 24 AGGCACGAATGATGGTGTGGC 0.483000 15 22 0 0 0.004990 0 0 NUP155 9631 broad.mit.edu 37 5 37293076 37293076 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:37293076C>A ENST00000231498.3 - 34 4145 c.3942G>T c.(3940-3942)tgG>tgT p.W1314C NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.W1255C|NUP155_ENST00000513532.1_Missense_Mutation_p.W1250C NM_153485.1 NP_705618.1 O75694 NU155_HUMAN nucleoporin 155kDa 1314 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 62 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCATTCTGTTCCAGAATGGAT 0.318000 22 56 9.04412e-07 9.28291e-07 0.004656 1 0 KRT1 3848 broad.mit.edu 37 12 53070892 53070892 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53070892T>A ENST00000252244.3 - 6 1263 c.1205A>T c.(1204-1206)aAt>aTt p.N402I NM_006121.3 NP_006112.3 P04264 K2C1_HUMAN keratin 1 402 Coil 2.|Rod. complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress plasma membrane protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3) 39 GATCACACGATTCAGCTCAGA 0.433000 11 28 0 0 0.008291 0 0 PROSER1 80209 broad.mit.edu 37 13 39587627 39587627 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:39587627C>T ENST00000352251.3 - 11 2595 c.1762G>A c.(1762-1764)Ggt>Agt p.G588S PROSER1_ENST00000484434.2_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.G566S NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 588 Ser-rich. TCTGAGGTACCTGGGTGGGGG 0.532000 30 73 0 0 0.002836 0 0 POM121 9883 broad.mit.edu 37 7 72413768 72413768 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:72413768C>T ENST00000395270.1 + 14 3482 c.2441C>T c.(2440-2442)aCc>aTc p.T814I POM121_ENST00000434423.2_Missense_Mutation_p.T1079I|POM121_ENST00000358357.3_Missense_Mutation_p.T814I|POM121_ENST00000446813.1_Missense_Mutation_p.T814I|POM121_ENST00000257622.4_Missense_Mutation_p.T814I NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 1079 Pore side (Potential).|Thr-rich. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) ACCACCCAGACCGCCAGCAGC 0.672000 10 22 0 0 0.008291 0 0 SLC1A6 6511 broad.mit.edu 37 19 15067400 15067400 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15067400G>A ENST00000430939.2 - 6 994 c.865C>T c.(865-867)Cat>Tat p.H289Y SLC1A6_ENST00000221742.3_Missense_Mutation_p.H353Y|SLC1A6_ENST00000600144.1_Intron P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 353 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) ATGCCGGCATGGAGGAACAGG 0.587000 19 23 0 0 0.007413 0 0 THRB 7068 broad.mit.edu 37 3 24164584 24164584 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:24164584C>T ENST00000396671.2 - 11 1525 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K THRB_ENST00000280696.5_Missense_Mutation_p.E408K|THRB_ENST00000416420.1_Missense_Mutation_p.E393K|THRB_ENST00000356447.4_Missense_Mutation_p.E393K NM_001128176.2 NP_001121648.1 P10828 THB_HUMAN thyroid hormone receptor, beta 393 Interaction with NR2F6.|Ligand-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) TGGTACTTTTCTATTCTCTCA 0.473000 20 50 0 0 0.010504 0 0 NPAS1 4861 broad.mit.edu 37 19 47548651 47548651 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:47548651G>A ENST00000602212.1 + 12 1735 c.1515G>A c.(1513-1515)caG>caA p.Q505Q NPAS1_ENST00000449844.2_Silent_p.Q505Q|NPAS1_ENST00000439365.2_3'UTR|NPAS1_ENST00000602189.1_Silent_p.Q330Q Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 505 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) TCCTGAAGCAGGATCCGGTGC 0.731000 7 21 0 0 0.003080 0 0 EMB 133418 broad.mit.edu 37 5 49706754 49706754 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:49706754G>A ENST00000303221.5 - 4 644 c.429C>T c.(427-429)ttC>ttT p.F143F EMB_ENST00000514111.1_Silent_p.F93F|EMB_ENST00000508934.1_Silent_p.F89F|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 143 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) CCTCTCGAAAGAAACAAGAAT 0.289000 8 15 0 0 0.008291 0 0 HDAC9 9734 broad.mit.edu 37 7 18975558 18975558 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:18975558G>A ENST00000406451.3 + 23 3071 c.2921G>A c.(2920-2922)gGa>gAa p.G974E HDAC9_ENST00000401921.1_Missense_Mutation_p.G933E|HDAC9_ENST00000432645.2_Missense_Mutation_p.G974E|HDAC9_ENST00000441542.2_Missense_Mutation_p.G977E NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 974 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) GCCCTTCTAGGAAATGAGGTA 0.408000 21 63 0 0 0.010504 0 0 SMAD1 4086 broad.mit.edu 37 4 146460988 146460988 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:146460988G>A ENST00000515385.1 + 3 975 c.433G>A c.(433-435)Gaa>Aaa p.E145K SMAD1_ENST00000302085.4_Missense_Mutation_p.E145K|SMAD1_ENST00000394092.2_Missense_Mutation_p.E145K Q15797 SMAD1_HUMAN SMAD family member 1 145 BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 17 all_hematologic(180;0.151) AAGACACAGCGAATATAATCC 0.413000 11 27 0 0 0.001368 0 0 OTX2 5015 broad.mit.edu 37 14 57268930 57268930 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:57268930G>A ENST00000339475.5 - 5 693 c.417C>T c.(415-417)ttC>ttT p.F139F OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000555006.1_Silent_p.F131F|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Silent_p.F131F NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3 NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1 P32243 OTX2_HUMAN orthodenticle homeobox 2 131 axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1) 19 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) AGGGGGGAGTGAATTGGCCAC 0.527000 19 23 0 0 0.006122 0 0 PCLO 27445 broad.mit.edu 37 7 82785521 82785521 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:82785521C>T ENST00000423517.2 - 2 773 c.436G>A c.(436-438)Gaa>Aaa p.E146K PCLO_ENST00000333891.8_Missense_Mutation_p.E146K NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 146 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 TTGTGCTCTTCCTTTAAATCA 0.403000 11 33 0 0 0.008291 0 0 ATP9B 374868 broad.mit.edu 37 18 77108142 77108142 + Missense_Mutation SNP C C T rs141754612 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:77108142C>T ENST00000426216.2 + 25 2866 c.2849C>T c.(2848-2850)tCc>tTc p.S950F ATP9B_ENST00000543761.1_Missense_Mutation_p.S271F|ATP9B_ENST00000307671.7_Missense_Mutation_p.S950F NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 950 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GCTGTGTTTTCCTCAGTCTTC 0.557000 23 58 0 0 0.003954 0 0 IL31RA 133396 broad.mit.edu 37 5 55204257 55204257 + Missense_Mutation SNP G G A rs118134673 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:55204257G>A ENST00000396836.2 + 11 1711 c.1519G>A c.(1519-1521)Gaa>Aaa p.E507K IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000297015.3_Missense_Mutation_p.E365K|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000447346.2_Intron Q8NI17 IL31R_HUMAN interleukin 31 receptor A 475 Fibronectin type-III 5. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CGCCCATAGCGAAGTGGAAAA 0.468000 8 19 0 0 0.003080 0 0 DNAH5 1767 broad.mit.edu 37 5 13928256 13928256 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13928256C>T ENST00000265104.4 - 3 328 c.224G>A c.(223-225)gGa>gAa p.G75E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 75 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCGGAGACCTCCAACAGCAAA 0.338000 Kartagener syndrome 11 42 0 0 0.001855 0 0 SULF1 23213 broad.mit.edu 37 8 70515487 70515487 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:70515487C>T ENST00000260128.4 + 11 1839 c.1122C>T c.(1120-1122)ctC>ctT p.L374L SULF1_ENST00000402687.4_Silent_p.L374L|SULF1_ENST00000458141.2_Silent_p.L374L|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Silent_p.L374L NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 374 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTGCTGGGCTCGACACACCTC 0.547000 19 57 0 0 0.007413 0 0 APCS 325 broad.mit.edu 37 1 159558454 159558454 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:159558454G>A ENST00000255040.2 + 2 725 c.628G>A c.(628-630)Gaa>Aaa p.E210K NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 210 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TCTGAACTATGAAATCAGAGG 0.488000 11 45 0 0 0.002450 0 0 SPAM1 6677 broad.mit.edu 37 7 123593715 123593715 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:123593715C>T ENST00000340011.5 + 3 448 c.91C>T c.(91-93)Cca>Tca p.P31S SPAM1_ENST00000439500.1_Missense_Mutation_p.P31S|SPAM1_ENST00000402183.2_Missense_Mutation_p.P31S|SPAM1_ENST00000460182.1_Missense_Mutation_p.P31S|SPAM1_ENST00000223028.7_Missense_Mutation_p.P31S NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 31 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CCTTCTGATTCCATGTTGCTT 0.403000 9 18 0 0 0.006214 0 0 PAPPA 5069 broad.mit.edu 37 9 119115177 119115177 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:119115177C>T ENST00000328252.3 + 16 4526 c.4157C>T c.(4156-4158)tCc>tTc p.S1386F PAPPA_ENST00000534838.1_Missense_Mutation_p.S424F NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1386 Sushi 3. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 GTGCCTGGATCCTCTCGGAAG 0.517000 3 10 0 0 0.009096 0 0 GLMN 11146 broad.mit.edu 37 1 92713505 92713505 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:92713505G>A ENST00000370360.3 - 17 1596 c.1515C>T c.(1513-1515)ttC>ttT p.F505F GLMN_ENST00000534881.1_Silent_p.F491F NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 505 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) GTGGCTTTAAGAAATTATTCT 0.289000 Multiple Glomus Tumors (of the Skin), Familial 7 37 0 0 0.008291 0 0 FGA 2243 broad.mit.edu 37 4 155508061 155508061 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:155508061C>T ENST00000302053.3 - 5 598 c.520G>A c.(520-522)Gat>Aat p.D174N FGA_ENST00000403106.3_Missense_Mutation_p.D174N NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 174 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ATCTTAATATCAATGTCCACC 0.398000 11 33 0 0 0.001368 0 0 PCDH15 65217 broad.mit.edu 37 10 55582031 55582031 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:55582031G>A ENST00000361849.3 - 34 5855 c.5461C>T c.(5461-5463)Cct>Tct p.P1821S PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1779S|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1819S|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1750S|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1796S|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1816S NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1819 Poly-Pro. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) ggtggtggaggaagaggagtt 0.483000 HNSCC(58;0.16) 6 19 0 0 0.001168 0 0 HOXD13 3239 broad.mit.edu 37 2 176959406 176959406 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:176959406G>A ENST00000392539.3 + 2 980 c.980G>A c.(979-981)cGa>cAa p.R327Q NM_000523.3 NP_000514.2 P35453 HXD13_HUMAN homeobox D13 327 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) TTTCAGAACCGAAGAGTGAAG 0.468000 T NUP98 AML* 9 26 0 0 0.006214 0 0 UCP3 7352 broad.mit.edu 37 11 73712518 73712518 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:73712518G>A ENST00000314032.4 - 7 1430 c.878C>T c.(877-879)aCc>aTc p.T293I UCP3_ENST00000348534.4_Missense_Mutation_p.T191I NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 293 Purine nucleotide binding (By similarity). mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) CTGCTCATAGGTTACGAACAT 0.478000 7 24 0 0 0.003080 0 0 SPAG16 79582 broad.mit.edu 37 2 214727214 214727214 + Missense_Mutation SNP C C G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:214727214C>G ENST00000331683.5 + 11 1171 c.1076C>G c.(1075-1077)tCc>tGc p.S359C SPAG16_ENST00000374309.3_Missense_Mutation_p.S265C NM_024532.4 NP_078808.3 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 359 cilium assembly cilium axoneme|flagellar axoneme endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 56 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) CGCAGTGTCTCCATGCAACCC 0.448000 15 37 0 0 0.003163 0 0 SLC30A8 169026 broad.mit.edu 37 8 118174004 118174004 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:118174004C>T ENST00000427715.2 + 8 887 c.453C>T c.(451-453)tgC>tgT p.C151C SLC30A8_ENST00000456015.2_Silent_p.C200C|SLC30A8_ENST00000521243.1_Silent_p.C151C|SLC30A8_ENST00000519688.1_Silent_p.C151C NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 200 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ACCAGAGATGCCTTGGCCACA 0.443000 69 188 0 0 0.003610 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12837676 12837676 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12837676G>A ENST00000357726.4 + 3 1413 c.1386G>A c.(1384-1386)agG>agA p.R462R NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 462 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGGCATCAGGGCCTCCTATG 0.502000 21 64 0 0 0.002299 0 0 GABRA1 2554 broad.mit.edu 37 5 161277864 161277864 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:161277864C>T ENST00000428797.2 + 3 403 c.48C>T c.(46-48)ctC>ctT p.L16L GABRA1_ENST00000437025.2_Silent_p.L16L|GABRA1_ENST00000444819.1_Silent_p.L16L|GABRA1_ENST00000393943.4_Silent_p.L16L|GABRA1_ENST00000023897.6_Silent_p.L16L|GABRA1_ENST00000420560.1_Silent_p.L16L NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 16 gamma-aminobutyric acid signaling pathway|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 NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CCTGGATCCTCCTTCTGAGCA 0.423000 13 55 0 0 0.003163 0 0 PARD3 56288 broad.mit.edu 37 10 34759085 34759085 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:34759085G>A ENST00000374789.3 - 4 835 c.510C>T c.(508-510)ccC>ccT p.P170P PARD3_ENST00000545693.1_Silent_p.P170P|PARD3_ENST00000374794.3_Silent_p.P170P|PARD3_ENST00000374788.3_Silent_p.P170P|PARD3_ENST00000374790.3_Silent_p.P170P|PARD3_ENST00000350537.4_Silent_p.P170P|PARD3_ENST00000545260.1_Silent_p.P170P|PARD3_ENST00000346874.4_Silent_p.P170P|PARD3_ENST00000374776.1_Silent_p.P170P|PARD3_ENST00000340077.5_Silent_p.P170P|PARD3_ENST00000374773.1_Silent_p.P170P NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 170 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ACCAGCGTGTGGGATTTTTCC 0.493000 29 44 0 0 0.006320 0 0 CHST1 8534 broad.mit.edu 37 11 45671428 45671428 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:45671428G>A ENST00000308064.2 - 4 1716 c.1046C>T c.(1045-1047)aCc>aTc p.T349I NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 349 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GTTTCGCACGGTGCCGTATTT 0.667000 21 47 0 0 0.002780 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831773 2831773 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:2831773C>T ENST00000356331.5 + 8 1401 c.1140C>T c.(1138-1140)ccC>ccT p.P380P SH3BP2_ENST00000511747.1_Silent_p.P380P|SH3BP2_ENST00000452765.2_Silent_p.P380P|SH3BP2_ENST00000435136.2_Silent_p.P380P|SH3BP2_ENST00000503393.2_Silent_p.P437P|SH3BP2_ENST00000442312.2_Silent_p.P408P NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 380 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) TTGTGCCCCCCGTGGCTCCCC 0.687000 Cherubism 11 33 0 0 0.000978 0 0 MYH2 4620 broad.mit.edu 37 17 10429959 10429959 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10429959C>T ENST00000245503.5 - 30 4528 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K MYH2_ENST00000397183.2_Missense_Mutation_p.E1382K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1382 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GCGTCCGTCTCGTATTTGGTC 0.532000 43 87 0 0 0.003610 0 0 SLC25A52 147407 broad.mit.edu 37 18 29340052 29340052 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:29340052G>A ENST00000269205.5 - 1 791 c.603C>T c.(601-603)ttC>ttT p.F201F SLC25A52_ENST00000579441.2_Silent_p.F191F NM_001034172.2 NP_001029344.3 Q3SY17 MCAR2_HUMAN solute carrier family 25, member 52 191 transport integral to membrane|mitochondrial inner membrane p.F191F(1)|p.F201F(1) CTCGAAGGCCGAAAAACAAGA 0.473000 15 40 0 0 0.008871 0 0 DGKG 1608 broad.mit.edu 37 3 185983042 185983042 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:185983042G>A ENST00000265022.3 - 14 1802 c.1263C>T c.(1261-1263)gtC>gtT p.V421V DGKG_ENST00000344484.4_Silent_p.V421V|DGKG_ENST00000382164.4_Silent_p.V382V|DGKG_ENST00000544847.1_Intron NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 421 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 breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) GTACCTGCATGACAAGTTCGC 0.507000 7 18 0 0 0.003080 0 0 CKAP4 10970 broad.mit.edu 37 12 106633345 106633345 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:106633345G>A ENST00000378026.4 - 2 1402 c.1266C>T c.(1264-1266)tcC>tcT p.S422S NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 422 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CCACCTGCATGGAGAGCACCC 0.657000 11 60 0 0 0.000978 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242178 5242178 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:5242178G>A ENST00000274181.7 + 17 2674 c.2536G>A c.(2536-2538)Gga>Aga p.G846R NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 846 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCTGTTTCAGGGAAGGAACCC 0.488000 9 40 0 0 0.008291 0 0 PLCD3 113026 broad.mit.edu 37 17 43196366 43196366 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:43196366G>A ENST00000322765.5 - 5 842 c.729C>T c.(727-729)atC>atT p.I243I PLCD3_ENST00000540511.1_5'UTR NM_133373.3 NP_588614.1 Q8N3E9 PLCD3_HUMAN phospholipase C, delta 3 243 EF-hand 2. intracellular signal transduction|lipid catabolic process cleavage furrow|cytoplasm|membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 17 Phosphatidylserine(DB00144) GGAACTCCTCGATCTCAGCCC 0.642000 5 7 0 0 0.001168 0 0 OR2L2 26246 broad.mit.edu 37 1 248201644 248201644 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:248201644C>T ENST00000366479.2 + 1 171 c.75C>T c.(73-75)ttC>ttT p.F25F OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTGGCCTTTTCGTATTCACCC 0.378000 29 80 0 0 0.008361 0 0 NLRP4 147945 broad.mit.edu 37 19 56369516 56369516 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56369516G>A ENST00000301295.6 + 3 1179 c.757G>A c.(757-759)Gag>Aag p.E253K NLRP4_ENST00000346986.5_Missense_Mutation_p.E253K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E178K NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 253 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TGACTTGATGGAGAAACGGCC 0.572000 31 62 0 0 0.004289 0 0 ELK4 2005 broad.mit.edu 37 1 205589662 205589662 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:205589662G>A ENST00000357992.4 - 3 851 c.512C>T c.(511-513)cCa>cTa p.P171L ELK4_ENST00000289703.4_Missense_Mutation_p.P171L NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) TTTCTCGGCTGGATTCTCAGT 0.418000 T SLC45A3 prostate 13 26 0 0 0.002450 0 0 LRBA 987 broad.mit.edu 37 4 151773485 151773485 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:151773485G>A ENST00000535741.1 - 23 3850 c.3377C>T c.(3376-3378)cCc>cTc p.P1126L LRBA_ENST00000507224.1_Missense_Mutation_p.P1126L|LRBA_ENST00000510413.1_Missense_Mutation_p.P1126L|LRBA_ENST00000357115.3_Missense_Mutation_p.P1126L P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1126 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GAGCTCTGTGGGTAGATTAGC 0.398000 12 28 0 0 0.002450 0 0 METTL22 79091 broad.mit.edu 37 16 8732970 8732970 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:8732970C>T ENST00000381920.3 + 6 981 c.723C>T c.(721-723)tcC>tcT p.S241S METTL22_ENST00000561758.1_Silent_p.S185S|METTL22_ENST00000568967.1_3'UTR NM_024109.2 NP_077014.2 Q9BUU2 MET22_HUMAN methyltransferase like 22 241 methyltransferase activity large_intestine(5)|lung(4) 9 ATCTCTTGTCCATGTGCCAGC 0.542000 16 32 0 0 0.006122 0 0 DNAH5 1767 broad.mit.edu 37 5 13839615 13839615 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13839615G>A ENST00000265104.4 - 35 5836 c.5732C>T c.(5731-5733)cCc>cTc p.P1911L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1911 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAGTCCATGGGACTCTTGAT 0.358000 Kartagener syndrome 17 28 0 0 0.006122 0 0 LEMD2 221496 broad.mit.edu 37 6 33752165 33752165 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:33752165G>A ENST00000293760.5 - 3 836 c.817C>T c.(817-819)Ctg>Ttg p.L273L LEMD2_ENST00000508327.1_5'UTR NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 273 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 AGTTCATGCAGCAGCTCCAGC 0.572000 17 45 0 0 0.004990 0 0 EFCAB6 64800 broad.mit.edu 37 22 43933284 43933284 + Missense_Mutation SNP C C T rs149931639 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:43933284C>T ENST00000262726.7 - 29 4274 c.4021G>A c.(4021-4023)Ggg>Agg p.G1341R EFCAB6_ENST00000396231.2_Missense_Mutation_p.G1189R|EFCAB6_ENST00000461800.1_5'UTR NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 1341 Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTGATGTCCCCCTGTCTGGCC 0.557000 24 77 0 0 0.006320 0 0 CSMD2 114784 broad.mit.edu 37 1 34015943 34015943 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:34015943G>A ENST00000373381.4 - 56 8927 c.8751C>T c.(8749-8751)tcC>tcT p.S2917S NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2892 Sushi 21. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GATGGCCACAGGACACCACTG 0.562000 10 33 0 0 0.006214 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454988 84454988 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:84454988C>T ENST00000377084.2 - 1 1540 c.655G>A c.(655-657)Gat>Aat p.D219N NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 219 LRRCT 1. integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GAGAGCAGATCACAGGTGCAG 0.547000 9 27 0 0 0.004482 0 0 UCHL1 7345 broad.mit.edu 37 4 41265263 41265263 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:41265263C>T ENST00000284440.4 + 7 625 c.481C>T c.(481-483)Cat>Tat p.H161Y UCHL1_ENST00000508768.1_Missense_Mutation_p.H145Y|UCHL1_ENST00000512788.1_Missense_Mutation_p.H161Y|UCHL1_ENST00000503431.1_Missense_Mutation_p.H161Y NM_004181.4 NP_004172.2 P09936 UCHL1_HUMAN ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 161 cell death|negative regulation of MAP kinase activity|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus|plasma membrane alpha-2A adrenergic receptor binding|cysteine-type endopeptidase activity|ligase activity|omega peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity p.H161Y(1) central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(2) 8 GGTGAATTTCCATTTTATTCT 0.333000 14 39 0 0 0.004007 0 0 NLRP11 204801 broad.mit.edu 37 19 56319282 56319282 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56319282C>T ENST00000443188.1 - 6 2650 c.1940G>A c.(1939-1941)gGt>gAt p.G647D NLRP11_ENST00000589093.1_Missense_Mutation_p.G647D|NLRP11_ENST00000589824.2_Intron|NLRP11_ENST00000360133.3_Intron|NLRP11_ENST00000592953.1_Missense_Mutation_p.G548D NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 647 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TTCTGAAATACCATTAAGGTC 0.433000 21 48 0 0 0.002299 0 0 CENPE 1062 broad.mit.edu 37 4 104079922 104079922 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:104079922C>T ENST00000265148.3 - 23 2812 c.2723G>A c.(2722-2724)aGg>aAg p.R908K CENPE_ENST00000380026.3_Missense_Mutation_p.R883K NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 908 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TGTTTTCTCCCTTTCTACAGT 0.358000 9 18 0 0 0.006214 0 0 SVOPL 136306 broad.mit.edu 37 7 138312112 138312112 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:138312112G>A ENST00000421622.1 - 8 1012 c.804C>T c.(802-804)ctC>ctT p.L268L SVOPL_ENST00000436657.1_Silent_p.L236L|SVOPL_ENST00000419765.3_Silent_p.L388L|SVOPL_ENST00000463557.1_5'UTR|SVOPL_ENST00000288513.5_Silent_p.L236L Q8N434 SVOPL_HUMAN SVOP-like 388 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 TGCAAATGTTGAGGAGAAGGA 0.413000 3 11 0 0 0.009096 0 0 PRIMA1 145270 broad.mit.edu 37 14 94203587 94203587 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94203587C>T ENST00000393140.1 - 4 461 c.359_splice c.e4+1 p.R120_splice PRIMA1_ENST00000316227.3_Splice_Site_p.R120_splice|PRIMA1_ENST00000393143.1_Splice_Site_p.R120_splice NM_178013.3 NP_821092.1 Q86XR5 PRIMA_HUMAN proline rich membrane anchor 1 120 neurotransmitter catabolic process cell junction|integral to membrane|synapse endometrium(1)|large_intestine(2)|lung(3)|skin(1) 7 all_cancers(154;0.127) Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229) GAGCACTCACCTTTTTATGGC 0.493000 4 19 0 0 0.009096 0 0 COL6A3 1293 broad.mit.edu 37 2 238275439 238275439 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:238275439G>A ENST00000295550.4 - 11 5843 c.5391C>T c.(5389-5391)ttC>ttT p.F1797F COL6A3_ENST00000347401.3_Silent_p.F1596F|COL6A3_ENST00000472056.1_Silent_p.F1190F|COL6A3_ENST00000409809.1_Silent_p.F1591F|COL6A3_ENST00000353578.4_Silent_p.F1591F|COL6A3_ENST00000346358.4_Silent_p.F1597F NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1797 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TGCCCACGCGGAACGCTGTGG 0.547000 10 31 0 0 0.006214 0 0 PRB1 5542 broad.mit.edu 37 12 11506747 11506747 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:11506747G>A ENST00000500254.2 - 3 327 c.290C>T c.(289-291)cCa>cTa p.P97L PRB1_ENST00000545626.1_Missense_Mutation_p.P97L|PRB1_ENST00000546254.1_Missense_Mutation_p.P97L NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 280 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGTCCTTGTGGTTTTCCTGG 0.607000 83 359 0 0 0.003610 0 0 MAP3K4 4216 broad.mit.edu 37 6 161510469 161510469 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:161510469A>G ENST00000392142.4 + 11 3087 c.2939A>G c.(2938-2940)cAg>cGg p.Q980R MAP3K4_ENST00000366920.2_Missense_Mutation_p.Q980R|MAP3K4_ENST00000366919.2_Missense_Mutation_p.Q980R|MAP3K4_ENST00000348824.7_Missense_Mutation_p.Q980R NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 980 activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) ACATCCAGTCAGCCGGTCATC 0.463000 25 106 0 0 0.008361 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102312120 102312120 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:102312120C>T ENST00000561463.1 + 0 13488 CTCCCCTGCCCCTGCCTGCCC 0.622000 18 80 0 0 0.008871 0 0 ASTN2 23245 broad.mit.edu 37 9 119976662 119976662 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:119976662T>C ENST00000313400.4 - 3 1090 c.990A>G c.(988-990)gaA>gaG p.E330E ASTN2_ENST00000373996.3_Silent_p.E330E|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Silent_p.E330E O75129 ASTN2_HUMAN astrotactin 2 330 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CCACCTTCTCTTCCCCTGGAT 0.567000 25 57 0 0 0.003954 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6311588 6311588 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:6311588C>T ENST00000400104.3 - 3 237 c.37G>A c.(37-39)Gat>Aat p.D13N L3MBTL4_ENST00000284898.6_Missense_Mutation_p.D13N|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.D13N|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.D13N Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 13 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TCTTTGGAATCCATATTAAGC 0.483000 40 138 0 0 0.007835 0 0 KCNT2 343450 broad.mit.edu 37 1 196438156 196438156 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196438156C>T ENST00000367433.5 - 6 528 c.427G>A c.(427-429)Gaa>Aaa p.E143K KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.E143K|KCNT2_ENST00000367431.4_Missense_Mutation_p.E143K Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 143 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 TTAATTATTTCCAAGATGAAG 0.313000 5 8 0 0 0.001984 0 0 TLR10 81793 broad.mit.edu 37 4 38775011 38775011 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:38775011G>A ENST00000308973.4 - 4 2806 c.2201C>T c.(2200-2202)cCa>cTa p.P734L TLR10_ENST00000508334.1_Missense_Mutation_p.P734L|TLR10_ENST00000506111.1_Missense_Mutation_p.P734L|TLR10_ENST00000361424.2_Missense_Mutation_p.P734L NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 734 TIR. inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2) 25 GCAATAGAATGGAATGGGTTC 0.403000 19 30 0 0 0.002780 0 0 LCE1A 353131 broad.mit.edu 37 1 152800038 152800038 + Silent SNP C C T rs4990420 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152800038C>T ENST00000335123.2 + 1 90 c.90C>T c.(88-90)ccC>ccT p.P30P NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 30 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) ctaagtgccccccaaagtgtc 0.672000 13 34 0 0 0.001855 0 0 DNAH7 56171 broad.mit.edu 37 2 196891521 196891521 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:196891521C>T ENST00000312428.6 - 7 730 c.630G>A c.(628-630)atG>atA p.M210I DNAH7_ENST00000410072.1_Missense_Mutation_p.M210I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 210 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AATCCTCTCTCATTTCATCAG 0.328000 3 15 0 0 0.009096 0 0 AVPR1B 553 broad.mit.edu 37 1 206224958 206224958 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:206224958C>T ENST00000367126.4 + 1 983 c.518C>T c.(517-519)tCc>tTc p.S173F NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 173 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TTCATTTTTTCCCTGCGGGAG 0.652000 24 32 0 0 0.003954 0 0 ESPNP 284729 broad.mit.edu 37 1 17046556 17046556 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:17046556G>A ENST00000492551.1 - 0 96 NR_026567.1 GCCGCGGTGGGATCCCCACCG 0.597000 12 90 0 0 0.001855 0 0 OR4X2 119764 broad.mit.edu 37 11 48267238 48267238 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:48267238G>A ENST00000302329.3 + 1 631 c.583G>A c.(583-585)Gga>Aga p.G195R NM_001004727.1 NP_001004727.1 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, member 2 195 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TGTTGCCAATGGAGGCACCCT 0.498000 43 94 0 0 0.002522 0 0 NOD1 10392 broad.mit.edu 37 7 30494798 30494798 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:30494798G>A ENST00000222823.4 - 5 856 c.331C>T c.(331-333)Cct>Tct p.P111S NOD1_ENST00000423334.2_Missense_Mutation_p.P111S NM_006092.2 NP_006083.1 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain containing 1 111 activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 AGCAGGGAAGGGGAGAAGCCG 0.617000 13 39 0 0 0.002450 0 0 ABCA4 24 broad.mit.edu 37 1 94473808 94473808 + Missense_Mutation SNP C C T rs142253670 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:94473808C>T ENST00000370225.3 - 42 5967 c.5881G>A c.(5881-5883)Gga>Aga p.G1961R ABCA4_ENST00000535881.1_Missense_Mutation_p.G80R|ABCA4_ENST00000536513.1_Missense_Mutation_p.G231R|ABCA4_ENST00000465352.1_5'UTR NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1961 ABC transporter 2. G -> E (in STGD1 and FFM; frequent mutation; may be associated with ARMD2; inhibition of ATP hydrolysis by retinal; dbSNP:rs1800553). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGGCGAACTCCGACACACAGC 0.562000 13 41 0 0 0.002450 0 0 ASCC3 10973 broad.mit.edu 37 6 101173462 101173462 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:101173462C>T ENST00000369162.2 - 11 2199 c.1855G>A c.(1855-1857)Gat>Aat p.D619N ASCC3_ENST00000522650.1_Missense_Mutation_p.D619N NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 619 Helicase ATP-binding 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) GGTCCTCTATCTTCATGCAGC 0.378000 8 46 0 0 0.004482 0 0 ZNF222 7673 broad.mit.edu 37 19 44536578 44536578 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:44536578C>T ENST00000187879.8 + 4 913 c.751C>T c.(751-753)Cat>Tat p.H251Y ZNF222_ENST00000391960.3_Missense_Mutation_p.H291Y|ZNF223_ENST00000591793.1_Intron NM_013360.2 NP_037492.2 Q9UK12 ZN222_HUMAN zinc finger protein 222 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 Prostate(69;0.0435) TCACAGAATTCATACTGGGGA 0.393000 24 44 0 0 0.003954 0 0 INTU 27152 broad.mit.edu 37 4 128627808 128627808 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:128627808C>T ENST00000335251.5 + 12 2058 c.1955C>T c.(1954-1956)cCc>cTc p.P652L NM_015693.3 NP_056508.2 Q9ULD6 PDZD6_HUMAN inturned planar cell polarity protein 652 breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 43 TCTCCAGTCCCCTGTTTGTCT 0.458000 29 55 0 0 0.006320 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47115627 47115627 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:47115627C>T ENST00000290341.3 + 6 833 c.499C>T c.(499-501)Cgc>Tgc p.R167C IGF2BP1_ENST00000431824.2_Intron NM_006546.3 NP_006537.3 Q9NZI8 IF2B1_HUMAN insulin-like growth factor 2 mRNA binding protein 1 167 CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGAGAATGGGCGCCGAGGGGG 0.637000 13 53 0 0 0.004007 0 0 XKR4 114786 broad.mit.edu 37 8 56436558 56436558 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:56436558G>A ENST00000327381.5 + 3 1825 c.1725G>A c.(1723-1725)gtG>gtA p.V575V NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 575 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TCTTTCAAGTGAGGCCCACTG 0.532000 17 48 0 0 0.008871 0 0 CATSPERB 79820 broad.mit.edu 37 14 92136196 92136196 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:92136196G>A ENST00000256343.3 - 14 1405 c.1249C>T c.(1249-1251)Cat>Tat p.H417Y NM_024764.2 NP_079040.2 Q9H7T0 CTSRB_HUMAN catsper channel auxiliary subunit beta 417 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane p.H417Y(1) NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2) 54 all_cancers(154;0.0663)|all_epithelial(191;0.236) CTTCGGGGATGAAATACCATT 0.408000 7 25 0 0 0.001984 0 0 SPTA1 6708 broad.mit.edu 37 1 158609395 158609395 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:158609395C>T ENST00000368148.3 - 35 5137 c.4957G>A c.(4957-4959)Gag>Aag p.E1653K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1653K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1653 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) ATCTCTCTCTCCAATAGCTGA 0.483000 21 71 0 0 0.006320 0 0 ANXA9 8416 broad.mit.edu 37 1 150960762 150960762 + Missense_Mutation SNP C C T rs150067239 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:150960762C>T ENST00000368947.4 + 12 1273 c.797C>T c.(796-798)tCg>tTg p.S266L NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 266 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCCAGCTTCGGTGATCAAG 0.517000 16 53 0 0 0.010504 0 0 FRK 2444 broad.mit.edu 37 6 116263665 116263665 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:116263665C>T ENST00000606080.1 - 8 1876 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q FRK_ENST00000538210.1_Missense_Mutation_p.R335Q NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 477 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) AAATGTAGGTCGTTCCTTAGG 0.408000 14 60 0 0 0.003163 0 0 MYH6 4624 broad.mit.edu 37 14 23869930 23869930 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:23869930G>A ENST00000405093.3 - 13 1468 c.1398C>T c.(1396-1398)ttC>ttT p.F466F MYH6_ENST00000356287.3_Silent_p.F466F NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 466 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGAAGATCTCGAAGCCAGCGA 0.552000 12 32 0 0 0.001855 0 0 PRRX1 5396 broad.mit.edu 37 1 170699432 170699432 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:170699432C>T ENST00000367760.3 + 4 1699 c.614C>T c.(613-615)cCa>cTa p.P205L PRRX1_ENST00000476867.2_Intron|PRRX1_ENST00000239461.6_Intron NM_006902.3 NP_008833.1 P54821 PRRX1_HUMAN paired related homeobox 1 0 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity large_intestine(2)|ovary(1) 3 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TCGTCCCTCCCAAGATGTTGT 0.493000 33 105 0 0 0.003271 0 0 MUC16 94025 broad.mit.edu 37 19 9074844 9074844 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9074844C>T ENST00000397910.4 - 3 12805 c.12602G>A c.(12601-12603)gGg>gAg p.G4201E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4203 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGGTCTTCCCCAGGCCAGA 0.502000 4 25 0 0 0.001168 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400783 49400783 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:49400783C>T ENST00000374201.3 - 16 2411 c.2109G>A c.(2107-2109)atG>atA p.M703I FRMPD2_ENST00000305531.3_Missense_Mutation_p.M678I|FRMPD2_ENST00000407470.4_Missense_Mutation_p.M671I NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 703 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TGAAGTTATCCATTGATGTAC 0.527000 13 40 0 0 0.002450 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558451 140558451 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140558451C>T ENST00000239444.2 + 1 1081 c.836C>T c.(835-837)tCc>tTc p.S279F NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 279 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S279F(1) NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGAGATTTCCTATTCACTT 0.413000 21 129 0 0 0.010504 0 0 MEP1A 4224 broad.mit.edu 37 6 46787402 46787402 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46787402G>A ENST00000230588.4 + 7 526 c.517G>A c.(517-519)Gat>Aat p.D173N NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 173 Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) GACGGACCGGGATGATTATGT 0.473000 43 154 0 0 0.003610 0 0 DGKG 1608 broad.mit.edu 37 3 186038225 186038225 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:186038225G>A ENST00000265022.3 - 2 563 c.24C>T c.(22-24)tcC>tcT p.S8S DGKG_ENST00000344484.4_Silent_p.S8S|DGKG_ENST00000382164.4_Silent_p.S8S|DGKG_ENST00000544847.1_Silent_p.S8S NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 8 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 breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) CTGGAGTGAGGGAGACCCACC 0.468000 14 35 0 0 0.003163 0 0 GALNT14 79623 broad.mit.edu 37 2 31133921 31133921 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:31133921C>T ENST00000349752.5 - 15 2144 c.1505G>A c.(1504-1506)tGg>tAg p.W502* GALNT14_ENST00000420311.2_Nonsense_Mutation_p.W467*|GALNT14_ENST00000406653.1_Nonsense_Mutation_p.W482*|GALNT14_ENST00000324589.5_Nonsense_Mutation_p.W507*|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000356174.3_Nonsense_Mutation_p.W469* NM_024572.3 NP_078848.2 Q96FL9 GLT14_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) 502 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3) 43 Acute lymphoblastic leukemia(172;0.155) AGTTTTGGTCCATTGCTGGTA 0.493000 22 44 0 0 0.003330 0 0 PLG 5340 broad.mit.edu 37 6 161123340 161123340 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:161123340G>A ENST00000308192.9 + 1 67 c.4G>A c.(4-6)Gaa>Aaa p.E2K PLG_ENST00000366924.2_Missense_Mutation_p.E2K|PLG_ENST00000462918.1_3'UTR NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 2 extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) TCCCAAAATGGAACATAAGGA 0.373000 14 64 0 0 0.007413 0 0 PAK3 5063 broad.mit.edu 37 X 110391071 110391071 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:110391071C>T ENST00000519681.1 + 8 888 c.446C>T c.(445-447)tCc>tTc p.S149F PAK3_ENST00000372007.4_Missense_Mutation_p.S128F|PAK3_ENST00000425146.1_Missense_Mutation_p.S128F|PAK3_ENST00000417227.1_Missense_Mutation_p.S149F|PAK3_ENST00000518291.1_Missense_Mutation_p.S164F|PAK3_ENST00000262836.4_Missense_Mutation_p.S143F|PAK3_ENST00000360648.4_Missense_Mutation_p.S164F|PAK3_ENST00000446737.1_Missense_Mutation_p.S128F|PAK3_ENST00000372010.1_Missense_Mutation_p.S143F O75914 PAK3_HUMAN p21 protein (Cdc42/Rac)-activated kinase 3 143 Autoregulatory region (By similarity).|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 TTCTATGATTCCAAAGAAACA 0.378000 TSP Lung(19;0.15) 13 6 0 0 0.001368 0 0 LAMB1 3912 broad.mit.edu 37 7 107564460 107564460 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:107564460C>T ENST00000393561.1 - 32 5553 c.5369G>A c.(5368-5370)gGa>gAa p.G1790E LAMB1_ENST00000222399.6_Missense_Mutation_p.G1766E P07942 LAMB1_HUMAN laminin, beta 1 1766 axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGGACTTCTCCTTCCAGTCT 0.358000 6 30 0 0 0.001168 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407503 1407503 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:1407503G>A ENST00000381524.3 + 5 497 c.311G>A c.(310-312)gGa>gAa p.G104E CSF2RA_ENST00000355805.2_Missense_Mutation_p.G104E|CSF2RA_ENST00000501036.2_5'UTR|CSF2RA_ENST00000432318.2_Missense_Mutation_p.G104E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.G104E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.G104E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.G104E|CSF2RA_ENST00000381500.1_Missense_Mutation_p.G104E|CSF2RA_ENST00000417535.2_Missense_Mutation_p.G104E|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G104E P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 104 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AGTCAAAGAGGATTTCAACAG 0.443000 64 153 0 0 0.003610 0 0 SEMG2 6407 broad.mit.edu 37 20 43850392 43850392 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:43850392C>T ENST00000372769.3 + 2 209 c.119C>T c.(118-120)cCa>cTa p.P40L NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 40 sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TCCCAATTTCCACATGGACAA 0.388000 11 45 0 0 0.001368 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748110 41748110 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:41748110G>A ENST00000226382.2 - 3 1018 c.659C>T c.(658-660)cCg>cTg p.P220L NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 220 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.G216fs*88(1) autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 agctccagccgggctgggccc 0.816000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 10 24 0 0 0.006214 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895592 24895592 + Missense_Mutation SNP G G A rs146807462 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:24895592G>A ENST00000382071.2 + 4 773 c.688G>A c.(688-690)Gaa>Aaa p.E230K C1QTNF9_ENST00000332018.4_Missense_Mutation_p.E230K|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 230 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) CCTGTATAACGAATTCAACCA 0.428000 13 98 0 0 0.002450 0 0 NWD1 284434 broad.mit.edu 37 19 16860478 16860478 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16860478C>T ENST00000524140.2 + 6 1443 c.1025C>T c.(1024-1026)cCc>cTc p.P342L NWD1_ENST00000552788.1_Missense_Mutation_p.P342L|NWD1_ENST00000523826.1_Missense_Mutation_p.P136L|NWD1_ENST00000549814.1_Missense_Mutation_p.P342L|NWD1_ENST00000379808.3_Missense_Mutation_p.P342L|NWD1_ENST00000339803.6_Missense_Mutation_p.P207L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 342 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CTCTTTGGGCCCCCAGGCATT 0.632000 9 25 0 0 0.004482 0 0 CXorf22 170063 broad.mit.edu 37 X 35988949 35988949 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:35988949G>A ENST00000297866.5 + 11 1945 c.1879G>A c.(1879-1881)Gaa>Aaa p.E627K NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 627 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 TACTACATTTGAAAAACAGCA 0.289000 4 2 0 0 0.009096 0 0 HELZ2 85441 broad.mit.edu 37 20 62192983 62192983 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:62192983G>A ENST00000467148.1 - 12 6876 c.6807C>T c.(6805-6807)ccC>ccT p.P2269P HELZ2_ENST00000427522.2_Silent_p.P1700P NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TCCCCTCCCGGGGGCTCTTCC 0.662000 31 56 0 0 0.002096 0 0 PRSS3 5646 broad.mit.edu 37 9 33798597 33798597 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:33798597G>A ENST00000361005.5 + 4 739 c.739G>A c.(739-741)Gag>Aag p.E247K RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.E190K|PRSS3_ENST00000429677.3_Missense_Mutation_p.E183K|PRSS3_ENST00000495682.1_3'UTR|PRSS3_ENST00000342836.4_Missense_Mutation_p.E204K NM_007343.3 NP_031369.2 P35030 TRY3_HUMAN protease, serine, 3 247 Peptidase S1. digestion|endothelial cell migration|zymogen activation extracellular space calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 13 LUSC - Lung squamous cell carcinoma(29;0.0176) GGGCTTCCTTGAGGGAGGCAA 0.562000 8 171 0 0 0.002450 0 0 PRB4 5545 broad.mit.edu 37 12 11462321 11462321 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:11462321G>A ENST00000279575.1 - 2 116 c.83C>T c.(82-84)tCt>tTt p.S28F PRB4_ENST00000445719.2_Missense_Mutation_p.S28F|PRB4_ENST00000535904.1_Missense_Mutation_p.S28F NM_001261399.1|NM_002723.4 NP_001248328.1|NP_002714.2 P10163 PRB4_HUMAN proline-rich protein BstNI subfamily 4 28 S -> P (in Ref. 5; AA sequence). extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3) 30 TAGGAAGAGAGATTCTTCCTG 0.378000 HNSCC(22;0.051) 14 38 0 0 0.002450 0 0 HS1BP3 64342 broad.mit.edu 37 2 20838367 20838367 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:20838367G>A ENST00000402541.1 - 4 466 c.452C>T c.(451-453)tCt>tTt p.S151F HS1BP3_ENST00000304031.3_Missense_Mutation_p.S151F Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 151 cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCCAGGACAGAGGAATCTCT 0.562000 12 22 0 0 0.001855 0 0 LILRP2 79166 broad.mit.edu 37 19 55222099 55222099 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55222099C>T ENST00000413439.1 + 0 1626 GTGACCTCAGCCCACGCGGGG 0.622000 15 28 0 0 0.002450 0 0 MMRN1 22915 broad.mit.edu 37 4 90856447 90856447 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:90856447G>A ENST00000394980.1 + 7 1935 c.1616G>A c.(1615-1617)aGc>aAc p.S539N MMRN1_ENST00000264790.2_Missense_Mutation_p.S539N|MMRN1_ENST00000508372.1_Missense_Mutation_p.S281N|MMRN1_ENST00000394981.1_Intron Q13201 MMRN1_HUMAN multimerin 1 539 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.S539T(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GAGTCAGTTAGCAATAATGTC 0.363000 9 26 0 0 0.006214 0 0 TRAM2 9697 broad.mit.edu 37 6 52372354 52372354 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:52372354A>G ENST00000182527.3 - 7 622 c.623T>C c.(622-624)tTa>tCa p.L208S EFHC1_ENST00000433625.2_Intron NM_012288.3 NP_036420.1 Q15035 TRAM2_HUMAN translocation associated membrane protein 2 208 TLC. collagen biosynthetic process|protein transport|transmembrane transport integral to membrane protein binding endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1) 13 Lung NSC(77;0.109) CACTCACTTTAAGAGGTATGC 0.453000 25 29 0 0 0.004656 0 0 BRD2 6046 broad.mit.edu 37 6 32944031 32944031 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32944031C>T ENST00000395289.2 + 6 2216 c.615C>T c.(613-615)ctC>ctT p.L205L BRD2_ENST00000374831.4_Silent_p.L205L|BRD2_ENST00000374825.4_Silent_p.L205L|BRD2_ENST00000443797.2_Silent_p.L85L|BRD2_ENST00000395287.1_Silent_p.L205L|BRD2_ENST00000449085.2_Silent_p.L158L P25440 BRD2_HUMAN bromodomain containing 2 205 spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 TTCTAGCGCTCCAGGGCAGTG 0.502000 12 35 0 0 0.000978 0 0 STPG2 285555 broad.mit.edu 37 4 98480264 98480264 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:98480264G>A ENST00000295268.3 - 11 1414 c.1325C>T c.(1324-1326)tCc>tTc p.S442F STPG2_ENST00000506482.1_Intron|RP11-681L8.1_ENST00000518105.1_RNA NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 TTTCTCCTGGGATATCTGTTT 0.279000 22 61 0 0 0.003954 0 0 EXOSC5 56915 broad.mit.edu 37 19 41903149 41903149 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:41903149G>A ENST00000221233.4 - 1 235 c.85C>T c.(85-87)Cgg>Tgg p.R29W CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.R29W NM_020158.3 NP_064543.3 Q9NQT4 EXOS5_HUMAN exosome component 5 29 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 GCAAAGTGCCGGAGGCTGCAG 0.592000 33 64 0 0 0.002445 0 0 TMEM40 55287 broad.mit.edu 37 3 12790243 12790243 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:12790243G>A ENST00000314124.7 - 3 478 c.122C>T c.(121-123)tCc>tTc p.S41F TMEM40_ENST00000264728.8_Missense_Mutation_p.S41F|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.S41F|TMEM40_ENST00000431022.2_Missense_Mutation_p.S57F NM_018306.2 NP_060776.2 Q8WWA1 TMM40_HUMAN transmembrane protein 40 41 integral to membrane breast(1)|large_intestine(3)|lung(5)|urinary_tract(1) 10 TTGTTCTTGGGAAAAGAGTCC 0.517000 46 102 0 0 0.003610 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152215 11152215 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:11152215C>T ENST00000358026.2 + 31 4783 c.4499C>T c.(4498-4500)gCc>gTc p.A1500V SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1435V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1438V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1468V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1438V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1438V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1435V|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1468V NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1468 Bromo. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) ATTGTGGATGCCGTGATCAAG 0.612000 """F, N, Mis""" NSCLC 11 22 0 0 0.001855 0 0 C1QTNF8 390664 broad.mit.edu 37 16 1144728 1144728 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:1144728G>A ENST00000328449.5 - 3 468 c.195C>T c.(193-195)atC>atT p.I65I NM_207419.3 NP_997302.2 P60827 C1QT8_HUMAN C1q and tumor necrosis factor related protein 8 65 collagen lung(2)|prostate(1)|skin(1) 4 Hepatocellular(780;0.00369) TGAGGATTTCGATGTCTATAG 0.672000 13 32 0 0 0.001368 0 0 CD244 51744 broad.mit.edu 37 1 160832449 160832449 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160832449T>A ENST00000368034.4 - 1 196 c.19A>T c.(19-21)Acc>Tcc p.T7S CD244_ENST00000368033.3_Missense_Mutation_p.T7S|CD244_ENST00000322302.7_Missense_Mutation_p.T7S|CD244_ENST00000368032.2_Missense_Mutation_p.T7S NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 7 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) AGTATGAGGGTGACCACTTGC 0.642000 12 27 0 0 0.003163 0 0 APOB 338 broad.mit.edu 37 2 21231675 21231675 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:21231675G>A ENST00000233242.1 - 26 8192 c.8065C>T c.(8065-8067)Cca>Tca p.P2689S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2689 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TATATATCTGGAACGGGCCAC 0.438000 147 312 0 0 0.003610 0 0 TMPRSS12 283471 broad.mit.edu 37 12 51252788 51252788 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:51252788G>A ENST00000551456.1 + 3 649 c.604G>A c.(604-606)Gga>Aga p.G202R TMPRSS12_ENST00000398458.3_Missense_Mutation_p.G202R Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 202 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 18 AATCCTGGACGGAAACACAAA 0.348000 4 14 0 0 0.000602 0 0 JUP 3728 broad.mit.edu 37 17 39776928 39776928 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:39776928C>T ENST00000540235.1 - 9 1640 c.1641G>A c.(1639-1641)ctG>ctA p.L547L KRT17_ENST00000311208.8_Silent_p.L388L P14923 PLAK_HUMAN junction plakoglobin 0 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CCTCTCCCTCCAGCAGGCGGC 0.612000 11 39 0 0 0.001368 0 0 MMP27 64066 broad.mit.edu 37 11 102565806 102565806 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:102565806C>T ENST00000260229.4 - 7 1016 c.925G>A c.(925-927)Gat>Aat p.D309N NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 309 Hemopexin-like 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TCCGTGATATCATAATAGATC 0.403000 11 34 0 0 0.000978 0 0 RALBP1 10928 broad.mit.edu 37 18 9533365 9533365 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:9533365C>T ENST00000019317.4 + 8 1711 c.1488C>T c.(1486-1488)ctC>ctT p.L496L RALBP1_ENST00000383432.3_Silent_p.L496L Q15311 RBP1_HUMAN ralA binding protein 1 496 Interacts with RalA. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 AGGAGGAGCTCCTGGCCATGG 0.468000 19 28 0 0 0.008871 0 0 DSC2 1824 broad.mit.edu 37 18 28671022 28671022 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:28671022G>A ENST00000280904.6 - 4 886 c.443C>T c.(442-444)tCc>tTc p.S148F DSC2_ENST00000251081.6_Missense_Mutation_p.S148F NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 148 Cadherin 1. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) AGGACCCAAGGAGTTTTCTAG 0.403000 4 15 0 0 0.000602 0 0 OR4N5 390437 broad.mit.edu 37 14 20612336 20612336 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20612336C>T ENST00000333629.1 + 1 442 c.442C>T c.(442-444)Ctg>Ttg p.L148L NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) ATCGTTGGTTCTGTGGCTTGG 0.493000 41 98 0 0 0.003610 0 0 COL4A3 1285 broad.mit.edu 37 2 228137770 228137770 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:228137770G>A ENST00000396578.3 + 26 2026 c.1864G>A c.(1864-1866)Gga>Aga p.G622R AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 622 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CGGACCCCAAGGAGAACCTGG 0.627000 11 35 0 0 0.008291 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760883 186760883 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:186760883C>T ENST00000169298.3 + 4 1066 c.392C>T c.(391-393)cCa>cTa p.P131L ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P131L|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 131 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) GGGCCAGGACCAGGCATCAAG 0.488000 11 26 0 0 0.008291 0 0 COL9A1 1297 broad.mit.edu 37 6 70963122 70963122 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:70963122C>T ENST00000357250.6 - 26 1888 c.1730G>A c.(1729-1731)gGa>gAa p.G577E COL9A1_ENST00000320755.7_Missense_Mutation_p.G334E|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G334E NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 577 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACCAGGAATTCCAGGTACACC 0.368000 12 35 0 0 0.002450 0 0 SGSM1 129049 broad.mit.edu 37 22 25251354 25251354 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:25251354C>T ENST00000400358.4 + 7 683 c.626C>T c.(625-627)tCc>tTc p.S209F SGSM1_ENST00000400359.4_Missense_Mutation_p.S209F NM_001098497.1|NM_001098498.1 NP_001091967.1|NP_001091968.1 Q2NKQ1 SGSM1_HUMAN small G protein signaling modulator 1 209 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 ATCCACAGCTCCCACGTGCGG 0.622000 7 15 0 0 0.001984 0 0 OR13G1 441933 broad.mit.edu 37 1 247835886 247835886 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247835886G>A ENST00000359688.2 - 1 479 c.458C>T c.(457-459)tCc>tTc p.S153F RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTGCACCCAGGAATTGGTGAC 0.463000 9 31 0 0 0.004482 0 0 POLL 27343 broad.mit.edu 37 10 103345144 103345144 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:103345144G>A ENST00000370162.3 - 4 996 c.502C>T c.(502-504)Cct>Tct p.P168S POLL_ENST00000370169.1_Missense_Mutation_p.P168S|POLL_ENST00000370172.1_Missense_Mutation_p.P80S|POLL_ENST00000339310.3_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000436284.2_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.P168S|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 168 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) GGAGGAGGAGGAGAAAGGGCT 0.597000 DNA polymerases (catalytic subunits) 15 17 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179639101 179639101 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179639101C>T ENST00000589042.1 - 30 7114 c.6890G>A c.(6889-6891)gGa>gAa p.G2297E TTN_ENST00000342992.6_Missense_Mutation_p.G2297E|TTN_ENST00000359218.5_Missense_Mutation_p.G2251E|TTN_ENST00000460472.2_Missense_Mutation_p.G2251E|TTN_ENST00000360870.5_Missense_Mutation_p.G2297E|TTN_ENST00000342175.6_Missense_Mutation_p.G2251E|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G2297E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2015 Ig-like 12. 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) ATACCATTTTCCTTCTATATT 0.393000 19 56 0 0 0.010504 0 0 AFF2 2334 broad.mit.edu 37 X 148062317 148062317 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:148062317G>A ENST00000370460.2 + 19 4099 c.3620G>A c.(3619-3621)gGa>gAa p.G1207E AFF2_ENST00000370457.5_Missense_Mutation_p.G1172E|AFF2_ENST00000286437.5_Missense_Mutation_p.G848E|AFF2_ENST00000342251.3_Missense_Mutation_p.G1174E NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 1207 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) GTAAGCAATGGAAAGTAAGTA 0.368000 22 11 0 0 0.001882 0 0 ZNF319 57567 broad.mit.edu 37 16 58031661 58031661 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:58031661G>A ENST00000299237.2 - 2 1131 c.509C>T c.(508-510)gCt>gTt p.A170V NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CGCTGCCTCAGCTGGCTTGTA 0.622000 208 123 0 0 0.003610 0 0 PRSS38 339501 broad.mit.edu 37 1 228033839 228033839 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228033839C>T ENST00000366757.3 + 5 935 c.911C>T c.(910-912)gCt>gTt p.A304V NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 304 proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCAGCCCCTGCTCTCTCTCCA 0.532000 14 39 0 0 0.002450 0 0 NPSR1 387129 broad.mit.edu 37 7 34889193 34889193 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:34889193G>A ENST00000360581.1 + 9 1170 c.1042G>A c.(1042-1044)Gat>Aat p.D348N NPSR1_ENST00000381542.1_Missense_Mutation_p.D282N|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381539.3_Missense_Mutation_p.G381E|NPSR1_ENST00000531252.1_Intron NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 348 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) AAGATCACAGGATTCCAGAAT 0.448000 15 55 0 0 0.004990 0 0 HCP5 10866 broad.mit.edu 37 6 31431486 31431486 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:31431486G>A ENST00000414046.2 + 0 558 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 gaggccttgggaaattacctg 0.552000 18 54 0 0 0.007413 0 0 HFE 3077 broad.mit.edu 37 6 26091188 26091188 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:26091188C>T ENST00000357618.5 + 2 318 c.196C>T c.(196-198)Cgc>Tgc p.R66C HFE_ENST00000353147.5_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.R66C|HFE_ENST00000397022.3_Missense_Mutation_p.R43C|HFE_ENST00000309234.6_Missense_Mutation_p.R66C|HFE_ENST00000470149.1_Missense_Mutation_p.R66C|HFE_ENST00000352392.4_Intron|HFE_ENST00000336625.8_Missense_Mutation_p.R66C|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.R66C|HFE_ENST00000349999.4_Intron NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 66 Alpha-1. R -> C (in HFE). antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCATGAGAGTCGCCGTGTGGA 0.522000 Hemochromatosis 42 43 0 0 0.009718 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283589 40283589 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:40283589T>A ENST00000325157.6 - 2 414 c.164A>T c.(163-165)aAt>aTt p.N55I NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 55 ENTH. breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) CCACAGCATATTCATAATCTC 0.423000 21 52 0 0 0.002780 0 0 TRAV21 28662 broad.mit.edu 37 14 22521083 22521083 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:22521083G>A ENST00000390449.3 + 0 111 GTCCCAGAAGGAGAAAACTTG 0.478000 13 42 0 0 0.002450 0 0 DPYD 1806 broad.mit.edu 37 1 98164976 98164976 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:98164976G>A ENST00000370192.3 - 6 711 c.611C>T c.(610-612)tCc>tTc p.S204F DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 204 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AGCCAAAAAGGAAGCACAACT 0.393000 18 39 0 0 0.004990 0 0 OR2C1 4993 broad.mit.edu 37 16 3406086 3406086 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3406086C>T ENST00000304936.2 + 1 198 c.146C>T c.(145-147)tCc>tTc p.S49F NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ATCTTGCTTTCCCGCCTGGAG 0.512000 27 81 0 0 0.006320 0 0 PTGS1 5742 broad.mit.edu 37 9 125152608 125152608 + Silent SNP C C T rs3842800 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125152608C>T ENST00000362012.2 + 10 1433 c.1428C>T c.(1426-1428)tcC>tcT p.S476S PTGS1_ENST00000373698.5_Silent_p.S367S|PTGS1_ENST00000540753.1_Silent_p.S414S|PTGS1_ENST00000223423.4_Silent_p.S439S NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 476 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCTACACCTCCTTCCAGGAGC 0.557000 7 23 0 0 0.003080 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430981 37430981 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:37430981G>A ENST00000374660.1 + 7 1087 c.988G>A c.(988-990)Gag>Aag p.E330K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E330K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E330K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 386 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GATCGCATGGGAGAAAAAAGA 0.438000 24 44 0 0 0.004656 0 0 API5 8539 broad.mit.edu 37 11 43364037 43364037 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:43364037C>T ENST00000455725.2 + 15 1764 c.1519C>T c.(1519-1521)Cgt>Tgt p.R507C API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_3'UTR|API5_ENST00000420461.2_3'UTR|API5_ENST00000531273.1_Missense_Mutation_p.R518C|RP11-484D2.2_ENST00000526220.1_RNA Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 0 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding p.R518C(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 ACGAGGAAATCGTAGTCGGGG 0.463000 5 33 0 0 0.001168 0 0 ITPR1 3708 broad.mit.edu 37 3 4706914 4706914 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:4706914C>T ENST00000302640.8 + 16 1952 c.1602C>T c.(1600-1602)ttC>ttT p.F534F ITPR1_ENST00000357086.4_Silent_p.F549F|ITPR1_ENST00000456211.2_Silent_p.F534F|ITPR1_ENST00000423119.2_Silent_p.F549F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.F549F|ITPR1_ENST00000443694.2_Silent_p.F534F NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 549 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACGCTCCTTTCAGACACATCT 0.537000 11 35 0 0 0.008291 0 0 OVCH1 341350 broad.mit.edu 37 12 29617510 29617510 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:29617510G>A ENST00000318184.5 - 18 2054 c.2055C>T c.(2053-2055)ctC>ctT p.L685L OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 685 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CGCTGTGTGGGAGACATACTG 0.458000 10 32 0 0 0.006214 0 0 VPS13A 23230 broad.mit.edu 37 9 79890467 79890467 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:79890467C>T ENST00000360280.3 + 25 2826 c.2566C>T c.(2566-2568)Cag>Tag p.Q856* VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q856*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q856*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q856* NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 856 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 AGAACCTCTTCAGTTTCCAAC 0.313000 31 53 0 0 0.003271 0 0 GBX2 2637 broad.mit.edu 37 2 237076349 237076349 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:237076349C>T ENST00000306318.4 - 1 663 c.266G>A c.(265-267)gGc>gAc p.G89D AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_Missense_Mutation_p.G89D NM_001485.2 NP_001476.2 P52951 GBX2_HUMAN gastrulation brain homeobox 2 89 LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) GGAGCAGAAGCCTGTGGGCAG 0.771000 9 11 0 0 0.000978 0 0 SLC26A3 1811 broad.mit.edu 37 7 107408071 107408071 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:107408071C>T ENST00000340010.5 - 20 2408 c.2224G>A c.(2224-2226)Gat>Aat p.D742N SLC26A3_ENST00000422236.2_Missense_Mutation_p.D629N NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 742 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 ATGGTAAAATCAATTTTTCCA 0.323000 7 10 0 0 0.004482 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848717 92848717 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:92848717C>T ENST00000394468.2 - 2 204 c.127G>A c.(127-129)Ggc>Agc p.G43S HEPACAM2_ENST00000440868.1_Missense_Mutation_p.G31S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.G31S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.G66S NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 43 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 CCTCTGACGCCATGGACAGTG 0.512000 16 65 0 0 0.004007 0 0 SLC38A4 55089 broad.mit.edu 37 12 47186821 47186821 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:47186821C>T ENST00000447411.1 - 2 240 c.34G>A c.(34-36)Gaa>Aaa p.E12K SLC38A4_ENST00000266579.4_Missense_Mutation_p.E12K NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 12 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TCATCTGGTTCGATGTTGACA 0.443000 18 57 0 0 0.008871 0 0 NWD1 284434 broad.mit.edu 37 19 16860477 16860477 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16860477C>T ENST00000524140.2 + 6 1442 c.1024C>T c.(1024-1026)Ccc>Tcc p.P342S NWD1_ENST00000552788.1_Missense_Mutation_p.P342S|NWD1_ENST00000523826.1_Missense_Mutation_p.P136S|NWD1_ENST00000549814.1_Missense_Mutation_p.P342S|NWD1_ENST00000379808.3_Missense_Mutation_p.P342S|NWD1_ENST00000339803.6_Missense_Mutation_p.P207S NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 342 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ACTCTTTGGGCCCCCAGGCAT 0.632000 10 24 0 0 0.006214 0 0 MFSD6L 162387 broad.mit.edu 37 17 8701850 8701850 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:8701850G>A ENST00000329805.4 - 1 817 c.589C>T c.(589-591)Cat>Tat p.H197Y NM_152599.3 NP_689812.3 Q8IWD5 MFS6L_HUMAN major facilitator superfamily domain containing 6-like 197 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4) 17 TCCCAGGGATGATCTTTCAGC 0.562000 24 59 0 0 0.002780 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068513 103068513 + Missense_Mutation SNP C C T rs149244380 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:103068513C>T ENST00000264260.2 + 12 2261 c.1672C>T c.(1672-1674)Cac>Tac p.H558Y IL18RAP_ENST00000409369.1_Missense_Mutation_p.H416Y NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 558 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AATGCGCTACCACATGCCTGT 0.458000 46 76 0 0 0.003610 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805643 20805643 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:20805643G>A ENST00000577537.1 + 0 827 RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA AGACGACGACGAAGTCTCCCA 0.557000 12 31 0 0 0.001855 0 0 DCC 1630 broad.mit.edu 37 18 50976915 50976915 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:50976915C>T ENST00000442544.2 + 23 3891 c.3275C>T c.(3274-3276)cCt>cTt p.P1092L DCC_ENST00000581580.1_Missense_Mutation_p.P727L NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 1092 apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGTGTCACTCCTCAGAAGAAC 0.512000 13 36 0 0 0.001368 0 0 ENTPD8 377841 broad.mit.edu 37 9 140331429 140331429 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:140331429G>A ENST00000371506.2 - 5 630 c.447C>T c.(445-447)gtC>gtT p.V149V ENTPD8_ENST00000472938.1_Silent_p.V149V|ENTPD8_ENST00000344119.2_Silent_p.V149V NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 149 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) ACCGGCCCAGGACCTGGGTGA 0.662000 18 37 0 0 0.006122 0 0 DNAH8 1769 broad.mit.edu 37 6 38998124 38998124 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38998124C>T ENST00000359357.3 + 91 13683 c.13429C>T c.(13429-13431)Cac>Tac p.H4477Y DNAH8_ENST00000441566.1_Missense_Mutation_p.H4441Y dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GTCCCCGGATCACTGGATCCT 0.478000 23 59 0 0 0.002299 0 0 NRXN3 9369 broad.mit.edu 37 14 79454459 79454459 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:79454459T>C ENST00000554719.1 + 12 2609 c.2118T>C c.(2116-2118)tcT>tcC p.S706S NRXN3_ENST00000335750.5_Silent_p.S706S NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 0 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTATGACCTCTTATTCTGGAA 0.443000 19 29 0 0 0.002780 0 0 TAAR6 319100 broad.mit.edu 37 6 132891845 132891845 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:132891845G>A ENST00000275198.1 + 1 385 c.385G>A c.(385-387)Gac>Aac p.D129N NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 129 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CATCTCCATCGACAGGTACAT 0.483000 57 202 0 0 0.003610 0 0 ZNF597 146434 broad.mit.edu 37 16 3486612 3486612 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3486612G>A ENST00000301744.4 - 4 1322 c.1087C>T c.(1087-1089)Cat>Tat p.H363Y LA16c-306E5.2_ENST00000575785.1_RNA NM_152457.1 NP_689670.1 Q96LX8 ZN597_HUMAN zinc finger protein 597 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 TCCTCTGTATGAATGTTCtga 0.448000 4 3 0 0 0.009096 0 0 PCSK5 5125 broad.mit.edu 37 9 78947362 78947362 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:78947362G>A ENST00000545128.1 + 33 5041 c.4503G>A c.(4501-4503)gtG>gtA p.V1501V NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 671 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CAACCTGTGTGAAGGACTGCC 0.527000 9 32 0 0 0.006214 0 0 FDX1L 112812 broad.mit.edu 37 19 10421288 10421288 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:10421288G>A ENST00000393708.3 - 5 444 c.426C>T c.(424-426)ctC>ctT p.L142L FDX1L_ENST00000541276.1_Intron|FDX1L_ENST00000494368.1_Silent_p.L7L|FDX1L_ENST00000492239.1_5'UTR|CTD-2369P2.10_ENST00000452032.2_Intron NM_001031734.2 NP_001026904.1 Q6P4F2 ADXL_HUMAN ferredoxin 1-like 142 2Fe-2S ferredoxin-type. electron transport chain|transport mitochondrial matrix 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06) TCTCCTGGAGGAGGGGGGCCA 0.632000 15 39 0 0 0.004007 0 0 SEZ6 124925 broad.mit.edu 37 17 27285069 27285069 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:27285069A>T ENST00000317338.12 - 11 2626 c.2198T>A c.(2197-2199)gTg>gAg p.V733E SEZ6_ENST00000360295.9_Missense_Mutation_p.V733E|SEZ6_ENST00000442608.3_Missense_Mutation_p.V733E|SEZ6_ENST00000335960.6_Intron|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 733 Sushi 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 29 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GTAAGTGACCACGGTGCCGTG 0.612000 17 36 0 0 0.004990 0 0 ATP10D 57205 broad.mit.edu 37 4 47514830 47514830 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:47514830A>G ENST00000273859.3 + 2 542 c.273A>G c.(271-273)ttA>ttG p.L91L ATP10D_ENST00000504445.1_Silent_p.L91L NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 91 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CAAGAAATTTATTTGAACAAT 0.318000 9 21 0 0 0.006214 0 0 CYSLTR2 57105 broad.mit.edu 37 13 49281442 49281442 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:49281442G>A ENST00000282018.3 + 1 492 c.489G>A c.(487-489)tgG>tgA p.W163* NM_020377.2 NP_065110.1 Q9NS75 CLTR2_HUMAN cysteinyl leukotriene receptor 2 163 immune response integral to membrane|plasma membrane endometrium(2)|large_intestine(4)|lung(12)|skin(2) 20 all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787) GBM - Glioblastoma multiforme(99;1.19e-09) Nedocromil(DB00716) GGATCATATGGATCCTTATCA 0.498000 20 64 0 0 0.002299 0 0 MACC1 346389 broad.mit.edu 37 7 20199749 20199749 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:20199749C>T ENST00000400331.5 - 5 543 c.235G>A c.(235-237)Gat>Aat p.D79N MACC1_ENST00000589011.1_Missense_Mutation_p.D79N|MACC1_ENST00000332878.4_Missense_Mutation_p.D79N NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 79 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GTTATGTCATCCAAAAATGGG 0.358000 13 23 0 0 0.002450 0 0 ATP8A1 10396 broad.mit.edu 37 4 42577650 42577650 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:42577650C>T ENST00000381668.5 - 13 1426 c.1195G>A c.(1195-1197)Gaa>Aaa p.E399K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E399K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 399 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TGGCCAAGTTCCTCATTCAGA 0.358000 33 79 0 0 0.004289 0 0 XDH 7498 broad.mit.edu 37 2 31621561 31621561 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:31621561C>T ENST00000379416.3 - 5 359 c.311G>A c.(310-312)aGa>aAa p.R104K NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 104 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TTTGGCAATTCTCTCCTAAAA 0.557000 30 68 0 0 0.002445 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781298 128781298 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:128781298G>A ENST00000529694.1 + 2 506 c.130G>A c.(130-132)Gcc>Acc p.A44T KCNJ5_ENST00000338350.4_Missense_Mutation_p.A44T|KCNJ5_ENST00000533599.1_Missense_Mutation_p.A44T NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 44 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) GCGCCTGCTGGCCGAGGGCAA 0.597000 28 50 0 0 0.008361 0 0 ANO2 57101 broad.mit.edu 37 12 5915235 5915235 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:5915235C>T ENST00000546188.1 - 9 1035 c.964G>A c.(964-966)Gat>Aat p.D322N ANO2_ENST00000356134.5_Missense_Mutation_p.D322N|ANO2_ENST00000327087.8_Missense_Mutation_p.D321N Q9NQ90 ANO2_HUMAN anoctamin 2 326 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TCATTCATATCGTCCTCTGGA 0.478000 4 16 0 0 0.000602 0 0 NR2C2 7182 broad.mit.edu 37 3 15057668 15057668 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:15057668G>A ENST00000425241.1 + 4 645 c.283G>A c.(283-285)Gat>Aat p.D95N NR2C2_ENST00000323373.6_Missense_Mutation_p.D114N|NR2C2_ENST00000406272.2_Missense_Mutation_p.D95N|NR2C2_ENST00000393102.3_Missense_Mutation_p.D95N P49116 NR2C2_HUMAN nuclear receptor subfamily 2, group C, member 2 95 cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GATTGTCACGGATTCTGCCTC 0.532000 19 48 0 0 0.010504 0 0 ENPP1 5167 broad.mit.edu 37 6 132189168 132189168 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:132189168C>T ENST00000360971.2 + 12 1195 c.1175C>T c.(1174-1176)gCc>gTc p.A392V NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 392 Phosphodiesterase. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) GTCATCAAAGCCTTGCAGAGG 0.393000 22 60 0 0 0.005443 0 0 STXBP5L 9515 broad.mit.edu 37 3 121100148 121100148 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:121100148G>A ENST00000273666.6 + 23 2699 c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K STXBP5L_ENST00000497029.1_Missense_Mutation_p.E784K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E786K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E786K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E810K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 810 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AGAAAACCGAGAAAATTCCTA 0.294000 14 35 0 0 0.002450 0 0 ABCA12 26154 broad.mit.edu 37 2 215845258 215845258 + Silent SNP G G A rs138177557 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:215845258G>A ENST00000272895.7 - 31 4908 c.4689C>T c.(4687-4689)taC>taT p.Y1563Y ABCA12_ENST00000389661.4_Silent_p.Y1245Y NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1563 ABC transporter 1. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTCCTTGAGGTAAAATGGGG 0.493000 23 45 0 0 0.002299 0 0 MAGEA12 4111 broad.mit.edu 37 X 151899902 151899902 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:151899902G>A ENST00000393900.3 - 3 1252 c.899C>T c.(898-900)tCc>tTc p.S300F MAGEA12_ENST00000357916.4_Missense_Mutation_p.S300F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Missense_Mutation_p.S300F NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 300 MAGE. S -> P (in Ref. 1; AAA19023). breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGGTGGGTAGGAAATGTGAGG 0.567000 39 35 0 0 0.007835 0 0 OR6C75 390323 broad.mit.edu 37 12 55759618 55759618 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55759618C>T ENST00000343399.3 + 1 724 c.724C>T c.(724-726)Cat>Tat p.H242Y NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 TTGCTCCTCCCATATGATAGT 0.398000 16 29 0 0 0.003163 0 0 AGBL1 123624 broad.mit.edu 37 15 86697687 86697687 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:86697687G>A ENST00000441037.2 + 3 246 c.151G>A c.(151-153)Gaa>Aaa p.E51K AGBL1_ENST00000421325.2_Missense_Mutation_p.E51K NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 51 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GAAGGCCCTAGAATTGGAAGC 0.448000 4 14 0 0 0.009096 0 0 ACER1 125981 broad.mit.edu 37 19 6312490 6312490 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:6312490G>A ENST00000301452.4 - 2 191 c.114C>T c.(112-114)ttC>ttT p.F38F NM_133492.2 NP_597999.1 Q8TDN7 ACER1_HUMAN alkaline ceramidase 1 38 endoplasmic reticulum membrane|integral to membrane ceramidase activity NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1) 15 GCCCGAAGATGAAGAAGGGGA 0.557000 26 67 0 0 0.008361 0 0 NACA2 342538 broad.mit.edu 37 17 59668312 59668312 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:59668312C>T ENST00000521764.1 - 1 251 c.230G>A c.(229-231)cGg>cAg p.R77Q NM_199290.3 NP_954984.1 Q9H009 NACA2_HUMAN nascent polypeptide-associated complex alpha subunit 2 77 NAC-A/B. protein transport cytoplasm|nucleus large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 12 all_epithelial(1;3.12e-14) CATAGCCTTCCGTGCCCTCTT 0.463000 78 94 0 0 0.003610 0 0 ATP2B3 492 broad.mit.edu 37 X 152826321 152826321 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:152826321C>T ENST00000370186.1 + 17 3311 c.2985C>T c.(2983-2985)atC>atT p.I995I ATP2B3_ENST00000263519.4_Silent_p.I1009I|ATP2B3_ENST00000370181.2_Silent_p.I995I|ATP2B3_ENST00000393842.1_Silent_p.I995I|ATP2B3_ENST00000359149.3_Silent_p.I1009I|ATP2B3_ENST00000349466.2_Silent_p.I1009I Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1009 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGCACCATCGTTTTGGGCA 0.567000 15 10 0 0 0.002450 0 0 PRKACG 5568 broad.mit.edu 37 9 71628115 71628115 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:71628115G>A ENST00000377276.2 - 1 924 c.894C>T c.(892-894)ttC>ttT p.F298F NM_002732.3 NP_002723.2 P22612 KAPCG_HUMAN protein kinase, cAMP-dependent, catalytic, gamma 298 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport cytosol|nucleoplasm ATP binding|cAMP-dependent protein kinase activity p.F298L(1) central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 TGGTTGTGGCGAACCACTTGT 0.567000 30 68 0 0 0.003755 0 0 ASXL3 80816 broad.mit.edu 37 18 31323549 31323549 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:31323549C>T ENST00000269197.5 + 12 3737 c.3737C>T c.(3736-3738)tCg>tTg p.S1246L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1246 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 ACTGCTATATCGGGAGCAATT 0.368000 8 35 0 0 0.004482 0 0 SLC9A3 6550 broad.mit.edu 37 5 488572 488572 + Silent SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:488572C>A ENST00000264938.3 - 3 543 c.534G>T c.(532-534)ctG>ctT p.L178L SLC9A3_ENST00000514375.1_Silent_p.L178L NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 178 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GGAAGTCCAGCAGCCCAATCT 0.677000 3 5 0.00909568 0.00926853 0.009096 1 0 CRISP2 7180 broad.mit.edu 37 6 49668450 49668450 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:49668450C>T ENST00000339139.4 - 5 350 c.114G>A c.(112-114)agG>agA p.R38R NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 38 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTACAATCTCCCTTTGCACTT 0.363000 14 39 0 0 0.002450 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481080 140481080 + Missense_Mutation SNP C C T rs17844390 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140481080C>T ENST00000231130.2 + 1 847 c.847C>T c.(847-849)Cat>Tat p.H283Y AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 283 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCATTTTTTCATGCTTCTGA 0.358000 8 31 0 0 0.006214 0 0 RP11-478B9.1 0 broad.mit.edu 37 12 45457597 45457597 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:45457597C>T ENST00000548424.1 + 0 448 CCTGTAACATCGTCACTGGTT 0.498000 3 13 0 0 0.009096 0 0 SLC4A9 83697 broad.mit.edu 37 5 139740441 139740441 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:139740441G>A ENST00000230993.6 + 2 382 c.347G>A c.(346-348)tGg>tAg p.W116* SLC4A9_ENST00000507527.1_Nonsense_Mutation_p.W116*|SLC4A9_ENST00000506757.2_Nonsense_Mutation_p.W92*|SLC4A9_ENST00000506545.1_Nonsense_Mutation_p.W92*|SLC4A9_ENST00000432095.2_Nonsense_Mutation_p.W92* NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 116 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGGCCGGTGGAGTGCCCCC 0.622000 13 18 0 0 0.004007 0 0 APBA1 320 broad.mit.edu 37 9 72047517 72047517 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:72047517C>T ENST00000265381.4 - 12 2599 c.2377G>A c.(2377-2379)Gga>Aga p.G793R NM_001163.3 NP_001154.2 Q02410 APBA1_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 1 793 PDZ 2. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 ACGCTCTGTCCATTGATTTCA 0.592000 16 43 0 0 0.003163 0 0 DISP1 84976 broad.mit.edu 37 1 223177379 223177379 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:223177379C>T ENST00000284476.6 + 8 2804 c.2640C>T c.(2638-2640)ccC>ccT p.P880P NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 880 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) GGAGCTTCCCCTACAAGCAAG 0.502000 118 291 0 0 0.003610 0 0 SERPINA10 51156 broad.mit.edu 37 14 94754734 94754734 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94754734C>T ENST00000554723.1 - 3 1419 c.1001G>A c.(1000-1002)gGa>gAa p.G334E SERPINA10_ENST00000261994.4_Missense_Mutation_p.G294E|SERPINA10_ENST00000393096.1_Missense_Mutation_p.G294E|SERPINA10_ENST00000554173.1_Missense_Mutation_p.G294E Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 294 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) GGTGGCATTTCCTTGGTAGGG 0.502000 14 31 0 0 0.004007 0 0 TRBC2 28638 broad.mit.edu 37 7 142499643 142499643 + RNA SNP C C T rs1126990 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142499643C>T ENST00000466254.1 + 0 403 GGCTTCACCTCCGGTAAGTGA 0.507000 95 256 0 0 0.003610 0 0 GSTA1 2938 broad.mit.edu 37 6 52657738 52657738 + Missense_Mutation SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:52657738G>C ENST00000334575.5 - 6 617 c.462C>G c.(460-462)agC>agG p.S154R GSTA1_ENST00000493331.1_5'UTR NM_145740.3 NP_665683.1 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 154 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 12 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) TGTCAGCCCGGCTCAGCTTGT 0.517000 37 93 0 0 0.005524 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122172 12122172 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:12122172C>T ENST00000379388.2 + 4 2476 c.2144C>T c.(2143-2145)aCc>aTc p.T715I NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 715 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCTCTTGTCACCACGTCAACA 0.532000 5 38 0 0 0.001168 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203619 140203619 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140203619G>A ENST00000529859.1 + 1 2259 c.2259G>A c.(2257-2259)agG>agA p.R753R PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Silent_p.R753R|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.R753R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCAGAGGAGACAGAGGG 0.632000 18 35 0 0 0.004990 0 0 MMP13 4322 broad.mit.edu 37 11 102824925 102824925 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:102824925G>A ENST00000260302.3 - 4 625 c.597C>T c.(595-597)gcC>gcT p.A199A MMP13_ENST00000340273.4_Silent_p.A199A NM_002427.3 NP_002418.1 P45452 MMP13_HUMAN matrix metallopeptidase 13 (collagenase 3) 199 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1) 27 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) CATCAAAATGGGCATCTCCTC 0.423000 6 29 0 0 0.001984 0 0 FAM19A1 407738 broad.mit.edu 37 3 68587994 68587994 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:68587994G>A ENST00000478136.1 + 4 837 c.347G>A c.(346-348)tGg>tAg p.W116* FAM19A1_ENST00000496687.1_Nonsense_Mutation_p.W116* NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 116 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) AATTCTGGATGGATGTGCGCA 0.428000 9 28 0 0 0.004482 0 0 RANGAP1 5905 broad.mit.edu 37 22 41660766 41660766 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:41660766C>T ENST00000455915.2 - 4 1851 c.382G>A c.(382-384)Ggt>Agt p.G128S RANGAP1_ENST00000405486.1_Missense_Mutation_p.G128S|RANGAP1_ENST00000407260.4_Missense_Mutation_p.G118S|RANGAP1_ENST00000356244.3_Missense_Mutation_p.G128S P46060 RAGP1_HUMAN Ran GTPase activating protein 1 128 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTTGCACACCGTCGGGCCCG 0.602000 9 35 0 0 0.004482 0 0 APOBR 55911 broad.mit.edu 37 16 28509501 28509501 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:28509501C>T ENST00000564831.1 + 3 3088 c.3055C>T c.(3055-3057)Cgg>Tgg p.R1019W APOBR_ENST00000328423.5_Missense_Mutation_p.R1010W|APOBR_ENST00000431282.1_Missense_Mutation_p.R1010W NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 1010 cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 CTCTTTTCGTCGGACTCCGGC 0.682000 7 4 0 0 0.001984 0 0 PSG1 5669 broad.mit.edu 37 19 43372272 43372272 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:43372272G>A ENST00000244296.2 - 5 1361 c.1224C>T c.(1222-1224)tcC>tcT p.S408S PSG1_ENST00000436291.2_Silent_p.S408S|PSG1_ENST00000403380.3_Silent_p.S315S|PSG1_ENST00000312439.6_Silent_p.S408S|PSG1_ENST00000595356.1_Silent_p.S408S|PSG1_ENST00000595124.1_Silent_p.S315S NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) CGACTGTCATGGATTTGGAGC 0.458000 57 149 0 0 0.003610 0 0 NDST1 3340 broad.mit.edu 37 5 149901282 149901282 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:149901282G>A ENST00000261797.6 + 2 968 c.466G>A c.(466-468)Gac>Aac p.D156N NDST1_ENST00000523767.1_Missense_Mutation_p.D156N NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 156 Heparan sulfate N-deacetylase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGCTGCTGGACAAGTACTG 0.587000 39 98 0 0 0.002852 0 0 KHDC1 80759 broad.mit.edu 37 6 73951815 73951815 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:73951815A>G ENST00000423730.3 - 3 693 c.258T>C c.(256-258)tgT>tgC p.C86C KHDC1_ENST00000370384.3_Silent_p.C159C|KHDC1_ENST00000257765.5_Silent_p.C86C TCCCCACACAACAAAACATGT 0.522000 5 35 0 0 0.000602 0 0 DNM1P46 196968 broad.mit.edu 37 15 100332964 100332964 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:100332964G>A ENST00000341853.1 - 0 1227 NR_003260.1 GGGCAGGCAGGGGCAGGGGAG 0.617000 6 30 0 0 0.004482 0 0 OBSCN 84033 broad.mit.edu 37 1 228528804 228528804 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228528804C>T ENST00000570156.2 + 84 20651 c.20577C>T c.(20575-20577)ttC>ttT p.F6859F OBSCN_ENST00000366707.4_Silent_p.F3536F|OBSCN_ENST00000284548.11_Silent_p.F5902F|OBSCN_ENST00000422127.1_Silent_p.F5902F|OBSCN_ENST00000366709.4_Silent_p.F3021F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5902 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AGGGCCACTTCATCGTGTGGG 0.682000 6 14 0 0 0.003080 0 0 CASP10 843 broad.mit.edu 37 2 202073798 202073798 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:202073798C>T ENST00000286186.6 + 9 1363 c.928C>T c.(928-930)Ctg>Ttg p.L310L CASP10_ENST00000272879.5_Silent_p.L310L|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Silent_p.L243L|CASP10_ENST00000448480.1_Silent_p.L267L|CASP10_ENST00000346817.5_Silent_p.L267L NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 310 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 AACAGAGATCCTGAGTCATGT 0.378000 14 21 0 0 0.001855 0 0 HLA-F-AS1 285830 broad.mit.edu 37 6 29713458 29713458 + RNA SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:29713458T>C ENST00000458236.1 - 0 140 ACTGCACAGATCCATCCTGGG 0.552000 9 29 0 0 0.008291 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354227 45354227 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:45354227C>T ENST00000359271.2 + 2 802 c.552C>T c.(550-552)ttC>ttT p.F184F NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 184 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GCCTCCTCTTCCTCCCTGCTG 0.627000 15 40 0 0 0.002450 0 0 IGSF9B 22997 broad.mit.edu 37 11 133807341 133807341 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:133807341T>C ENST00000321016.8 - 5 839 c.609A>G c.(607-609)agA>agG p.R203R IGSF9B_ENST00000533871.2_Silent_p.R203R Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 203 Ig-like 2. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGTAGGCACCTCTGTCCTCCC 0.607000 6 19 0 0 0.001984 0 0 CDC45 8318 broad.mit.edu 37 22 19495387 19495387 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:19495387G>A ENST00000407835.1 + 13 1311 c.1055_splice c.e13+1 p.G352_splice CDC45_ENST00000404724.3_Splice_Site_p.G306_splice|CDC45_ENST00000263201.1_Splice_Site_p.G352_splice|CDC45_ENST00000437685.2_Splice_Site_p.G384_splice O75419 CDC45_HUMAN cell division cycle 45 352 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 AATAAATTTGGGTAAACACAC 0.388000 14 39 0 0 0.001855 0 0 OR13C4 138804 broad.mit.edu 37 9 107288635 107288635 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:107288635C>T ENST00000277216.3 - 1 855 c.856G>A c.(856-858)Gtt>Att p.V286I NM_001001919.1 NP_001001919.1 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, member 4 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(2)|lung(14)|skin(1) 18 GGGGTCACAACCCCATAAAAC 0.403000 14 34 0 0 0.001855 0 0 PCDHGA12 26025 broad.mit.edu 37 5 140810551 140810551 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140810551C>T ENST00000252085.3 + 1 367 c.225C>T c.(223-225)ttC>ttT p.F75F PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_003735.2|NM_032094.1 NP_003726.1|NP_115265.1 breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 58 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCAGCTTTTCGCCCTGAATC 0.632000 28 57 0 0 0.007291 0 0 MORC1 27136 broad.mit.edu 37 3 108780899 108780899 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:108780899G>A ENST00000232603.5 - 11 984 c.902C>T c.(901-903)tCc>tTc p.S301F MORC1_ENST00000483760.1_Missense_Mutation_p.S301F NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 301 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 TTTCAATATGGATTCAGCTGG 0.343000 17 30 0 0 0.004007 0 0 ABCC12 94160 broad.mit.edu 37 16 48175116 48175116 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:48175116C>T ENST00000311303.3 - 3 769 c.424G>A c.(424-426)Gtg>Atg p.V142M ABCC12_ENST00000416054.1_Splice_Site|ABCC12_ENST00000448542.1_Splice_Site NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 142 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) GCCGCACTCACCGGCCCTATG 0.547000 8 18 0 0 0.004482 0 0 LTN1 26046 broad.mit.edu 37 21 30304892 30304892 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:30304892G>A ENST00000361371.4 - 28 5120 c.4970C>T c.(4969-4971)cCa>cTa p.P1657L LTN1_ENST00000389194.2_Missense_Mutation_p.P1703L NM_015565.2 NP_056380.2 O94822 LTN1_HUMAN listerin E3 ubiquitin protein ligase 1 1657 ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2) 60 TGAACCCAGTGGATAATTTGA 0.418000 40 73 0 0 0.005524 0 0 SMTN 6525 broad.mit.edu 37 22 31489862 31489862 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:31489862C>T ENST00000404574.1 + 1 519 c.429_splice c.e1+1 p.L143_splice SMTN_ENST00000333137.7_Intron|SMTN_ENST00000347557.2_Intron|SMTN_ENST00000358743.1_Intron P53814 SMTN_HUMAN smoothelin 544 muscle organ development|smooth muscle contraction actin cytoskeleton|cytoplasm actin binding|structural constituent of muscle breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3) 25 GCACTAGTCTCGTAAGTGCTT 0.612000 3 7 0 0 0.009096 0 0 OR10H1 26539 broad.mit.edu 37 19 15917966 15917966 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:15917966C>T ENST00000334920.2 - 1 970 c.882G>A c.(880-882)agG>agA p.R294R NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 GCTCCTTGTTCCTGAGGCTGA 0.478000 6 25 0 0 0.001168 0 0 GPR139 124274 broad.mit.edu 37 16 20043675 20043675 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20043675G>A ENST00000570682.1 - 2 744 c.444C>T c.(442-444)gtC>gtT p.V148V NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 148 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CACTTACAATGACTTTCCGGG 0.512000 31 74 0 0 0.002096 0 0 TBC1D29 26083 broad.mit.edu 37 17 28890221 28890221 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:28890221C>T ENST00000584297.1 + 4 331 c.182C>T c.(181-183)cCc>cTc p.P61L TBC1D29_ENST00000580161.1_Silent_p.A77A|TBC1D29_ENST00000579181.1_Silent_p.A77A Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 0 intracellular Rab GTPase activator activity breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Myeloproliferative disorder(56;0.0255) CTCACAGGGCCCTCAAGGGCA 0.632000 3 7 0 0 0.004672 0 0 NWD1 284434 broad.mit.edu 37 19 16902315 16902315 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16902315G>A ENST00000524140.2 + 14 3513 c.3095G>A c.(3094-3096)gGa>gAa p.G1032E NWD1_ENST00000552788.1_Missense_Mutation_p.G1032E|NWD1_ENST00000523826.1_Missense_Mutation_p.G826E|NWD1_ENST00000549814.1_Missense_Mutation_p.G1032E|NWD1_ENST00000379808.3_Missense_Mutation_p.G1032E|NWD1_ENST00000339803.6_Missense_Mutation_p.G897E NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1032 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCAGCTACGGGAAAACTTCAG 0.547000 12 25 0 0 0.000978 0 0 FREM1 158326 broad.mit.edu 37 9 14859353 14859353 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:14859353C>T ENST00000380881.4 - 5 1274 c.459G>A c.(457-459)gcG>gcA p.A153A FREM1_ENST00000380880.3_Silent_p.A153A|FREM1_ENST00000422223.2_Silent_p.A153A Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 153 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TTTTATCAATCGCTTGGGACA 0.488000 37 34 0 0 0.006999 0 0 C8B 732 broad.mit.edu 37 1 57399040 57399040 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:57399040G>A ENST00000543257.1 - 11 1930 c.1364C>T c.(1363-1365)cCc>cTc p.P455L C8B_ENST00000371237.4_Missense_Mutation_p.P507L|C8B_ENST00000535057.1_Missense_Mutation_p.P445L NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 507 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TCCTTGGCAGGGAGCACAGTG 0.552000 17 44 0 0 0.006122 0 0 COL20A1 57642 broad.mit.edu 37 20 61939340 61939340 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:61939340G>A ENST00000422202.1 + 6 762 c.694G>A c.(694-696)Ggg>Agg p.G232R COL20A1_ENST00000358894.6_Missense_Mutation_p.G225R|COL20A1_ENST00000326996.6_Missense_Mutation_p.G225R|COL20A1_ENST00000435874.1_Missense_Mutation_p.G232R Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 225 VWFA. cell adhesion collagen|extracellular space structural molecule activity NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2) 36 all_cancers(38;1.39e-10) TCAGTACAGCGGGGATGCTCA 0.632000 7 26 0 0 0.001984 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070139 141070139 + RNA SNP C C T rs143443709 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:141070139C>T ENST00000503395.1 + 0 1219 p.L85F(2) CGGGCAGGTCCTCAGGCCAGA 0.667000 4 66 0 0 0.001984 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140870544 140870544 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140870544C>T ENST00000252087.1 + 1 1737 c.1737C>T c.(1735-1737)ctC>ctT p.L579L PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 579 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCAGCGTCTCCCTCGCTCTG 0.587000 7 28 0 0 0.004482 0 0 GABRE 2564 broad.mit.edu 37 X 151138709 151138709 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:151138709G>A ENST00000370325.1 - 2 275 c.222C>T c.(220-222)atC>atT p.I74I GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Silent_p.I74I P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, epsilon 74 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TAGTGTTCAGGATGCGAGAGG 0.537000 33 22 0 0 0.003755 0 0 NLRP8 126205 broad.mit.edu 37 19 56466362 56466362 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56466362C>T ENST00000291971.3 + 3 1009 c.938C>T c.(937-939)tCt>tTt p.S313F NLRP8_ENST00000590542.1_Missense_Mutation_p.S313F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 313 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGCCTGGGTCTGTCCTACTG 0.507000 13 59 0 0 0.001855 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20490586 20490586 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:20490586C>T ENST00000555186.1 + 0 566 NR_038836.1 ACTGTGGCTTCAGGTGGGTGT 0.468000 20 272 0 0 0.002299 0 0 CD163L1 283316 broad.mit.edu 37 12 7559373 7559373 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:7559373C>T ENST00000313599.3 - 5 899 c.842G>A c.(841-843)gGa>gAa p.G281E CD163L1_ENST00000416109.2_Missense_Mutation_p.G291E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G281E Q9NR16 C163B_HUMAN CD163 molecule-like 1 281 SRCR 3. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 CCCCCACCTTCCTTGGATTTT 0.478000 19 56 0 0 0.008871 0 0 COBLL1 22837 broad.mit.edu 37 2 165551054 165551054 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:165551054G>A ENST00000375458.2 - 11 3069 c.2848C>T c.(2848-2850)Ccc>Tcc p.P950S COBLL1_ENST00000194871.6_Missense_Mutation_p.P1055S|COBLL1_ENST00000342193.4_Missense_Mutation_p.P988S|COBLL1_ENST00000392717.2_Missense_Mutation_p.P1026S|COBLL1_ENST00000409184.3_Missense_Mutation_p.P988S NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 1026 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GGAGCTATGGGAGGAGGGGAG 0.463000 13 32 0 0 0.002450 0 0 MAPK4 5596 broad.mit.edu 37 18 48190536 48190536 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:48190536C>T ENST00000400384.2 + 2 1244 c.208C>T c.(208-210)Cgg>Tgg p.R70W MAPK4_ENST00000588540.1_Missense_Mutation_p.R70W|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000592595.1_Missense_Mutation_p.R70W NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 70 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) CAAGATCATTCGGCGCCTGGA 0.607000 21 32 0 0 0.002780 0 0 HIST1H1T 3010 broad.mit.edu 37 6 26107822 26107822 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:26107822C>T ENST00000338379.4 - 1 542 c.500G>A c.(499-501)gGg>gAg p.G167E NM_005323.3 NP_005314.2 P22492 H1T_HUMAN histone cluster 1, H1t 167 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1) 9 AGCCTTTCTCCCGCTCCTAAC 0.468000 21 91 0 0 0.001882 0 0 OR13C5 138799 broad.mit.edu 37 9 107361157 107361157 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:107361157C>T ENST00000374779.2 - 1 631 c.538G>A c.(538-540)Gaa>Aaa p.E180K NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GCTAGAATTTCACAGGTGAAA 0.423000 28 68 0 0 0.005443 0 0 CACNB4 785 broad.mit.edu 37 2 152727112 152727112 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:152727112G>A ENST00000360283.6 - 7 790 c.533C>T c.(532-534)cCt>cTt p.P178L CACNB4_ENST00000539935.1_Missense_Mutation_p.P211L|CACNB4_ENST00000201943.5_Missense_Mutation_p.P211L|CACNB4_ENST00000397327.2_Missense_Mutation_p.P164L|CACNB4_ENST00000534999.1_Missense_Mutation_p.P177L|CACNB4_ENST00000427385.1_Missense_Mutation_p.P193L O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 211 axon guidance|membrane depolarization|synaptic transmission cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(221;0.156) Verapamil(DB00661) ATCGTAAGGAGGAATGTGCTC 0.463000 7 7 0 0 0.001984 0 0 DNAH7 56171 broad.mit.edu 37 2 196749415 196749415 + Missense_Mutation SNP C C T rs13034775 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:196749415C>T ENST00000312428.6 - 35 5757 c.5657G>A c.(5656-5658)cGa>cAa p.R1886Q NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1886 R -> Q (in dbSNP:rs13034775). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 AAACGTATTTCGAGTTCGATC 0.358000 10 28 0 0 0.008291 0 0 ZIM3 114026 broad.mit.edu 37 19 57646543 57646543 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:57646543C>T ENST00000269834.1 - 5 1547 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TAGGGCTTTTCCCCAGTATGG 0.388000 17 67 0 0 0.004007 0 0 DCDC2 51473 broad.mit.edu 37 6 24301956 24301956 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:24301956C>T ENST00000378454.3 - 4 845 c.544G>A c.(544-546)Ggg>Agg p.G182R NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 182 Doublecortin 2. cellular defense response|intracellular signal transduction|neuron migration p.G182W(1) breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TGAACAGCCCCGCTCCTCAGA 0.448000 31 103 0 0 0.002836 0 0 TTLL7 79739 broad.mit.edu 37 1 84385483 84385483 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:84385483C>T ENST00000260505.8 - 13 1776 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K TTLL7_ENST00000477524.1_5'UTR NM_024686.4 NP_078962.4 Q6ZT98 TTLL7_HUMAN tubulin tyrosine ligase-like family, member 7 467 cell differentiation|nervous system development|protein modification process cilium|dendrite|microtubule basal body|perikaryon tubulin-tyrosine ligase activity kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16) TCATACTTTTCAAGTAATGCT 0.343000 13 47 0 0 0.004007 0 0 C12orf50 160419 broad.mit.edu 37 12 88376914 88376914 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:88376914T>C ENST00000298699.2 - 12 1365 c.1185A>G c.(1183-1185)tcA>tcG p.S395S C12orf50_ENST00000550553.1_Silent_p.S356S NM_152589.1 NP_689802.1 Q8NA57 CL050_HUMAN chromosome 12 open reading frame 50 395 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 AATATGTTTTTGAAAAAGGAA 0.269000 15 50 0 0 0.006122 0 0 EGFR 1956 broad.mit.edu 37 7 55233114 55233114 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:55233114C>T ENST00000275493.2 + 15 2041 c.1864C>T c.(1864-1866)Cca>Tca p.P622S EGFR_ENST00000344576.2_Missense_Mutation_p.P622S|EGFR_ENST00000455089.1_Missense_Mutation_p.P577S|EGFR_ENST00000342916.3_Missense_Mutation_p.P622S|EGFR_ENST00000442591.1_Missense_Mutation_p.P622S|EGFR_ENST00000454757.2_Missense_Mutation_p.P569S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 622 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 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) CCTGTGCCATCCAAACTGCAC 0.532000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 37 0 0 0.001855 0 0 FRAS1 80144 broad.mit.edu 37 4 79373339 79373339 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:79373339C>T ENST00000264895.6 + 47 7034 c.6594C>T c.(6592-6594)tcC>tcT p.S2198S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2197 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAGACAAATCCCCACCAGTCA 0.458000 9 36 0 0 0.006214 0 0 PRDM1 639 broad.mit.edu 37 6 106555155 106555155 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:106555155G>A ENST00000369096.4 + 7 2506 c.2272G>A c.(2272-2274)Gaa>Aaa p.E758K PRDM1_ENST00000369091.2_Missense_Mutation_p.E722K|PRDM1_ENST00000369089.3_Missense_Mutation_p.E624K NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 758 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) AGTGGAGAAGGAAATTCTGGC 0.483000 """D, N, Mis, F, S""" DLBCL 25 95 0 0 0.003330 0 0 MARVELD2 153562 broad.mit.edu 37 5 68715802 68715802 + Missense_Mutation SNP G G T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:68715802G>T ENST00000325631.5 + 2 664 c.590G>T c.(589-591)gGt>gTt p.G197V MARVELD2_ENST00000413223.2_Missense_Mutation_p.G197V NM_001038603.2|NM_001244734.1 NP_001033692.2|NP_001231663.1 Q8N4S9 MALD2_HUMAN MARVEL domain containing 2 197 MARVEL. sensory perception of sound integral to membrane|tight junction NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1) 15 Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183) AGAATACTGGGTGTGGTGGAG 0.493000 28 75 4.22769e-11 4.34793e-11 0.006320 1 0 ZNF667 63934 broad.mit.edu 37 19 56953217 56953217 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56953217C>T ENST00000504904.3 - 7 1866 c.1147G>A c.(1147-1149)Gaa>Aaa p.E383K ZNF667_ENST00000292069.6_Missense_Mutation_p.E383K|ZNF667_ENST00000342634.3_Missense_Mutation_p.E511K|ZNF667_ENST00000591790.1_3'UTR Q5HYK9 ZN667_HUMAN zinc finger protein 667 383 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TATAGTTTTTCTCCATTATGA 0.353000 15 29 0 0 0.002450 0 0 HBS1L 10767 broad.mit.edu 37 6 135290425 135290425 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:135290425T>A ENST00000367837.5 - 16 2055 c.1849A>T c.(1849-1851)Att>Ttt p.I617F HBS1L_ENST00000367826.2_Missense_Mutation_p.I575F|HBS1L_ENST00000527578.1_Missense_Mutation_p.I453F|HBS1L_ENST00000415177.2_Missense_Mutation_p.I552F|HBS1L_ENST00000445176.2_Missense_Mutation_p.I341F|HBS1L_ENST00000367824.4_Missense_Mutation_p.I453F NM_001145158.1|NM_006620.3 NP_001138630.1|NP_006611.1 Q9Y450 HBS1L_HUMAN HBS1-like (S. cerevisiae) 617 signal transduction GTP binding|GTPase activity|translation elongation factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 20 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) AAGACACTAATCAATCGTTTA 0.338000 7 30 0 0 0.008291 0 0 THSD7B 80731 broad.mit.edu 37 2 138414698 138414698 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:138414698G>A ENST00000409968.1 + 24 4521 c.4343G>A c.(4342-4344)tGg>tAg p.W1448* THSD7B_ENST00000543459.1_Missense_Mutation_p.G283S|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W1420*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W1451* thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) CGAACTGTATGGTGCCAGCGT 0.413000 14 41 0 0 0.004007 0 0 DPYD 1806 broad.mit.edu 37 1 97547948 97547948 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:97547948C>T ENST00000370192.3 - 22 2945 c.2845G>A c.(2845-2847)Gat>Aat p.D949N NM_000110.3 NP_000101.2 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 949 4Fe-4S ferredoxin-type 2. 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTTCTTCATCAATCATAGCC 0.393000 26 47 0 0 0.005443 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603627 28603627 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:28603627G>A ENST00000533150.1 - 3 1749 c.633C>T c.(631-633)cgC>cgT p.R211R SULT1A2_ENST00000395630.1_Silent_p.R244R|SULT1A2_ENST00000335715.4_Silent_p.R244R P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 244 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 TGAACTCCCGGCGGACGGTGG 0.607000 32 92 0 0 0.004878 0 0 LCE1A 353131 broad.mit.edu 37 1 152800122 152800122 + Silent SNP C C T rs148143373 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152800122C>T ENST00000335123.2 + 1 174 c.174C>T c.(172-174)ggC>ggT p.G58G NM_178348.2 NP_848125.1 Q5T7P2 LCE1A_HUMAN late cornified envelope 1A 58 Cys-rich. keratinization endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1) 8 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCTCTGGGGGCGGCTGCAGCT 0.667000 6 51 0 0 0.003080 0 0 SSH2 85464 broad.mit.edu 37 17 27998981 27998981 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:27998981G>A ENST00000269033.3 - 8 851 c.700C>T c.(700-702)Ccc>Tcc p.P234S RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.P261S NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 234 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGAGAGTCGGGCCGGTGGGAC 0.443000 33 85 0 0 0.003755 0 0 XIST 7503 broad.mit.edu 37 X 73053208 73053208 + RNA SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:73053208T>A ENST00000429829.1 - 0 11437 NR_001564.2 GCTCAGAATGTCCTTAAGAAG 0.418000 16 12 0 0 0.002299 0 0 C3P1 388503 broad.mit.edu 37 19 10158089 10158089 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:10158089C>T ENST00000495140.1 + 0 1297 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 ATGAGCAGGTCCAGATCCAAG 0.502000 27 48 0 0 0.006320 0 0 TMX1 81542 broad.mit.edu 37 14 51713810 51713810 + Splice_Site SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:51713810T>C ENST00000457354.2 + 4 440 c.314_splice c.e4-1 p.H105_splice NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 105 Thioredoxin. anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 TTCTCTTTAGTTGTAAAGATG 0.313000 14 20 0 0 0.004990 0 0 MATK 4145 broad.mit.edu 37 19 3778521 3778521 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:3778521G>A ENST00000310132.6 - 13 1668 c.1270C>T c.(1270-1272)Ccg>Tcg p.P424S MATK_ENST00000395040.2_Missense_Mutation_p.P383S|MATK_ENST00000395045.2_Missense_Mutation_p.P425S|MATK_ENST00000585778.1_Missense_Mutation_p.P423S NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 424 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TTAGGGTACGGAGCCCGTCCA 0.647000 7 9 0 0 0.001984 0 0 MSI2 124540 broad.mit.edu 37 17 55478817 55478817 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:55478817C>T ENST00000284073.2 + 6 599 c.390C>T c.(388-390)ttC>ttT p.F130F MSI2_ENST00000322684.3_Silent_p.F126F|MSI2_ENST00000442934.2_Silent_p.F69F|MSI2_ENST00000416426.2_Silent_p.F108F|MSI2_ENST00000579180.1_Silent_p.F26F NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 130 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AGCAATATTTCGAGCAGTTTG 0.488000 T HOXA9 CML 30 45 0 0 0.002836 0 0 NOX3 50508 broad.mit.edu 37 6 155732367 155732367 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:155732367G>A ENST00000159060.2 - 11 1538 c.1436C>T c.(1435-1437)aCc>aTc p.T479I NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 479 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) ATCCCAGCCGGTAAGAAATAT 0.398000 8 25 0 0 0.003080 0 0 SPTA1 6708 broad.mit.edu 37 1 158624513 158624513 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:158624513C>T ENST00000368148.3 - 21 3104 c.2924G>A c.(2923-2925)gGa>gAa p.G975E SPTA1_ENST00000368147.3_Missense_Mutation_p.G975E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 975 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) TCCAGCAACTCCCTCCACTGG 0.512000 13 33 0 0 0.002450 0 0 SPPL2C 162540 broad.mit.edu 37 17 43922422 43922422 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:43922422C>T ENST00000329196.5 + 1 167 c.150C>T c.(148-150)ccC>ccT p.P50P MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 50 integral to membrane aspartic-type endopeptidase activity TCACCCTCCCCCGGGACCTGC 0.662000 27 36 0 0 0.006320 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318466 30318466 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:30318466C>T ENST00000375377.1 - 3 712 c.611G>A c.(610-612)gGg>gAg p.G204E NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 204 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CAGTCTCTCCCCATCTCCATC 0.483000 45 102 0 0 0.009718 0 0 GRASP 160622 broad.mit.edu 37 12 52408956 52408956 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52408956C>T ENST00000293662.4 + 8 1241 c.1161C>T c.(1159-1161)tcC>tcT p.S387S GRASP_ENST00000552049.1_Silent_p.S244S|GRASP_ENST00000380039.2_Silent_p.S244S|GRASP_ENST00000552963.1_3'UTR NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 387 cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) TCAACCGCTCCCTGGAGGAGG 0.642000 4 27 0 0 0.001168 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115534 15115534 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:15115534G>A ENST00000253699.3 - 14 2723 c.2110C>T c.(2110-2112)Cct>Tct p.P704S ZFYVE20_ENST00000476527.2_Missense_Mutation_p.P704S NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 704 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GGAACCAGAGGGCTTGAGAGC 0.562000 34 65 0 0 0.003755 0 0 ADI1 55256 broad.mit.edu 37 2 3504598 3504598 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:3504598G>A ENST00000382093.5 - 3 3226 c.389C>T c.(388-390)aCg>aTg p.T130M ADI1_ENST00000327435.6_Missense_Mutation_p.T136M Q9BV57 MTND_HUMAN acireductone dioxygenase 1 136 L-methionine salvage from methylthioadenosine cytoplasm|nucleus|plasma membrane acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1) 10 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228) CTCGTCCACCGTGAAGCGGTG 0.637000 9 21 0 0 0.004482 0 0 ATR 545 broad.mit.edu 37 3 142188402 142188402 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:142188402G>A ENST00000350721.4 - 38 6450 c.6329C>T c.(6328-6330)tCc>tTc p.S2110F ATR_ENST00000383101.3_Missense_Mutation_p.S2046F|RP11-383G6.3_ENST00000460977.1_RNA NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2110 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TACACGATCGGAGCGGCCAGC 0.323000 Other conserved DNA damage response genes 8 27 0 0 0.003080 0 0 PBRM1 55193 broad.mit.edu 37 3 52649472 52649472 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:52649472C>T ENST00000356770.4 - 14 1725 c.1722_splice c.e14-1 p.V575_splice PBRM1_ENST00000409114.3_Splice_Site_p.V622_splice|PBRM1_ENST00000296302.7_Splice_Site_p.V607_splice|PBRM1_ENST00000409057.1_Splice_Site_p.V607_splice|PBRM1_ENST00000410007.1_Splice_Site_p.V607_splice|PBRM1_ENST00000409767.1_Splice_Site_p.V622_splice|PBRM1_ENST00000394830.3_Splice_Site_p.V607_splice|PBRM1_ENST00000337303.4_Splice_Site_p.V607_splice Q86U86 PB1_HUMAN polybromo 1 607 Bromo 4. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) TCATTATAAACCTACATTCCA 0.333000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 7 27 0 0 0.001984 0 0 TP63 8626 broad.mit.edu 37 3 189526315 189526315 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:189526315G>A ENST00000264731.3 + 4 668 c.579_splice c.e4+1 p.T193_splice TP63_ENST00000382063.4_Intron|TP63_ENST00000418709.2_Splice_Site_p.T193_splice|TP63_ENST00000392463.2_Splice_Site_p.T99_splice|TP63_ENST00000320472.5_Splice_Site_p.T193_splice|TP63_ENST00000449992.1_Intron|TP63_ENST00000392460.3_Splice_Site_p.T193_splice|TP63_ENST00000456148.1_Splice_Site_p.T99_splice|TP63_ENST00000437221.1_Splice_Site_p.T99_splice|TP63_ENST00000440651.2_Splice_Site_p.T193_splice|TP63_ENST00000392461.3_Splice_Site_p.T99_splice|TP63_ENST00000354600.5_Splice_Site_p.T99_splice NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 193 T -> TP (in SHFM4). anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CCACCTGGACGGTAAGAGCAG 0.617000 HNSCC(45;0.13) 12 23 0 0 0.003163 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51770669 51770669 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51770669G>A ENST00000316401.7 + 5 834 c.453G>A c.(451-453)gcG>gcA p.A151A CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Silent_p.A57A NM_173635.1 NP_775906.1 SIGLEC family like 1 AAGCTGCAGCGATCAGAGCAA 0.468000 29 52 0 0 0.006320 0 0 IGHG1 3500 broad.mit.edu 37 14 106208017 106208017 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106208017C>T ENST00000390548.2 - 0 785 TCTCCCACTCCACGGCGATGT 0.612000 49 121 0 0 0.003610 0 0 SYNE1 23345 broad.mit.edu 37 6 152861132 152861132 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:152861132C>T ENST00000367255.5 - 4 693 c.92G>A c.(91-93)cGa>cAa p.R31Q SYNE1_ENST00000367253.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000413186.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R31Q|SYNE1_ENST00000466159.2_Missense_Mutation_p.R31Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.R31Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R31Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R31Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R31Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 31 Actin-binding.|CH 1. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGTGAAAGTTCGTTTTTGTAC 0.338000 HNSCC(10;0.0054) 28 74 0 0 0.008361 0 0 SAMD9 54809 broad.mit.edu 37 7 92730772 92730772 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:92730772C>T ENST00000379958.2 - 3 4908 c.4639G>A c.(4639-4641)Gaa>Aaa p.E1547K NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1547 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTGATTTTTTCATTGATTCCA 0.388000 15 27 0 0 0.002450 0 0 LONRF3 79836 broad.mit.edu 37 X 118140157 118140157 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:118140157C>T ENST00000365713.2 + 5 1529 c.1366C>T c.(1366-1368)Cac>Tac p.H456Y LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.H456Y|LONRF3_ENST00000371628.3_Missense_Mutation_p.H497Y|LONRF3_ENST00000422289.2_Missense_Mutation_p.H241Y Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 497 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 ATGCCTAGATCACAACGCAAA 0.348000 45 27 0 0 0.003610 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951845 119951845 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:119951845C>T ENST00000307142.4 + 4 2111 c.1915C>T c.(1915-1917)Ccg>Tcg p.P639S SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P639S|SYNPO2_ENST00000434046.2_Missense_Mutation_p.P639S NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 639 Pro-rich. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGTTTCAAGTCCGATTGCTGG 0.592000 15 38 0 0 0.003163 0 0 NUP214 8021 broad.mit.edu 37 9 134011373 134011373 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:134011373C>T ENST00000359428.5 + 9 1129 c.985C>T c.(985-987)Ctt>Ttt p.L329F RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.L329F|RP11-544A12.4_ENST00000586290.1_RNA|NUP214_ENST00000411637.2_Missense_Mutation_p.L329F P35658 NU214_HUMAN nucleoporin 214kDa 329 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) AGTTAGTATCCTTGCTCGACA 0.388000 T """DEK, SET, ABL1""" """AML, T-ALL""" 17 27 0 0 0.008871 0 0 SLC22A16 85413 broad.mit.edu 37 6 110763835 110763835 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:110763835C>T ENST00000368919.3 - 4 861 c.795G>A c.(793-795)agG>agA p.R265R SLC22A16_ENST00000439654.1_Silent_p.R265R|SLC22A16_ENST00000456137.2_3'UTR|SLC22A16_ENST00000330550.4_Silent_p.R231R NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 265 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GCCACCAGGTCCTGACCAAGT 0.507000 20 57 0 0 0.002299 0 0 COL4A5 1287 broad.mit.edu 37 X 107814658 107814658 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:107814658C>T ENST00000328300.6 + 7 644 c.400C>T c.(400-402)Cca>Tca p.P134S COL4A5_ENST00000361603.2_Missense_Mutation_p.P134S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 134 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 ACGTGGATTTCCAGGCAGTCC 0.368000 Alport syndrome with Diffuse Leiomyomatosis 44 45 0 0 0.003610 0 0 PNN 5411 broad.mit.edu 37 14 39644500 39644500 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:39644500G>A ENST00000216832.4 + 1 84 c.17G>A c.(16-18)aGa>aAa p.R6K PNN_ENST00000556530.1_Missense_Mutation_p.R6K|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Missense_Mutation_p.R6K NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 6 Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) GTCGCCGTGAGAACTTTGCAG 0.592000 4 9 0 0 0.000602 0 0 HLA-G 3135 broad.mit.edu 37 6 29796437 29796437 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:29796437T>C ENST00000428701.1 + 4 639 c.461T>C c.(460-462)cTg>cCg p.L154P HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.L154P|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Missense_Mutation_p.L159P NM_002127.5 NP_002118.1 P17693 HLAG_HUMAN major histocompatibility complex, class I, G 154 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1) 21 AACGAGGACCTGCGCTCCTGG 0.622000 19 78 0 0 0.007413 0 0 DSC2 1824 broad.mit.edu 37 18 28659870 28659870 + Nonsense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:28659870C>A ENST00000280904.6 - 11 2049 c.1606G>T c.(1606-1608)Gag>Tag p.E536* DSC2_ENST00000251081.6_Nonsense_Mutation_p.E536* NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 536 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GTCTCTGCCTCTCTATCCAGG 0.388000 24 45 2.89027e-11 2.97443e-11 0.002299 1 0 DNMT3B 1789 broad.mit.edu 37 20 31374317 31374317 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:31374317C>T ENST00000328111.2 + 5 637 c.316C>T c.(316-318)Cga>Tga p.R106* DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R106*|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000344505.4_Nonsense_Mutation_p.R106*|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R118*|DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R106*|DNMT3B_ENST00000456297.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 106 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GGTCCGAACTCGAAATAACAA 0.627000 11 46 0 0 0.000978 0 0 ITGB8 3696 broad.mit.edu 37 7 20431099 20431099 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:20431099G>A ENST00000222573.3 + 7 1718 c.1034G>A c.(1033-1035)gGa>gAa p.G345E ITGB8_ENST00000537992.1_Missense_Mutation_p.G210E NM_002214.2 NP_002205.1 P26012 ITB8_HUMAN integrin, beta 8 345 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 GCAGTTCAAGGAAAACAATTT 0.284000 8 20 0 0 0.004482 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361348 70361348 + Missense_Mutation SNP G G A rs41299976 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:70361348G>A ENST00000305107.6 - 1 278 c.232C>T c.(232-234)Cct>Tct p.P78S UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Missense_Mutation_p.P78S NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 78 P -> T. estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AAAGATACAGGATAAACTTCA 0.383000 15 30 0 0 0.002450 0 0 BZW1 9689 broad.mit.edu 37 2 201681923 201681923 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:201681923C>T ENST00000409600.1 + 6 952 c.497C>T c.(496-498)tCc>tTc p.S166F BZW1_ENST00000452790.2_Missense_Mutation_p.S198F|BZW1_ENST00000409226.1_Missense_Mutation_p.S170F NM_001207067.1|NM_014670.3 NP_001193996.1|NP_055485.2 Q7L1Q6 BZW1_HUMAN basic leucine zipper and W2 domains 1 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm protein binding breast(1)|kidney(2)|large_intestine(1)|lung(2) 6 CTTAATGCATCCATTCTTAAT 0.413000 14 43 0 0 0.002450 0 0 NBPF20 100288142 broad.mit.edu 37 1 148252068 148252068 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:148252068G>A ENST00000369202.1 - 111 13870 c.13673C>T c.(13672-13674)tCa>tTa p.S4558L neuroblastoma breakpoint family, member 20 breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1) 27 TCCATCCAGTGAGTCCTGTAA 0.448000 48 151 0 0 0.003610 0 0 FDXR 2232 broad.mit.edu 37 17 72860067 72860067 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72860067G>A ENST00000455107.2 - 10 1489 c.1073C>T c.(1072-1074)cCa>cTa p.P358L FDXR_ENST00000582944.1_Silent_p.S367S|FDXR_ENST00000442102.2_Silent_p.S418S|FDXR_ENST00000420580.2_Silent_p.S335S|FDXR_ENST00000581530.1_Silent_p.S381S|FDXR_ENST00000583917.1_Silent_p.S347S|FDXR_ENST00000413947.2_Silent_p.S406S|FDXR_ENST00000293195.5_Silent_p.S375S|FDXR_ENST00000544854.1_Silent_p.S323S P22570 ADRO_HUMAN ferredoxin reductase 0 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) CCCCAAGCTTGGAGTCAAAGG 0.597000 25 93 0 0 0.004656 0 0 ADAMTSL3 57188 broad.mit.edu 37 15 84651847 84651847 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:84651847G>A ENST00000286744.5 + 21 3691 c.3467G>A c.(3466-3468)gGg>gAg p.G1156E ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G1156E NM_207517.2 NP_997400.2 P82987 ATL3_HUMAN ADAMTS-like 3 1156 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 130 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGGAAACAGGGAGTGTGTCC 0.547000 13 14 0 0 0.001368 0 0 KCNK10 54207 broad.mit.edu 37 14 88693840 88693840 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:88693840A>G ENST00000340700.5 - 4 996 c.545T>C c.(544-546)aTc>aCc p.I182T KCNK10_ENST00000319231.5_Missense_Mutation_p.I187T|KCNK10_ENST00000312350.5_Missense_Mutation_p.I187T NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 182 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AATACAAAAGATTTTGCCTCC 0.408000 21 48 0 0 0.002780 0 0 PRKDC 5591 broad.mit.edu 37 8 48749810 48749810 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:48749810G>A ENST00000314191.2 - 58 7777 c.7721C>T c.(7720-7722)cCc>cTc p.P2574L PRKDC_ENST00000338368.3_Missense_Mutation_p.P2574L|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2575 KIP-binding. cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTCGAACATGGGGTTTGGATA 0.373000 Non-homologous end-joining 9 11 0 0 0.004482 0 0 DNAJC28 54943 broad.mit.edu 37 21 34860722 34860722 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:34860722G>A ENST00000314399.3 - 2 1417 c.979C>T c.(979-981)Cat>Tat p.H327Y DNAJC28_ENST00000381947.3_Missense_Mutation_p.H327Y|DNAJC28_ENST00000402202.1_Missense_Mutation_p.H327Y NM_017833.3 NP_060303.2 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 327 LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 GCATCAAAATGGACTTTTTGC 0.338000 11 39 0 0 0.000978 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665287 6665287 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:6665287C>T ENST00000326176.9 - 5 646 c.265G>A c.(265-267)Ggc>Agc p.G89S TNFSF14_ENST00000245912.3_Missense_Mutation_p.G89S|TNFSF14_ENST00000599359.1_Missense_Mutation_p.G125S NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 125 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 TAGCTGAGGCCCCTCAGGAAG 0.642000 8 18 0 0 0.003080 0 0 FSCN3 29999 broad.mit.edu 37 7 127235401 127235401 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:127235401C>T ENST00000265825.5 + 2 404 c.185C>T c.(184-186)gCc>gTc p.A62V FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 62 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 GAGACACAGGCCGTGGTGCGA 0.562000 10 33 0 0 0.008291 0 0 GRHL2 79977 broad.mit.edu 37 8 102678844 102678844 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:102678844C>T ENST00000251808.3 + 16 2129 c.1791C>T c.(1789-1791)atC>atT p.I597I GRHL2_ENST00000395927.1_Silent_p.I581I NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 597 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) ATGACAACATCATCGAGCACT 0.547000 12 26 0 0 0.000978 0 0 PRIMPOL 201973 broad.mit.edu 37 4 185603437 185603437 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:185603437C>T ENST00000314970.6 + 9 1476 c.1043C>T c.(1042-1044)cCa>cTa p.P348L CCDC111_ENST00000515774.1_Missense_Mutation_p.P219L|CCDC111_ENST00000512834.1_Missense_Mutation_p.P348L|CCDC111_ENST00000503752.1_Missense_Mutation_p.P348L NM_152683.2 NP_689896.1 Q96LW4 CC111_HUMAN 348 DNA replication, synthesis of RNA primer DNA primase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(2) 16 all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.00531)|Hepatocellular(41;0.00932)|Renal(120;0.0246)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|all_neural(102;0.131) all cancers(43;5.84e-27)|Epithelial(43;2.2e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.28e-11)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.03e-05)|Colorectal(24;7.57e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000249)|COAD - Colon adenocarcinoma(29;0.000502)|LUSC - Lung squamous cell carcinoma(40;0.00995)|READ - Rectum adenocarcinoma(43;0.173) ACATGTGAGCCATCTCAGAAT 0.358000 5 18 0 0 0.001984 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101631753 101631753 + Missense_Mutation SNP C C T rs138439271 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:101631753C>T ENST00000310954.6 - 1 500 c.214G>A c.(214-216)Gaa>Aaa p.E72K NM_180991.4 NP_851322.3 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, member 4C1 72 cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity p.E72K(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 50 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AGCTTCTCTTCGGAGACATTG 0.582000 15 35 0 0 0.004990 0 0 HORMAD2 150280 broad.mit.edu 37 22 30518024 30518024 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:30518024G>A ENST00000336726.6 + 10 995 c.640G>A c.(640-642)Gag>Aag p.E214K HORMAD2_ENST00000403975.1_Missense_Mutation_p.E214K NM_152510.2 NP_689723.1 Q8N7B1 HORM2_HUMAN HORMA domain containing 2 214 HORMA. meiosis|mitosis chromosome|nucleus large_intestine(1)|lung(1) 2 Epithelial(10;0.125) GTTTGACAAGGAGCCTATCAA 0.433000 4 16 0 0 0.009096 0 0 CYP2F1 1572 broad.mit.edu 37 19 41622175 41622175 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:41622175G>A ENST00000331105.2 + 2 154 c.82G>A c.(82-84)Gga>Aga p.G28R NM_000774.3 NP_000765.2 P24903 CP2F1_HUMAN cytochrome P450, family 2, subfamily F, polypeptide 1 28 naphthalene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2) 29 AAGAGATAAGGGAAAGCTGCC 0.567000 33 88 0 0 0.005524 0 0 PANK2 80025 broad.mit.edu 37 20 3891387 3891387 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:3891387C>T ENST00000497424.1 + 3 583 c.272C>T c.(271-273)cCg>cTg p.P91L PANK2_ENST00000336066.3_3'UTR|PANK2_ENST00000316562.4_Missense_Mutation_p.P382L NM_024960.4|NM_153640.2 NP_079236.3|NP_705904.1 Q9BZ23 PANK2_HUMAN pantothenate kinase 2 382 cell death|coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial intermembrane space|nucleus ATP binding|pantothenate kinase activity|protein binding p.P382L(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TTGAAAAATCCGTATCCTCTG 0.403000 13 30 0 0 0.001368 0 0 ADCY1 107 broad.mit.edu 37 7 45726197 45726197 + Silent SNP C C T rs148089389 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:45726197C>T ENST00000297323.7 + 14 2401 c.2379C>T c.(2377-2379)ctC>ctT p.L793L NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 793 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CCATCCTGCTCTTCTCCTGTG 0.627000 16 39 0 0 0.006122 0 0 DNAH17 8632 broad.mit.edu 37 17 76540046 76540046 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:76540046C>T ENST00000389840.5 - 17 2549 c.2425G>A c.(2425-2427)Gac>Aac p.D809N DNAH17_ENST00000585328.1_Missense_Mutation_p.D809N dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TTCTTATTGTCCTTTCTTTCA 0.502000 55 54 0 0 0.003610 0 0 CNGB1 1258 broad.mit.edu 37 16 57931709 57931709 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:57931709C>T ENST00000564448.1 - 30 3128 c.3068G>A c.(3067-3069)gGa>gAa p.G1023E CNGB1_ENST00000251102.8_Missense_Mutation_p.G1029E Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1029 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CCTTATTTCTCCAAACACAGA 0.592000 51 287 0 0 0.003610 0 0 PNKP 11284 broad.mit.edu 37 19 50370417 50370417 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:50370417G>A ENST00000322344.3 - 2 154 c.45C>T c.(43-45)ccC>ccT p.P15P PNKP_ENST00000596014.1_Silent_p.P15P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.P15P|PNKP_ENST00000600910.1_Silent_p.P15P NM_007254.3 NP_009185.2 Q96T60 PNKP_HUMAN polynucleotide kinase 3'-phosphatase 15 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CTCCCCCAGGGGGGCTCTCGA 0.711000 Other BER factors 5 20 0 0 0.000602 0 0 SCN10A 6336 broad.mit.edu 37 3 38768199 38768199 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38768199G>A ENST00000449082.2 - 16 2984 c.2985C>T c.(2983-2985)gtC>gtT p.V995V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 995 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGGGCACAGAGACCCACACAG 0.567000 18 22 0 0 0.008871 0 0 CDC40 51362 broad.mit.edu 37 6 110514406 110514406 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:110514406C>T ENST00000368932.1 + 3 312 c.211C>T c.(211-213)Cac>Tac p.H71Y CDC40_ENST00000368930.1_Missense_Mutation_p.H71Y|CDC40_ENST00000368933.1_Missense_Mutation_p.H71Y|CDC40_ENST00000307731.1_Missense_Mutation_p.H71Y O60508 PRP17_HUMAN cell division cycle 40 71 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) GACTGGAGTTCACCTTGACCC 0.348000 10 37 0 0 0.008291 0 0 MYH2 4620 broad.mit.edu 37 17 10447105 10447105 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10447105G>A ENST00000245503.5 - 8 1048 c.664C>T c.(664-666)Caa>Taa p.Q222* MYH2_ENST00000397183.2_Nonsense_Mutation_p.Q222*|MYH2_ENST00000532183.1_Nonsense_Mutation_p.Q222*|CTC-297N7.7_ENST00000587182.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 222 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CTGATGATTTGATCTTCCAGA 0.522000 12 30 0 0 0.001368 0 0 LRRC7 57554 broad.mit.edu 37 1 70505099 70505099 + Missense_Mutation SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:70505099G>C ENST00000310961.5 + 22 3911 c.3493G>C c.(3493-3495)Gtg>Ctg p.V1165L LRRC7_ENST00000035383.5_Missense_Mutation_p.V1160L|LRRC7_ENST00000415775.2_Missense_Mutation_p.V444L Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1160 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 CAGCGTTACAGTGACTGAGTC 0.498000 18 50 0 0 0.007413 0 0 ZFAT 57623 broad.mit.edu 37 8 135649738 135649738 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:135649738G>A ENST00000520727.1 - 4 677 c.378C>T c.(376-378)atC>atT p.I126I ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000377838.3_Silent_p.I138I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000429442.2_Silent_p.I126I|ZFAT_ENST00000520214.1_Silent_p.I126I NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 138 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) AATTCAGCACGATAATGCAGA 0.507000 23 61 0 0 0.003954 0 0 OR2C3 81472 broad.mit.edu 37 1 247695676 247695676 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247695676G>A ENST00000366487.3 - 2 499 c.138C>T c.(136-138)atC>atT p.I46I GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron NM_198074.4 NP_932340.3 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, member 3 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AGACCAGAATGATGATGCCAT 0.488000 12 36 0 0 0.001855 0 0 KIF21B 23046 broad.mit.edu 37 1 200969850 200969850 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:200969850C>T ENST00000332129.2 - 10 1777 c.1461G>A c.(1459-1461)gaG>gaA p.E487E KIF21B_ENST00000360529.5_Silent_p.E487E|KIF21B_ENST00000461742.2_Silent_p.E487E|KIF21B_ENST00000422435.2_Silent_p.E487E NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 487 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 CTCACCGTAGCTCCTCGATCT 0.637000 23 31 0 0 0.001882 0 0 FGD1 2245 broad.mit.edu 37 X 54496550 54496550 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:54496550C>T ENST00000375135.3 - 4 1733 c.1000G>A c.(1000-1002)Gag>Aag p.E334K NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 334 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTGTCAACCTCTTGGGAGCCA 0.647000 12 4 0 0 0.001855 0 0 ACAN 176 broad.mit.edu 37 15 89398533 89398533 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:89398533C>T ENST00000439576.2 + 12 3091 c.2717C>T c.(2716-2718)tCc>tTc p.S906F ACAN_ENST00000561243.1_Missense_Mutation_p.S906F|ACAN_ENST00000352105.7_Missense_Mutation_p.S906F|ACAN_ENST00000559004.1_Missense_Mutation_p.S906F NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 906 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGTCTTACTTCCACAGTGGGC 0.572000 5 25 0 0 0.000602 0 0 ITK 3702 broad.mit.edu 37 5 156670802 156670802 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:156670802G>A ENST00000422843.3 + 12 1382 c.1230G>A c.(1228-1230)atG>atA p.M410I ITK_ENST00000519749.1_3'UTR NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 410 Protein kinase. cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGAAGTAATGATGTGAGTGC 0.493000 T SYK peripheral T-cell lymphoma 52 146 0 0 0.003610 0 0 OR13G1 441933 broad.mit.edu 37 1 247836268 247836268 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247836268G>A ENST00000359688.2 - 1 97 c.76C>T c.(76-78)Ctc>Ttc p.L26F RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2) 35 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AGAAAAAAGAGGAAGATAATT 0.418000 14 23 0 0 0.003163 0 0 JPH1 56704 broad.mit.edu 37 8 75227454 75227454 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:75227454C>T ENST00000342232.4 - 2 821 c.781G>A c.(781-783)Gat>Aat p.D261N NM_020647.2 NP_065698.1 Q9HDC5 JPH1_HUMAN junctophilin 1 261 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) CAATCTACATCGCCAAAGCTG 0.567000 14 38 0 0 0.001855 0 0 DOPEY1 23033 broad.mit.edu 37 6 83834472 83834472 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:83834472C>T ENST00000349129.2 + 13 1649 c.1389C>T c.(1387-1389)gaC>gaT p.D463D DOPEY1_ENST00000369739.3_Silent_p.D454D|DOPEY1_ENST00000237163.5_Silent_p.D454D NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 463 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) ATAGTAATGACTCATCTGAAT 0.368000 23 82 0 0 0.004656 0 0 ANGPT4 51378 broad.mit.edu 37 20 865741 865741 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:865741C>T ENST00000381922.3 - 4 917 c.815G>A c.(814-816)aGg>aAg p.R272K ANGPT4_ENST00000546022.1_Missense_Mutation_p.R272K NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 272 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 GGCGTTAGCCCTTTCTTGCAC 0.682000 3 13 0 0 0.004672 0 0 VWA8 23078 broad.mit.edu 37 13 42189183 42189183 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:42189183G>A ENST00000379310.3 - 38 4717 c.4649C>T c.(4648-4650)tCc>tTc p.S1550F NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 GTGTTTGGGGGAGCTTACATC 0.493000 7 31 0 0 0.001984 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655883 138655883 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:138655883G>A ENST00000251691.4 + 33 6066 c.5900G>A c.(5899-5901)aGc>aAc p.S1967N NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1967 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GATGACAGAAGCCAGTCCCGG 0.642000 4 11 0 0 0.009096 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130370521 130370521 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:130370521T>A ENST00000529410.1 + 6 676 c.197T>A c.(196-198)gTa>gAa p.V66E L3MBTL3_ENST00000368139.2_Missense_Mutation_p.V66E|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.V66E|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.V66E|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.V66E|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.V66E Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 66 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) ACTTGGATGGTACCAACTGCT 0.363000 5 17 0 0 0.001168 0 0 ATP2C2 9914 broad.mit.edu 37 16 84482186 84482186 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:84482186C>T ENST00000416219.2 + 17 1640 c.1551C>T c.(1549-1551)atC>atT p.I517I ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.I517I O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 517 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 AAGAGGTGATCCGCTACTGCA 0.527000 25 25 0 0 0.003954 0 0 OR2G3 81469 broad.mit.edu 37 1 247768910 247768910 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:247768910C>T ENST00000320002.2 + 1 55 c.23C>T c.(22-24)tCc>tTc p.S8F RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S8F(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) AATGAGAGTTCCCTAATGGAT 0.468000 13 41 0 0 0.001368 0 0 PPP4R4 57718 broad.mit.edu 37 14 94725701 94725701 + Missense_Mutation SNP G G A rs2180398 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94725701G>A ENST00000304338.3 + 19 2276 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K NM_058237.1 NP_478144.1 Q6NUP7 PP4R4_HUMAN protein phosphatase 4, regulatory subunit 4 708 cytoplasm|protein serine/threonine phosphatase complex protein binding NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2) 40 ACTTCTTTTGGAAATGGTATG 0.269000 6 8 0 0 0.001984 0 0 TRIM71 131405 broad.mit.edu 37 3 32931959 32931959 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:32931959C>T ENST00000383763.4 + 4 1326 c.1263C>T c.(1261-1263)gtC>gtT p.V421V NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 421 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 TGCAGCAGGTCCTGGAGGAGG 0.617000 9 36 0 0 0.006214 0 0 FSTL4 23105 broad.mit.edu 37 5 132535325 132535325 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:132535325C>T ENST00000265342.7 - 16 2240 c.1991G>A c.(1990-1992)aGc>aAc p.S664N CTB-49A3.2_ENST00000509051.1_RNA NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 664 extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGAGGCGGGGCTGTCCTGTCG 0.637000 12 29 0 0 0.000978 0 0 DPP10 57628 broad.mit.edu 37 2 116447288 116447288 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:116447288C>T ENST00000410059.1 + 6 947 c.467C>T c.(466-468)tCa>tTa p.S156L DPP10_ENST00000409163.1_Missense_Mutation_p.S106L|DPP10_ENST00000310323.8_Missense_Mutation_p.S149L|DPP10_ENST00000393147.2_Missense_Mutation_p.S160L|DPP10_ENST00000488208.1_3'UTR NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 156 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TATACTGCTTCATATGTGATT 0.259000 9 3 0 0 0.006214 0 0 CASR 846 broad.mit.edu 37 3 121976156 121976156 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:121976156G>A ENST00000498619.1 + 3 852 c.414G>A c.(412-414)acG>acA p.T138T CASR_ENST00000490131.1_Silent_p.T138T|CASR_ENST00000296154.5_Silent_p.T138T NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 138 T -> M (in FHH). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTCCCTCTACGATTGCTGTGG 0.517000 19 40 0 0 0.010504 0 0 KCNJ5 3762 broad.mit.edu 37 11 128786396 128786396 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:128786396T>C ENST00000529694.1 + 3 1406 c.1030T>C c.(1030-1032)Tat>Cat p.Y344H KCNJ5_ENST00000338350.4_Missense_Mutation_p.Y344H|KCNJ5_ENST00000533599.1_Missense_Mutation_p.Y344H NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 344 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) AAAGGGCTTCTATGAGGTGGA 0.562000 42 80 0 0 0.003610 0 0 NADSYN1 55191 broad.mit.edu 37 11 71185492 71185492 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71185492C>T ENST00000319023.2 + 9 906 c.718C>T c.(718-720)Ctg>Ttg p.L240L NM_018161.4 NP_060631.2 Q6IA69 NADE_HUMAN NAD synthetase 1 240 CN hydrolase. NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 25 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CGGGGACCGCCTGTACTACGA 0.562000 17 52 0 0 0.010504 0 0 ZFP42 132625 broad.mit.edu 37 4 188924167 188924167 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:188924167C>T ENST00000326866.4 + 4 614 c.206C>T c.(205-207)tCa>tTa p.S69L ZFP42_ENST00000509524.1_Missense_Mutation_p.S69L NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 69 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GATGATTTCTCAGACTGTTAC 0.498000 10 32 0 0 0.000978 0 0 CTSV 1515 broad.mit.edu 37 9 99798846 99798846 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:99798846C>T ENST00000259470.5 - 5 829 c.580G>A c.(580-582)Gga>Aga p.G194R CTSV_ENST00000538255.1_Missense_Mutation_p.G194R NM_001333.3 NP_001324.2 cathepsin V TCCAGGCCTCCGTTCTCCTTG 0.507000 14 18 0 0 0.003163 0 0 TRIM39 56658 broad.mit.edu 37 6 30298623 30298623 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:30298623C>T ENST00000376659.5 + 4 1117 c.519C>T c.(517-519)tcC>tcT p.S173S TRIM39-RPP21_ENST00000513556.1_Silent_p.S85S|TRIM39_ENST00000396551.3_Silent_p.S173S|TRIM39_ENST00000540416.1_Silent_p.S173S|TRIM39_ENST00000396548.1_Silent_p.S173S|TRIM39_ENST00000396547.1_Silent_p.S173S|TRIM39_ENST00000376656.4_Silent_p.S173S NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 GCTGCAAGTCCTCTGAGGAGA 0.517000 7 36 0 0 0.003080 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029693 13029693 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:13029693G>A ENST00000399002.2 + 2 492 c.218G>A c.(217-219)gGa>gAa p.G73E SPTLC3_ENST00000378194.4_Missense_Mutation_p.G73E|SPTLC3_ENST00000476791.1_3'UTR NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 73 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) TATGGAATTGGAACCCTGTTT 0.398000 28 44 0 0 0.006320 0 0 FBXO38 81545 broad.mit.edu 37 5 147821539 147821539 + Missense_Mutation SNP C C G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:147821539C>G ENST00000340253.5 + 22 3564 c.3396C>G c.(3394-3396)atC>atG p.I1132M FBXO38_ENST00000296701.6_Missense_Mutation_p.I887M|FBXO38_ENST00000513826.1_Missense_Mutation_p.I887M|FBXO38_ENST00000394370.3_Missense_Mutation_p.I1057M Q6PIJ6 FBX38_HUMAN F-box protein 38 1132 cytoplasm|nucleus ATG4C/FBXO38(2) NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGGCACTATCTATGCTCCTA 0.383000 4 15 0 0 0.000602 0 0 ZNF471 57573 broad.mit.edu 37 19 57037299 57037299 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:57037299T>C ENST00000308031.5 + 5 1996 c.1863T>C c.(1861-1863)caT>caC p.H621H ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR NM_020813.2 NP_065864.2 Q9BX82 ZN471_HUMAN zinc finger protein 471 621 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AAAGAAGTCATACTGGAGAAG 0.413000 7 13 0 0 0.003080 0 0 TMEFF2 23671 broad.mit.edu 37 2 192863794 192863794 + Missense_Mutation SNP C C T rs149067350 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:192863794C>T ENST00000392314.1 - 6 1068 c.677G>A c.(676-678)cGa>cAa p.R226Q TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.R226Q|AC098617.1_ENST00000424116.2_RNA Q9UIK5 TEFF2_HUMAN transmembrane protein with EGF-like and two follistatin-like domains 2 226 Kazal-like 2. extracellular region|integral to membrane breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(117;0.0835) ACCTTGACATCGACCCAAAGA 0.368000 16 51 0 0 0.004990 0 0 MLLT6 4302 broad.mit.edu 37 17 36878937 36878937 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:36878937A>G ENST00000325718.7 + 18 2890 c.2799A>G c.(2797-2799)acA>acG p.T933T NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 933 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TCAGCCTTACAGAGCAGCAGA 0.637000 T MLL AL 4 20 0 0 0.009096 0 0 MICAL3 57553 broad.mit.edu 37 22 18300481 18300481 + Missense_Mutation SNP G G T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:18300481G>T ENST00000441493.2 - 26 5298 c.4946C>A c.(4945-4947)tCc>tAc p.S1649Y NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1649 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GCGTGTGGGGGAGTCAGGCCG 0.711000 9 17 1.33987e-11 1.38071e-11 0.008291 1 0 OSMR 9180 broad.mit.edu 37 5 38924671 38924671 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:38924671C>T ENST00000274276.3 + 14 2420 c.2018C>T c.(2017-2019)cCa>cTa p.P673L NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 673 Fibronectin type-III 4. 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) CAGTGCCACCCACGATTTGAA 0.358000 11 53 0 0 0.008291 0 0 SEMA4F 10505 broad.mit.edu 37 2 74889939 74889939 + Silent SNP A A C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:74889939A>C ENST00000357877.2 + 5 686 c.537A>C c.(535-537)gcA>gcC p.A179A SEMA4F_ENST00000339773.5_Intron NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 179 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 AGCGGTCAGCAGCTGTAATGG 0.507000 16 67 0 0 0.004007 0 0 ANGPT1 284 broad.mit.edu 37 8 108264107 108264107 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:108264107C>T ENST00000520734.1 - 8 1158 c.873G>A c.(871-873)atG>atA p.M291I ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Missense_Mutation_p.M290I Q15389 ANGP1_HUMAN angiopoietin 1 491 Fibrinogen C-terminal. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 43 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GTCGAATCATCATAGTTGTGG 0.413000 17 37 0 0 0.004990 0 0 SMC5 23137 broad.mit.edu 37 9 72965375 72965375 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:72965375C>T ENST00000361138.5 + 24 3211 c.3153C>T c.(3151-3153)ttC>ttT p.F1051F SMC5_ENST00000471372.1_3'UTR NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 1051 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 AATACTTTTTCATAACACCAA 0.348000 14 29 0 0 0.002450 0 0 SIRPB1 10326 broad.mit.edu 37 20 1559235 1559235 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:1559235G>A ENST00000381605.4 - 2 246 c.182C>T c.(181-183)cCt>cTt p.P61L RP4-576H24.4_ENST00000564763.1_Missense_Mutation_p.P61L|SIRPB1_ENST00000262929.5_Missense_Mutation_p.P60L|SIRPB1_ENST00000381603.3_Missense_Mutation_p.P61L NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 61 Ig-like V-type. cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGGCCCCACAGGGATCAGGGA 0.537000 23 56 0 0 0.002780 0 0 EYA4 2070 broad.mit.edu 37 6 133789851 133789851 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:133789851G>A ENST00000367895.5 + 11 1416 c.952G>A c.(952-954)Gga>Aga p.G318R EYA4_ENST00000531901.1_Missense_Mutation_p.G318R|EYA4_ENST00000525849.1_Missense_Mutation_p.G295R|EYA4_ENST00000430974.2_Missense_Mutation_p.G264R|EYA4_ENST00000355167.3_Missense_Mutation_p.G318R|EYA4_ENST00000431403.2_Missense_Mutation_p.G318R|EYA4_ENST00000355286.6_Missense_Mutation_p.G295R|EYA4_ENST00000452339.2_Missense_Mutation_p.G264R NM_004100.4 NP_004091.3 O95677 EYA4_HUMAN eyes absent homolog 4 (Drosophila) 318 anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1) 48 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) ATCTCTCCCAGGACTGACTAA 0.408000 28 78 0 0 0.007291 0 0 PCSK5 5125 broad.mit.edu 37 9 78784740 78784740 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:78784740G>A ENST00000545128.1 + 13 2278 c.1740G>A c.(1738-1740)agG>agA p.R580R PCSK5_ENST00000376767.3_Silent_p.R580R|PCSK5_ENST00000376752.4_Silent_p.R580R NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 580 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTCAGCTAAGGAACTTTAAGA 0.423000 19 38 0 0 0.010504 0 0 KRT73 319101 broad.mit.edu 37 12 53005009 53005009 + Silent SNP C C T rs115352534 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:53005009C>T ENST00000305748.3 - 6 1123 c.1089G>A c.(1087-1089)gaG>gaA p.E363E RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 363 Coil 2.|Rod. keratin filament structural molecule activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CACTCTCAATCTCCGAGCGCA 0.567000 22 41 0 0 0.002780 0 0 ZNF799 90576 broad.mit.edu 37 19 12502345 12502345 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:12502345G>A ENST00000419318.1 - 4 1520 c.771C>T c.(769-771)gcC>gcT p.A257A CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Silent_p.A289A Q96GE5 ZN799_HUMAN zinc finger protein 799 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 AAGCACTGAAGGCTTTCCCAC 0.428000 24 54 0 0 0.002299 0 0 PROL1 58503 broad.mit.edu 37 4 71275418 71275418 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:71275418C>T ENST00000399575.2 + 3 547 c.373C>T c.(373-375)Cct>Tct p.P125S PROL1_ENST00000514338.1_3'UTR NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN proline rich, lacrimal 1 125 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 15 all_hematologic(202;0.196) ACCCCCATTTCCTCCTATTCC 0.413000 17 57 0 0 0.007413 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270446 153270446 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153270446G>A ENST00000290722.1 - 7 1064 c.1012C>T c.(1012-1014)Cat>Tat p.H338Y NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 338 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCTTGAAATGAGGCCAGGTG 0.582000 31 77 0 0 0.008361 0 0 DISP1 84976 broad.mit.edu 37 1 223177389 223177389 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:223177389G>A ENST00000284476.6 + 8 2814 c.2650G>A c.(2650-2652)Gag>Aag p.E884K NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 884 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CTACAAGCAAGAGATTTTTGA 0.488000 116 265 0 0 0.003610 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142198033 142198033 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142198033C>T ENST00000471935.1 - 0 36 AGGATGGGAGCTTTGCCCAAT 0.577000 11 27 0 0 0.008291 0 0 PSG5 5673 broad.mit.edu 37 19 43689174 43689174 + Missense_Mutation SNP C C T rs146386413 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:43689174C>T ENST00000404580.1 - 2 278 c.190G>A c.(190-192)Ggc>Agc p.G64S PSG5_ENST00000407568.1_Missense_Mutation_p.G64S|PSG5_ENST00000407356.1_Missense_Mutation_p.G64S|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.G64S|PSG5_ENST00000342951.6_Missense_Mutation_p.G64S|PSG5_ENST00000366175.3_Missense_Mutation_p.G64S Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 64 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) CAGATGTAGCCAGCAAGATTC 0.448000 43 132 0 0 0.008740 0 0 PTPRK 5796 broad.mit.edu 37 6 128326357 128326357 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:128326357C>T ENST00000368227.3 - 15 2732 c.2366G>A c.(2365-2367)gGg>gAg p.G789E PTPRK_ENST00000368213.5_Missense_Mutation_p.G789E|PTPRK_ENST00000368215.3_Missense_Mutation_p.G788E|PTPRK_ENST00000532331.1_Missense_Mutation_p.G789E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G789E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G789E|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.G799E Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 788 cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) CCGGGTATTCCCCATGGCATC 0.463000 14 28 0 0 0.004007 0 0 OBSCN 84033 broad.mit.edu 37 1 228538555 228538555 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:228538555C>T ENST00000570156.2 + 88 21275 c.21201C>T c.(21199-21201)ttC>ttT p.F7067F OBSCN_ENST00000366707.4_Silent_p.F3744F|OBSCN_ENST00000284548.11_Silent_p.F6110F|OBSCN_ENST00000422127.1_Silent_p.F6110F|OBSCN_ENST00000366709.4_Silent_p.F3229F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6110 Pro-rich. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.F6692F(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CACCACGGTTCGTGAACAAGG 0.582000 6 37 0 0 0.001168 0 0 ZFHX4 79776 broad.mit.edu 37 8 77620131 77620131 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:77620131G>A ENST00000521891.2 + 3 3389 c.2941G>A c.(2941-2943)Ggc>Agc p.G981S ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G955S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G955S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G955S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 955 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) TAAAGAAGGGGGCAAAAGCAA 0.428000 HNSCC(33;0.089) 11 49 0 0 0.001368 0 0 C17orf77 146723 broad.mit.edu 37 17 72588888 72588888 + Missense_Mutation SNP C C T rs139358664 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72588888C>T ENST00000392620.1 + 3 1065 c.703C>T c.(703-705)Ccc>Tcc p.P235S C17orf77_ENST00000328023.2_Missense_Mutation_p.P235S NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 235 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 ACTGCCCCTTCCCCCAGGAAC 0.572000 17 64 0 0 0.007413 0 0 LRRC16B 90668 broad.mit.edu 37 14 24525540 24525540 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:24525540G>A ENST00000342740.5 + 11 957 c.803G>A c.(802-804)gGg>gAg p.G268E LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 268 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GGGGTGTTTGGGGAGAACGGG 0.622000 3 11 0 0 0.004672 0 0 ABCA3 21 broad.mit.edu 37 16 2376160 2376160 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:2376160T>A ENST00000301732.5 - 5 870 c.170A>T c.(169-171)tAc>tTc p.Y57F ABCA3_ENST00000567910.1_Missense_Mutation_p.Y57F|ABCA3_ENST00000382381.3_Missense_Mutation_p.Y57F NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 57 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CTGGCCCGGGTAGATGGTGGC 0.577000 20 31 0 0 0.002299 0 0 MEFV 4210 broad.mit.edu 37 16 3293258 3293258 + Silent SNP G G A rs104895152 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:3293258G>A ENST00000219596.1 - 10 2268 c.2229C>T c.(2227-2229)ttC>ttT p.F743F MEFV_ENST00000536379.1_Silent_p.F532F|MEFV_ENST00000339854.4_Silent_p.F563F|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 743 B30.2/SPRY. F -> L (in arFMF). inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) AGCAGCTGGCGAATGTATAGA 0.517000 20 61 0 0 0.010504 0 0 BRINP3 339479 broad.mit.edu 37 1 190250829 190250829 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:190250829G>A ENST00000367462.3 - 3 519 c.288C>T c.(286-288)ttC>ttT p.F96F FAM5C_ENST00000484105.1_Intron|FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 96 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GAGAGCCAAGGAAATTTCTTC 0.403000 8 24 0 0 0.006214 0 0 KCNH7 90134 broad.mit.edu 37 2 163302691 163302691 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:163302691A>T ENST00000332142.5 - 7 1490 c.1391T>A c.(1390-1392)aTa>aAa p.I464K KCNH7_ENST00000328032.4_Missense_Mutation_p.I457K NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 464 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TAAAATATCTATGATAAACAT 0.358000 6 17 0 0 0.001168 0 0 MRPS23 51649 broad.mit.edu 37 17 55917233 55917233 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:55917233A>G ENST00000313608.8 - 5 529 c.484T>C c.(484-486)Ttg>Ctg p.L162L NM_016070.3 NP_057154.2 Q9Y3D9 RT23_HUMAN mitochondrial ribosomal protein S23 162 translation intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome structural constituent of ribosome endometrium(2)|large_intestine(1)|lung(2) 5 Breast(9;8.75e-08) TTTTCTTCCAACGCAGTCTGT 0.478000 29 41 0 0 0.009535 0 0 CCDC74A 90557 broad.mit.edu 37 2 132289353 132289353 + Missense_Mutation SNP C C T rs145934024 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:132289353C>T ENST00000467992.2 + 2 1281 c.967C>T c.(967-969)Cct>Tct p.P323S CCDC74A_ENST00000295171.6_Missense_Mutation_p.P221S|CCDC74A_ENST00000409856.3_Missense_Mutation_p.P155S Q96AQ1 CC74A_HUMAN coiled-coil domain containing 74A 221 p.P221S(1) endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 GGACAAAGTTCCTGGGGTACA 0.577000 25 56 0 0 0.005443 0 0 POTEE 445582 broad.mit.edu 37 2 131976336 131976336 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:131976336G>A ENST00000356920.5 + 1 455 c.361G>A c.(361-363)Gga>Aga p.G121R POTEE_ENST00000358087.5_Missense_Mutation_p.G121R|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 121 ATP binding GGGCGCTTGGGGAGACTACGA 0.602000 21 58 0 0 0.001882 0 0 NUDC 10726 broad.mit.edu 37 1 27269436 27269436 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:27269436C>T ENST00000321265.5 + 6 744 c.621C>T c.(619-621)ctC>ctT p.L207L NM_006600.3 NP_006591.1 Q9Y266 NUDC_HUMAN nudC nuclear distribution protein 207 CS. cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development cytosol|microtubule|nucleoplasm protein binding cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1) 8 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421) GGCGGCACCTCCGGGTGGGGC 0.602000 26 40 0 0 0.004656 0 0 HTR2C 3358 broad.mit.edu 37 X 114141390 114141390 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:114141390C>T ENST00000371950.3 + 6 1418 c.694C>T c.(694-696)Cct>Tct p.P232S HTR2C_ENST00000276198.1_Silent_p.F263F|HTR2C_ENST00000371951.1_Silent_p.F263F NM_001256761.1 NP_001243690.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GTCTGGATTTCCTGAAGTGCT 0.522000 40 22 0 0 0.006230 0 0 TRPM6 140803 broad.mit.edu 37 9 77339653 77339653 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:77339653C>T ENST00000451710.3 - 38 6194 c.5957G>A c.(5956-5958)aGa>aAa p.R1986K TRPM6_ENST00000449912.2_Missense_Mutation_p.R1977K|TRPM6_ENST00000376871.3_Missense_Mutation_p.R819K|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1982K|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1977K|TRPM6_ENST00000376872.3_Missense_Mutation_p.R937K Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1982 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity p.R1982I(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 ATAGTCATTTCTTTTTAAATC 0.413000 13 31 0 0 0.002450 0 0 CCDC54 84692 broad.mit.edu 37 3 107096458 107096458 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:107096458G>A ENST00000261058.1 + 1 271 c.24G>A c.(22-24)agG>agA p.R8R NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 8 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 ACACCAAAAGGGTAAAAGCTG 0.398000 20 43 0 0 0.008871 0 0 COL5A3 50509 broad.mit.edu 37 19 10089653 10089653 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:10089653C>T ENST00000264828.3 - 40 2963 c.2878G>A c.(2878-2880)Gaa>Aaa p.E960K NM_015719.3 NP_056534.2 P25940 CO5A3_HUMAN collagen, type V, alpha 3 960 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGTCCCAGTTCCCCCTACAGG 0.622000 3 11 0 0 0.004672 0 0 KDM8 79831 broad.mit.edu 37 16 27221559 27221559 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:27221559G>A ENST00000286096.4 + 2 288 c.115G>A c.(115-117)Gag>Aag p.E39K KDM8_ENST00000380948.2_Missense_Mutation_p.E39K|KDM8_ENST00000441782.2_Missense_Mutation_p.E77K|KDM8_ENST00000568965.1_Missense_Mutation_p.E39K NM_024773.2 NP_079049.2 Q8N371 KDM8_HUMAN lysine (K)-specific demethylase 8 39 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen GGACCTCGGGGAGAAAGTGGA 0.612000 18 23 0 0 0.006122 0 0 ZNF812 729648 broad.mit.edu 37 19 9801757 9801757 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9801757G>A ENST00000457674.2 - 5 940 c.422C>T c.(421-423)cCa>cTa p.P141L ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTTCCACATGGATTAAATTT 0.398000 6 19 0 0 0.004482 0 0 TYRO3 7301 broad.mit.edu 37 15 41854896 41854896 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:41854896C>T ENST00000263798.3 + 4 784 c.560C>T c.(559-561)cCa>cTa p.P187L TYRO3_ENST00000559066.1_Missense_Mutation_p.P142L NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 187 Ig-like C2-type 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GCTCCCTCTCCATCTGTTTTA 0.572000 5 16 0 0 0.001984 0 0 EXD2 55218 broad.mit.edu 37 14 69704344 69704344 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:69704344G>A ENST00000409014.1 + 10 1627 c.970G>A c.(970-972)Gac>Aac p.D324N EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000449989.1_Missense_Mutation_p.D324N|EXD2_ENST00000409949.1_Missense_Mutation_p.D324N|EXD2_ENST00000409675.1_Missense_Mutation_p.D324N|EXD2_ENST00000409242.1_Missense_Mutation_p.D324N|EXD2_ENST00000312994.5_Missense_Mutation_p.D449N|EXD2_ENST00000409018.3_Missense_Mutation_p.D449N NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 324 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 CGAGATGAAGGACCACAACTC 0.532000 3 25 0 0 0.004672 0 0 LOC81691 81691 broad.mit.edu 37 16 20857542 20857542 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20857542G>A ENST00000261377.6 + 19 2333 c.e19-1 AC004381.6_ENST00000564274.1_Splice_Site|AC004381.6_ENST00000348433.6_Splice_Site|ERI2_ENST00000564349.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 TTTGATCCCAGACTCTGAAAC 0.547000 48 111 0 0 0.003610 0 0 SMG1 23049 broad.mit.edu 37 16 18853713 18853713 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:18853713T>C ENST00000446231.2 - 40 6695 c.6283A>G c.(6283-6285)Atc>Gtc p.I2095V SMG1_ENST00000389467.3_Missense_Mutation_p.I2095V Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2095 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 CATGGACTGATTTCTTCAAGA 0.428000 18 25 0 0 0.006122 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8215754 8215754 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:8215754C>T ENST00000361926.3 + 2 507 c.397C>T c.(397-399)Ccc>Tcc p.P133S ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P133S NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 133 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 GCCTCTGCTCCCCATGGCTGG 0.677000 17 64 0 0 0.004990 0 0 CASP9 842 broad.mit.edu 37 1 15819453 15819453 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:15819453G>A ENST00000333868.5 - 9 1330 c.1236C>T c.(1234-1236)ttC>ttT p.F412F CASP9_ENST00000348549.5_Silent_p.F262F|CASP9_ENST00000546424.1_3'UTR|CASP9_ENST00000375890.4_Silent_p.F329F NM_001229.3 NP_001220.2 P55211 CASP9_HUMAN caspase 9, apoptosis-related cysteine peptidase 412 activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) ATGTTTTAAAGAAAAGTTTTT 0.483000 34 63 0 0 0.004878 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419601 105419601 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:105419601G>A ENST00000333244.5 - 7 2306 c.2187C>T c.(2185-2187)tcC>tcT p.S729S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 729 nucleus p.S729S(1) cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCAGGTCAGCGGAAGGGGTCT 0.652000 37 75 0 0 0.004878 0 0 F5 2153 broad.mit.edu 37 1 169524446 169524446 + Silent SNP T T G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:169524446T>G ENST00000367796.3 - 7 1293 c.1092A>C c.(1090-1092)gcA>gcC p.A364A F5_ENST00000546081.1_Silent_p.A227A|F5_ENST00000367797.3_Silent_p.A364A P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 364 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GTATTACAGGTGCATAGTCCC 0.458000 34 73 0 0 0.003755 0 0 C1QTNF2 114898 broad.mit.edu 37 5 159781847 159781847 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:159781847C>T ENST00000393975.3 - 2 310 c.307G>A c.(307-309)Gga>Aga p.G103R NM_031908.4 NP_114114.2 Q9BXJ5 C1QT2_HUMAN C1q and tumor necrosis factor related protein 2 58 Collagen-like. collagen breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 13 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCCATTCGTCCCATCATTCCT 0.662000 6 10 0 0 0.001168 0 0 CA1 759 broad.mit.edu 37 8 86240894 86240894 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:86240894G>A ENST00000523953.1 - 9 1727 c.681C>T c.(679-681)ttC>ttT p.F227F CA1_ENST00000432364.2_Silent_p.F227F|CA1_ENST00000542576.1_Silent_p.F227F|CA1_ENST00000523022.1_Silent_p.F227F|CA1_ENST00000256119.5_Silent_p.F227F|CA1_ENST00000522389.1_Silent_p.F93F|CA1_ENST00000431316.1_Silent_p.F227F P00915 CAH1_HUMAN carbonic anhydrase I 227 one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GAAGGCTGCGGAATTGTGCCA 0.388000 24 46 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179494052 179494052 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179494052C>T ENST00000589042.1 - 240 44624 c.44400G>A c.(44398-44400)ggG>ggA p.G14800G TTN_ENST00000342992.6_Silent_p.G12232G|TTN_ENST00000359218.5_Silent_p.G5860G|TTN_ENST00000460472.2_Silent_p.G5735G|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Silent_p.G5927G|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.G13159G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13159 Fibronectin type-III 6. 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) CTAGTTTCTTCCCTTTGAGAT 0.478000 9 16 0 0 0.004482 0 0 CCDC67 159989 broad.mit.edu 37 11 93148173 93148173 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:93148173C>T ENST00000298050.3 + 13 1631 c.1531C>T c.(1531-1533)Cat>Tat p.H511Y CCDC67_ENST00000525646.1_Missense_Mutation_p.H253Y NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 511 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) TAGACTTAGTCATGACTGTGA 0.383000 21 46 0 0 0.008871 0 0 COL6A6 131873 broad.mit.edu 37 3 130287413 130287413 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:130287413A>G ENST00000358511.6 + 5 2397 c.2366A>G c.(2365-2367)gAt>gGt p.D789G COL6A6_ENST00000453409.2_Missense_Mutation_p.D789G NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 789 Nonhelical region.|VWFA 4. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGCATTGAAGATGATCTTGTT 0.458000 18 37 0 0 0.010504 0 0 GPD1 2819 broad.mit.edu 37 12 50501442 50501442 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:50501442G>A ENST00000301149.3 + 6 937 c.705G>A c.(703-705)atG>atA p.M235I GPD1_ENST00000547190.1_Intron|GPD1_ENST00000548814.1_Missense_Mutation_p.M212I NM_001257199.1|NM_005276.3 NP_001244128.1|NP_005267.2 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 235 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 NADH(DB00157) TCATGGAGATGATAGCCTTCG 0.587000 38 107 0 0 0.004878 0 0 ZBED4 9889 broad.mit.edu 37 22 50279400 50279400 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:50279400C>T ENST00000216268.4 + 2 2567 c.2090C>T c.(2089-2091)cCt>cTt p.P697L NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 697 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CTCCCCGCCCCTTCCTACTTC 0.458000 31 68 0 0 0.003271 0 0 OR4M1 441670 broad.mit.edu 37 14 20248610 20248610 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20248610C>T ENST00000315957.4 + 1 210 c.129C>T c.(127-129)atC>atT p.I43I NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CAGGAAATATCCTTATCATTT 0.418000 45 92 0 0 0.003610 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884867 228884867 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:228884867C>T ENST00000392056.3 - 7 749 c.703G>A c.(703-705)Gaa>Aaa p.E235K SPHKAP_ENST00000344657.5_Missense_Mutation_p.E235K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 235 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTTATATTTTCATAATCTAGT 0.343000 27 55 0 0 0.006320 0 0 KMT2D 8085 broad.mit.edu 37 12 49425089 49425089 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:49425089G>A ENST00000301067.7 - 39 13398 c.13399C>T c.(13399-13401)Ctc>Ttc p.L4467F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TTTGCCCGGAGTAGCTTCTGC 0.627000 18 35 0 0 0.008871 0 0 KPRP 448834 broad.mit.edu 37 1 152732712 152732712 + Silent SNP C C T rs138779194 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152732712C>T ENST00000368773.1 + 2 706 c.648C>T c.(646-648)agC>agT p.S216S KPRP_ENST00000606109.1_Silent_p.S216S NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 216 cytoplasm NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTACAGCAGCTGTTTCCCTC 0.562000 28 77 0 0 0.002096 0 0 MYLK2 85366 broad.mit.edu 37 20 30407947 30407947 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:30407947C>T ENST00000375994.2 + 2 344 c.71C>T c.(70-72)cCc>cTc p.P24L MYLK2_ENST00000375985.4_Missense_Mutation_p.P24L Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 24 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTAAAGGTCCCACAGGTGAA 0.602000 15 31 0 0 0.004007 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003415 75003415 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:75003415C>T ENST00000373359.2 - 1 1664 c.1472G>A c.(1471-1473)cGa>cAa p.R491Q NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 491 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTTCTGTGGTCGCTTTCTGTA 0.478000 14 11 0 0 0.003163 0 0 CCR2 729230 broad.mit.edu 37 3 46399427 46399427 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:46399427G>A ENST00000292301.4 + 2 894 c.409G>A c.(409-411)Gat>Aat p.D137N CCR2_ENST00000445132.2_Missense_Mutation_p.D137N|CCR2_ENST00000400888.2_Missense_Mutation_p.D137N|CCR2_ENST00000465202.1_Intron NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 137 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) CCTGACAATCGATAGATACCT 0.458000 115 232 0 0 0.003610 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216441 20216441 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:20216441C>T ENST00000331723.1 + 1 855 c.855C>T c.(853-855)ccC>ccT p.P285P NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTTGAACCCCCTCATCTACA 0.413000 17 39 0 0 0.004990 0 0 MICAL1 64780 broad.mit.edu 37 6 109773720 109773720 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:109773720G>A ENST00000368952.4 - 5 1017 c.727C>T c.(727-729)Cct>Tct p.P243S MICAL1_ENST00000483856.1_5'UTR|MICAL1_ENST00000358807.3_Missense_Mutation_p.P224S|MICAL1_ENST00000358577.3_Missense_Mutation_p.P224S Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 224 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding p.P224S(1) NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) TCACCTTCAGGGACGAATTTA 0.552000 8 31 0 0 0.004482 0 0 CROCC 9696 broad.mit.edu 37 1 17272816 17272816 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:17272816C>T ENST00000375541.5 + 16 2268 c.2199C>T c.(2197-2199)tcC>tcT p.S733S CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 733 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) AGGAGGCCTCCCTGCAGGACT 0.627000 14 44 0 0 0.002450 0 0 SIVA1 10572 broad.mit.edu 37 14 105221989 105221989 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:105221989C>T ENST00000329967.6 + 2 243 c.141C>T c.(139-141)ttC>ttT p.F47F SIVA1_ENST00000347067.5_Intron NM_006427.3 NP_006418.2 O15304 SIVA_HUMAN SIVA1, apoptosis-inducing factor 47 Interaction with BCL2L1 isoform Bcl-x(L) and inhibition of BCL2L1 anti-apoptotic activity. activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity cytoplasm|mitochondrion|nucleoplasm|nucleus caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding large_intestine(1)|lung(1)|prostate(1) 3 all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172) all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116) Epithelial(152;0.173) GACTCCTGTTCCTCGGGGCCC 0.597000 20 58 0 0 0.003954 0 0 FMN2 56776 broad.mit.edu 37 1 240286540 240286540 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:240286540G>A ENST00000319653.9 + 2 1907 c.1677G>A c.(1675-1677)gaG>gaA p.E559E NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 559 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.E702E(1) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGAAGCAGAGAAGTTTTGCT 0.522000 17 38 0 0 0.004990 0 0 PRRG3 79057 broad.mit.edu 37 X 150868549 150868549 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:150868549G>A ENST00000370353.3 + 3 479 c.89G>A c.(88-90)gGc>gAc p.G30D PRRG3_ENST00000538575.1_Missense_Mutation_p.G30D|PRRG3_ENST00000370354.1_Missense_Mutation_p.G38D Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 30 Gla. extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) CTGCGCCAGGGCACCATCGAG 0.562000 16 7 0 0 0.004007 0 0 SDSL 113675 broad.mit.edu 37 12 113865885 113865885 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:113865885C>T ENST00000403593.4 + 2 360 c.98C>T c.(97-99)cCt>cTt p.P33L SDSL_ENST00000345635.4_Missense_Mutation_p.P33L Q96GA7 SDSL_HUMAN serine dehydratase-like 33 cellular amino acid metabolic process L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2) 15 Pyridoxal Phosphate(DB00114) GCGGGCATGCCTGTCTTCCTC 0.612000 6 11 0 0 0.001168 0 0 INPPL1 3636 broad.mit.edu 37 11 71942105 71942105 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:71942105G>A ENST00000298229.2 + 12 1573 c.1369G>A c.(1369-1371)Gag>Aag p.E457K INPPL1_ENST00000538751.1_Missense_Mutation_p.E215K|INPPL1_ENST00000541756.1_Missense_Mutation_p.E215K NM_001567.3 NP_001558.3 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 457 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GACCCTGGACGAGGTCACAGT 0.587000 42 113 0 0 0.007835 0 0 TTN 7273 broad.mit.edu 37 2 179398780 179398780 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179398780C>T ENST00000589042.1 - 358 102786 c.102562G>A c.(102562-102564)Gaa>Aaa p.E34188K TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E31620K|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25248K|TTN_ENST00000460472.2_Missense_Mutation_p.E25123K|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25315K|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E32547K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585358.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32547 Ser-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCCATCTTCGTAGGTGATT 0.398000 18 27 0 0 0.004990 0 0 FOXH1 8928 broad.mit.edu 37 8 145700562 145700562 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:145700562G>A ENST00000377317.4 - 2 835 c.257C>T c.(256-258)tCc>tTc p.S86F FOXH1_ENST00000525197.1_5'UTR NM_003923.2 NP_003914.1 O75593 FOXH1_HUMAN forkhead box H1 86 axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway activin responsive factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCGGTTGGAGGAAAGGTTGTG 0.652000 13 15 0 0 0.004007 0 0 MKL2 57496 broad.mit.edu 37 16 14306259 14306259 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:14306259G>A ENST00000571589.1 + 5 441 c.269G>A c.(268-270)cGa>cAa p.R90Q MKL2_ENST00000573051.1_Missense_Mutation_p.R39Q|MKL2_ENST00000574045.1_Missense_Mutation_p.R90Q|MKL2_ENST00000318282.5_Missense_Mutation_p.R90Q|MKL2_ENST00000341243.5_Missense_Mutation_p.R79Q|MKL2_ENST00000572567.1_Missense_Mutation_p.R79Q NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 79 cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AGCTTGGAACGAGCCAGAGTA 0.388000 14 24 0 0 0.001855 0 0 DNAH11 8701 broad.mit.edu 37 7 21744143 21744143 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:21744143C>T ENST00000328843.6 + 39 6417 c.6386C>T c.(6385-6387)cCa>cTa p.P2129L DNAH11_ENST00000409508.3_Missense_Mutation_p.P2122L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2129 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GACCTGTTTCCAGCCCTGGAT 0.527000 Kartagener syndrome 12 22 0 0 0.001855 0 0 CHCHD10 400916 broad.mit.edu 37 22 24108364 24108364 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:24108364G>A ENST00000520222.1 - 2 141 c.140C>T c.(139-141)cCc>cTc p.P47L CHCHD10_ENST00000484558.2_Silent_p.S120S|CHCHD10_ENST00000401675.3_Silent_p.S127S Q8WYQ3 CHC10_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 10 0 mitochondrion large_intestine(2)|lung(1) 3 CCTCACACAGGGACAGGTCAC 0.662000 4 15 0 0 0.000602 0 0 WDR81 124997 broad.mit.edu 37 17 1631646 1631646 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:1631646C>T ENST00000409644.1 + 1 3393 c.3393C>T c.(3391-3393)ccC>ccT p.P1131P WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Silent_p.P80P NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 0 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGGGTGCCCCCGTGGACAAGA 0.657000 16 42 0 0 0.006122 0 0 KCNK10 54207 broad.mit.edu 37 14 88693803 88693803 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:88693803G>A ENST00000340700.5 - 4 1033 c.582C>T c.(580-582)ctC>ctT p.L194L KCNK10_ENST00000319231.5_Silent_p.L199L|KCNK10_ENST00000312350.5_Silent_p.L199L NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 194 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 AGAAACCAAAGAGTGGAATTC 0.413000 24 55 0 0 0.002780 0 0 IGSF9B 22997 broad.mit.edu 37 11 133790338 133790338 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:133790338G>A ENST00000321016.8 - 18 3512 c.3282C>T c.(3280-3282)atC>atT p.I1094I IGSF9B_ENST00000533871.2_Silent_p.I1094I Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1094 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) CCAGAGACAGGATGCCCGGGT 0.716000 17 27 0 0 0.006122 0 0 NXPH1 30010 broad.mit.edu 37 7 8791333 8791333 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:8791333A>T ENST00000405863.1 + 3 1661 c.750A>T c.(748-750)aaA>aaT p.K250N NXPH1_ENST00000602349.1_Missense_Mutation_p.K133N|NXPH1_ENST00000497400.1_3'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 250 V (Cys-rich). extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CAGATTATAAACTGGTACAGA 0.458000 10 15 0 0 0.008291 0 0 BIN2 51411 broad.mit.edu 37 12 51695836 51695836 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:51695836C>T ENST00000267012.4 - 5 437 c.376G>A c.(376-378)Gaa>Aaa p.E126K BIN2_ENST00000452142.2_Intron|BIN2_ENST00000544402.1_Missense_Mutation_p.E100K|BIN2_ENST00000604560.1_Missense_Mutation_p.E99K NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 126 BAR. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 ACATAGATTTCCATGGTCCTT 0.458000 8 19 0 0 0.008291 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527628 65527628 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:65527628G>A ENST00000310193.3 - 4 1185 c.1012C>T c.(1012-1014)Ccc>Tcc p.P338S CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 338 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AGGTGGATGGGAAATCCAGAC 0.443000 6 21 0 0 0.003080 0 0 CRNKL1 51340 broad.mit.edu 37 20 20031172 20031172 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:20031172G>A ENST00000377340.2 - 3 660 c.629C>T c.(628-630)cCt>cTt p.P210L CRNKL1_ENST00000377327.4_Missense_Mutation_p.P198L|CRNKL1_ENST00000536226.1_Missense_Mutation_p.P49L NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 210 Poly-Pro. spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 CTTCTGTTGAGGTGGAGGTGG 0.393000 11 16 0 0 0.008291 0 0 CPS1 1373 broad.mit.edu 37 2 211447396 211447396 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:211447396C>A ENST00000233072.5 + 6 780 c.584C>A c.(583-585)cCa>cAa p.P195Q CPS1_ENST00000430249.2_Missense_Mutation_p.P201Q NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 195 Anthranilate phosphoribosyltransferase homolog. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTTGTGGATCCAAATAAACAG 0.338000 10 39 0.00185496 0.00189269 0.001855 1 0 BBOX1 8424 broad.mit.edu 37 11 27077077 27077077 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:27077077T>C ENST00000263182.3 + 3 468 c.100T>C c.(100-102)Ttg>Ctg p.L34L BBOX1_ENST00000529202.1_Silent_p.L34L|BBOX1_ENST00000528583.1_Silent_p.L34L|BBOX1_ENST00000525090.1_Silent_p.L34L|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000527505.1_3'UTR NM_003986.2 NP_003977.1 O75936 BODG_HUMAN butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 34 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 23 Succinic acid(DB00139)|Vitamin C(DB00126) AGCTGTATGGTTGAGAGACAA 0.473000 13 21 0 0 0.001855 0 0 PTCH1 5727 broad.mit.edu 37 9 98231303 98231303 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:98231303G>A ENST00000430669.2 - 14 2367 c.1782C>T c.(1780-1782)tcC>tcT p.S594S PTCH1_ENST00000429896.2_Silent_p.S509S|PTCH1_ENST00000375274.2_Silent_p.S659S|PTCH1_ENST00000331920.6_Silent_p.S660S|PTCH1_ENST00000437951.1_Silent_p.S594S|PTCH1_ENST00000418258.1_Silent_p.S509S|PTCH1_ENST00000421141.1_Silent_p.S509S Q13635 PTC1_HUMAN patched 1 660 SSD. embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) GCTGGACAGTGGACTGCATGG 0.617000 24 66 0 0 0.004656 0 0 KL 9365 broad.mit.edu 37 13 33629241 33629241 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:33629241G>A ENST00000380099.3 + 3 1396 c.1388G>A c.(1387-1389)gGt>gAt p.G463D KL_ENST00000426690.2_Missense_Mutation_p.G156D|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 463 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CTCATGGATGGTTTCGAGTGG 0.517000 26 70 0 0 0.003954 0 0 PILRB 29990 broad.mit.edu 37 7 99955874 99955874 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:99955874C>T ENST00000448382.1 + 6 1432 c.315C>T c.(313-315)ctC>ctT p.L105L PILRB_ENST00000444874.1_5'UTR|PILRB_ENST00000444073.1_5'UTR|PILRB_ENST00000452089.1_5'UTR|PILRB_ENST00000310771.4_5'UTR Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 0 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGCCCCTCTCCTGCCTGGAC 0.701000 23 49 0 0 0.004656 0 0 FUT8 2530 broad.mit.edu 37 14 66028473 66028473 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:66028473C>T ENST00000360689.5 + 3 1919 c.192C>T c.(190-192)gcC>gcT p.A64A FUT8_ENST00000394586.2_Silent_p.A64A|FUT8_ENST00000394585.1_Silent_p.A64A|FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 64 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GGCGAATGGCCGAATCTCTCC 0.403000 7 15 0 0 0.003080 0 0 COL15A1 1306 broad.mit.edu 37 9 101829170 101829170 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:101829170T>C ENST00000375001.3 + 40 4081 c.3658T>C c.(3658-3660)Ttg>Ctg p.L1220L NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 1220 Nonhelical region 10 (NC10). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TCAGCTGCATTTGGCTGCTCT 0.483000 15 32 0 0 0.003163 0 0 CHKA 1119 broad.mit.edu 37 11 67832028 67832028 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:67832028G>A ENST00000265689.4 - 10 1222 c.1196C>T c.(1195-1197)tCc>tTc p.S399F CHKA_ENST00000356135.5_Missense_Mutation_p.S381F NM_001277.2 NP_001268.2 P35790 CHKA_HUMAN choline kinase alpha 399 lipid transport|phosphatidylethanolamine biosynthetic process cytoplasm ATP binding|choline kinase activity|drug binding|ethanolamine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Choline(DB00122) TTTTATAATGGATTTTTCTTC 0.294000 4 10 0 0 0.009096 0 0 GPR116 221395 broad.mit.edu 37 6 46847735 46847735 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46847735C>T ENST00000283296.7 - 9 1144 c.856G>A c.(856-858)Ggg>Agg p.G286R GPR116_ENST00000362015.4_Missense_Mutation_p.G286R|GPR116_ENST00000456426.2_Intron|GPR116_ENST00000265417.7_Missense_Mutation_p.G286R NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 286 Ig-like 1. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) ACTGTGTCCCCTTCAAAGATG 0.408000 15 41 0 0 0.002450 0 0 TNIP2 79155 broad.mit.edu 37 4 2746568 2746568 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:2746568G>A ENST00000510267.1 - 4 868 c.441C>T c.(439-441)ccC>ccT p.P147P TNIP2_ENST00000505186.1_5'UTR|TNIP2_ENST00000503235.1_Intron|TNIP2_ENST00000315423.7_Silent_p.P254P NM_001161527.1 NP_001154999.1 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 254 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCATCAGCTCGGGCTCGTGGG 0.597000 12 39 0 0 0.001368 0 0 OR6T1 219874 broad.mit.edu 37 11 123814015 123814015 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:123814015G>A ENST00000321252.2 - 1 565 c.531C>T c.(529-531)ttC>ttT p.F177F NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 177 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGTCACGAAAGAAGTGGTCAA 0.562000 27 31 0 0 0.006320 0 0 LRP1B 53353 broad.mit.edu 37 2 141641501 141641501 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:141641501T>A ENST00000389484.3 - 25 5025 c.4054A>T c.(4054-4056)Ata>Tta p.I1352L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1352 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTGCTGTCTATCCAGTATATG 0.493000 TSP Lung(27;0.18) 27 65 0 0 0.007291 0 0 TCP10L2 401285 broad.mit.edu 37 6 167585642 167585642 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:167585642G>A ENST00000366832.2 + 2 141 c.10G>A c.(10-12)Ggt>Agt p.G4S NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 4 endometrium(1)|kidney(2)|lung(3) 6 GATGCTGGAGGGTCAGCTCGA 0.657000 4 9 0 0 0.009096 0 0 ATL1 51062 broad.mit.edu 37 14 51099023 51099023 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:51099023A>G ENST00000441560.2 + 14 2109 c.1628A>G c.(1627-1629)gAa>gGa p.E543G ATL1_ENST00000357032.3_Missense_Mutation_p.E548G|ATL1_ENST00000354525.4_Missense_Mutation_p.E543G|ATL1_ENST00000358385.6_Missense_Mutation_p.E548G NM_001127713.1 NP_001121185.1 Q8WXF7 ATLA1_HUMAN atlastin GTPase 1 548 Sufficient for membrane association. axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome GTP binding|GTPase activity|identical protein binding central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3) 18 CCAAAGTCGGAATCTACTGAA 0.338000 5 18 0 0 0.001984 0 0 OR3A2 4995 broad.mit.edu 37 17 3181392 3181392 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:3181392C>T ENST00000408891.2 - 1 876 c.838G>A c.(838-840)Gat>Aat p.D280N NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 280 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 ACCCCTTTATCCTTGTCTGAA 0.478000 14 32 0 0 0.002450 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504398 151504398 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:151504398G>A ENST00000317605.4 + 1 1322 c.217G>A c.(217-219)Gaa>Aaa p.E73K LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 73 nervous system development nucleus breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) TTCGCCCACCGAATTTGAGGT 0.607000 11 22 0 0 0.000978 0 0 TRBV6-9 28598 broad.mit.edu 37 7 142104228 142104228 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142104228G>A ENST00000390379.1 - 0 236 AGCCATCGGGGACTTCTCCTT 0.517000 31 79 0 0 0.009535 0 0 PTH 5741 broad.mit.edu 37 11 13514157 13514157 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:13514157G>A ENST00000282091.1 - 3 257 c.143C>T c.(142-144)tCg>tTg p.S48L PTH_ENST00000529816.1_Missense_Mutation_p.S48L NM_000315.2 NP_000306.1 P01270 PTHY_HUMAN parathyroid hormone 48 bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development hormone activity|peptide hormone receptor binding p.S48L(1) endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 10 BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836) TCTCTCCATCGAGTTCAGATG 0.498000 24 39 0 0 0.006320 0 0 OR7D2 162998 broad.mit.edu 37 19 9296555 9296555 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9296555C>T ENST00000344248.2 + 1 277 c.98C>T c.(97-99)tCc>tTc p.S33F NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 33 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 CTGTTCCTGTCCATGTACCTG 0.507000 14 21 0 0 0.003163 0 0 PFKL 5211 broad.mit.edu 37 21 45732069 45732069 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:45732069C>T ENST00000403390.1 + 5 460 c.460C>T c.(460-462)Cag>Tag p.Q154* PFKL_ENST00000349048.4_Nonsense_Mutation_p.Q107*|PFKL_ENST00000496824.1_3'UTR P17858 K6PL_HUMAN phosphofructokinase, liver 107 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) CAACCTGGTCCAGCACGGCAT 0.657000 3 4 0 0 0.009096 0 0 RYR3 6263 broad.mit.edu 37 15 34040321 34040321 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:34040321G>A ENST00000389232.4 + 54 8066 c.7996G>A c.(7996-7998)Gaa>Aaa p.E2666K RYR3_ENST00000415757.3_Missense_Mutation_p.E2666K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2666 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTAGGAGAAGGAAATTTATCG 0.547000 27 20 0 0 0.008361 0 0 DNAH5 1767 broad.mit.edu 37 5 13751222 13751222 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13751222G>A ENST00000265104.4 - 65 11280 c.11176C>T c.(11176-11178)Cag>Tag p.Q3726* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3726 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCCAGTAACTGATCTTCTAGA 0.453000 Kartagener syndrome 15 42 0 0 0.003163 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022436 51022436 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51022436G>A ENST00000599957.1 - 3 731 c.534C>T c.(532-534)ttC>ttT p.F178F LRRC4B_ENST00000389201.3_Silent_p.F178F Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 178 cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) GCACGCGGTTGAAGGCGTAGG 0.672000 20 43 0 0 0.010504 0 0 NCAN 1463 broad.mit.edu 37 19 19334879 19334879 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:19334879C>T ENST00000252575.5 + 4 568 c.525C>T c.(523-525)ttC>ttT p.F175F NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan 175 Link 1. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding p.F175L(1)|p.F189L(1) breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CACTGACCTTCGCTGAGGCCC 0.577000 17 34 0 0 0.001882 0 0 LRRC18 474354 broad.mit.edu 37 10 50121466 50121466 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:50121466G>A ENST00000374160.3 - 1 811 c.735C>T c.(733-735)tcC>tcT p.S245S LRRC18_ENST00000298124.3_Silent_p.S245S|WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron NM_001006939.3 NP_001006940.3 Q8N456 LRC18_HUMAN leucine rich repeat containing 18 245 cytoplasm p.S245S(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 CCTTGGCCATGGAATTGGGTG 0.537000 41 76 0 0 0.006230 0 0 DNAH10 196385 broad.mit.edu 37 12 124341748 124341748 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:124341748T>C ENST00000409039.3 + 36 6255 c.6230T>C c.(6229-6231)gTa>gCa p.V2077A NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2077 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AACGATGCGGTAGAGCAGGTC 0.527000 16 21 0 0 0.008871 0 0 SLC17A5 26503 broad.mit.edu 37 6 74325154 74325154 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:74325154G>A ENST00000355773.5 - 8 1263 c.995C>T c.(994-996)tCa>tTa p.S332L SLC17A5_ENST00000393019.3_3'UTR NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 332 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATAAGGCAATGAAGATAAAAA 0.368000 8 24 0 0 0.004482 0 0 CCDC141 285025 broad.mit.edu 37 2 179736919 179736919 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179736919C>T ENST00000420890.2 - 13 2137 c.2020G>A c.(2020-2022)Gcc>Acc p.A674T CCDC141_ENST00000295723.5_Missense_Mutation_p.A99T NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 99 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CTTTCCGTGGCTTTAAGCTGC 0.458000 8 23 0 0 0.003080 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229160 8229160 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8229160G>A ENST00000539824.1 + 12 1885 c.1511G>A c.(1510-1512)cGg>cAg p.R504Q SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.R580Q Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 580 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 TCCCAGGCCCGGGTGTACTTT 0.667000 24 67 0 0 0.004656 0 0 POM121L12 285877 broad.mit.edu 37 7 53103667 53103667 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:53103667C>T ENST00000408890.4 + 1 319 c.303C>T c.(301-303)gcC>gcT p.A101A NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 101 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 GGCGCCCTGCCCTTCCCGGGG 0.726000 8 22 0 0 0.003080 0 0 NEB 4703 broad.mit.edu 37 2 152490301 152490301 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:152490301C>T ENST00000397345.3 - 65 9483 c.9281G>A c.(9280-9282)gGg>gAg p.G3094E NEB_ENST00000172853.10_Intron|NEB_ENST00000409198.1_Intron|NEB_ENST00000603639.1_Missense_Mutation_p.G3094E|NEB_ENST00000427231.2_Missense_Mutation_p.G3094E|NEB_ENST00000604864.1_Missense_Mutation_p.G3094E NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 3094 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CAGCACCACCCCCAGCATGTC 0.532000 76 176 0 0 0.003610 0 0 IGHV3-23 28442 broad.mit.edu 37 14 106725293 106725293 + RNA SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106725293A>G ENST00000390609.2 - 0 337 GAGATGGTGAACCGGCCCTTC 0.552000 37 103 0 0 0.004289 0 0 OR6C3 254786 broad.mit.edu 37 12 55725759 55725759 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55725759A>G ENST00000379667.1 + 1 275 c.275A>G c.(274-276)aAc>aGc p.N92S NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 ATTTCCTATAACAACTGTGCA 0.413000 11 40 0 0 0.008291 0 0 C6 729 broad.mit.edu 37 5 41159289 41159289 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:41159289G>A ENST00000263413.3 - 12 2015 c.1751C>T c.(1750-1752)tCg>tTg p.S584L C6_ENST00000337836.5_Missense_Mutation_p.S584L NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 584 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.S584L(1) central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCGGGTTCTCGATCTCTTATA 0.498000 21 38 0 0 0.010504 0 0 MOGAT1 116255 broad.mit.edu 37 2 223554078 223554078 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:223554078C>T ENST00000446656.3 + 3 368 c.368C>T c.(367-369)tCt>tTt p.S123F NM_058165.2 NP_477513.2 Q96PD6 MOGT1_HUMAN monoacylglycerol O-acyltransferase 1 123 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1) 9 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105) GGGAATTTTTCTGTAAATTAT 0.408000 24 22 0 0 0.003954 0 0 MYF5 4617 broad.mit.edu 37 12 81111175 81111175 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:81111175G>A ENST00000228644.3 + 1 485 c.333G>A c.(331-333)acG>acA p.T111T NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 111 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 GGTGTACCACGACCAACCCCA 0.592000 14 37 0 0 0.002450 0 0 ECE1 1889 broad.mit.edu 37 1 21551882 21551882 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:21551882G>A ENST00000415912.2 - 17 1978 c.1853C>T c.(1852-1854)tCc>tTc p.S618F ECE1_ENST00000374893.6_Missense_Mutation_p.S634F|ECE1_ENST00000436918.2_Missense_Mutation_p.S634F|ECE1_ENST00000357071.4_Missense_Mutation_p.S622F|ECE1_ENST00000264205.6_Missense_Mutation_p.S631F NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 634 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GGCCTCCACGGATGAGTTCTT 0.627000 8 18 0 0 0.008291 0 0 FKBP15 23307 broad.mit.edu 37 9 115973809 115973809 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:115973809G>A ENST00000238256.3 - 2 234 c.117C>T c.(115-117)ttC>ttT p.F39F NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 39 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 CTGTGTACTGGAAAAATTCAT 0.453000 5 12 0 0 0.001168 0 0 RIMS2 9699 broad.mit.edu 37 8 105260996 105260996 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:105260996C>T ENST00000507740.1 + 19 3222 c.2986C>T c.(2986-2988)Cct>Tct p.P996S RIMS2_ENST00000406091.3_Missense_Mutation_p.P1182S|RIMS2_ENST00000262231.10_Missense_Mutation_p.P1021S|RIMS2_ENST00000339750.2_Missense_Mutation_p.P118S|RIMS2_ENST00000436393.2_Missense_Mutation_p.P1200S NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1244 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TGGCCTTGGCCCTGCTCAGCT 0.438000 HNSCC(12;0.0054) 15 44 0 0 0.004007 0 0 SMOX 54498 broad.mit.edu 37 20 4163123 4163123 + Missense_Mutation SNP T T G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:4163123T>G ENST00000305958.4 + 5 1222 c.997T>G c.(997-999)Tcg>Gcg p.S333A SMOX_ENST00000379460.2_Missense_Mutation_p.S333A|SMOX_ENST00000339123.6_Intron|SMOX_ENST00000346595.2_Intron|SMOX_ENST00000278795.3_Intron NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 333 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) TGTGACCGTGTCGCTAGGTGT 0.637000 17 34 0 0 0.007413 0 0 CYLC1 1538 broad.mit.edu 37 X 83129493 83129493 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:83129493G>A ENST00000329312.4 + 4 1814 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 593 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TGAAAAAGGGGAAAAAGCAAG 0.423000 12 2 0 0 0.000978 0 0 GDF5 8200 broad.mit.edu 37 20 34025183 34025183 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:34025183G>A ENST00000374372.1 - 3 1029 c.526C>T c.(526-528)Ctg>Ttg p.L176L GDF5_ENST00000374369.3_Silent_p.L176L P43026 GDF5_HUMAN growth differentiation factor 5 176 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) GTCCTGTACAGCGAGAGCATG 0.612000 32 54 0 0 0.002836 0 0 CEACAM6 4680 broad.mit.edu 37 19 42266031 42266031 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:42266031C>T ENST00000199764.6 + 4 1076 c.858C>T c.(856-858)atC>atT p.I286I AC011513.4_ENST00000601409.1_RNA NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 286 Ig-like C2-type 2. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) AGCTCTTTATCCCCAACATCA 0.488000 14 44 0 0 0.003163 0 0 ZNF609 23060 broad.mit.edu 37 15 64968228 64968228 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:64968228C>T ENST00000326648.3 + 4 3303 c.3175C>T c.(3175-3177)Ctg>Ttg p.L1059L NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1059 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCTGACAGACCTGGTGAAATC 0.562000 21 39 0 0 0.002299 0 0 ABCA6 23460 broad.mit.edu 37 17 67106984 67106984 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:67106984G>A ENST00000284425.2 - 17 2404 c.2230C>T c.(2230-2232)Ctt>Ttt p.L744F NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 744 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) GTATATACAAGCTTTTCTTTG 0.303000 4 19 0 0 0.009096 0 0 TCL6 27004 broad.mit.edu 37 14 96129863 96129863 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:96129863G>A ENST00000467865.1 + 0 271 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) tctttctgcagcccatgccac 0.547000 T TRA@ T-ALL 11 17 0 0 0.008291 0 0 CALN1 83698 broad.mit.edu 37 7 71571220 71571220 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:71571220C>T ENST00000395275.2 - 4 692 c.304G>A c.(304-306)Gag>Aag p.E102K CALN1_ENST00000329008.5_Missense_Mutation_p.E60K|CALN1_ENST00000431984.1_Missense_Mutation_p.E60K|CALN1_ENST00000395276.2_Missense_Mutation_p.E60K|CALN1_ENST00000412588.1_Missense_Mutation_p.E102K|CALN1_ENST00000405452.2_Missense_Mutation_p.E60K NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 60 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) ATGCCCAGCTCCTGCTTGGAG 0.562000 8 27 0 0 0.004482 0 0 MFSD2A 84879 broad.mit.edu 37 1 40422863 40422863 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:40422863C>T ENST00000372809.5 + 2 341 c.198C>T c.(196-198)ttC>ttT p.F66F MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Silent_p.F66F NM_001136493.1 NP_001129965.1 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 2A 66 transmembrane transport endoplasmic reticulum membrane|integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TGGGTTTCTTCCTTCAGATCT 0.527000 40 105 0 0 0.006999 0 0 PRRC2B 84726 broad.mit.edu 37 9 134321957 134321957 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:134321957C>T ENST00000357304.4 + 6 838 c.783C>T c.(781-783)gtC>gtT p.V261V PRRC2B_ENST00000405995.1_Silent_p.V261V|PRRC2B_ENST00000458550.1_Silent_p.V261V NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 261 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CTCAGCCTGTCCGAAAAGGGG 0.537000 10 14 0 0 0.006214 0 0 DACT1 51339 broad.mit.edu 37 14 59112095 59112095 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:59112095C>A ENST00000395153.3 + 4 790 c.643C>A c.(643-645)Ccc>Acc p.P215T DACT1_ENST00000395151.3_5'UTR|DACT1_ENST00000541264.2_5'UTR|DACT1_ENST00000555845.1_3'UTR|DACT1_ENST00000335867.4_Missense_Mutation_p.P252T|DACT1_ENST00000556859.1_5'UTR NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 252 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 AGATGTGAATCCCAAGTACCA 0.478000 30 38 9.78485e-24 1.01099e-23 0.002836 1 0 PRSS1 5644 broad.mit.edu 37 7 142460361 142460361 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142460361G>A ENST00000486171.1 + 5 593 c.576G>A c.(574-576)aaG>aaA p.K192K PRSS1_ENST00000311737.7_Silent_p.K178K P07477 TRY1_HUMAN protease, serine, 1 (trypsin 1) 178 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) ACCCTGGAAAGATTACCAGCA 0.542000 42 116 0 0 0.008740 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45895344 45895344 + Missense_Mutation SNP G G A rs141349857 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:45895344G>A ENST00000418234.2 - 8 1687 c.1609C>T c.(1609-1611)Cct>Tct p.P537S PPP1R13L_ENST00000360957.5_Missense_Mutation_p.P537S NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 537 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) TTGTGGGTAGGGGGCAGGGCC 0.682000 25 43 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9005617 9005617 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9005617G>A ENST00000397910.4 - 46 39992 c.39789C>T c.(39787-39789)acC>acT p.T13263T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13265 SEA 8. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGATGCTGTGGGTCAGCTGGC 0.562000 34 84 0 0 0.003755 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202658 140202658 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140202658C>T ENST00000529859.1 + 1 1298 c.1298C>T c.(1297-1299)tCg>tTg p.S433L PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.S433L|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.S433L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.637000 36 90 0 0 0.005524 0 0 FDXR 2232 broad.mit.edu 37 17 72862359 72862359 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72862359C>T ENST00000455107.2 - 6 685 c.269G>A c.(268-270)gGg>gAg p.G90E FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000582944.1_Missense_Mutation_p.G126E|FDXR_ENST00000442102.2_Missense_Mutation_p.G177E|FDXR_ENST00000420580.2_Missense_Mutation_p.G94E|FDXR_ENST00000581530.1_Missense_Mutation_p.G134E|FDXR_ENST00000583917.1_Missense_Mutation_p.G135E|FDXR_ENST00000413947.2_Missense_Mutation_p.G165E|FDXR_ENST00000293195.5_Missense_Mutation_p.G134E|FDXR_ENST00000544854.1_Missense_Mutation_p.G82E P22570 ADRO_HUMAN ferredoxin reductase 134 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) GTCCTCTGCCCCGTAGCTCTG 0.657000 17 29 0 0 0.004007 0 0 IL13RA1 3597 broad.mit.edu 37 X 117895132 117895132 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:117895132C>T ENST00000371666.3 + 6 775 c.708C>T c.(706-708)ctC>ctT p.L236L IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Silent_p.L236L NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 236 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 TTAAAAACCTCTCCTTCCACA 0.373000 34 17 0 0 0.003755 0 0 ATP13A5 344905 broad.mit.edu 37 3 193029616 193029616 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:193029616A>G ENST00000342358.4 - 20 2551 c.2434T>C c.(2434-2436)Ttg>Ctg p.L812L ATP13A5-AS1_ENST00000414634.1_RNA|ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 812 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) TTTGGAAGCAAGCTGTTGAAA 0.423000 15 17 0 0 0.004990 0 0 TRAV3 28690 broad.mit.edu 37 14 22192421 22192421 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:22192421C>T ENST00000390425.2 + 0 372 CCTCCAGTTCCTTCTGAAATA 0.448000 15 40 0 0 0.003163 0 0 WDR96 80217 broad.mit.edu 37 10 105974173 105974173 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:105974173G>A ENST00000357060.3 - 4 543 c.428C>T c.(427-429)tCg>tTg p.S143L WDR96_ENST00000369719.1_Missense_Mutation_p.S73L|WDR96_ENST00000428666.1_Missense_Mutation_p.S143L|WDR96_ENST00000278064.2_Missense_Mutation_p.S73L|WDR96_ENST00000369720.1_Missense_Mutation_p.S73L NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 143 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 AATGATACTCGATTCCCAGTT 0.328000 6 12 0 0 0.001984 0 0 CCDC108 255101 broad.mit.edu 37 2 219870227 219870227 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:219870227G>A ENST00000341552.5 - 32 5063 c.4980C>T c.(4978-4980)tcC>tcT p.S1660S CCDC108_ENST00000441968.1_Silent_p.S1660S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Silent_p.S1660S NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 1660 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTTGTTAGGGGATTTTTCCT 0.552000 14 49 0 0 0.001855 0 0 STXBP5L 9515 broad.mit.edu 37 3 120924817 120924817 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:120924817C>T ENST00000273666.6 + 10 1196 c.925C>T c.(925-927)Ctt>Ttt p.L309F STXBP5L_ENST00000497029.1_Missense_Mutation_p.L309F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L309F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L309F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L309F NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 309 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TAAACCAATTCTTAAAGTAGA 0.284000 10 22 0 0 0.001855 0 0 RPS3 6188 broad.mit.edu 37 11 75115202 75115202 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:75115202T>C ENST00000531188.1 + 5 551 c.489T>C c.(487-489)ccT>ccC p.P163P RPS3_ENST00000278572.6_Silent_p.P179P|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000527446.1_Silent_p.P163P|RPS3_ENST00000526608.1_Silent_p.P151P|RPS3_ENST00000524851.1_Silent_p.P163P NM_001005.4|NM_001260506.1|NM_001260507.1 NP_000996.2|NP_001247435.1|NP_001247436.1 P23396 RS3_HUMAN ribosomal protein S3 163 activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus|ruffle membrane damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(2) 6 GCGGAGACCCTGTTAACTACT 0.537000 22 26 0 0 0.002299 0 0 RNF17 56163 broad.mit.edu 37 13 25416274 25416274 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:25416274G>A ENST00000255324.5 + 19 2630 c.2578G>A c.(2578-2580)Gag>Aag p.E860K RNF17_ENST00000381921.1_Missense_Mutation_p.E860K NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 860 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) GCTAGTTAAAGAGGGCCTAGC 0.358000 20 28 0 0 0.002299 0 0 BCMO1 53630 broad.mit.edu 37 16 81303970 81303970 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:81303970C>T ENST00000258168.2 + 7 1511 c.1050C>T c.(1048-1050)ctC>ctT p.L350L BCMO1_ENST00000425577.2_Silent_p.L281L NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 350 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 ACTCCAGGCTCACCTCGGTCC 0.562000 18 27 0 0 0.008871 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6311589 6311589 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:6311589C>T ENST00000400104.3 - 3 236 c.36G>A c.(34-36)atG>atA p.M12I L3MBTL4_ENST00000284898.6_Missense_Mutation_p.M12I|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.M12I|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.M12I Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 12 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTTTGGAATCCATATTAAGCT 0.488000 40 139 0 0 0.007835 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748111 41748111 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:41748111G>A ENST00000226382.2 - 3 1017 c.658C>T c.(658-660)Ccg>Tcg p.P220S NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 220 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.G216fs*88(1) autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 gctccagccgggctgggcccg 0.816000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 10 24 0 0 0.006214 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175498 140175498 + Missense_Mutation SNP G G A rs17844246 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140175498G>A ENST00000526136.1 + 1 949 c.949G>A c.(949-951)Gag>Aag p.E317K PCDHA2_ENST00000520672.2_Missense_Mutation_p.E317K|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.E317K|PCDHA1_ENST00000504120.2_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAAGTCCTACGAGATTCAGGT 0.388000 8 20 0 0 0.004482 0 0 ALS2 57679 broad.mit.edu 37 2 202593243 202593243 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:202593243G>A ENST00000264276.6 - 15 3205 c.2833C>T c.(2833-2835)Cat>Tat p.H945Y ALS2_ENST00000457679.2_Missense_Mutation_p.H257Y NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 945 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 ACCTGGGCATGGACCAGGGCA 0.463000 32 58 0 0 0.004289 0 0 S100A9 6280 broad.mit.edu 37 1 153330852 153330852 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153330852C>T ENST00000368738.3 + 2 136 c.93C>T c.(91-93)acC>acT p.T31T NM_002965.3 NP_002956.1 P06702 S10A9_HUMAN S100 calcium binding protein A9 31 EF-hand 1. cell-cell signaling cytoplasm|cytoskeleton|nucleus|plasma membrane calcium ion binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(2) 4 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) ACCCAGACACCCTGAACCAGG 0.522000 9 17 0 0 0.006214 0 0 ADAM29 11086 broad.mit.edu 37 4 175897249 175897249 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:175897249G>A ENST00000359240.3 + 5 1243 c.573G>A c.(571-573)gtG>gtA p.V191V ADAM29_ENST00000404450.4_Silent_p.V191V|ADAM29_ENST00000514159.1_Silent_p.V191V|ADAM29_ENST00000445694.1_Silent_p.V191V NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 191 proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTTCTTATGTGGGCTGGTGGA 0.358000 15 27 0 0 0.003163 0 0 CA10 56934 broad.mit.edu 37 17 49825153 49825153 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:49825153C>T ENST00000451037.2 - 4 1245 c.305G>A c.(304-306)gGa>gAa p.G102E CA10_ENST00000285273.4_Missense_Mutation_p.G102E|CA10_ENST00000570565.1_Missense_Mutation_p.G27E|CA10_ENST00000340813.6_Missense_Mutation_p.G108E|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.G102E NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 102 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TACGTGTCTTCCAGTGTTGTA 0.542000 14 50 0 0 0.004990 0 0 AP3B2 8120 broad.mit.edu 37 15 83350185 83350185 + Missense_Mutation SNP G G T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:83350185G>T ENST00000261722.3 - 5 715 c.508C>A c.(508-510)Cct>Act p.P170T RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535359.1_Missense_Mutation_p.P170T|AP3B2_ENST00000535348.1_Missense_Mutation_p.P138T NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 170 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) TAGAGTTTAGGGATGGCGTGG 0.572000 4 41 0.00024832 0.000253537 0.009096 1 0 MTX1 4580 broad.mit.edu 37 1 155182223 155182223 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:155182223G>A ENST00000368376.3 + 5 925 c.819G>A c.(817-819)cgG>cgA p.R273R MTX1_ENST00000481771.1_3'UTR|RP11-263K19.6_ENST00000455788.1_RNA|MTX1_ENST00000316721.4_Silent_p.R242R NM_002455.3 NP_002446.2 Q13505 MTX1_HUMAN metaxin 1 273 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane protein binding breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 7 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) AAGTGACCCGGAAGTGGTATG 0.552000 9 53 0 0 0.000978 0 0 CDH18 1016 broad.mit.edu 37 5 19483617 19483617 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:19483617T>C ENST00000507958.1 - 14 2665 c.1675A>G c.(1675-1677)Act>Gct p.T559A CDH18_ENST00000274170.4_Missense_Mutation_p.T559A|CDH18_ENST00000502796.1_Intron|CDH18_ENST00000506372.1_Intron|CDH18_ENST00000382275.1_Missense_Mutation_p.T559A Q13634 CAD18_HUMAN cadherin 18, type 2 559 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) TCCTGAACAGTTCGACTAAAT 0.458000 5 12 0 0 0.000602 0 0 NLRC5 84166 broad.mit.edu 37 16 57060009 57060009 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:57060009C>T ENST00000436936.1 + 6 1379 c.1154C>T c.(1153-1155)tCg>tTg p.S385L NLRC5_ENST00000539144.1_Missense_Mutation_p.S385L|NLRC5_ENST00000308149.7_Missense_Mutation_p.S385L|NLRC5_ENST00000262510.6_Missense_Mutation_p.S385L Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 385 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GCCCAGCCATCGCGGGAGGGG 0.612000 35 103 0 0 0.005524 0 0 ASXL2 55252 broad.mit.edu 37 2 25972779 25972779 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:25972779G>A ENST00000435504.4 - 12 1939 c.1646C>T c.(1645-1647)aCt>aTt p.T549I ASXL2_ENST00000336112.4_Missense_Mutation_p.T521I|ASXL2_ENST00000404843.1_Missense_Mutation_p.T289I|ASXL2_ENST00000272341.4_Missense_Mutation_p.T289I Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 549 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCATATTAGTCTCCTGTGG 0.502000 21 55 0 0 0.010504 0 0 OR8B8 26493 broad.mit.edu 37 11 124310337 124310337 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:124310337G>A ENST00000328064.2 - 1 717 c.645C>T c.(643-645)ttC>ttT p.F215F NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) CATAGGAAATGAAGATGGTGA 0.483000 20 58 0 0 0.001882 0 0 MUC16 94025 broad.mit.edu 37 19 9061224 9061224 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9061224G>A ENST00000397910.4 - 3 26425 c.26222C>T c.(26221-26223)tCc>tTc p.S8741F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8743 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCTGTTCTGGAGACCTTAGT 0.483000 9 26 0 0 0.006214 0 0 NOP58 51602 broad.mit.edu 37 2 203149091 203149091 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:203149091C>T ENST00000264279.5 + 5 547 c.321C>T c.(319-321)atC>atT p.I107I NOP58_ENST00000467734.1_3'UTR NM_015934.3 NP_057018.1 Q9Y2X3 NOP58_HUMAN NOP58 ribonucleoprotein 107 cell growth|rRNA processing|snRNP protein import into nucleus box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex protein binding|snoRNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2) 16 TCAGTTGTATCCATAGTCCTG 0.338000 7 10 0 0 0.001984 0 0 SLC39A8 64116 broad.mit.edu 37 4 103189132 103189132 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:103189132A>G ENST00000424970.2 - 7 1260 c.945T>C c.(943-945)aaT>aaC p.N315N SLC39A8_ENST00000394833.2_Silent_p.N315N|SLC39A8_ENST00000356736.4_Silent_p.N315N NM_001135147.1 NP_001128619.1 Q9C0K1 S39A8_HUMAN solute carrier family 39 (zinc transporter), member 8 315 integral to membrane|organelle membrane|plasma membrane zinc ion transmembrane transporter activity large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Hepatocellular(203;0.217) all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142) CATCGATGAAATTGTGGAGGG 0.502000 19 55 0 0 0.007413 0 0 NLRP7 199713 broad.mit.edu 37 19 55449500 55449500 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55449500C>T ENST00000588756.1 - 7 2527 c.2041G>A c.(2041-2043)Gaa>Aaa p.E681K NLRP7_ENST00000448121.2_Missense_Mutation_p.E653K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E681K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E653K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E681K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E709K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E681K Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 681 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGTTTCACTTCCAGAAACTTG 0.498000 39 90 0 0 0.006999 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12853576 12853576 + Missense_Mutation SNP G G A rs1063759 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12853576G>A ENST00000332296.7 + 2 303 c.200G>A c.(199-201)gGa>gAa p.G67E NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 67 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCTCTGGGATCACTGATG 0.542000 38 89 0 0 0.002852 0 0 C2orf71 388939 broad.mit.edu 37 2 29295755 29295755 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:29295755G>A ENST00000331664.5 - 1 1372 c.1373C>T c.(1372-1374)tCc>tTc p.S458F NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 458 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 AATCCCAAAGGAATCACATGG 0.557000 17 48 0 0 0.006122 0 0 CAV3 859 broad.mit.edu 37 3 8787421 8787421 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:8787421G>A ENST00000343849.2 + 2 401 c.324G>A c.(322-324)aaG>aaA p.K108K CAV3_ENST00000397368.2_Silent_p.K108K|CAV3_ENST00000472766.1_Intron NM_001234.4|NM_033337.2 NP_001225.1|NP_203123.1 P56539 CAV3_HUMAN caveolin 3 108 Required for interaction with DAG1. cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1) 11 CATGCATTAAGAGCTACCTGA 0.607000 10 22 0 0 0.006214 0 0 XKR4 114786 broad.mit.edu 37 8 56435931 56435931 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:56435931C>T ENST00000327381.5 + 3 1198 c.1098C>T c.(1096-1098)ccC>ccT p.P366P NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 366 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) ACAAGAAGCCCATCAGCTACA 0.587000 12 34 0 0 0.002450 0 0 RIMKLA 284716 broad.mit.edu 37 1 42880252 42880252 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:42880252C>T ENST00000431473.3 + 5 912 c.783C>T c.(781-783)ctC>ctT p.L261L NM_173642.3 NP_775913.2 Q8IXN7 RIMKA_HUMAN ribosomal modification protein rimK-like family member A 261 ATP-grasp. protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 GCATTGATCTCCTTATCATGG 0.517000 63 146 0 0 0.003610 0 0 KCNK1 3775 broad.mit.edu 37 1 233807093 233807093 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:233807093C>T ENST00000366621.3 + 3 996 c.828C>T c.(826-828)ttC>ttT p.F276F KCNK1_ENST00000366620.1_Silent_p.F160F|KCNK1_ENST00000472190.1_3'UTR NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 276 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) TGAAAAAATTCAGAAAAATGT 0.463000 14 23 0 0 0.002450 0 0 PDE3A 5139 broad.mit.edu 37 12 20832983 20832983 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:20832983G>A ENST00000359062.3 + 16 3244 c.3204G>A c.(3202-3204)agG>agA p.R1068R PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1068 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTTTCAAAAGGAGAAAAATCT 0.358000 7 21 0 0 0.001984 0 0 KLRB1 3820 broad.mit.edu 37 12 9760381 9760381 + Missense_Mutation SNP C C T rs144231382 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:9760381C>T ENST00000229402.3 - 1 101 c.55G>A c.(55-57)Gaa>Aaa p.E19K NM_002258.2 NP_002249.1 Q12918 KLRB1_HUMAN killer cell lectin-like receptor subfamily B, member 1 19 cell surface receptor linked signaling pathway integral to membrane|plasma membrane sugar binding|transmembrane receptor activity endometrium(2)|large_intestine(6)|lung(4) 12 GAAGAACTTTCTGGGCCTGAG 0.413000 19 45 0 0 0.001882 0 0 PTPRB 5787 broad.mit.edu 37 12 71029530 71029530 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:71029530C>T ENST00000334414.6 - 2 416 c.372G>A c.(370-372)agG>agA p.R124R PTPRB_ENST00000551525.1_Silent_p.R123R|PTPRB_ENST00000550358.1_Silent_p.R124R|PTPRB_ENST00000538174.2_5'UTR NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) GGAGGTATTTCCTGGCCTTCT 0.463000 9 30 0 0 0.008291 0 0 COL13A1 1305 broad.mit.edu 37 10 71655329 71655329 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:71655329C>T ENST00000356340.3 + 11 1190 c.654C>T c.(652-654)caC>caT p.H218H COL13A1_ENST00000398966.3_Silent_p.H218H|COL13A1_ENST00000398968.3_Silent_p.H218H|COL13A1_ENST00000354547.3_Silent_p.H218H|COL13A1_ENST00000398971.3_Silent_p.H218H|COL13A1_ENST00000398978.3_Silent_p.H218H|COL13A1_ENST00000398972.3_Silent_p.H218H|COL13A1_ENST00000520133.1_Silent_p.H189H|COL13A1_ENST00000398973.3_Silent_p.H218H|COL13A1_ENST00000520267.1_Silent_p.H180H|COL13A1_ENST00000522165.1_Silent_p.H218H|COL13A1_ENST00000398969.3_Silent_p.H180H|COL13A1_ENST00000357811.3_Silent_p.H218H|COL13A1_ENST00000517713.1_Silent_p.H218H|COL13A1_ENST00000398974.3_Silent_p.H206H|COL13A1_ENST00000398964.3_Silent_p.H189H Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 218 Nonhelical region 2 (NC2). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) AGTACCCACACCGGGTAAGTG 0.572000 15 34 0 0 0.004007 0 0 NLRP9 338321 broad.mit.edu 37 19 56243537 56243537 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:56243537C>T ENST00000332836.2 - 2 1687 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 554 cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AATTCTTTTTCCTGAGTTTCA 0.348000 10 18 0 0 0.001368 0 0 L1TD1 54596 broad.mit.edu 37 1 62672651 62672651 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:62672651G>A ENST00000498273.1 + 3 646 c.351G>A c.(349-351)ggG>ggA p.G117G NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 117 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 35 ggatggtagggaaaatagaag 0.328000 16 66 0 0 0.008871 0 0 CCL8 6355 broad.mit.edu 37 17 32647872 32647872 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:32647872G>A ENST00000394620.1 + 3 712 c.246G>A c.(244-246)tgG>tgA p.W82* NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 82 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) AGGAGAGATGGGTCAGGGATT 0.478000 6 25 0 0 0.003080 0 0 KDR 3791 broad.mit.edu 37 4 55968074 55968074 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:55968074G>A ENST00000263923.4 - 15 2551 c.2256C>T c.(2254-2256)ttC>ttT p.F752F NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 752 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CTTCTATTATGAAAAATGCCT 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 20 43 0 0 0.010504 0 0 COL6A6 131873 broad.mit.edu 37 3 130311941 130311941 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:130311941G>A ENST00000358511.6 + 15 4439 c.4408G>A c.(4408-4410)Gga>Aga p.G1470R COL6A6_ENST00000453409.2_Missense_Mutation_p.G1470R NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1470 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CGGATTAAACGGAGAACAGGT 0.378000 48 128 0 0 0.003610 0 0 TRAV14DV4 28669 broad.mit.edu 37 14 22392675 22392675 + RNA SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:22392675T>C ENST00000390440.2 + 0 273 GGGAAATGATTTTTCTTATTT 0.443000 26 58 0 0 0.002445 0 0 ST18 9705 broad.mit.edu 37 8 53044558 53044558 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:53044558C>T ENST00000276480.7 - 22 3309 c.2626G>A c.(2626-2628)Ggg>Agg p.G876R NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 876 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGCCCAGCCCATTGCAGCCT 0.493000 11 43 0 0 0.001855 0 0 MCTP1 79772 broad.mit.edu 37 5 94134766 94134766 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:94134766C>T ENST00000515393.1 - 18 2507 c.2508G>A c.(2506-2508)tgG>tgA p.W836* MCTP1_ENST00000505078.1_Nonsense_Mutation_p.W352*|MCTP1_ENST00000429576.2_Intron|MCTP1_ENST00000312216.8_Nonsense_Mutation_p.W615* NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 836 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AGAAGTAGTTCCATGTCAATA 0.388000 6 19 0 0 0.001168 0 0 INPP5D 3635 broad.mit.edu 37 2 234106748 234106748 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:234106748C>T ENST00000359570.5 + 27 2665 c.2665C>T c.(2665-2667)Ccg>Tcg p.P889S INPP5D_ENST00000450745.1_Missense_Mutation_p.P653S|INPP5D_ENST00000455936.2_Missense_Mutation_p.P653S Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 901 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CAGGGCCCCTCCGTGCAGTGG 0.597000 4 13 0 0 0.009096 0 0 ZNF398 57541 broad.mit.edu 37 7 148863293 148863293 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:148863293C>T ENST00000475153.1 + 3 731 c.464C>T c.(463-465)cCa>cTa p.P155L ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.P160L Q8TD17 ZN398_HUMAN zinc finger protein 398 155 KRAB. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1) 25 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00143) TTTTCCACTCCAGAGTGGGAA 0.398000 14 45 0 0 0.002450 0 0 OR4C46 119749 broad.mit.edu 37 11 51515764 51515764 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:51515764C>T ENST00000328188.1 + 1 483 c.483C>T c.(481-483)atC>atT p.I161I NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 TCCTCTTCATCTTCCAATTAC 0.463000 27 46 0 0 0.005443 0 0 SCN1A 6323 broad.mit.edu 37 2 166904164 166904164 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166904164C>T ENST00000423058.2 - 8 1160 c.1143G>A c.(1141-1143)caG>caA p.Q381Q SCN1A_ENST00000375405.3_Silent_p.Q381Q|SCN1A_ENST00000303395.4_Silent_p.Q381Q|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.Q381Q NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 381 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CCCAGAAGTCCTGAGTCATTA 0.358000 17 52 0 0 0.004007 0 0 CLCN4 1183 broad.mit.edu 37 X 10176399 10176399 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:10176399C>T ENST00000380833.4 + 9 1549 c.1158C>T c.(1156-1158)ccC>ccT p.P386P CLCN4_ENST00000421085.2_Silent_p.P292P|CLCN4_ENST00000380829.1_Silent_p.P355P NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 386 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TTGCCTACCCCAATCCCTACA 0.567000 50 20 0 0 0.003610 0 0 LAMC1 3915 broad.mit.edu 37 1 183083788 183083788 + Missense_Mutation SNP T T G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:183083788T>G ENST00000258341.4 + 5 1401 c.1144T>G c.(1144-1146)Tgc>Ggc p.C382G NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 382 Laminin EGF-like 2. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGTGAGAGGTGCCGAGAGAA 0.522000 33 55 0 0 0.009535 0 0 SSPO 23145 broad.mit.edu 37 7 149497078 149497078 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:149497078C>T ENST00000378016.2 + 0 7118 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCTGTGACTCCAGCGACCCCT 0.617000 10 34 0 0 0.000978 0 0 MYT1L 23040 broad.mit.edu 37 2 1926949 1926949 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:1926949C>T ENST00000399161.2 - 10 1339 c.592G>A c.(592-594)Gat>Aat p.D198N MYT1L_ENST00000428368.2_Missense_Mutation_p.D198N NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 198 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) ACCAGTTCATCGTAATTGTCA 0.408000 11 10 0 0 0.000978 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430968 37430968 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:37430968G>A ENST00000374660.1 + 7 1074 c.975G>A c.(973-975)agG>agA p.R325R ANKRD30A_ENST00000602533.1_Silent_p.R325R|ANKRD30A_ENST00000361713.1_Silent_p.R325R Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 381 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAAGACCTAGGAAGATCGCAT 0.428000 26 42 0 0 0.004656 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411082 32411082 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:32411082G>A ENST00000395388.2 + 3 558 c.449G>A c.(448-450)gGa>gAa p.G150E HLA-DRA_ENST00000374982.5_Missense_Mutation_p.G125E NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 150 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 CTTCGAAATGGAAAACCTGTC 0.527000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 38 42 0 0 0.004878 0 0 NPC1L1 29881 broad.mit.edu 37 7 44560379 44560379 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:44560379C>T ENST00000289547.4 - 14 3176 c.3121G>A c.(3121-3123)Gat>Aat p.D1041N NPC1L1_ENST00000381160.3_Missense_Mutation_p.D1041N|NPC1L1_ENST00000546276.1_Missense_Mutation_p.D995N NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1041 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) ACCTGGCCATCTGAAGTCAAG 0.567000 20 39 0 0 0.010504 0 0 UGT2B4 7363 broad.mit.edu 37 4 70361566 70361566 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:70361566C>T ENST00000305107.6 - 1 60 c.14G>A c.(13-15)tGg>tAg p.W5* UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Nonsense_Mutation_p.W5* NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 5 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 AGCTGAAGTCCATTTCATAGA 0.448000 19 63 0 0 0.008871 0 0 SALL1 6299 broad.mit.edu 37 16 51175809 51175809 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:51175809C>T ENST00000440970.1 - 2 464 c.33G>A c.(31-33)gtG>gtA p.V11V SALL1_ENST00000251020.4_Silent_p.V108V|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 108 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGCTGCAGTCCACTTGATCTG 0.532000 29 65 0 0 0.002445 0 0 PTPRF 5792 broad.mit.edu 37 1 44085233 44085233 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:44085233C>T ENST00000359947.4 + 28 5261 c.4921C>T c.(4921-4923)Ctc>Ttc p.L1641F PTPRF_ENST00000372414.3_Missense_Mutation_p.L1641F|PTPRF_ENST00000372413.3_Missense_Mutation_p.L1632F|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.L1000F|PTPRF_ENST00000438120.1_Missense_Mutation_p.L1632F NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1641 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CGCCATGGAGCTCGAGTTCAA 0.652000 18 35 0 0 0.002780 0 0 CARD6 84674 broad.mit.edu 37 5 40853623 40853623 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:40853623A>T ENST00000254691.5 + 3 2388 c.2189A>T c.(2188-2190)aAc>aTc p.N730I CARD6_ENST00000381677.3_Intron NM_032587.3 NP_115976.2 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 730 apoptosis|regulation of apoptosis intracellular NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 62 GTTCTAGAGAACTCCTGGCTC 0.502000 46 157 0 0 0.003610 0 0 STAB2 55576 broad.mit.edu 37 12 104155081 104155081 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:104155081G>A ENST00000388887.2 + 66 7456 c.7252G>A c.(7252-7254)Gag>Aag p.E2418K RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2418 FAS1 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCCCTAGACGGAGACCAGGTT 0.517000 20 50 0 0 0.002780 0 0 CACNG5 27091 broad.mit.edu 37 17 64875095 64875095 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:64875095G>A ENST00000533854.1 + 3 439 c.202G>A c.(202-204)Gag>Aag p.E68K CACNG5_ENST00000169565.3_Missense_Mutation_p.E68K|CACNG5_ENST00000307139.3_Missense_Mutation_p.E68K Q9UF02 CCG5_HUMAN calcium channel, voltage-dependent, gamma subunit 5 68 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane voltage-gated calcium channel activity NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(6;1.61e-08) CACAGGTGAGGAGCGGGGGCG 0.468000 20 50 0 0 0.002299 0 0 DMD 1756 broad.mit.edu 37 X 32632560 32632560 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:32632560C>T ENST00000357033.4 - 12 1548 c.1342G>A c.(1342-1344)Gtt>Att p.V448I DMD_ENST00000288447.4_Missense_Mutation_p.V440I|DMD_ENST00000378677.2_Missense_Mutation_p.V444I NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 448 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCCATTAAAACTCTATGTAAA 0.323000 5 3 0 0 0.000602 0 0 NT5C1B 93034 broad.mit.edu 37 2 18765998 18765998 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:18765998C>T ENST00000304081.4 - 4 605 c.505G>A c.(505-507)Gac>Aac p.D169N NT5C1B_ENST00000359846.2_Missense_Mutation_p.D229N|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D229N|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D229N NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGCTGCGAGTCCCGGGTCTGG 0.677000 10 22 0 0 0.001368 0 0 BRINP3 339479 broad.mit.edu 37 1 190234050 190234050 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:190234050C>T ENST00000367462.3 - 4 794 c.563G>A c.(562-564)aGg>aAg p.R188K FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.R86K|RP11-547I7.1_ENST00000452178.1_RNA NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 188 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGTGCTGTCCCTGTCAATGAA 0.443000 11 41 0 0 0.000978 0 0 TIGD5 84948 broad.mit.edu 37 8 144680469 144680469 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:144680469C>T ENST00000504548.2 + 1 396 c.396C>T c.(394-396)ttC>ttT p.F132F TIGD5_ENST00000321385.3_Silent_p.F83F NM_032862.4 NP_116251.4 E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 132 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) ACGCCTGGTTCCTGGCGCTGC 0.697000 4 12 0 0 0.000602 0 0 BCL11B 64919 broad.mit.edu 37 14 99640494 99640494 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:99640494C>T ENST00000345514.2 - 3 2732 c.2466G>A c.(2464-2466)agG>agA p.R822R BCL11B_ENST00000357195.3_Silent_p.R893R|BCL11B_ENST00000443726.2_Silent_p.R699R NM_022898.1 NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 893 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) gcgcTTAGCTCCTCTCGGCCT 0.612000 T TLX3 T-ALL 7 19 0 0 0.003080 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142197670 142197670 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:142197670G>A ENST00000471935.1 - 0 307 GCAGAAAATCGATCCTTAGGC 0.498000 15 53 0 0 0.003163 0 0 TERT 7015 broad.mit.edu 37 5 1260659 1260659 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:1260659C>T ENST00000310581.5 - 12 2957 c.2900G>A c.(2899-2901)gGg>gAg p.G967E TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Missense_Mutation_p.G904E NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 967 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CATGTTCCTCCCAGCCTTGAA 0.577000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 16 32 0 0 0.004990 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107034960 107034960 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:107034960G>A ENST00000390626.2 - 0 178 AACCCTTACAGGAGATCTTCA 0.562000 6 10 0 0 0.001168 0 0 TRERF1 55809 broad.mit.edu 37 6 42236163 42236163 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:42236163G>A ENST00000541110.1 - 5 1734 c.1166C>T c.(1165-1167)cCc>cTc p.P389L TRERF1_ENST00000340840.2_Missense_Mutation_p.P389L|TRERF1_ENST00000372917.4_Missense_Mutation_p.P389L|TRERF1_ENST00000372922.4_Missense_Mutation_p.P389L|TRERF1_ENST00000354325.2_Missense_Mutation_p.P389L Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 389 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTGGTAGAGGGGGTGGCTGTA 0.612000 35 118 0 0 0.003755 0 0 HYDIN 54768 broad.mit.edu 37 16 71098709 71098709 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:71098709C>T ENST00000393567.2 - 16 2260 c.2110G>A c.(2110-2112)Gag>Aag p.E704K HYDIN_ENST00000538248.1_Missense_Mutation_p.E731K|HYDIN_ENST00000321489.5_Missense_Mutation_p.E704K|HYDIN_ENST00000541601.1_Missense_Mutation_p.E721K|HYDIN_ENST00000448089.2_Missense_Mutation_p.E704K|HYDIN_ENST00000448691.1_Missense_Mutation_p.E704K NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 704 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AAGTCCACCTCTGTATTGACC 0.502000 28 32 0 0 0.007291 0 0 C1orf173 127254 broad.mit.edu 37 1 75065500 75065500 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:75065500T>A ENST00000326665.5 - 11 1823 c.1605A>T c.(1603-1605)aaA>aaT p.K535N C1orf173_ENST00000420661.2_Missense_Mutation_p.K338N|RP4-612J11.1_ENST00000416017.1_RNA NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 535 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CTAAATTATCTTTTTTATCAT 0.403000 23 69 0 0 0.003330 0 0 HM13 81502 broad.mit.edu 37 20 30142557 30142557 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:30142557C>T ENST00000335574.5 + 8 857 c.733C>T c.(733-735)Ccc>Tcc p.P245S HM13_ENST00000398174.3_Missense_Mutation_p.P245S|HM13_ENST00000340852.5_Missense_Mutation_p.P245S|HM13_ENST00000376127.3_Missense_Mutation_p.P203S|HM13_ENST00000492709.1_3'UTR NM_178580.1 NP_848695.1 Q8TCT9 HM13_HUMAN histocompatibility (minor) 13 245 membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) AGTGGTGTTTCCCCAGGATCT 0.532000 15 33 0 0 0.004007 0 0 CEACAM5 1048 broad.mit.edu 37 19 42221515 42221515 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:42221515C>T ENST00000221992.6 + 5 1214 c.1100C>T c.(1099-1101)cCc>cTc p.P367L CEACAM5_ENST00000398599.4_Missense_Mutation_p.P366L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.P367L|CEA_ENST00000598976.1_Intron NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 367 Ig-like 4. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCGGTCAGTCCCAGGCTGCAG 0.498000 39 88 0 0 0.002852 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140795001 140795001 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140795001C>T ENST00000398610.2 + 1 2259 c.2259C>T c.(2257-2259)ttC>ttT p.F753F PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCGGGCTTTCCTGCAGACCT 0.627000 13 39 0 0 0.001855 0 0 ZC3H6 376940 broad.mit.edu 37 2 113089501 113089501 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:113089501C>T ENST00000409871.1 + 12 3407 c.3006C>T c.(3004-3006)aaC>aaT p.N1002N ZC3H6_ENST00000343936.4_Silent_p.N1002N NM_198581.2 NP_940983.2 P61129 ZC3H6_HUMAN zinc finger CCCH-type containing 6 1002 nucleic acid binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2) 35 CCAGATCAAACCCTGGTTCAT 0.522000 8 16 0 0 0.004482 0 0 NXPH3 11248 broad.mit.edu 37 17 47656122 47656122 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:47656122G>A ENST00000328741.5 + 2 581 c.219G>A c.(217-219)ggG>ggA p.G73G NXPH3_ENST00000513748.1_Silent_p.G73G NM_007225.2 NP_009156.2 O95157 NXPH3_HUMAN neurexophilin 3 73 II. neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CCCCGCCTGGGGAGGCTTGGG 0.672000 32 47 0 0 0.006230 0 0 ARFIP2 23647 broad.mit.edu 37 11 6500164 6500164 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6500164C>T ENST00000254584.2 - 5 424 c.341G>A c.(340-342)cGa>cAa p.R114Q ARFIP2_ENST00000525235.1_Missense_Mutation_p.R114Q|ARFIP2_ENST00000423813.2_Missense_Mutation_p.R76Q|ARFIP2_ENST00000445086.2_Missense_Mutation_p.R29Q|ARFIP2_ENST00000396777.3_Missense_Mutation_p.R114Q NM_012402.3 NP_036534.1 P53365 ARFP2_HUMAN ADP-ribosylation factor interacting protein 2 114 actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction cell cortex|plasma membrane|ruffle GTP binding|GTP-dependent protein binding|Rac GTPase binding endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2) 15 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCGACCAAATCGTTCTGATAA 0.537000 6 16 0 0 0.001984 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153270515 153270515 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153270515C>T ENST00000290722.1 - 7 995 c.943G>A c.(943-945)Ggc>Agc p.G315S NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 315 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCACTGTGGCCCATCAGCAGG 0.577000 53 164 0 0 0.003610 0 0 VPS13B 157680 broad.mit.edu 37 8 100847491 100847491 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:100847491T>C ENST00000358544.2 + 53 9867 c.9756T>C c.(9754-9756)agT>agC p.S3252S VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.S3227S NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3252 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AAGACCCTAGTCCTCGAGTAA 0.343000 7 21 0 0 0.003080 0 0 DSG3 1830 broad.mit.edu 37 18 29036436 29036436 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:29036436G>A ENST00000257189.4 + 2 165 c.82G>A c.(82-84)Gag>Aag p.E28K NM_001944.2 NP_001935.2 P32926 DSG3_HUMAN desmoglein 3 28 cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) ATTGCGAATAGAGGTAAAGTA 0.229000 6 24 0 0 0.001168 0 0 LTBP1 4052 broad.mit.edu 37 2 33525604 33525604 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:33525604G>A ENST00000404816.2 + 21 3675 c.3322G>A c.(3322-3324)Ggg>Agg p.G1108R LTBP1_ENST00000407925.1_Missense_Mutation_p.G782R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G782R|LTBP1_ENST00000390003.4_Missense_Mutation_p.G783R|LTBP1_ENST00000272273.5_Missense_Mutation_p.G48R|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1109R|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000402934.1_Missense_Mutation_p.G729R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G729R Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 1108 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTGTGGACAGGGGTACCAGCT 0.468000 8 25 0 0 0.006214 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926618 106926618 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:106926618G>A ENST00000434710.1 - 0 106 TAGCAACAAGGAAAACCCAGC 0.473000 25 62 0 0 0.006320 0 0 SLC35F4 341880 broad.mit.edu 37 14 58060780 58060780 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:58060780C>T ENST00000556826.1 - 2 402 c.166G>A c.(166-168)Ggc>Agc p.G56S SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_Missense_Mutation_p.G92S|SLC35F4_ENST00000557430.1_5'UTR NM_001206920.1 NP_001193849.1 solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CTACTGATGCCACTGTGTGAA 0.493000 7 17 0 0 0.004482 0 0 CP 1356 broad.mit.edu 37 3 148924025 148924025 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:148924025C>T ENST00000264613.6 - 6 1400 c.1138G>A c.(1138-1140)Gaa>Aaa p.E380K NM_000096.3 NP_000087.1 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 380 F5/8 type A 2.|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) CAGATGATTTCCTCAGCGGCA 0.403000 14 40 0 0 0.003163 0 0 CPNE1 8904 broad.mit.edu 37 20 34215288 34215288 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:34215288G>A ENST00000317619.3 - 16 1544 c.1150C>T c.(1150-1152)Cgc>Tgc p.R384C CPNE1_ENST00000397443.1_Missense_Mutation_p.R384C|CPNE1_ENST00000397445.1_Missense_Mutation_p.R384C|CPNE1_ENST00000317677.5_Missense_Mutation_p.R389C|CPNE1_ENST00000397446.1_Missense_Mutation_p.R384C|CPNE1_ENST00000352393.4_Missense_Mutation_p.R384C|CPNE1_ENST00000397442.1_Missense_Mutation_p.R384C Q99829 CPNE1_HUMAN copine I 384 VWFA. lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity p.R384C(2) breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CCATAGAGGCGAACTTGGGGC 0.577000 22 35 0 0 0.005443 0 0 IRF7 3665 broad.mit.edu 37 11 613290 613290 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:613290C>T ENST00000397566.1 - 7 1601 c.1192G>A c.(1192-1194)Ggc>Agc p.G398S IRF7_ENST00000397570.1_Missense_Mutation_p.G356S|IRF7_ENST00000397574.2_Missense_Mutation_p.G385S|IRF7_ENST00000525445.1_Missense_Mutation_p.G279S|IRF7_ENST00000330243.5_Missense_Mutation_p.G398S|IRF7_ENST00000348655.6_Missense_Mutation_p.G356S|IRF7_ENST00000397562.3_Missense_Mutation_p.G92S NM_004031.2 NP_004022.2 Q92985 IRF7_HUMAN interferon regulatory factor 7 385 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CTGGCGGAGCCTGGGGGTCCG 0.672000 16 23 0 0 0.004007 0 0 PLCL2 23228 broad.mit.edu 37 3 17052138 17052138 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:17052138C>T ENST00000418129.2 + 2 1387 c.922C>T c.(922-924)Cat>Tat p.H308Y PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.H308Y|PLCL2_ENST00000432376.1_Missense_Mutation_p.H308Y NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 434 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.H308D(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 ACCTCTGTCTCATTACTTTAT 0.393000 16 67 0 0 0.004990 0 0 SSPO 23145 broad.mit.edu 37 7 149486764 149486764 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:149486764G>A ENST00000378016.2 + 0 4538 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGTGTGACGGAGTCTGGGAC 0.657000 5 9 0 0 0.000602 0 0 TFAP2C 7022 broad.mit.edu 37 20 55209280 55209280 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:55209280G>A ENST00000201031.2 + 5 1121 c.878G>A c.(877-879)aGg>aAg p.R293K TFAP2C_ENST00000544508.1_Missense_Mutation_p.R124K NM_003222.3 NP_003213.1 Q92754 AP2C_HUMAN transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) 293 H-S-H (helix-span-helix), dimerization. cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Colorectal(105;0.229) CCGGCCGGGAGGCGGAAAGCC 0.463000 13 25 0 0 0.001368 0 0 TRIM3 10612 broad.mit.edu 37 11 6472639 6472639 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:6472639G>A ENST00000525074.1 - 8 1957 c.1563C>T c.(1561-1563)ttC>ttT p.F521F TRIM3_ENST00000537602.1_Silent_p.F443F|TRIM3_ENST00000345851.3_Silent_p.F521F|TRIM3_ENST00000359518.3_Silent_p.F521F|TRIM3_ENST00000536344.1_Silent_p.F402F NM_001248006.1 NP_001234935.1 O75382 TRIM3_HUMAN tripartite motif containing 3 521 nervous system development|protein transport early endosome protein C-terminus binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3) 27 all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCCAAAACGGAACTTGAACT 0.582000 19 41 0 0 0.001882 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508003 37508003 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:37508003G>A ENST00000374660.1 + 40 3651 c.3552G>A c.(3550-3552)ctG>ctA p.L1184L ANKRD30A_ENST00000602533.1_Silent_p.L1065L|ANKRD30A_ENST00000361713.1_Silent_p.L1065L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1153 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TAGCCACACTGAAACACCAAT 0.323000 12 39 0 0 0.000978 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12918948 12918948 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:12918948G>A ENST00000240189.2 + 2 171 c.84G>A c.(82-84)atG>atA p.M28I NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 28 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCTCTGCCATGGAGGAGCTGC 0.607000 33 63 0 0 0.002445 0 0 TDRD9 122402 broad.mit.edu 37 14 104472727 104472727 + Splice_Site SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:104472727T>C ENST00000409874.4 + 16 1763 c.1713_splice c.e16-1 p.V572_splice TDRD9_ENST00000339063.5_Splice_Site_p.V572_splice NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 572 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) TTTATAAAGGTTGGAGCACTT 0.393000 15 38 0 0 0.003163 0 0 MIR7-3HG 284424 broad.mit.edu 37 19 4770784 4770784 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:4770784C>T ENST00000586721.1 + 0 509 MIR7-3_ENST00000384898.1_RNA GCGCAGACTCCCTTCGACCTT 0.572000 21 38 0 0 0.008871 0 0 HTR1A 3350 broad.mit.edu 37 5 63257040 63257040 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:63257040G>A ENST00000323865.3 - 1 740 c.507C>T c.(505-507)atC>atT p.I169I RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 169 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) GCATGGGCGGGATAGAGATGA 0.612000 44 93 0 0 0.003610 0 0 LAMA1 284217 broad.mit.edu 37 18 6948508 6948508 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:6948508G>A ENST00000389658.3 - 60 8697 c.8604C>T c.(8602-8604)agC>agT p.S2868S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2868 Laminin G-like 4. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAGCTGTTTGCTGTTAACCG 0.527000 15 20 0 0 0.002450 0 0 SOGA3 387104 broad.mit.edu 37 6 127796913 127796913 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127796913G>A ENST00000556132.1 - 6 3122 c.2258C>T c.(2257-2259)gCc>gTc p.A753V SOGA3_ENST00000465909.2_Missense_Mutation_p.A753V|SOGA3_ENST00000368268.2_Missense_Mutation_p.A753V|SOGA3_ENST00000481848.2_Missense_Mutation_p.A753V|SOGA3_ENST00000525778.1_Missense_Mutation_p.A753V NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 753 integral to membrane GTCGCTCTCGGCGTCGCTGTC 0.692000 31 80 0 0 0.002836 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831772 2831772 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:2831772C>T ENST00000356331.5 + 8 1400 c.1139C>T c.(1138-1140)cCc>cTc p.P380L SH3BP2_ENST00000511747.1_Missense_Mutation_p.P380L|SH3BP2_ENST00000452765.2_Missense_Mutation_p.P380L|SH3BP2_ENST00000435136.2_Missense_Mutation_p.P380L|SH3BP2_ENST00000503393.2_Missense_Mutation_p.P437L|SH3BP2_ENST00000442312.2_Missense_Mutation_p.P408L NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 380 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) TTTGTGCCCCCCGTGGCTCCC 0.682000 Cherubism 11 33 0 0 0.000978 0 0 PSEN1 5663 broad.mit.edu 37 14 73640349 73640349 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:73640349C>T ENST00000324501.5 + 5 686 c.414C>T c.(412-414)atC>atT p.I138I PSEN1_ENST00000394164.1_Silent_p.I134I|PSEN1_ENST00000394157.3_Silent_p.I138I|PSEN1_ENST00000357710.4_Silent_p.I134I|PSEN1_ENST00000344094.3_Silent_p.I138I|PSEN1_ENST00000557511.1_Silent_p.I138I|PSEN1_ENST00000261970.3_Silent_p.I138I|PSEN1_ENST00000406768.1_Silent_p.I46I NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 138 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) ATGCTGCCATCATGATCAGTG 0.443000 21 44 0 0 0.010504 0 0 KPNA3 3839 broad.mit.edu 37 13 50306751 50306751 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:50306751G>A ENST00000261667.3 - 5 691 c.277C>T c.(277-279)Cag>Tag p.Q93* NM_002267.3 NP_002258.2 O00505 IMA3_HUMAN karyopherin alpha 3 (importin alpha 4) 93 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly cytoplasm|nuclear pore nuclear localization sequence binding|protein transporter activity cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4) 21 Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.42e-09) CTTGCTGCCTGGACAGCACTC 0.328000 28 56 0 0 0.002836 0 0 COL5A2 1290 broad.mit.edu 37 2 189962046 189962046 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:189962046C>T ENST00000374866.3 - 6 687 c.413G>A c.(412-414)gGa>gAa p.G138E NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 138 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCCTGTGATCCTGGAGGTCC 0.408000 9 24 0 0 0.008291 0 0 KCNC2 3747 broad.mit.edu 37 12 75442073 75442073 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:75442073C>T ENST00000549446.1 - 4 2320 c.1640G>A c.(1639-1641)gGa>gAa p.G547E KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000550433.1_Missense_Mutation_p.G547E|KCNC2_ENST00000341669.3_Missense_Mutation_p.G547E|KCNC2_ENST00000548243.1_Intron|KCNC2_ENST00000298972.1_Missense_Mutation_p.G547E|KCNC2_ENST00000548513.1_Missense_Mutation_p.G547E|KCNC2_ENST00000393288.2_Missense_Mutation_p.G547E|KCNC2_ENST00000540018.1_Intron NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 547 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CGGCTCACTTCCTGTACTGTC 0.478000 15 27 0 0 0.004007 0 0 PRSS35 167681 broad.mit.edu 37 6 84233438 84233438 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:84233438G>A ENST00000536636.1 + 3 623 c.278G>A c.(277-279)cGa>cAa p.R93Q PRSS35_ENST00000369700.3_Missense_Mutation_p.R93Q NM_001170423.1 NP_001163894.1 Q8N3Z0 PRS35_HUMAN protease, serine, 35 93 proteolysis extracellular region serine-type endopeptidase activity breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) AATGGCACCCGAACCTTAACC 0.453000 8 37 0 0 0.004482 0 0 LAMA5 3911 broad.mit.edu 37 20 60897381 60897381 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:60897381G>A ENST00000252999.3 - 47 6356 c.6290C>T c.(6289-6291)cCc>cTc p.P2097L NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2097 Laminin EGF-like 21. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCGGCACTGGGGTCCCATGGT 0.721000 7 11 0 0 0.001984 0 0 TANGO6 79613 broad.mit.edu 37 16 68941384 68941384 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:68941384C>T ENST00000261778.1 + 10 1718 c.1706C>T c.(1705-1707)tCc>tTc p.S569F NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) CAGAAGGTATCCTCTGAGCAG 0.473000 86 139 0 0 0.003610 0 0 KRT16P2 400578 broad.mit.edu 37 17 16734794 16734794 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:16734794G>A ENST00000579062.1 - 0 521 GGTCAGTCCTGGCCAGGGTCA 0.622000 3 23 0 0 0.004672 0 0 LY9 4063 broad.mit.edu 37 1 160788098 160788098 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160788098G>A ENST00000263285.5 + 6 1463 c.1433G>A c.(1432-1434)cGa>cAa p.R478Q LY9_ENST00000368035.1_Missense_Mutation_p.R130Q|LY9_ENST00000368040.1_Missense_Mutation_p.R130Q|LY9_ENST00000341032.4_Missense_Mutation_p.R388Q|LY9_ENST00000368041.2_Missense_Mutation_p.R348Q NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 478 cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ATTTGGAAGCGAAAAGGACGG 0.522000 11 30 0 0 0.000978 0 0 DNAH5 1767 broad.mit.edu 37 5 13729599 13729599 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:13729599C>T ENST00000265104.4 - 69 11936 c.11832G>A c.(11830-11832)ctG>ctA p.L3944L NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3944 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CCACCAAATTCAGCCATGTTA 0.373000 Kartagener syndrome 13 28 0 0 0.001855 0 0 KIAA1244 57221 broad.mit.edu 37 6 138531086 138531086 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:138531086G>A ENST00000251691.4 + 4 425 c.259G>A c.(259-261)Gat>Aat p.D87N NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 87 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CATGGAAACAGATTCTGATGA 0.488000 17 77 0 0 0.007413 0 0 RXFP1 59350 broad.mit.edu 37 4 159493972 159493972 + Translation_Start_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:159493972G>A ENST00000448688.2 + 0 947 RXFP1_ENST00000470033.1_Missense_Mutation_p.D58N|RXFP1_ENST00000343542.5_Missense_Mutation_p.D58N|RXFP1_ENST00000423548.1_Missense_Mutation_p.D58N|RXFP1_ENST00000307765.5_Missense_Mutation_p.D58N|RXFP1_ENST00000460056.2_De_novo_Start_OutOfFrame Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) GAATCAGGCCGATGAGGACAA 0.532000 14 38 0 0 0.003163 0 0 OR6C3 254786 broad.mit.edu 37 12 55725784 55725784 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:55725784C>T ENST00000379667.1 + 1 300 c.300C>T c.(298-300)ttC>ttT p.F100F NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 AACTCTTTTTCTTTATCTTCA 0.413000 21 43 0 0 0.008871 0 0 SWT1 54823 broad.mit.edu 37 1 185153928 185153928 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:185153928C>T ENST00000367500.4 + 9 1459 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C SWT1_ENST00000367501.3_Missense_Mutation_p.R432C NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 432 PINc. breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 AGAGCTAGATCGTATGAAGGA 0.343000 16 33 0 0 0.006122 0 0 LST3 0 broad.mit.edu 37 12 21196347 21196347 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:21196347C>T ENST00000381541.3 + 7 872 c.807C>T c.(805-807)tcC>tcT p.S269S SLCO1B7_ENST00000421593.2_Silent_p.S222S|SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.S269S|LST3_ENST00000540229.1_Intron GAATAGTATCCATTATTTCTT 0.368000 16 43 0 0 0.004990 0 0 PITPNM2 57605 broad.mit.edu 37 12 123498448 123498448 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:123498448G>A ENST00000280562.5 - 3 425 c.220C>T c.(220-222)Cgc>Tgc p.R74C PITPNM2_ENST00000451868.2_5'UTR|PITPNM2_ENST00000542749.1_Missense_Mutation_p.R74C|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R74C|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R74C Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 74 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) AGGATGGAGCGGAACCAGCTG 0.622000 16 39 0 0 0.006122 0 0 EPHB2 2048 broad.mit.edu 37 1 23111538 23111538 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:23111538C>T ENST00000400191.3 + 3 798 c.780C>T c.(778-780)ttC>ttT p.F260F EPHB2_ENST00000374632.3_Silent_p.F260F|EPHB2_ENST00000374630.3_Silent_p.F260F|EPHB2_ENST00000374627.1_Silent_p.F254F|EPHB2_ENST00000544305.1_Silent_p.F260F NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 260 Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) AAGCAGGCTTCGAGGCCGTTG 0.617000 18 63 0 0 0.006122 0 0 SCN10A 6336 broad.mit.edu 37 3 38835276 38835276 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38835276C>T ENST00000449082.2 - 1 225 c.226G>A c.(226-228)Ggg>Agg p.G76R NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 76 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGGGGCTCCCCGATCAGTTCT 0.562000 35 88 0 0 0.004289 0 0 TNIK 23043 broad.mit.edu 37 3 170912390 170912390 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:170912390G>A ENST00000436636.2 - 5 685 c.341C>T c.(340-342)aCc>aTc p.T114I TNIK_ENST00000460047.1_Missense_Mutation_p.T114I|TNIK_ENST00000538048.1_Missense_Mutation_p.T114I|TNIK_ENST00000470834.1_Missense_Mutation_p.T114I|TNIK_ENST00000369326.5_Missense_Mutation_p.T114I|TNIK_ENST00000357327.5_Missense_Mutation_p.T114I|TNIK_ENST00000341852.6_Missense_Mutation_p.T114I|TNIK_ENST00000284483.8_Missense_Mutation_p.T114I|TNIK_ENST00000488470.1_Missense_Mutation_p.T114I|TNIK_ENST00000475336.1_Missense_Mutation_p.T114I NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 114 Protein kinase. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GATCAGGTCGGTGACAGAGCC 0.463000 36 66 0 0 0.005524 0 0 BICD2 23299 broad.mit.edu 37 9 95480098 95480098 + Missense_Mutation SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:95480098G>C ENST00000356884.6 - 6 2306 c.2239C>G c.(2239-2241)Cgt>Ggt p.R747G BICD2_ENST00000375512.3_Missense_Mutation_p.R747G NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 747 Interacts with RAB6A (By similarity). microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 AACATAGCACGCAGCGAGGAG 0.577000 9 19 0 0 0.004482 0 0 USP7 7874 broad.mit.edu 37 16 8995974 8995974 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:8995974G>A ENST00000344836.4 - 18 2210 c.2012C>T c.(2011-2013)gCt>gTt p.A671V USP7_ENST00000535863.1_Missense_Mutation_p.A572V|USP7_ENST00000381886.4_Missense_Mutation_p.A655V NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 671 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 CGCTCCACTAGCAGCCAGCTC 0.458000 16 46 0 0 0.007413 0 0 CKAP4 10970 broad.mit.edu 37 12 106633346 106633346 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:106633346G>A ENST00000378026.4 - 2 1401 c.1265C>T c.(1264-1266)tCc>tTc p.S422F NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 422 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CACCTGCATGGAGAGCACCCC 0.657000 11 60 0 0 0.001368 0 0 P4HA3 283208 broad.mit.edu 37 11 74015355 74015355 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:74015355C>T ENST00000331597.4 - 2 348 c.303G>A c.(301-303)agG>agA p.R101R P4HA3_ENST00000427714.2_Silent_p.R101R NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 101 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) GTACCACATTCCTCCAGTCAG 0.493000 61 92 0 0 0.003610 0 0 MYO1H 283446 broad.mit.edu 37 12 109826641 109826641 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:109826641C>T ENST00000310903.5 + 2 224 c.118C>T c.(118-120)Ctc>Ttc p.L40F MYO1H_ENST00000431443.2_Missense_Mutation_p.L40F B4DNW6 B4DNW6_HUMAN myosin IH 166 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CAGCGAGAACCTCATATACGT 0.493000 60 146 0 0 0.003610 0 0 ATP1A2 477 broad.mit.edu 37 1 160090788 160090788 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:160090788G>A ENST00000361216.3 + 2 194 c.105G>A c.(103-105)aaG>aaA p.K35K ATP1A2_ENST00000392233.3_Silent_p.K35K|ATP1A2_ENST00000472488.1_3'UTR NM_000702.3 NP_000693.1 P50993 AT1A2_HUMAN ATPase, Na+/K+ transporting, alpha 2 polypeptide 35 ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 69 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) AGCTGAAGAAGGAGGTGGCAA 0.607000 3 8 0 0 0.004672 0 0 NMT1 4836 broad.mit.edu 37 17 43182242 43182242 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:43182242T>C ENST00000592782.1 + 12 1479 c.1348T>C c.(1348-1350)Ttc>Ctc p.F450L NMT1_ENST00000258960.2_Missense_Mutation_p.F450L P30419 NMT1_HUMAN N-myristoyltransferase 1 450 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation actin cytoskeleton|cell junction|cytosol glycylpeptide N-tetradecanoyltransferase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1) 8 Prostate(33;0.155) GTTTGATGTGTTCAATGCACT 0.483000 21 31 0 0 0.001882 0 0 FAM162A 26355 broad.mit.edu 37 3 122126248 122126248 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:122126248T>C ENST00000469967.1 + 4 452 c.384T>C c.(382-384)ggT>ggC p.G128G FAM162A_ENST00000232125.5_Intron|FAM162A_ENST00000477892.1_Intron Q96A26 F162A_HUMAN family with sequence similarity 162, member A 0 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 TGAGAAGGGGTTTCTTCTCTA 0.443000 3 20 0 0 0.004672 0 0 PCDH18 54510 broad.mit.edu 37 4 138451129 138451129 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:138451129G>A ENST00000344876.4 - 1 2500 c.2114C>T c.(2113-2115)tCc>tTc p.S705F PCDH18_ENST00000412923.2_Missense_Mutation_p.S705F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.S485F NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 705 brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S705F(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TGCTCCTAAGGAAATAATTAT 0.423000 19 56 0 0 0.006122 0 0 BBS1 582 broad.mit.edu 37 11 66278144 66278144 + Missense_Mutation SNP C C T rs113994178 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:66278144C>T ENST00000318312.7 + 1 65 c.14C>T c.(13-15)tCc>tTc p.S5F BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000393994.2_Missense_Mutation_p.S5F|CTD-3074O7.11_ENST00000419755.3_Intron|BBS1_ENST00000455748.2_Missense_Mutation_p.S5F|BBS1_ENST00000537537.1_5'UTR NM_024649.4 NP_078925.3 Q8NFJ9 BBS1_HUMAN Bardet-Biedl syndrome 1 5 nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis BBSome|cilium membrane|cytoplasm protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1) 28 GCCGCTGCGTCCTCATCGGAT 0.647000 Bardet-Biedl syndrome 17 21 0 0 0.006122 0 0 MYH2 4620 broad.mit.edu 37 17 10436665 10436665 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:10436665C>T ENST00000245503.5 - 21 2762 c.2378G>A c.(2377-2379)cGa>cAa p.R793Q MYH2_ENST00000397183.2_Missense_Mutation_p.R793Q|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 793 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GGCCTGGGTTCGGGTAATCAG 0.473000 16 40 0 0 0.007413 0 0 TTN 7273 broad.mit.edu 37 2 179643697 179643697 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179643697C>T ENST00000589042.1 - 24 4336 c.4112G>A c.(4111-4113)gGa>gAa p.G1371E TTN_ENST00000342992.6_Missense_Mutation_p.G1371E|TTN_ENST00000359218.5_Missense_Mutation_p.G1325E|TTN_ENST00000460472.2_Missense_Mutation_p.G1325E|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G1371E|TTN_ENST00000342175.6_Missense_Mutation_p.G1325E|TTN_ENST00000591111.1_Missense_Mutation_p.G1371E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1371 Ig-like 5. 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) AATTGCATTTCCTTTAATATT 0.448000 9 24 0 0 0.004482 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519234 113519234 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:113519234G>A ENST00000284601.3 - 4 1981 c.1913C>T c.(1912-1914)tCa>tTa p.S638L NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 638 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 AATCCCACCTGATTTTTCTTC 0.378000 14 31 0 0 0.001855 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54676174 54676174 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:54676174G>A ENST00000474759.1 + 11 1121 c.1073G>A c.(1072-1074)gGa>gAa p.G358E CACNA2D3_ENST00000288197.5_Missense_Mutation_p.G358E|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.G358E|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.G264E NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 358 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) ACGGGACAAGGAAGTATCTGC 0.408000 8 15 0 0 0.004482 0 0 B3GAT1 27087 broad.mit.edu 37 11 134253818 134253818 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:134253818C>T ENST00000524765.1 - 3 4921 c.377G>A c.(376-378)cGg>cAg p.R126Q B3GAT1_ENST00000392580.1_Missense_Mutation_p.R126Q|B3GAT1_ENST00000537389.1_Missense_Mutation_p.R139Q|B3GAT1_ENST00000312527.4_Missense_Mutation_p.R126Q Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 126 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CAGCGGCGTCCGGCGCGGCGC 0.711000 6 11 0 0 0.001984 0 0 GABRB1 2560 broad.mit.edu 37 4 47427930 47427930 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:47427930C>T ENST00000295454.3 + 9 1612 c.1320C>T c.(1318-1320)atC>atT p.I440I GABRB1_ENST00000538619.1_Silent_p.I370I NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 440 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) AAGTCAAGATCCCCGACTTGA 0.562000 20 44 0 0 0.007413 0 0 GML 2765 broad.mit.edu 37 8 143927901 143927901 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:143927901G>A ENST00000220940.1 + 4 362 c.272G>A c.(271-273)gGa>gAa p.G91E NM_002066.2 NP_002057.1 Q99445 GML_HUMAN glycosylphosphatidylinositol anchored molecule like 91 UPAR/Ly6. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation anchored to membrane|extrinsic to membrane|plasma membrane NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8) 18 all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) GAAGCCCCAGGAAAAATCTTC 0.388000 12 19 0 0 0.000978 0 0 PPAP2B 8613 broad.mit.edu 37 1 56962279 56962279 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:56962279C>T ENST00000371250.3 - 6 1431 c.880G>A c.(880-882)Gaa>Aaa p.E294K PPAP2B_ENST00000459962.1_5'UTR NM_003713.4 NP_003704.3 O14495 LPP3_HUMAN phosphatidic acid phosphatase type 2B 294 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process adherens junction|Golgi apparatus|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GAAAGGATTTCCTTCCGGATA 0.478000 17 35 0 0 0.006122 0 0 SLC17A1 6568 broad.mit.edu 37 6 25811773 25811773 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:25811773C>T ENST00000244527.4 - 10 1146 c.1030_splice c.e10-1 p.G344_splice SLC17A1_ENST00000476801.1_Splice_Site_p.G344_splice|SLC17A1_ENST00000468082.1_Splice_Site_p.G290_splice|SLC17A1_ENST00000427328.1_Splice_Site_p.G290_splice NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 344 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 AAGGAGAAATCCTGGGGAGTG 0.473000 13 50 0 0 0.001368 0 0 FLNC 2318 broad.mit.edu 37 7 128484134 128484134 + Silent SNP G G A rs61737781 by1000genomes TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:128484134G>A ENST00000325888.8 + 20 3267 c.3006G>A c.(3004-3006)cgG>cgA p.R1002R FLNC_ENST00000346177.6_Silent_p.R1002R NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1002 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGGATGTGCGGATGACTTCGC 0.662000 12 22 0 0 0.000978 0 0 ABCC6 368 broad.mit.edu 37 16 16267236 16267236 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:16267236C>T ENST00000205557.7 - 21 2721 c.2692G>A c.(2692-2694)Gac>Aac p.D898N NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 898 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GTGGTACGGTCCTTCTCAGGG 0.532000 9 45 0 0 0.004482 0 0 CCDC73 493860 broad.mit.edu 37 11 32705056 32705056 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:32705056G>A ENST00000531481.1 - 7 731 c.455C>T c.(454-456)tCc>tTc p.S152F CCDC73_ENST00000534415.1_Intron|CCDC73_ENST00000335185.5_Intron Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 0 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) CCAGATGGGGGAAAATATGTT 0.303000 11 21 0 0 0.000978 0 0 SHANK3 85358 broad.mit.edu 37 22 51123077 51123077 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:51123077T>C ENST00000414786.2 + 9 1255 c.1028T>C c.(1027-1029)gTt>gCt p.V343A SHANK3_ENST00000445220.2_Missense_Mutation_p.V343A|SHANK3_ENST00000262795.3_Missense_Mutation_p.V343A F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 343 central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5) 8 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) GACTCGGATGTTGGTGAGTTC 0.567000 10 41 0 0 0.006214 0 0 PGBD5 79605 broad.mit.edu 37 1 230461093 230461093 + Missense_Mutation SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:230461093G>C ENST00000321327.2 - 8 1431 c.1432C>G c.(1432-1434)Ctg>Gtg p.L478V PGBD5_ENST00000391860.1_Missense_Mutation_p.L333V|PGBD5_ENST00000525115.1_Missense_Mutation_p.L379V|PGBD5_ENST00000530424.1_5'UTR Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 379 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) ATGTAGCTCAGGTGAGCGGCA 0.537000 55 117 0 0 0.003610 0 0 GSTM4 2948 broad.mit.edu 37 1 110207637 110207637 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:110207637C>T ENST00000326729.5 + 8 840 c.572C>T c.(571-573)tCc>tTc p.S191F NM_147148.2 NP_671489.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 0 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) TTCTAGGTTTCCTGTGGCATA 0.408000 13 20 0 0 0.001855 0 0 BAGE2 85319 broad.mit.edu 37 21 11039257 11039257 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:11039257C>T ENST00000470054.1 - 0 946 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTCTAACAACTGCAGTTGCT 0.403000 9 167 0 0 0.004482 0 0 PROKR2 128674 broad.mit.edu 37 20 5294809 5294809 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:5294809G>A ENST00000546004.1 - 2 453 c.207C>T c.(205-207)atC>atT p.I69I PROKR2_ENST00000217270.3_Silent_p.I69I Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 69 integral to membrane|plasma membrane neuropeptide Y receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 CAAAGTTACCGATGCCGCAGA 0.542000 HNSCC(71;0.22) 32 47 0 0 0.002096 0 0 ZNF676 163223 broad.mit.edu 37 19 22362968 22362968 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:22362968G>A ENST00000397121.2 - 3 1868 c.1551C>T c.(1549-1551)tcC>tcT p.S517S NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 517 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TAAGGATCGAGGACCAGCTGA 0.403000 8 25 0 0 0.003080 0 0 AREL1 9870 broad.mit.edu 37 14 75139651 75139651 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:75139651G>A ENST00000356357.4 - 11 1820 c.1305C>T c.(1303-1305)ggC>ggT p.G435G AREL1_ENST00000557401.1_5'UTR NM_001039479.1 NP_001034568.1 apoptosis resistant E3 ubiquitin protein ligase 1 AGGTCTCAGAGCCTCCTGGGG 0.512000 18 24 0 0 0.008871 0 0 ZNF335 63925 broad.mit.edu 37 20 44581339 44581339 + Silent SNP G G A rs143040607 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:44581339G>A ENST00000322927.2 - 19 2812 c.2712C>T c.(2710-2712)ccC>ccT p.P904P ZNF335_ENST00000426788.1_Silent_p.P749P NM_022095.3 NP_071378.1 Q9H4Z2 ZN335_HUMAN zinc finger protein 335 904 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) CCTCTCCTGCGGGCTCCTCGC 0.572000 11 40 0 0 0.000978 0 0 THSD7B 80731 broad.mit.edu 37 2 138400061 138400061 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:138400061G>A ENST00000409968.1 + 21 3981 c.3803G>A c.(3802-3804)cGa>cAa p.R1268Q THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1240Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1271Q thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATTTTAGGTCGAATGAGCCGG 0.478000 25 70 0 0 0.003954 0 0 AURKA 6790 broad.mit.edu 37 20 54961538 54961538 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:54961538G>A ENST00000395909.4 - 5 659 c.94C>T c.(94-96)Cct>Tct p.P32S AURKA_ENST00000312783.6_Missense_Mutation_p.P32S|AURKA_ENST00000395907.1_Missense_Mutation_p.P32S|AURKA_ENST00000371356.2_Missense_Mutation_p.P32S|AURKA_ENST00000347343.2_Missense_Mutation_p.P32S|AURKA_ENST00000395911.1_Missense_Mutation_p.P32S|AURKA_ENST00000395914.1_Missense_Mutation_p.P32S|AURKA_ENST00000395915.3_Missense_Mutation_p.P32S|AURKA_ENST00000395913.3_Missense_Mutation_p.P32S NM_198433.1 NP_940835.1 O14965 AURKA_HUMAN aurora kinase A 32 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2) 22 Colorectal(105;0.202) TTCTGACAAGGAAATTGCTGA 0.443000 15 39 0 0 0.002450 0 0 SYCP1 6847 broad.mit.edu 37 1 115453118 115453118 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:115453118G>A ENST00000369522.3 + 17 1661 c.1421G>A c.(1420-1422)aGa>aAa p.R474K SYCP1_ENST00000369518.1_Missense_Mutation_p.R474K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 474 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTCCAAGCCAGAGAGGTTTGT 0.264000 13 18 0 0 0.002450 0 0 LILRP2 79166 broad.mit.edu 37 19 55221631 55221631 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55221631C>T ENST00000413439.1 + 0 1411 GCATCCTGATCGCAGGTGAGG 0.677000 11 23 0 0 0.000978 0 0 NOS3 4846 broad.mit.edu 37 7 150695756 150695756 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150695756G>A ENST00000297494.3 + 7 1161 c.804G>A c.(802-804)gtG>gtA p.V268V NOS3_ENST00000461406.1_Silent_p.V62V|NOS3_ENST00000484524.1_Silent_p.V268V|NOS3_ENST00000467517.1_Silent_p.V268V NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 268 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CAGCCAACGTGGAGATCACCG 0.657000 6 13 0 0 0.001168 0 0 PGLYRP3 114771 broad.mit.edu 37 1 153279639 153279639 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:153279639C>T ENST00000290722.1 - 2 212 c.160G>A c.(160-162)Ggg>Agg p.G54R NM_052891.1 NP_443123.1 Q96LB9 PGRP3_HUMAN peptidoglycan recognition protein 3 54 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 28 all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CACTGCATCCCTGGGAGCTGG 0.632000 7 13 0 0 0.003080 0 0 SCN1A 6323 broad.mit.edu 37 2 166929996 166929996 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166929996C>T ENST00000423058.2 - 1 153 c.136G>A c.(136-138)Gaa>Aaa p.E46K SCN1A_ENST00000375405.3_Missense_Mutation_p.E46K|SCN1A_ENST00000303395.4_Missense_Mutation_p.E46K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E46K NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 46 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGGCCATTTTCGTCGTCATCT 0.448000 37 93 0 0 0.006999 0 0 SHANK1 50944 broad.mit.edu 37 19 51205794 51205794 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51205794G>A ENST00000293441.1 - 11 1695 c.1677C>T c.(1675-1677)ttC>ttT p.F559F SHANK1_ENST00000391814.1_Silent_p.F559F|SHANK1_ENST00000359082.3_Silent_p.F559F NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 559 SH3. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) TCACAGCCATGAAGGAGCGTC 0.701000 8 18 0 0 0.006214 0 0 NFASC 23114 broad.mit.edu 37 1 204923443 204923443 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:204923443G>A ENST00000367172.4 + 6 671 c.343G>A c.(343-345)Gaa>Aaa p.E115K NFASC_ENST00000404076.1_Missense_Mutation_p.E109K|NFASC_ENST00000404907.1_Missense_Mutation_p.E109K|NFASC_ENST00000338515.6_Missense_Mutation_p.E115K|NFASC_ENST00000403080.1_Missense_Mutation_p.E115K|NFASC_ENST00000367171.4_Missense_Mutation_p.E115K|NFASC_ENST00000367169.4_Missense_Mutation_p.E115K|NFASC_ENST00000360049.4_Missense_Mutation_p.E109K|NFASC_ENST00000367170.4_Missense_Mutation_p.E115K|NFASC_ENST00000339876.6_Missense_Mutation_p.E115K|NFASC_ENST00000513543.1_Missense_Mutation_p.E109K|NFASC_ENST00000401399.1_Missense_Mutation_p.E115K|NFASC_ENST00000539706.1_Missense_Mutation_p.E109K|NFASC_ENST00000338586.6_Missense_Mutation_p.E115K O94856 NFASC_HUMAN neurofascin 115 Ig-like C2-type 1. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ATATGAGGGGGAATATCAGTG 0.607000 7 24 0 0 0.003080 0 0 OR1L6 392390 broad.mit.edu 37 9 125512364 125512364 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125512364C>T ENST00000373684.1 + 1 346 c.346C>T c.(346-348)Cct>Tct p.P116S OR1L6_ENST00000304720.2_Missense_Mutation_p.P80S Q8NGR2 OR1L6_HUMAN olfactory receptor, family 1, subfamily L, member 6 116 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1) 12 AGTCATAGTGCCTAAGATGCT 0.468000 23 37 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179642167 179642167 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:179642167G>A ENST00000589042.1 - 26 4849 c.4625C>T c.(4624-4626)tCa>tTa p.S1542L TTN_ENST00000342992.6_Missense_Mutation_p.S1542L|TTN_ENST00000359218.5_Missense_Mutation_p.S1496L|TTN_ENST00000460472.2_Missense_Mutation_p.S1496L|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S1542L|TTN_ENST00000342175.6_Missense_Mutation_p.S1496L|TTN_ENST00000591111.1_Missense_Mutation_p.S1542L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1542 Ig-like 6. 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) TAAAATCACTGAAATTGAAGA 0.383000 8 10 0 0 0.003080 0 0 GRIK4 2900 broad.mit.edu 37 11 120745931 120745931 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:120745931C>T ENST00000527524.2 + 11 1430 c.1143C>T c.(1141-1143)ttC>ttT p.F381F RP11-640N11.2_ENST00000505153.2_RNA|GRIK4_ENST00000438375.2_Silent_p.F381F Q16099 GRIK4_HUMAN glutamate receptor, ionotropic, kainate 4 381 glutamate signaling pathway|synaptic transmission cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 69 Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21) BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116) L-Glutamic Acid(DB00142) TCTTACAGTTCACAAGGAATG 0.493000 11 21 0 0 0.000978 0 0 SERPINA9 327657 broad.mit.edu 37 14 94942575 94942575 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:94942575C>T ENST00000546329.1 - 1 95 c.17G>A c.(16-18)gGg>gAg p.G6E SERPINA9_ENST00000539349.1_Intron|SERPINA9_ENST00000337425.5_5'UTR|SERPINA9_ENST00000424550.2_5'UTR Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 0 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) ctctcctctccctccagctga 0.438000 14 47 0 0 0.003163 0 0 RELN 5649 broad.mit.edu 37 7 103143606 103143606 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:103143606G>A ENST00000428762.1 - 52 8505 c.8346C>T c.(8344-8346)ttC>ttT p.F2782F RELN_ENST00000343529.5_Silent_p.F2782F|RELN_ENST00000424685.2_Silent_p.F2782F|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2782 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 p.F2782L(1) 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) AACTCACACCGAAGTCAGTAG 0.408000 9 32 0 0 0.006214 0 0 LARP1B 55132 broad.mit.edu 37 4 129120688 129120688 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:129120688G>A ENST00000326639.6 + 16 2309 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K LARP1B_ENST00000354456.3_Missense_Mutation_p.E119K|LARP1B_ENST00000506199.1_3'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.E641K|LARP1B_ENST00000441387.1_Missense_Mutation_p.E700K NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 700 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 TCCTTCTCATGAACTTTTGAA 0.408000 7 17 0 0 0.003080 0 0 TERT 7015 broad.mit.edu 37 5 1260658 1260658 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:1260658C>T ENST00000310581.5 - 12 2958 c.2901G>A c.(2899-2901)ggG>ggA p.G967G TERT_ENST00000296820.5_3'UTR|TERT_ENST00000334602.6_Silent_p.G904G NM_001193376.1|NM_198253.2 NP_001180305.1|NP_937983.2 O14746 TERT_HUMAN telomerase reverse transcriptase 967 CTE. anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase cytoplasm|nucleolus|PML body|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GCATGTTCCTCCCAGCCTTGA 0.577000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 17 32 0 0 0.006122 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57088096 57088096 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:57088096G>A ENST00000532437.1 - 2 496 c.185C>T c.(184-186)cCt>cTt p.P62L TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.P62L Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 62 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) AGGCCCAACAGGCACCAGCAG 0.662000 13 24 0 0 0.003163 0 0 LOC494141 494141 broad.mit.edu 37 11 18231632 18231632 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:18231632G>A ENST00000527059.1 + 1 878 c.418G>A c.(418-420)Gaa>Aaa p.E140K RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.E140K|RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.E140K AGGGACAACGGAAGCAATTTT 0.458000 9 15 0 0 0.004482 0 0 AXDND1 126859 broad.mit.edu 37 1 179497464 179497464 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:179497464A>G ENST00000367618.3 + 23 3000 c.2613A>G c.(2611-2613)caA>caG p.Q871Q NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 871 Glu-rich. NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 TGTTCTAGCAACCTTCAACAT 0.443000 5 15 0 0 0.000602 0 0 ADCY8 114 broad.mit.edu 37 8 132051923 132051923 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:132051923G>A ENST00000286355.5 - 1 2749 c.657C>T c.(655-657)ttC>ttT p.F219F ADCY8_ENST00000377928.3_Silent_p.F219F NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 219 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAATGCCGGTGAAGAAGCCCA 0.622000 HNSCC(32;0.087) 16 25 0 0 0.004007 0 0 FSIP2 401024 broad.mit.edu 37 2 186670720 186670720 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:186670720G>A ENST00000343098.5 + 17 16954 c.16954G>A c.(16954-16956)Gaa>Aaa p.E5652K FSIP2_ENST00000424728.1_Missense_Mutation_p.E5563K NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TAATAATAATGAAATTGAGAA 0.269000 10 38 0 0 0.000978 0 0 STRA13 201254 broad.mit.edu 37 17 79980701 79980701 + Splice_Site SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:79980701C>T ENST00000392359.3 - 1 93 c.e1+1 STRA13_ENST00000584347.1_Splice_Site|STRA13_ENST00000583767.1_5'UTR|STRA13_ENST00000306704.6_Splice_Site|STRA13_ENST00000580435.1_Splice_Site NM_001271006.1 NP_001257935.1 A8MT69 CENPX_HUMAN stimulated by retinoic acid 13 DNA repair chromosome, centromeric region|Fanconi anaemia nuclear complex DNA binding|protein binding all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCGGCCCTCACCTTCCGGAAG 0.741000 5 3 0 0 0.001168 0 0 OR4C13 283092 broad.mit.edu 37 11 49974138 49974138 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:49974138C>T ENST00000555099.1 + 1 196 c.164C>T c.(163-165)tCc>tTc p.S55F NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 55 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 TCACTGAGATCCCCCATGTAC 0.428000 48 100 0 0 0.003610 0 0 OR4D9 390199 broad.mit.edu 37 11 59282701 59282701 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:59282701C>T ENST00000329328.3 + 1 316 c.316C>T c.(316-318)Ctt>Ttt p.L106F NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 106 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L106F(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CTTCTTCCACCTTCTGGGGGG 0.478000 19 48 0 0 0.007413 0 0 C6orf58 352999 broad.mit.edu 37 6 127912742 127912742 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127912742C>T ENST00000329722.7 + 6 980 c.968C>T c.(967-969)tCt>tTt p.S323F NM_001010905.1 NP_001010905.1 Q6P5S2 CF058_HUMAN chromosome 6 open reading frame 58 323 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) GAATCTAGCTCTAGAAGTTAT 0.269000 12 21 0 0 0.001368 0 0 RHD 6007 broad.mit.edu 37 1 25599183 25599183 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:25599183C>A ENST00000328664.4 + 1 300 c.145C>A c.(145-147)Caa>Aaa p.Q49K RHD_ENST00000423253.1_3'UTR|RHD_ENST00000417538.2_Missense_Mutation_p.Q49K|RHD_ENST00000454452.2_Missense_Mutation_p.Q49K|RHD_ENST00000357542.4_Missense_Mutation_p.Q49K|RHD_ENST00000423810.2_Missense_Mutation_p.Q49K|RHD_ENST00000568195.1_Missense_Mutation_p.Q49K|RHD_ENST00000342055.5_Missense_Mutation_p.Q49K NM_016124.3 NP_057208.2 Q02161 RHD_HUMAN Rh blood group, D antigen 49 integral to plasma membrane breast(2)|large_intestine(4)|lung(7)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCATCCTATCAAGGTGAGAG 0.522000 41 33 2.69774e-35 2.78922e-35 0.003610 1 0 OTUD4 54726 broad.mit.edu 37 4 146076605 146076605 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:146076605G>A ENST00000454497.2 - 10 773 c.636C>T c.(634-636)tcC>tcT p.S212S OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Silent_p.S277S NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 276 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) CAGCAGCAATGGAATAATCAC 0.299000 6 30 0 0 0.001984 0 0 AKR1B10 57016 broad.mit.edu 37 7 134217804 134217804 + Missense_Mutation SNP G G A rs148486050 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:134217804G>A ENST00000359579.4 + 4 720 c.400G>A c.(400-402)Gga>Aga p.G134R AKR1B10_ENST00000475559.1_3'UTR NM_020299.4 NP_064695.3 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 (aldose reductase) 134 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding p.G134R(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5) 20 TGCCATCGGTGGAAAAGCAAC 0.453000 34 76 0 0 0.006999 0 0 FAT4 79633 broad.mit.edu 37 4 126411760 126411760 + Missense_Mutation SNP G G A rs148534921 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:126411760G>A ENST00000394329.3 + 17 13796 c.13783G>A c.(13783-13785)Gaa>Aaa p.E4595K FAT4_ENST00000335110.5_Missense_Mutation_p.E2836K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4595 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TATCTATGATGAAACTGATAT 0.483000 20 42 0 0 0.010504 0 0 CNTNAP1 8506 broad.mit.edu 37 17 40839962 40839962 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:40839962C>T ENST00000264638.4 + 8 1486 c.1269C>T c.(1267-1269)atC>atT p.I423I CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 423 Laminin G-like 2. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) ACGTGTCCATCGCGCAGAGCG 0.617000 23 83 0 0 0.003954 0 0 OR4D2 124538 broad.mit.edu 37 17 56247560 56247560 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:56247560C>T ENST00000545221.1 + 1 544 c.544C>T c.(544-546)Ccc>Tcc p.P182S NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 182 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CTGTGATGTTCCCCAAGTACT 0.537000 33 108 0 0 0.003271 0 0 BTBD9 114781 broad.mit.edu 37 6 38160328 38160328 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38160328G>A ENST00000481247.1 - 10 1759 c.1608C>T c.(1606-1608)atC>atT p.I536I BTBD9_ENST00000408958.1_Silent_p.I468I|BTBD9_ENST00000314100.6_Silent_p.I468I|BTBD9_ENST00000419706.2_Silent_p.I506I|BTBD9_ENST00000403056.1_Silent_p.I536I NM_001099272.1|NM_052893.1 NP_001092742.1|NP_443125.1 Q96Q07 BTBD9_HUMAN BTB (POZ) domain containing 9 536 cell adhesion breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1) 12 CAACGATACGGATGAAGGAGG 0.463000 12 48 0 0 0.003163 0 0 USP28 57646 broad.mit.edu 37 11 113700029 113700029 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:113700029G>A ENST00000003302.4 - 10 1017 c.949C>T c.(949-951)Cct>Tct p.P317S USP28_ENST00000537706.1_Missense_Mutation_p.P317S|USP28_ENST00000544967.1_Missense_Mutation_p.P25S|USP28_ENST00000545540.1_Missense_Mutation_p.P192S|USP28_ENST00000260188.5_Missense_Mutation_p.P317S NM_020886.2 NP_065937.1 Q96RU2 UBP28_HUMAN ubiquitin specific peptidase 28 317 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ACCTGAAGAGGATACTGGCCG 0.443000 19 25 0 0 0.008871 0 0 LOXL3 84695 broad.mit.edu 37 2 74763204 74763204 + Missense_Mutation SNP C C G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:74763204C>G ENST00000264094.3 - 7 1238 c.1167G>C c.(1165-1167)aaG>aaC p.K389N LOXL3_ENST00000409986.1_Missense_Mutation_p.K244N|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Missense_Mutation_p.K244N|LOXL3_ENST00000409549.1_Missense_Mutation_p.K389N NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 389 SRCR 3. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 CTGTGATGTTCTTGTGGGGGC 0.567000 32 63 0 0 0.002445 0 0 ACOX2 8309 broad.mit.edu 37 3 58519835 58519835 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:58519835C>T ENST00000302819.5 - 4 652 c.361G>A c.(361-363)Gtc>Atc p.V121I ACOX2_ENST00000459701.2_Missense_Mutation_p.V121I NM_003500.3 NP_003491.1 Q99424 ACOX2_HUMAN acyl-CoA oxidase 2, branched chain 121 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) CTCACGAAGACTCTGTGTATA 0.537000 19 50 0 0 0.001882 0 0 DCSTAMP 81501 broad.mit.edu 37 8 105361650 105361650 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:105361650G>A ENST00000297581.2 + 2 919 c.870G>A c.(868-870)agG>agA p.R290R DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron NM_030788.3 NP_110415.1 Q9H295 TM7S4_HUMAN dendrocyte expressed seven transmembrane protein 290 osteoclast differentiation cell surface|integral to membrane|plasma membrane CTAAAGAAAGGAAAAACCTGG 0.493000 24 56 0 0 0.003954 0 0 TTPA 7274 broad.mit.edu 37 8 63978529 63978529 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:63978529A>G ENST00000260116.4 - 3 517 c.486T>C c.(484-486)ggT>ggC p.G162G TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN tocopherol (alpha) transfer protein 162 CRAL-TRIO. lipid metabolic process transporter activity|vitamin E binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8) 15 Breast(64;0.0716) all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123) Vitamin E(DB00163) AAAACTGCCAACCTTCCAGAT 0.398000 6 16 0 0 0.001984 0 0 VN1R2 317701 broad.mit.edu 37 19 53762620 53762620 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:53762620C>T ENST00000341702.3 + 1 1076 c.992C>T c.(991-993)tCc>tTc p.S331F VN1R2_ENST00000598458.1_Intron NM_173856.2 NP_776255.2 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 331 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) TACGCCCTTTCCTTCATCACC 0.448000 32 92 0 0 0.002096 0 0 PADI3 51702 broad.mit.edu 37 1 17601233 17601233 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:17601233G>A ENST00000375460.3 + 11 1299 c.1259G>A c.(1258-1260)gGg>gAg p.G420E NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 420 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GTGGCCAATGGGAAAGAGTAC 0.607000 OREG0013148 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 24 0 0 0.006122 0 0 UBE2V2 7336 broad.mit.edu 37 8 48962468 48962468 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:48962468C>T ENST00000523111.2 + 3 276 c.221C>T c.(220-222)cCa>cTa p.P74L UBE2V2_ENST00000517630.1_Missense_Mutation_p.P34L|UBE2V2_ENST00000521346.1_Missense_Mutation_p.P34L|UBE2V2_ENST00000520809.1_Missense_Mutation_p.P34L NM_003350.2 NP_003341.1 Q15819 UB2V2_HUMAN ubiquitin-conjugating enzyme E2 variant 2 74 cell proliferation|DNA double-strand break processing|protein polyubiquitination|regulation of DNA repair cytoplasm|nucleus|UBC13-MMS2 complex acid-amino acid ligase activity|protein binding large_intestine(1)|lung(2) 3 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00171)|all_lung(136;0.00196) CCTAAATACCCAGAAGCTCCT 0.299000 Rad6 pathway 4 23 0 0 0.009096 0 0 OR5H1 26341 broad.mit.edu 37 3 97851821 97851821 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:97851821C>T ENST00000354565.2 + 1 280 c.280C>T c.(280-282)Ctc>Ttc p.L94F RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GATGATATCTCTCTCTGAATG 0.398000 29 76 0 0 0.004878 0 0 OR51I1 390063 broad.mit.edu 37 11 5462528 5462528 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:5462528G>A ENST00000380211.1 - 1 216 c.217C>T c.(217-219)Ctg>Ttg p.L73L HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001005288.2 NP_001005288.1 Q9H343 O51I1_HUMAN olfactory receptor, family 51, subfamily I, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACACTCCCAGATCATTGAGA 0.463000 23 27 0 0 0.002299 0 0 P4HA3 283208 broad.mit.edu 37 11 73990439 73990439 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:73990439C>T ENST00000331597.4 - 8 1214 c.1169G>A c.(1168-1170)aGc>aAc p.S390N P4HA3_ENST00000427714.2_Missense_Mutation_p.S390N NM_182904.3 NP_878907.1 Q7Z4N8 P4HA3_HUMAN prolyl 4-hydroxylase, alpha polypeptide III 390 endoplasmic reticulum lumen iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1) 15 Breast(11;2.31e-05) TTACCTTTTGCTGATGCGGTA 0.537000 34 79 0 0 0.004878 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671283 112671283 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:112671283G>A ENST00000441065.2 + 3 685 c.373G>A c.(373-375)Gat>Aat p.D125N RP11-506B6.6_ENST00000587816.1_RNA NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 125 B30.2/SPRY. zinc ion binding p.D125Y(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GATCCACCACGATCTGACAAA 0.542000 9 49 0 0 0.000978 0 0 SNX33 257364 broad.mit.edu 37 15 75949417 75949417 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:75949417C>T ENST00000308527.5 + 2 2783 c.1586C>T c.(1585-1587)gCc>gTc p.A529V NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 529 BAR. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GCCCTGCAGGCCGAGATGAAC 0.627000 19 33 0 0 0.010504 0 0 TRIM51HP 440041 broad.mit.edu 37 11 55065005 55065005 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:55065005C>T ENST00000526016.1 - 0 420 NR_038174.2 CTGAGATTTTCACAAGCTTTT 0.398000 5 19 0 0 0.001984 0 0 MRO 83876 broad.mit.edu 37 18 48326495 48326495 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:48326495G>A ENST00000428869.2 - 8 862 c.604C>T c.(604-606)Caa>Taa p.Q202* MRO_ENST00000436348.2_Nonsense_Mutation_p.Q216*|MRO_ENST00000431965.2_Nonsense_Mutation_p.Q164*|MRO_ENST00000588444.1_Nonsense_Mutation_p.Q150*|MRO_ENST00000398439.3_Nonsense_Mutation_p.Q202*|MRO_ENST00000256425.2_Nonsense_Mutation_p.Q202*|MRO_ENST00000587291.1_5'UTR Q9BYG7 MSTRO_HUMAN maestro 202 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) GAACAGGCTTGAAATGTTGTT 0.393000 17 33 0 0 0.004007 0 0 CUBN 8029 broad.mit.edu 37 10 17083048 17083048 + Missense_Mutation SNP G G T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:17083048G>T ENST00000377833.4 - 27 4066 c.4001C>A c.(4000-4002)tCc>tAc p.S1334Y NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1334 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATAATCTGTGGAGCAGTTTAT 0.378000 13 43 2.61681e-11 2.6948e-11 0.002450 1 0 SCAF8 22828 broad.mit.edu 37 6 155141449 155141449 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:155141449C>T ENST00000367178.3 + 15 2350 c.1774C>T c.(1774-1776)Cag>Tag p.Q592* SCAF8_ENST00000367186.4_Nonsense_Mutation_p.Q658*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.Q592* NM_014892.3 NP_055707.3 Q9UPN6 SCAF8_HUMAN SR-related CTD-associated factor 8 592 mRNA processing|RNA splicing nuclear matrix|spliceosomal complex nucleotide binding|RNA binding|RNA polymerase core enzyme binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 46 CATGATTGATCAGGAGACTGT 0.368000 12 31 0 0 0.001368 0 0 RFPL3 10738 broad.mit.edu 37 22 32756464 32756464 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:32756464C>T ENST00000249007.4 + 2 804 c.599C>T c.(598-600)tCt>tTt p.S200F RFPL3_ENST00000397468.1_Missense_Mutation_p.S171F|RFPL3_ENST00000382088.3_Missense_Mutation_p.S171F|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR NM_001098535.1 NP_001092005.1 O75679 RFPL3_HUMAN ret finger protein-like 3 200 B30.2/SPRY. zinc ion binding cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 15 TGCAGAGAATCTGTTCACTGC 0.582000 21 52 0 0 0.008871 0 0 DNAH8 1769 broad.mit.edu 37 6 38805726 38805726 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38805726C>T ENST00000359357.3 + 31 3977 c.3723C>T c.(3721-3723)ttC>ttT p.F1241F DNAH8_ENST00000441566.1_Silent_p.F1241F|DNAH8_ENST00000449981.2_Silent_p.F1458F dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AGGCCAGTTTCGATGATCTGT 0.323000 9 20 0 0 0.004482 0 0 ATG9B 285973 broad.mit.edu 37 7 150718281 150718281 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150718281G>A ENST00000444312.1 - 5 1032 c.170C>T c.(169-171)tCc>tTc p.S57F ATG9B_ENST00000377974.2_Silent_p.I319I|ATG9B_ENST00000605952.1_Silent_p.I319I|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000605938.1_Silent_p.I319I Q674R7 ATG9B_HUMAN autophagy related 9B 571 Pro-rich. autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1) 14 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCACCGGGGGGATGTGCAGGG 0.617000 25 62 0 0 0.007291 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147092827 147092827 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:147092827G>A ENST00000361727.3 + 10 2141 c.1625G>A c.(1624-1626)gGa>gAa p.G542E NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 542 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGGAAGCCGGGAAGTTTCGCG 0.438000 HNSCC(39;0.1) 17 47 0 0 0.007413 0 0 TTYH2 94015 broad.mit.edu 37 17 72248397 72248397 + Missense_Mutation SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:72248397A>T ENST00000441391.2 + 5 1390 c.178A>T c.(178-180)Atc>Ttc p.I60F TTYH2_ENST00000529107.1_Missense_Mutation_p.I360F|TTYH2_ENST00000269346.4_Missense_Mutation_p.I381F NM_052869.1 NP_443101.1 Q9BSA4 TTYH2_HUMAN tweety family member 2 381 chloride channel complex|plasma membrane chloride channel activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1) 36 TCTTGCTGGCATCTGCTACGA 0.622000 43 48 0 0 0.003214 0 0 GRIN2A 2903 broad.mit.edu 37 16 9858604 9858604 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:9858604C>T ENST00000396573.2 - 14 3106 c.2797G>A c.(2797-2799)Gac>Aac p.D933N GRIN2A_ENST00000535259.1_Missense_Mutation_p.D776N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D933N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D933N|GRIN2A_ENST00000562109.1_Missense_Mutation_p.D933N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D933N NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 933 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAACCATGTCCATGATGAGG 0.438000 36 69 0 0 0.004289 0 0 VPS13A 23230 broad.mit.edu 37 9 79936611 79936611 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:79936611C>T ENST00000360280.3 + 44 6039 c.5779C>T c.(5779-5781)Cat>Tat p.H1927Y VPS13A_ENST00000376636.3_Missense_Mutation_p.H1888Y|VPS13A_ENST00000376634.4_Missense_Mutation_p.H1927Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.H1927Y NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1927 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGACAATGATCATTTCAATGC 0.328000 10 34 0 0 0.008291 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30791851 30791851 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:30791851G>A ENST00000458257.1 + 1 99 c.85G>A c.(85-87)Ggc>Agc p.G29S INMT_ENST00000484180.1_Intron|INMT_ENST00000013222.5_Missense_Mutation_p.G29S|INMT_ENST00000409539.1_Missense_Mutation_p.G29S CAGCTTCGATGGCAGCCCCTC 0.567000 27 65 0 0 0.004656 0 0 MAGEC3 139081 broad.mit.edu 37 X 140983092 140983092 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chrX:140983092C>A ENST00000298296.1 + 5 947 c.947C>A c.(946-948)tCc>tAc p.S316Y MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.S68Y|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 316 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GATGTGCTTTCCCGACTTGCA 0.597000 24 27 6.50621e-10 6.6824e-10 0.002836 1 0 CAMSAP1 157922 broad.mit.edu 37 9 138713205 138713205 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:138713205G>A ENST00000389532.4 - 11 3366 c.3302C>T c.(3301-3303)tCc>tTc p.S1101F CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.S1112F|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.S823F NM_015447.3 NP_056262.3 Q5T5Y3 CAMP1_HUMAN calmodulin regulated spectrin-associated protein 1 1101 cytoplasm|microtubule breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1) 47 OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05) CGGCCTTCCGGAACGGGAATT 0.637000 14 43 0 0 0.001855 0 0 SCD5 79966 broad.mit.edu 37 4 83601897 83601897 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:83601897C>T ENST00000319540.4 - 3 851 c.532G>A c.(532-534)Gac>Aac p.D178N SCD5_ENST00000273908.4_Missense_Mutation_p.D178N NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 178 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) GCAAGCAGGTCAGTGACGTCA 0.532000 18 39 0 0 0.006122 0 0 MEP1A 4224 broad.mit.edu 37 6 46794105 46794105 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:46794105C>T ENST00000230588.4 + 9 802 c.793C>T c.(793-795)Ctt>Ttt p.L265F NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 265 MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AACTCACACTCTTTTGGACCA 0.418000 13 45 0 0 0.001855 0 0 NOBOX 135935 broad.mit.edu 37 7 144098513 144098513 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:144098513C>T ENST00000467773.1 - 4 469 c.470G>A c.(469-471)aGa>aAa p.R157K NOBOX_ENST00000223140.5_Missense_Mutation_p.R72K|NOBOX_ENST00000483238.1_Missense_Mutation_p.R157K NM_001080413.3 NP_001073882.3 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 157 cell differentiation|oogenesis nucleus sequence-specific DNA binding NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1) 26 Melanoma(164;0.14) CGGGCACAGTCTCCCAGCATC 0.637000 14 33 0 0 0.002450 0 0 SACS 26278 broad.mit.edu 37 13 23904967 23904967 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:23904967C>T ENST00000382298.3 - 10 13636 c.13048G>A c.(13048-13050)Gaa>Aaa p.E4350K SACS_ENST00000402364.1_Missense_Mutation_p.E3600K|SACS_ENST00000382292.3_Missense_Mutation_p.E4350K NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4350 J. cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTAAAAACTTCATTGGCAATG 0.383000 23 36 0 0 0.002299 0 0 FAM50B 26240 broad.mit.edu 37 6 3850849 3850849 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:3850849C>T ENST00000380274.1 + 1 1230 c.804C>T c.(802-804)ttC>ttT p.F268F FAM50B_ENST00000380272.3_Silent_p.F268F Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 268 nucleus cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3) 17 Ovarian(93;0.0925) all_hematologic(90;0.108) TCTTCAGCTTCGATGTGCACG 0.607000 11 46 0 0 0.008291 0 0 CYP2C8 1558 broad.mit.edu 37 10 96829107 96829107 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:96829107G>A ENST00000371270.3 - 1 147 c.53C>T c.(52-54)tCa>tTa p.S18L CYP2C8_ENST00000539050.1_5'UTR|CYP2C8_ENST00000535898.1_5'UTR NM_000770.3|NM_001198853.1|NM_001198855.1 NP_000761.3|NP_001185782.1|NP_001185784.1 P10632 CP2C8_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 8 18 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) TCTCCAGAGTGAAAAGAGAAG 0.458000 9 11 0 0 0.008291 0 0 BLVRA 644 broad.mit.edu 37 7 43832342 43832342 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:43832342C>T ENST00000402924.1 + 6 446 c.283C>T c.(283-285)Ctt>Ttt p.L95F BLVRA_ENST00000265523.4_Missense_Mutation_p.L95F NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 95 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) CAAGCACGTCCTTGTGGAATA 0.468000 8 24 0 0 0.006214 0 0 STAB2 55576 broad.mit.edu 37 12 104102255 104102255 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:104102255C>T ENST00000388887.2 + 39 4433 c.4229C>T c.(4228-4230)cCc>cTc p.P1410L NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1410 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AACCAAGGACCCTTGGGAGAT 0.458000 32 63 0 0 0.003271 0 0 ACKR2 1238 broad.mit.edu 37 3 42906687 42906687 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:42906687C>T ENST00000422265.1 + 3 868 c.693C>T c.(691-693)tcC>tcT p.S231S ACKR2_ENST00000442925.1_Silent_p.S231S|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000273145.2_Silent_p.S231S|ACKR2_ENST00000471537.1_Intron NM_001296.4 NP_001287.2 atypical chemokine receptor 2 TCTTCTACTCCCGTATTGGTT 0.557000 34 95 0 0 0.003755 0 0 DDX17 10521 broad.mit.edu 37 22 38902171 38902171 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:38902171C>T ENST00000396821.3 - 1 171 c.72G>A c.(70-72)gtG>gtA p.V24V DDX17_ENST00000381633.3_5'UTR|DDX17_ENST00000432525.1_Intron NM_001098504.1|NM_006386.4 NP_001091974.1|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 0 Poly-Gly. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) TCGCAGACGCCACCGTCGCCG 0.697000 4 6 0 0 0.009096 0 0 GALNT8 26290 broad.mit.edu 37 12 4870183 4870183 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:4870183G>A ENST00000252318.2 + 7 1570 c.1233G>A c.(1231-1233)gaG>gaA p.E411E NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 411 Catalytic subdomain B. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CCCACCTAGAGAGACACCACA 0.547000 19 33 0 0 0.008871 0 0 PTPRT 11122 broad.mit.edu 37 20 40733211 40733211 + Nonsense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr20:40733211G>A ENST00000373198.3 - 26 3839 c.3604C>T c.(3604-3606)Cag>Tag p.Q1202* PTPRT_ENST00000356100.2_Nonsense_Mutation_p.Q1189*|PTPRT_ENST00000373201.1_Nonsense_Mutation_p.Q1170*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.Q1190*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.Q1183*|PTPRT_ENST00000373187.1_Nonsense_Mutation_p.Q1180*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.Q1179* NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1180 Tyrosine-protein phosphatase 2. 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.Q1202K(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) GCTCATACCTGAAATTCATCT 0.443000 19 42 0 0 0.008871 0 0 GABRA1 2554 broad.mit.edu 37 5 161302643 161302643 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:161302643G>A ENST00000428797.2 + 7 909 c.554G>A c.(553-555)gGa>gAa p.G185E GABRA1_ENST00000437025.2_Missense_Mutation_p.G185E|GABRA1_ENST00000444819.1_Missense_Mutation_p.G185E|GABRA1_ENST00000393943.4_Missense_Mutation_p.G185E|GABRA1_ENST00000023897.6_Missense_Mutation_p.G185E|GABRA1_ENST00000420560.1_Missense_Mutation_p.G185E NM_001127643.1 NP_001121115.1 P14867 GBRA1_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 1 185 gamma-aminobutyric acid signaling pathway|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 NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1) 42 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.228) Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425) CTAAAATTTGGAAGTTGTGAG 0.393000 12 40 0 0 0.003163 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528560 65528560 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:65528560G>A ENST00000310193.3 - 3 711 c.538C>T c.(538-540)Ctg>Ttg p.L180L NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 180 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AATGGATACAGTTCTGCCGTG 0.353000 14 24 0 0 0.003163 0 0 CDCP1 64866 broad.mit.edu 37 3 45127293 45127293 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:45127293G>A ENST00000296129.1 - 9 2482 c.2348C>T c.(2347-2349)gCc>gTc p.A783V NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 783 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TGCAGTTGGGGCCCTGGAGCA 0.622000 14 42 0 0 0.002450 0 0 ACSM1 116285 broad.mit.edu 37 16 20673121 20673121 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:20673121G>A ENST00000307493.4 - 6 1054 c.987C>T c.(985-987)ttC>ttT p.F329F ACSM1_ENST00000520010.1_Silent_p.F329F|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 329 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 CATACCTGGTGAAATCCTGCT 0.388000 8 21 0 0 0.008291 0 0 STAC 6769 broad.mit.edu 37 3 36484998 36484998 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:36484998C>T ENST00000273183.3 + 2 554 c.254C>T c.(253-255)cCa>cTa p.P85L STAC_ENST00000457375.2_Missense_Mutation_p.P85L|STAC_ENST00000476388.1_3'UTR NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 85 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 AGCTCCAGCCCACTCCCTGCT 0.562000 20 42 0 0 0.008871 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116064521 116064521 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:116064521G>A ENST00000369271.3 - 11 1541 c.1241C>T c.(1240-1242)tCc>tTc p.S414F AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S414F|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S467F NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 414 PH 2. 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) GATGCGGAAGGAGTAGAGGTG 0.682000 3 14 0 0 0.004672 0 0 OR2M5 127059 broad.mit.edu 37 1 248308892 248308892 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:248308892C>T ENST00000366476.1 + 1 443 c.443C>T c.(442-444)tCc>tTc p.S148F NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ACTGCCTTCTCCTGGATCCTG 0.458000 40 137 0 0 0.006230 0 0 OR6Y1 391112 broad.mit.edu 37 1 158517495 158517495 + Missense_Mutation SNP G G C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:158517495G>C ENST00000302617.3 - 1 400 c.401C>G c.(400-402)cCa>cGa p.P134R NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GTAGCGTAGTGGATTACAAAT 0.468000 10 22 0 0 0.008291 0 0 CASR 846 broad.mit.edu 37 3 121980978 121980978 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:121980978G>A ENST00000498619.1 + 4 1534 c.1096G>A c.(1096-1098)Gga>Aga p.G366R CASR_ENST00000490131.1_Missense_Mutation_p.G366R|CASR_ENST00000296154.5_Missense_Mutation_p.G366R NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 366 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) AGGTGCAAAAGGACCTTTACC 0.498000 6 29 0 0 0.003080 0 0 MIR382 494331 broad.mit.edu 37 14 101520714 101520714 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:101520714C>T ENST00000385009.2 - 0 9 NR_029874.1 ACACTTTTTTCAGTACCAAAT 0.433000 3 9 0 0 0.004672 0 0 SCN2A 6326 broad.mit.edu 37 2 166245738 166245738 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:166245738G>A ENST00000375437.2 + 27 5712 c.5422G>A c.(5422-5424)Gat>Aat p.D1808N SCN2A_ENST00000375427.2_Missense_Mutation_p.D1808N|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1808N|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1808N NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1808 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTTTGATCCCGATGCGACCCA 0.458000 25 48 0 0 0.004656 0 0 MCAM 4162 broad.mit.edu 37 11 119182038 119182038 + Missense_Mutation SNP C C A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:119182038C>A ENST00000392814.1 - 7 2077 c.1348G>T c.(1348-1350)Gcc>Tcc p.A450S MCAM_ENST00000264036.4_Missense_Mutation_p.A501S P43121 MUC18_HUMAN melanoma cell adhesion molecule 501 Ig-like C2-type 3. anatomical structure morphogenesis|cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1) 22 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) TCGTTGGAGGCCGTGCATTCA 0.617000 8 23 1.12685e-05 1.15356e-05 0.004482 1 0 CDCA2 157313 broad.mit.edu 37 8 25343351 25343351 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:25343351C>T ENST00000330560.3 + 11 1919 c.1442C>T c.(1441-1443)tCa>tTa p.S481L CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.S466L NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 481 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GAGACCCTTTCAGGTAGTAAC 0.279000 8 18 0 0 0.004482 0 0 UNC13C 440279 broad.mit.edu 37 15 54305959 54305959 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:54305959G>A ENST00000545554.1 + 1 859 c.859G>A c.(859-861)Gaa>Aaa p.E287K UNC13C_ENST00000260323.11_Missense_Mutation_p.E287K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E287K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 287 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGTACAAAGTGAAATTGAGCA 0.458000 30 35 0 0 0.009535 0 0 CSMD1 64478 broad.mit.edu 37 8 3200886 3200886 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:3200886G>A ENST00000520002.1 - 24 4119 c.3564C>T c.(3562-3564)tcC>tcT p.S1188S CSMD1_ENST00000539096.1_Silent_p.S1187S|CSMD1_ENST00000537824.1_Silent_p.S1187S|CSMD1_ENST00000602723.1_Silent_p.S1188S|CSMD1_ENST00000602557.1_Silent_p.S1188S|CSMD1_ENST00000400186.3_Silent_p.S1188S|CSMD1_ENST00000542608.1_Silent_p.S1187S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1188 CUB 7. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACAGGTGATTGGATGTGCTGT 0.428000 15 29 0 0 0.003163 0 0 FPR3 2359 broad.mit.edu 37 19 52327323 52327323 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:52327323A>G ENST00000339223.4 + 2 501 c.322A>G c.(322-324)Aac>Gac p.N108D FPR3_ENST00000595991.1_Missense_Mutation_p.N108D NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 108 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 GATAGACATCAACCTGTTTGT 0.478000 14 24 0 0 0.001855 0 0 OPRK1 4986 broad.mit.edu 37 8 54142134 54142134 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:54142134G>A ENST00000265572.3 - 4 1163 c.866C>T c.(865-867)cCc>cTc p.P289L OPRK1_ENST00000520287.1_Missense_Mutation_p.P289L|OPRK1_ENST00000524278.1_Missense_Mutation_p.P200L|RP11-162D9.3_ENST00000524425.1_RNA NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 289 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TATGTGAATGGGAGTCCAGCA 0.567000 8 19 0 0 0.004482 0 0 CABS1 85438 broad.mit.edu 37 4 71201035 71201035 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:71201035G>A ENST00000273936.4 + 1 338 c.279G>A c.(277-279)caG>caA p.Q93Q NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium-binding protein, spermatid-specific 1 93 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CTCACCTACAGAAAGAAATTA 0.373000 18 24 0 0 0.008871 0 0 IL2RB 3560 broad.mit.edu 37 22 37524807 37524807 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:37524807C>T ENST00000216223.5 - 10 1183 c.985G>A c.(985-987)Gag>Aag p.E329K NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 329 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) TTGTCCCTCTCCAGCACTTCT 0.612000 21 31 0 0 0.002299 0 0 DZIP1 22873 broad.mit.edu 37 13 96274644 96274644 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:96274644G>A ENST00000347108.3 - 7 1495 c.1063C>T c.(1063-1065)Cca>Tca p.P355S DZIP1_ENST00000361156.3_Missense_Mutation_p.P355S|DZIP1_ENST00000376829.2_Missense_Mutation_p.P355S|DZIP1_ENST00000361396.2_Missense_Mutation_p.P355S Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 355 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) TGGGGATATGGAGAACGGTCT 0.423000 15 34 0 0 0.003163 0 0 CIT 11113 broad.mit.edu 37 12 120196473 120196473 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:120196473G>A ENST00000392521.2 - 21 2508 c.2453C>T c.(2452-2454)tCc>tTc p.S818F CIT_ENST00000261833.7_Missense_Mutation_p.S776F|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 776 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CTGTTCCAGGGATCTGATCTT 0.448000 23 67 0 0 0.005443 0 0 SERPINB11 89778 broad.mit.edu 37 18 61377503 61377503 + RNA SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:61377503G>A ENST00000544088.1 + 0 138 SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) CAACATAGGAGATAACATCTT 0.448000 6 18 0 0 0.001984 0 0 ZHX1 11244 broad.mit.edu 37 8 124267362 124267362 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:124267362C>T ENST00000395571.3 - 3 1442 c.825G>A c.(823-825)ttG>ttA p.L275L ZHX1_ENST00000522655.1_Silent_p.L275L|ZHX1_ENST00000297857.2_Silent_p.L275L|ZHX1-C8ORF76_ENST00000357082.4_Intron NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 275 Required for dimerization.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CTTTGGGAATCAAATTAGAAT 0.438000 38 56 0 0 0.004878 0 0 LILRB1 10859 broad.mit.edu 37 19 55143633 55143633 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:55143633G>A ENST00000396331.1 + 6 963 c.606G>A c.(604-606)tcG>tcA p.S202S LILRB1_ENST00000396321.2_Silent_p.S202S|LILRB1_ENST00000448689.1_Silent_p.S202S|LILRB1_ENST00000324602.7_Silent_p.S202S|LILRB1_ENST00000396327.3_Silent_p.S202S|LILRB1_ENST00000396332.4_Silent_p.S202S|LILRB1_ENST00000427581.2_Silent_p.S238S|LILRB1_ENST00000434867.2_Silent_p.S202S|LILRB1_ENST00000418536.2_Silent_p.S202S|LILRB1_ENST00000396315.1_Silent_p.S202S|LILRB1_ENST00000396317.1_Silent_p.S202S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 202 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CTTATGACTCGAACTCTCCCT 0.602000 HNSCC(37;0.09) 27 69 0 0 0.008361 0 0 MS4A2 2206 broad.mit.edu 37 11 59861027 59861027 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:59861027C>T ENST00000278888.3 + 5 635 c.533C>T c.(532-534)tCc>tTc p.S178F NM_000139.4 NP_000130.1 Q01362 FCERB_HUMAN membrane-spanning 4-domains, subfamily A, member 2 178 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) GCTTCCTTTTCCACTGTATGT 0.408000 12 34 0 0 0.001368 0 0 SYNGR1 9145 broad.mit.edu 37 22 39777762 39777762 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr22:39777762C>T ENST00000328933.5 + 4 560 c.545C>T c.(544-546)tCc>tTc p.S182F NM_004711.4 NP_004702.2 synaptogyrin 1 endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1) 7 Melanoma(58;0.04) GCCCTCTTCTCCCAGGACTAC 0.687000 18 43 0 0 0.001882 0 0 DNAH2 146754 broad.mit.edu 37 17 7680855 7680855 + Missense_Mutation SNP T T C rs147602777 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:7680855T>C ENST00000572933.1 + 33 6610 c.5150T>C c.(5149-5151)aTt>aCt p.I1717T DNAH2_ENST00000389173.2_Missense_Mutation_p.I1717T Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1717 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACGATAGAAATTCATGCCCGG 0.478000 106 228 0 0 0.003610 0 0 ZNF799 90576 broad.mit.edu 37 19 12502346 12502346 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:12502346G>A ENST00000419318.1 - 4 1519 c.770C>T c.(769-771)gCc>gTc p.A257V CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.A289V Q96GE5 ZN799_HUMAN zinc finger protein 799 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 AGCACTGAAGGCTTTCCCACA 0.428000 23 53 0 0 0.001882 0 0 MLIP 90523 broad.mit.edu 37 6 54025203 54025203 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:54025203G>A ENST00000514921.1 + 6 2408 c.2295G>A c.(2293-2295)aaG>aaA p.K765K MLIP_ENST00000509997.1_Intron|MLIP_ENST00000274897.5_Silent_p.K241K|MLIP_ENST00000502396.1_Silent_p.K776K|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Silent_p.K165K Q5VWP3 MLIP_HUMAN muscular LMNA-interacting protein 241 nuclear envelope|PML body protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 GTGTCTCCAAGGACAACACAT 0.403000 5 11 0 0 0.000602 0 0 DCT 1638 broad.mit.edu 37 13 95092305 95092305 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:95092305C>T ENST00000377028.5 - 8 1820 c.1407G>A c.(1405-1407)tgG>tgA p.W469* DCT_ENST00000446125.1_Nonsense_Mutation_p.W502* NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 469 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) GAGTTGTGGGCCAACCTGGAG 0.408000 8 19 0 0 0.006214 0 0 PIEZO2 63895 broad.mit.edu 37 18 10675266 10675266 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:10675266G>A ENST00000302079.6 - 49 7572 c.7573C>T c.(7573-7575)Cca>Tca p.P2525S PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2613S|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P380S|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2588S|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P545S Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2588 integral to membrane ion channel activity ACATAATATGGATAAATCTTT 0.274000 22 40 0 0 0.003330 0 0 ABR 29 broad.mit.edu 37 17 1012282 1012282 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:1012282G>A ENST00000291107.2 - 1 58 c.27C>T c.(25-27)ggC>ggT p.G9G ABR_ENST00000544583.2_Intron|ABR_ENST00000574437.1_Intron|ABR_ENST00000302538.5_Intron NM_001092.4 NP_001083.2 Q12979 ABR_HUMAN active BCR-related 0 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TGTCCAGCAAGCCTATCGCCT 0.682000 5 8 0 0 0.001168 0 0 OR11H12 440153 broad.mit.edu 37 14 19377829 19377829 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:19377829G>A ENST00000550708.1 + 1 308 c.236G>A c.(235-237)gGa>gAa p.G79E NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATGTTCCTGGGAAATTTCTCC 0.413000 24 43 0 0 0.008361 0 0 EMB 133418 broad.mit.edu 37 5 49701641 49701641 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:49701641C>T ENST00000303221.5 - 5 733 c.518G>A c.(517-519)gGg>gAg p.G173E EMB_ENST00000514111.1_Missense_Mutation_p.G123E|EMB_ENST00000508934.1_Missense_Mutation_p.G119E|EMB_ENST00000506190.1_5'UTR NM_198449.2 NP_940851.1 Q6PCB8 EMB_HUMAN embigin 173 Ig-like V-type 2. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AGTAGAATCCCCTACGTAAGA 0.353000 13 22 0 0 0.001855 0 0 OR5H6 79295 broad.mit.edu 37 3 97983363 97983363 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:97983363C>T ENST00000383696.2 + 1 276 c.235C>T c.(235-237)Ctt>Ttt p.L79F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 GTACTTATTCCTTGGGAGTTT 0.413000 41 66 0 0 0.008740 0 0 MPC2 25874 broad.mit.edu 37 1 167889227 167889227 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:167889227G>A ENST00000367846.4 - 4 535 c.337C>T c.(337-339)Cgt>Tgt p.R113C MPC2_ENST00000271373.4_Missense_Mutation_p.R113C NM_015415.3 NP_056230.1 mitochondrial pyruvate carrier 2 CTCCAAATACGAAAAAGCTGA 0.378000 13 38 0 0 0.002450 0 0 PTDSS1 9791 broad.mit.edu 37 8 97332525 97332525 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:97332525C>T ENST00000517309.1 + 10 1451 c.1125C>T c.(1123-1125)ctC>ctT p.L375L PTDSS1_ENST00000522072.1_Silent_p.L172L|PTDSS1_ENST00000455950.2_Silent_p.L229L NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 375 phosphatidylserine biosynthetic process integral to membrane transferase activity endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GACAAGATCTCTTCTCTAAGA 0.398000 20 74 0 0 0.008871 0 0 ACOX3 8310 broad.mit.edu 37 4 8375329 8375329 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:8375329C>T ENST00000356406.5 - 16 1932 c.1855G>A c.(1855-1857)Gga>Aga p.G619R ACOX3_ENST00000515797.1_5'UTR|ACOX3_ENST00000413009.2_Intron|ACOX3_ENST00000503233.1_Missense_Mutation_p.G619R NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 619 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 AACACTTCTCCCGCCTGCTCA 0.597000 4 11 0 0 0.000602 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503114 140503114 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140503114C>T ENST00000194152.1 + 1 1534 c.1534C>T c.(1534-1536)Ctg>Ttg p.L512L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 512 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACGGCCACCTGTTCGCCCT 0.692000 22 87 0 0 0.003271 0 0 SOGA3 387104 broad.mit.edu 37 6 127796711 127796711 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:127796711C>T ENST00000556132.1 - 6 3324 c.2460G>A c.(2458-2460)tcG>tcA p.S820S SOGA3_ENST00000465909.2_Silent_p.S820S|SOGA3_ENST00000368268.2_Silent_p.S820S|SOGA3_ENST00000481848.2_Silent_p.S820S|SOGA3_ENST00000525778.1_Silent_p.S820S|SOGA3_ENST00000474293.2_5'UTR NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 820 integral to membrane GCTCGGCCTCCGAGCGGATGT 0.672000 33 107 0 0 0.003755 0 0 MAD1L1 8379 broad.mit.edu 37 7 2260644 2260644 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:2260644T>A ENST00000402746.1 - 3 267 c.70A>T c.(70-72)Acg>Tcg p.T24S MAD1L1_ENST00000399654.2_Intron|MAD1L1_ENST00000265854.7_Intron|MAD1L1_ENST00000406869.1_Intron Q9Y6D9 MD1L1_HUMAN MAD1 mitotic arrest deficient-like 1 (yeast) 0 cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5) 36 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) GTAAGGAGCGTGACAATCAGG 0.607000 9 16 0 0 0.006214 0 0 SAMD9 54809 broad.mit.edu 37 7 92735076 92735076 + Missense_Mutation SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:92735076T>C ENST00000379958.2 - 3 604 c.335A>G c.(334-336)cAa>cGa p.Q112R NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 112 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTTTTGTTTTTGCTTTGAAGT 0.383000 5 75 0 0 0.000602 0 0 HKR1 284459 broad.mit.edu 37 19 37853799 37853799 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:37853799C>T ENST00000591471.1 + 9 1924 c.283C>T c.(283-285)Ctg>Ttg p.L95L HKR1_ENST00000589392.1_Silent_p.L350L|HKR1_ENST00000392153.3_Silent_p.L349L|HKR1_ENST00000324411.4_Silent_p.L368L|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.L307L|HKR1_ENST00000544914.1_Silent_p.L95L P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 368 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GAGCTTTAGCCTGAAGTCAAA 0.532000 15 41 0 0 0.002450 0 0 WNT8A 7478 broad.mit.edu 37 5 137426367 137426367 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:137426367G>A ENST00000506684.1 + 5 951 c.715G>A c.(715-717)Gat>Aat p.D239N WNT8A_ENST00000398754.1_Missense_Mutation_p.D221N Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 221 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AATTGAAATGGATAAGCGGCA 0.567000 6 20 0 0 0.001168 0 0 NPAP1 23742 broad.mit.edu 37 15 24921643 24921643 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:24921643G>A ENST00000329468.2 + 1 1103 c.629G>A c.(628-630)gGa>gAa p.G210E NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTCTGGAGGGAAATGTCTAC 0.612000 7 32 0 0 0.003080 0 0 CACNA1A 773 broad.mit.edu 37 19 13365981 13365981 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:13365981G>A ENST00000360228.5 - 29 4682 c.4683C>T c.(4681-4683)ttC>ttT p.F1561F CACNA1A_ENST00000573710.2_Silent_p.F1562F NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1562 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding p.F1562F(3) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GAGACACCACGAACTGCCACA 0.587000 15 24 0 0 0.004007 0 0 MUSK 4593 broad.mit.edu 37 9 113496631 113496631 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:113496631C>T ENST00000416899.2 + 6 855 c.729C>T c.(727-729)atC>atT p.I243I MUSK_ENST00000189978.5_Silent_p.I243I|MUSK_ENST00000374448.4_Silent_p.I243I O15146 MUSK_HUMAN muscle, skeletal, receptor tyrosine kinase 243 Ig-like 3. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 49 TCCCCACCATCACCTGGATTG 0.507000 27 49 0 0 0.008361 0 0 SEC62 7095 broad.mit.edu 37 3 169710486 169710486 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:169710486A>G ENST00000337002.4 + 8 893 c.835A>G c.(835-837)Agg>Ggg p.R279G SEC62_ENST00000470355.1_3'UTR|SEC62_ENST00000480708.1_Missense_Mutation_p.R279G NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 279 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 TGACTCCTTCAGGCCTCTGTA 0.423000 22 49 0 0 0.003330 0 0 OR8D4 338662 broad.mit.edu 37 11 123778024 123778024 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:123778024G>A ENST00000321355.2 + 1 916 c.886G>A c.(886-888)Gaa>Aaa p.E296K NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) GAGGAACAATGAAGTAAGAAA 0.323000 11 21 0 0 0.001368 0 0 SLC7A13 157724 broad.mit.edu 37 8 87242503 87242503 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:87242503C>T ENST00000297524.3 - 1 107 c.4G>A c.(4-6)Gat>Aat p.D2N SLC7A13_ENST00000419776.2_Missense_Mutation_p.D2N|SLC7A13_ENST00000520624.1_Intron NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 2 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 TCCCCTCTATCCATTGTAATT 0.343000 13 24 0 0 0.003163 0 0 CPXM2 119587 broad.mit.edu 37 10 125530537 125530537 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:125530537C>T ENST00000241305.3 - 8 1151 c.997G>A c.(997-999)Gaa>Aaa p.E333K CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 333 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GGACACATTTCATTCACAACT 0.433000 55 71 0 0 0.003610 0 0 NNMT 4837 broad.mit.edu 37 11 114182969 114182969 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:114182969C>T ENST00000535401.1 + 5 829 c.565C>T c.(565-567)Cca>Tca p.P189S NNMT_ENST00000545255.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.P189S P40261 NNMT_HUMAN nicotinamide N-methyltransferase 189 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) CCTACTGAAGCCAGGGGGCTT 0.627000 13 45 0 0 0.002450 0 0 SLC24A2 25769 broad.mit.edu 37 9 19576974 19576974 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:19576974C>T ENST00000341998.2 - 5 1237 c.1176G>A c.(1174-1176)aaG>aaA p.K392K SLC24A2_ENST00000286344.3_Silent_p.K375K NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 392 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CATGACATTTCTTCTTGGCGA 0.507000 26 41 0 0 0.002096 0 0 DPPA2 151871 broad.mit.edu 37 3 109026926 109026926 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:109026926G>A ENST00000478945.1 - 6 857 c.611C>T c.(610-612)tCa>tTa p.S204L NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 204 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AATGGAACATGAATTCAAAGC 0.453000 5 39 0 0 0.000602 0 0 CDH7 1005 broad.mit.edu 37 18 63477090 63477090 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr18:63477090C>T ENST00000536984.2 + 3 1055 c.361C>T c.(361-363)Cga>Tga p.R121* CDH7_ENST00000397968.2_Nonsense_Mutation_p.R121*|CDH7_ENST00000323011.3_Nonsense_Mutation_p.R121* Q9ULB5 CADH7_HUMAN cadherin 7, type 2 121 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.R121*(2) NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 80 Esophageal squamous(42;0.129) CTACACGCTCCGAGCTCAAGC 0.488000 12 38 0 0 0.001368 0 0 PMFBP1 83449 broad.mit.edu 37 16 72184698 72184698 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr16:72184698G>A ENST00000537465.1 - 5 603 c.445C>T c.(445-447)Cac>Tac p.H149Y PMFBP1_ENST00000237353.10_Missense_Mutation_p.H149Y|PMFBP1_ENST00000355636.6_Missense_Mutation_p.H4Y Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 149 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCTCGTTGTGATTTCCCATT 0.502000 19 230 0 0 0.003954 0 0 KIF24 347240 broad.mit.edu 37 9 34306349 34306349 + Silent SNP T T C TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:34306349T>C ENST00000379166.2 - 3 833 c.714A>G c.(712-714)gtA>gtG p.V238V KIF24_ENST00000345050.2_Silent_p.V238V|KIF24_ENST00000402558.2_Silent_p.V238V|KIF24_ENST00000379174.3_Silent_p.V238V NM_194313.2 NP_919289.2 Q5T7B8 KIF24_HUMAN kinesin family member 24 238 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) CTCCACGACGTACCTCCCTCA 0.408000 50 138 0 0 0.003610 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51629369 51629369 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:51629369C>T ENST00000440804.3 + 3 799 c.732C>T c.(730-732)ttC>ttT p.F244F SIGLEC9_ENST00000250360.3_Silent_p.F244F NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 244 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) TGACTGTCTTCCAAGGAGACG 0.607000 11 31 0 0 0.001855 0 0 ARMC4 55130 broad.mit.edu 37 10 28284008 28284008 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:28284008C>T ENST00000305242.5 - 2 156 c.64G>A c.(64-66)Gaa>Aaa p.E22K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 22 binding p.E22K(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GGGGTGATTTCGAGGATTCCA 0.453000 10 28 0 0 0.001368 0 0 RPS11 6205 broad.mit.edu 37 19 50000830 50000830 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:50000830C>T ENST00000270625.2 + 3 284 c.201C>T c.(199-201)tcC>tcT p.S67S RPS11_ENST00000599561.1_Intron|RPS11_ENST00000596873.1_Silent_p.S67S|RPS11_ENST00000594493.1_5'UTR NM_001015.4 NP_001006.1 P62280 RS11_HUMAN ribosomal protein S11 67 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 7 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245) GTAATGTGTCCATTCGAGGGC 0.542000 13 41 0 0 0.001855 0 0 GPR55 9290 broad.mit.edu 37 2 231775585 231775585 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:231775585G>A ENST00000392040.1 - 2 285 c.93C>T c.(91-93)ttC>ttT p.F31F GPR55_ENST00000392039.2_Silent_p.F31F NM_005683.3 NP_005674.2 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 31 activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) GGCCCAGGACGAAGGTGGGGA 0.532000 20 35 0 0 0.010504 0 0 ADAM11 4185 broad.mit.edu 37 17 42848992 42848992 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:42848992G>A ENST00000200557.6 + 5 591 c.422G>A c.(421-423)gGg>gAg p.G141E ADAM11_ENST00000535346.1_5'UTR NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 141 integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) AAGCTCCGGGGGAACCCGCAC 0.687000 27 84 0 0 0.002096 0 0 ANO9 338440 broad.mit.edu 37 11 420587 420587 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:420587G>A ENST00000332826.6 - 19 1746 c.1662C>T c.(1660-1662)ttC>ttT p.F554F NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 554 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 AGGCGGCCACGAAGATGGTGG 0.692000 6 13 0 0 0.001984 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37734739 37734739 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:37734739G>A ENST00000330843.4 - 2 714 c.702C>T c.(700-702)tcC>tcT p.S234S RAB11FIP1_ENST00000287263.4_Silent_p.S234S|RAB11FIP1_ENST00000522727.1_Silent_p.S86S|RAB11FIP1_ENST00000524118.1_Silent_p.S86S NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 234 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GGACAGACATGGACTGGGAAA 0.453000 23 45 0 0 0.004656 0 0 ARMC4 55130 broad.mit.edu 37 10 28272855 28272855 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:28272855C>T ENST00000305242.5 - 6 828 c.736G>A c.(736-738)Gaa>Aaa p.E246K ARMC4_ENST00000239715.3_Missense_Mutation_p.E103K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 246 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TAACAAATTTCCCCACGAATT 0.393000 12 20 0 0 0.001368 0 0 CFHR5 81494 broad.mit.edu 37 1 196977674 196977674 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:196977674G>A ENST00000367414.5 + 10 1699 c.1643G>A c.(1642-1644)aGa>aAa p.R548K CFHR5_ENST00000256785.4_Missense_Mutation_p.R524K NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 524 Sushi 9. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 TTAAAATGGAGAAACGATGGA 0.323000 13 18 0 0 0.001368 0 0 COPG1 22820 broad.mit.edu 37 3 128976410 128976410 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:128976410C>T ENST00000314797.6 + 9 781 c.677C>T c.(676-678)cCc>cTc p.P226L NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 226 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity CTTAAGTCTCCCTTTGCCTAC 0.542000 47 102 0 0 0.003610 0 0 NF1 4763 broad.mit.edu 37 17 29559743 29559743 + Missense_Mutation SNP T T A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr17:29559743T>A ENST00000358273.4 + 26 3723 c.3340T>A c.(3340-3342)Ttg>Atg p.L1114M NF1_ENST00000356175.3_Missense_Mutation_p.L1114M NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1114 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TATGAACCTTTTGAATGACTG 0.433000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 6 11 0 0 0.001168 0 0 KIF1A 547 broad.mit.edu 37 2 241682373 241682373 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:241682373G>A ENST00000498729.2 - 34 3859 c.3613C>T c.(3613-3615)Cct>Tct p.P1205S KIF1A_ENST00000320389.7_Missense_Mutation_p.P1104S NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 1104 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ATGACCCGAGGGAAGTGGCGG 0.662000 4 10 0 0 0.009096 0 0 A1CF 29974 broad.mit.edu 37 10 52601719 52601719 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:52601719C>T ENST00000395489.2 - 7 643 c.247G>A c.(247-249)Gat>Aat p.D83N A1CF_ENST00000373997.3_Missense_Mutation_p.D90N|A1CF_ENST00000395495.1_Missense_Mutation_p.D90N|A1CF_ENST00000282641.2_Missense_Mutation_p.D90N|A1CF_ENST00000373995.3_Missense_Mutation_p.D98N|A1CF_ENST00000373993.1_Missense_Mutation_p.D90N|A1CF_ENST00000374001.1_Missense_Mutation_p.D90N NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 90 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CCATTAAAATCCATCATCATT 0.289000 7 20 0 0 0.001984 0 0 KIF17 57576 broad.mit.edu 37 1 21014262 21014262 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:21014262G>A ENST00000247986.2 - 8 1867 c.1557C>T c.(1555-1557)tcC>tcT p.S519S KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Silent_p.S419S|KIF17_ENST00000400463.3_Silent_p.S519S Q9P2E2 KIF17_HUMAN kinesin family member 17 519 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) CCGCAAACCTGGAGGAAACCT 0.542000 18 45 0 0 0.007413 0 0 SCN10A 6336 broad.mit.edu 37 3 38751002 38751002 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:38751002G>A ENST00000449082.2 - 24 4247 c.4248C>T c.(4246-4248)gtC>gtT p.V1416V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1416 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGTCAATTATGACCCCAACAA 0.408000 8 31 0 0 0.004482 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101760 46101760 + Silent SNP A A T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:46101760A>T ENST00000391617.1 - 1 318 c.279T>A c.(277-279)ccT>ccA p.P93P TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 93 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 AGCAGCAGGAAGGGGTGCTGC 0.622000 9 40 0 0 0.004482 0 0 DNAH8 1769 broad.mit.edu 37 6 38862567 38862567 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr6:38862567G>A ENST00000359357.3 + 57 8277 c.8023G>A c.(8023-8025)Gct>Act p.A2675T DNAH8_ENST00000441566.1_Missense_Mutation_p.A2639T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A2892T dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GACCATAAAAGCTGAGGAGTG 0.438000 9 16 0 0 0.006214 0 0 TUSC3 7991 broad.mit.edu 37 8 15480671 15480671 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:15480671G>A ENST00000382020.4 + 2 429 c.221G>A c.(220-222)cGa>cAa p.R74Q TUSC3_ENST00000503731.1_Missense_Mutation_p.R74Q|TUSC3_ENST00000506802.1_Missense_Mutation_p.R74Q|TUSC3_ENST00000509380.1_Missense_Mutation_p.R74Q|TUSC3_ENST00000503191.1_3'UTR NM_178234.2 NP_839952.1 Q13454 TUSC3_HUMAN tumor suppressor candidate 3 74 cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.R74L(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2) 28 Colorectal(111;0.113) GATAAATTCCGAAAATTTATA 0.398000 6 22 0 0 0.001168 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117779493 117779493 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:117779493C>T ENST00000528626.1 - 8 1084 c.1011G>A c.(1009-1011)cgG>cgA p.R337R TMPRSS13_ENST00000526090.1_Silent_p.R372R|TMPRSS13_ENST00000524993.1_Silent_p.R372R|TMPRSS13_ENST00000445164.2_Silent_p.R372R|TMPRSS13_ENST00000430170.2_Silent_p.R372R NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 367 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GGACCTTCTCCCGGGTCCTGC 0.607000 7 13 0 0 0.003080 0 0 CAPSL 133690 broad.mit.edu 37 5 35909988 35909988 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:35909988G>A ENST00000397367.2 - 4 631 c.505C>T c.(505-507)Ccc>Tcc p.P169S CAPSL_ENST00000397366.1_Missense_Mutation_p.P169S|CAPSL_ENST00000514524.1_Missense_Mutation_p.P169S NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 169 EF-hand 4. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) TTGTCATAGGGTGAATCAAAG 0.358000 17 61 0 0 0.006122 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377421 125377421 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125377421C>T ENST00000297913.2 + 1 474 c.405C>T c.(403-405)atC>atT p.I135I RP11-64P14.7_ENST00000431442.1_RNA NM_012364.1 NP_036496.1 Q15612 OR1Q1_HUMAN olfactory receptor, family 1, subfamily Q, member 1 135 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 ACACTATGATCCTGACTAGAA 0.473000 18 54 0 0 0.006122 0 0 SLC30A8 169026 broad.mit.edu 37 8 118174023 118174023 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:118174023G>A ENST00000427715.2 + 8 906 c.472G>A c.(472-474)Gaa>Aaa p.E158K SLC30A8_ENST00000456015.2_Missense_Mutation_p.E207K|SLC30A8_ENST00000521243.1_Missense_Mutation_p.E158K|SLC30A8_ENST00000519688.1_Missense_Mutation_p.E158K NM_001172813.1|NM_001172815.1 NP_001166284.1|NP_001166286.1 Q8IWU4 ZNT8_HUMAN solute carrier family 30 (zinc transporter), member 8 207 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) CAATCACAAGGAAGTACAAGC 0.428000 80 195 0 0 0.003610 0 0 RGS22 26166 broad.mit.edu 37 8 101076099 101076099 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:101076099C>T ENST00000360863.6 - 8 1091 c.897G>A c.(895-897)caG>caA p.Q299Q RGS22_ENST00000523287.1_Silent_p.Q118Q|RGS22_ENST00000523437.1_Silent_p.Q287Q NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 299 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity 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) CATCAACATCCTGTTTCTTTT 0.363000 25 49 0 0 0.006320 0 0 CCDC81 60494 broad.mit.edu 37 11 86126160 86126160 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:86126160C>T ENST00000278487.3 + 12 1780 c.701C>T c.(700-702)cCc>cTc p.P234L CCDC81_ENST00000528728.1_Missense_Mutation_p.P234L|CCDC81_ENST00000354755.1_Missense_Mutation_p.P409L|CCDC81_ENST00000445632.2_Missense_Mutation_p.P499L Q6ZN84 CCD81_HUMAN coiled-coil domain containing 81 499 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) TCTCGGCTGCCCCCCTTTGAG 0.438000 19 41 0 0 0.002780 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480243 140480243 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:140480243G>A ENST00000231130.2 + 1 10 c.10G>A c.(10-12)Gga>Aga p.G4R AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 4 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGGAGGCGGGAGGAGAGCG 0.522000 11 39 0 0 0.002450 0 0 ZDBF2 57683 broad.mit.edu 37 2 207175466 207175466 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr2:207175466G>A ENST00000374423.3 + 5 6600 c.6214G>A c.(6214-6216)Gag>Aag p.E2072K NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2072 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 AATAGTACCAGAGTTTGAGAG 0.378000 11 15 0 0 0.000978 0 0 ANAPC2 29882 broad.mit.edu 37 9 140082095 140082095 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:140082095C>T ENST00000323927.2 - 2 582 c.578G>A c.(577-579)gGg>gAg p.G193E NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 193 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GTCTGTGCCCCCTTCCCCCTT 0.587000 18 53 0 0 0.006122 0 0 POPDC2 64091 broad.mit.edu 37 3 119367478 119367478 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:119367478G>A ENST00000493094.1 - 3 1097 c.638C>T c.(637-639)tCc>tTc p.S213F POPDC2_ENST00000538678.1_Missense_Mutation_p.S213F|POPDC2_ENST00000468801.1_Missense_Mutation_p.S213F|POPDC2_ENST00000474523.1_5'UTR|POPDC2_ENST00000264231.3_Missense_Mutation_p.S213F Q9HBU9 POPD2_HUMAN popeye domain containing 2 213 integral to membrane breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 13 GBM - Glioblastoma multiforme(114;0.242) CCGGGGCCAGGAAATGTAGCT 0.473000 15 37 0 0 0.010504 0 0 LGMN 5641 broad.mit.edu 37 14 93178215 93178215 + Nonsense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:93178215C>T ENST00000393218.2 - 10 1033 c.696G>A c.(694-696)tgG>tgA p.W232* LGMN_ENST00000334869.4_Nonsense_Mutation_p.W232*|LGMN_ENST00000557434.1_Nonsense_Mutation_p.W232*|LGMN_ENST00000555699.1_Nonsense_Mutation_p.W232* NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 232 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) TGACGCTGTACCAGTCCCCCA 0.522000 15 22 0 0 0.003163 0 0 NRXN2 9379 broad.mit.edu 37 11 64453402 64453402 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:64453402C>T ENST00000265459.6 - 6 1329 c.868G>A c.(868-870)Gcg>Acg p.A290T NRXN2_ENST00000377559.3_Missense_Mutation_p.A266T|NRXN2_ENST00000377551.1_Missense_Mutation_p.A290T|NRXN2_ENST00000409571.1_Missense_Mutation_p.A290T NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 290 Laminin G-like 2. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TTGAAGGTCGCCACAAACTCC 0.582000 10 24 0 0 0.008291 0 0 PTPRB 5787 broad.mit.edu 37 12 71003006 71003006 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:71003006G>A ENST00000334414.6 - 4 866 c.822C>T c.(820-822)ctC>ctT p.L274L PTPRB_ENST00000261266.5_Silent_p.L56L|PTPRB_ENST00000550857.1_Silent_p.L56L|PTPRB_ENST00000551525.1_Silent_p.L273L|PTPRB_ENST00000550358.1_Silent_p.L274L|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.L56L|PTPRB_ENST00000451516.2_Silent_p.L56L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 56 Fibronectin type-III 3. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCTATAGATGAGGCTAAAGT 0.512000 12 37 0 0 0.000978 0 0 COL7A1 1294 broad.mit.edu 37 3 48618556 48618556 + Splice_Site SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:48618556G>A ENST00000328333.8 - 52 5041 c.4935_splice c.e52+1 p.P1645_splice COL7A1_ENST00000454817.1_Splice_Site_p.P1645_splice NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1645 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGTCTCACCGGAGGACCCTC 0.557000 5 10 0 0 0.000602 0 0 RTP3 83597 broad.mit.edu 37 3 46542317 46542317 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:46542317G>A ENST00000296142.3 + 2 1199 c.627G>A c.(625-627)agG>agA p.R209R NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 209 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) ACATCTGTAGGAACTTAAGCA 0.433000 16 25 0 0 0.004990 0 0 GPC6 10082 broad.mit.edu 37 13 95034789 95034789 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr13:95034789G>A ENST00000377047.4 + 7 1889 c.1274G>A c.(1273-1275)gGg>gAg p.G425E NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 425 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TGCTGGAACGGGCACAGCAAA 0.552000 13 36 0 0 0.002450 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72165736 72165736 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:72165736C>T ENST00000555818.1 + 11 3761 c.3413C>T c.(3412-3414)tCc>tTc p.S1138F SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1138F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1138F|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S613F NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1138 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACGGTCTCATCCATGGCTTTA 0.483000 18 34 0 0 0.007413 0 0 GIMAP4 55303 broad.mit.edu 37 7 150270001 150270001 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150270001G>A ENST00000255945.2 + 3 1018 c.843G>A c.(841-843)aaG>aaA p.K281K GIMAP4_ENST00000461940.1_Silent_p.K295K|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 281 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAATGGAGAAGAAACTAGCAG 0.443000 5 21 0 0 0.000602 0 0 ERCC6 2074 broad.mit.edu 37 10 50666971 50666971 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:50666971A>G ENST00000355832.5 - 21 4450 c.4372T>C c.(4372-4374)Tta>Cta p.L1458L RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.L828L NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1458 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GATGCAGATAACTTGGATTCA 0.478000 Direct reversal of damage;Nucleotide excision repair (NER) 15 44 0 0 0.003163 0 0 DSCAM 1826 broad.mit.edu 37 21 41414529 41414529 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr21:41414529C>T ENST00000400454.1 - 32 5932 c.5455G>A c.(5455-5457)Gaa>Aaa p.E1819K NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1819 cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TTGGCGTGTTCGTAGGCCCTG 0.527000 19 38 0 0 0.007413 0 0 OR51E2 81285 broad.mit.edu 37 11 4703151 4703151 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:4703151C>T ENST00000396950.3 - 2 1030 c.791G>A c.(790-792)gGa>gAa p.G264E NM_030774.3 NP_110401.1 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, member 2 264 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3) 23 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AAGGCTGTTTCCAAAGCGGTG 0.517000 18 30 0 0 0.004990 0 0 WARS 7453 broad.mit.edu 37 14 100809692 100809692 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:100809692G>A ENST00000355338.2 - 8 1477 c.859C>T c.(859-861)Ccc>Tcc p.P287S RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000556645.1_Missense_Mutation_p.P246S|WARS_ENST00000358655.4_Missense_Mutation_p.P246S|WARS_ENST00000557135.1_Missense_Mutation_p.P287S|WARS_ENST00000344102.5_Missense_Mutation_p.P246S|WARS_ENST00000392882.2_Missense_Mutation_p.P287S NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 287 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) CTGAAGGAGGGAGCAGCCTGG 0.458000 3 11 0 0 0.009096 0 0 SYT16 83851 broad.mit.edu 37 14 62551075 62551075 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr14:62551075C>T ENST00000430451.2 + 5 1793 c.1596C>T c.(1594-1596)ttC>ttT p.F532F NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 532 C2 2. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GCAGCCATTTCCGAAACCTCG 0.537000 16 22 0 0 0.006122 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68139385 68139385 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr8:68139385G>A ENST00000262215.3 - 27 4292 c.3903C>T c.(3901-3903)acC>acT p.T1301T ARFGEF1_ENST00000520381.1_Silent_p.T755T|ARFGEF1_ENST00000518230.1_Silent_p.T139T NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1301 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CAATGTGCCCGGTTGTTTGGA 0.373000 9 23 0 0 0.006214 0 0 OR1L8 138881 broad.mit.edu 37 9 125330619 125330619 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:125330619G>A ENST00000304865.2 - 1 219 c.138C>T c.(136-138)atC>atT p.I46I NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 TGGCCAGGATGATGAGCAGGT 0.483000 24 44 0 0 0.003954 0 0 FLG2 388698 broad.mit.edu 37 1 152326877 152326877 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152326877C>T ENST00000388718.5 - 3 3457 c.3385G>A c.(3385-3387)Gga>Aga p.G1129R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1129 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGTTGTCCAAAGCCAGAA 0.522000 53 110 0 0 0.003610 0 0 SMC2 10592 broad.mit.edu 37 9 106898163 106898163 + Missense_Mutation SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:106898163A>G ENST00000303219.8 + 24 3634 c.3284A>G c.(3283-3285)aAc>aGc p.N1095S SMC2_ENST00000374787.3_Intron|SMC2_ENST00000286398.7_Intron|SMC2_ENST00000374793.3_Intron O95347 SMC2_HUMAN structural maintenance of chromosomes 2 0 Ala/Asp-rich (DA-box). cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 aaacagcagaaccatactaca 0.328000 11 31 0 0 0.001855 0 0 OR4M2 390538 broad.mit.edu 37 15 22369378 22369378 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr15:22369378C>T ENST00000332663.2 + 1 901 c.803C>T c.(802-804)tCc>tTc p.S268F RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) GACTCGTTTTCCCTAGATAAA 0.423000 14 98 0 0 0.004007 0 0 FGF23 8074 broad.mit.edu 37 12 4479772 4479772 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:4479772G>A ENST00000237837.1 - 3 638 c.493C>T c.(493-495)Ccc>Tcc p.P165S NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 165 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TGAATTAGGGGGATCTCGTTC 0.657000 16 49 0 0 0.007413 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84532180 84532180 + RNA SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:84532180C>T ENST00000527857.1 + 0 2202 NR_026851.1 AGCAAAATTTCAGAGCTATCT 0.488000 7 23 0 0 0.004482 0 0 GPR158 57512 broad.mit.edu 37 10 25684905 25684905 + Silent SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:25684905C>T ENST00000376351.3 + 3 1433 c.1074C>T c.(1072-1074)ttC>ttT p.F358F NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 358 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 AAGCAGGATTCTATCATCCTG 0.363000 13 15 0 0 0.006122 0 0 NWD1 284434 broad.mit.edu 37 19 16860798 16860798 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:16860798C>T ENST00000524140.2 + 6 1763 c.1345C>T c.(1345-1347)Cgg>Tgg p.R449W NWD1_ENST00000552788.1_Missense_Mutation_p.R449W|NWD1_ENST00000523826.1_Missense_Mutation_p.R243W|NWD1_ENST00000549814.1_Missense_Mutation_p.R449W|NWD1_ENST00000379808.3_Missense_Mutation_p.R449W|NWD1_ENST00000339803.6_Missense_Mutation_p.R314W NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 449 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCGCCATGCTCGGAGGGTTCC 0.597000 20 63 0 0 0.002299 0 0 ZNF560 147741 broad.mit.edu 37 19 9578870 9578870 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:9578870G>A ENST00000301480.4 - 10 966 c.753C>T c.(751-753)ctC>ctT p.L251L NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 ATAGAGAAAGGAGGTCTTTTG 0.373000 9 36 0 0 0.000978 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606068 21606068 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:21606068C>T ENST00000281523.2 - 3 792 c.274G>A c.(274-276)Gat>Aat p.D92N ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 92 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 AAACTTACATCAGAATTAAAT 0.328000 11 22 0 0 0.000978 0 0 KRT82 3888 broad.mit.edu 37 12 52799831 52799831 + Silent SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr12:52799831G>A ENST00000257974.2 - 1 308 c.231C>T c.(229-231)ggC>ggT p.G77G NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 77 Head. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GGTACCCGAAGCCAGGCAGGG 0.657000 15 26 0 0 0.002450 0 0 KCNH2 3757 broad.mit.edu 37 7 150645555 150645555 + Missense_Mutation SNP G G A TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:150645555G>A ENST00000392968.2 - 9 3501 c.2381C>T c.(2380-2382)tCc>tTc p.S794F KCNH2_ENST00000330883.4_Missense_Mutation_p.S550F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S890F Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 890 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCTGCGGAAGGACAACTTGCG 0.652000 5 36 0 0 0.000602 0 0 LUZP2 338645 broad.mit.edu 37 11 24936055 24936055 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr11:24936055C>T ENST00000533227.1 + 7 522 c.235C>T c.(235-237)Cgt>Tgt p.R79C LUZP2_ENST00000336930.6_Missense_Mutation_p.R165C NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 165 extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 GAAGGAGCTTCGTTATGGGAA 0.318000 7 17 0 0 0.004482 0 0 LCE1B 353132 broad.mit.edu 37 1 152785074 152785097 + In_Frame_Del DEL GCTGTGGCTCCAGCTCTGGGGGAA GCTGTGGCTCCAGCTCTGGGGGAA - rs79241619 byFrequency TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr1:152785074_152785097delGCTGTGGCTCCAGCTCTGGGGGAA ENST00000360090.3 + 1 628_651 c.152_175delGCTGTGGCTCCAGCTCTGGGGGAA c.(151-177)tgc>t p.CCGSSSGGS51del NM_178349.1 NP_848126.1 Q5T7P3 LCE1B_HUMAN late cornified envelope 1B 51 Gly-rich. keratinization p.C51F(1)|p.S56C(1) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2) 18 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TCCGGAGGCTGCTGTGGCTCCAGCTCTGGGGGAAGCTGTGGCTC 0.652 12 82 --- --- --- --- ARIH2 10425 broad.mit.edu 37 3 49008031 49008031 + Frame_Shift_Del DEL C C - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr3:49008031delC ENST00000356401.4 + 8 1003 c.664delC c.(664-666)atfs p.H222fs ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Frame_Shift_Del_p.H222fs NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 222 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) TTCACAGAGTCATTACCAGCT 0.502 14 76 --- --- --- --- SRP72 6731 broad.mit.edu 37 4 57350909 57350909 + Frame_Shift_Del DEL A A - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr4:57350909delA ENST00000342756.5 + 10 1686 c.965delA c.(964-966)cafs p.Q322fs SRP72_ENST00000510663.1_Frame_Shift_Del_p.Q261fs NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72kDa 322 response to drug|SRP-dependent cotranslational protein targeting to membrane cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting 7S RNA binding|signal recognition particle binding breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2) 22 Glioma(25;0.08)|all_neural(26;0.101) TAGGCTGAACAATGCCGCAAA 0.418 20 40 --- --- --- --- RAD17 5884 broad.mit.edu 37 5 68709960 68709960 + Frame_Shift_Del DEL G G - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:68709960delG ENST00000509734.1 + 18 2565 c.1887delG c.(1885-1887)ctfs p.L629fs RAD17_ENST00000504177.1_3'UTR|RAD17_ENST00000354868.5_Frame_Shift_Del_p.L618fs|RAD17_ENST00000380774.3_Frame_Shift_Del_p.L629fs|RAD17_ENST00000345306.6_Frame_Shift_Del_p.L618fs|RAD17_ENST00000358030.2_Frame_Shift_Del_p.L453fs|RAD17_ENST00000305138.4_Frame_Shift_Del_p.L618fs|RAD17_ENST00000521422.1_Frame_Shift_Del_p.L453fs|RAD17_ENST00000282891.6_Frame_Shift_Del_p.L532fs|RAD17_ENST00000361732.2_Frame_Shift_Del_p.L618fs|RAD17_ENST00000354312.3_Frame_Shift_Del_p.L618fs O75943 RAD17_HUMAN RAD17 homolog (S. pombe) 629 Interaction with MCM7. cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation nucleoplasm ATP binding|nucleoside-triphosphatase activity|protein binding Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183) AGGAATCTCTGGGTGAACCCA 0.527 Other conserved DNA damage response genes 28 66 --- --- --- --- GEMIN5 25929 broad.mit.edu 37 5 154271035 154271036 + Frame_Shift_Del DEL AA AA - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr5:154271035_154271036delAA ENST00000285873.7 - 26 4102_4103 c.4027_4028delTT c.(4027-4029)gfs p.L1343fs NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 1343 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGTGAGTCTCAAGTCTAGTTCT 0.475 28 111 --- --- --- --- ZKSCAN5 23660 broad.mit.edu 37 7 99128970 99128970 + Frame_Shift_Del DEL A A - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:99128970delA ENST00000394170.2 + 7 1869 c.1618delA c.(1618-1620)aafs p.K541fs ZKSCAN5_ENST00000451158.1_Frame_Shift_Del_p.K541fs|ZKSCAN5_ENST00000326775.5_Frame_Shift_Del_p.K541fs NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 541 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) ATATGTCCACAAAAAATCCTC 0.418 13 23 --- --- --- --- LMBR1 64327 broad.mit.edu 37 7 156589158 156589158 + Frame_Shift_Del DEL G G - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr7:156589158delG ENST00000353442.4 - 5 584 c.348delC c.(346-348)tcfs p.S116fs LMBR1_ENST00000359422.4_5'UTR|LMBR1_ENST00000354505.4_Frame_Shift_Del_p.S116fs|LMBR1_ENST00000540390.1_Frame_Shift_Del_p.S95fs NM_022458.3 NP_071903.2 Q8WVP7 LMBR1_HUMAN limb development membrane protein 1 116 integral to membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 18 Ovarian(565;0.218) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.208) AACAAAGGTTGGAAAAAAGGG 0.333 9 16 --- --- --- --- ABO 28 broad.mit.edu 37 9 136131057 136131057 + RNA DEL G G - rs8176750 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr9:136131057delG ENST00000453660.2 - 0 1071 P16442 BGAT_HUMAN ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding p.P353fs?(1) central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2) 11 OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05) AGCCGCTCACGGGTTCCGGAC 0.662 5 3 --- --- --- --- ABLIM1 3983 broad.mit.edu 37 10 116361718 116361718 + Frame_Shift_Del DEL C C - TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr10:116361718delC ENST00000369252.4 - 2 368 c.67delG c.(67-69)ccfs p.A23fs ABLIM1_ENST00000277895.5_Frame_Shift_Del_p.A83fs|ABLIM1_ENST00000477638.1_5'UTR|ABLIM1_ENST00000533213.2_Frame_Shift_Del_p.A23fs NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 83 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding p.A23S(1)|p.A83S(1) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) TGAGGGTGGGCCACTGAAAGA 0.493 23 27 --- --- --- --- SPPL2B 56928 broad.mit.edu 37 19 2353276 2353279 + RNA DEL AGAC AGAC - rs111785886 TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6507e084-c038-4ba6-a431-fb9a53190d5f 231598d2-a4cd-4a61-b98a-3f41220659cd g.chr19:2353276_2353279delAGAC ENST00000452401.2 + 0 1988_1991 AC005258.3_ENST00000590001.1_RNA Q8TCT7 PSL1_HUMAN signal peptide peptidase like 2B Golgi membrane|integral to membrane aspartic-type endopeptidase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCCACTGGAGACAGACAGACAG 0.711 6 6 --- --- --- ---