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 SAMHD1 25939 broad.mit.edu 37 20 35540893 35540893 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:35540893T>C ENST00000262878.4 - 10 1324 c.1125A>G c.(1123-1125)caA>caG p.Q375Q SAMHD1_ENST00000373694.5_Silent_p.Q160Q NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 375 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) CAACTTTGTGTTGATAAGCTC 0.353000 5 12 0 0 0.000602 0 0 NES 10763 broad.mit.edu 37 1 156640063 156640063 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:156640063C>A ENST00000368223.3 - 4 4049 c.3917G>T c.(3916-3918)aGg>aTg p.R1306M NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1306 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGTGGGGGACCTGAGGTAGAA 0.662000 28 69 1.75199e-13 2.52706e-13 0.007291 1 0 NAV3 89795 broad.mit.edu 37 12 78510663 78510663 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:78510663C>A ENST00000397909.2 + 13 2921 c.2748C>A c.(2746-2748)gtC>gtA p.V916V NAV3_ENST00000266692.7_Silent_p.V916V|NAV3_ENST00000228327.6_Silent_p.V916V|NAV3_ENST00000536525.2_Silent_p.V916V Q8IVL0 NAV3_HUMAN neuron navigator 3 916 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACATCACCGTCCCCTCTAGGA 0.433000 HNSCC(70;0.22) 45 55 4.75955e-12 6.59176e-12 0.003610 1 0 CPD 1362 broad.mit.edu 37 17 28758816 28758816 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:28758816G>C ENST00000225719.4 + 8 2120 c.2044G>C c.(2044-2046)Gat>Cat p.D682H CPD_ENST00000543464.2_Missense_Mutation_p.D435H NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 682 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CTACCCTTTTGATGATGATGA 0.353000 8 32 0 0 0.003080 0 0 BRINP1 1620 broad.mit.edu 37 9 121971074 121971074 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:121971074G>T ENST00000265922.3 - 7 1529 c.1068C>A c.(1066-1068)atC>atA p.I356I DBC1_ENST00000482797.1_5'UTR NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 356 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CAGTGCGTTGGATCTTTTGTC 0.577000 32 17 6.38683e-12 8.8357e-12 0.008361 1 0 ANLN 54443 broad.mit.edu 37 7 36438854 36438854 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:36438854C>T ENST00000265748.2 + 3 560 c.339C>T c.(337-339)atC>atT p.I113I ANLN_ENST00000396068.2_Silent_p.I113I NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 113 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CAGATACCATCAGTGATTCTG 0.488000 18 26 0 0 0.006122 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858121 54858121 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:54858121G>T ENST00000333896.5 + 15 3283 c.2898G>T c.(2896-2898)gaG>gaT p.E966D SPTBN1_ENST00000356805.4_Missense_Mutation_p.E979D NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 979 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGGTCATCGAGTCCACCCAGG 0.582000 16 16 6.31663e-08 7.85344e-08 0.003163 1 0 DOCK10 55619 broad.mit.edu 37 2 225652116 225652116 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:225652116T>A ENST00000409592.3 - 49 5514 c.e49-2 DOCK10_ENST00000258390.7_Splice_Site Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CAGGATATTCTGCAATTCCCC 0.433000 57 132 0 0 0.003610 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122349007 122349007 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:122349007C>A ENST00000398250.1 + 7 1161 c.809C>A c.(808-810)cCg>cAg p.P270Q PPAPDC1A_ENST00000398248.1_3'UTR|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P207Q|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P260Q NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 270 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) ACCGAAGGCCCGGTATGACCA 0.542000 18 21 1.45105e-14 2.17051e-14 0.006122 1 0 KIAA2022 340533 broad.mit.edu 37 X 73961650 73961650 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:73961650A>C ENST00000373468.1 - 3 3393 c.2742T>G c.(2740-2742)agT>agG p.S914R KIAA2022_ENST00000055682.5_Missense_Mutation_p.S914R Q5QGS0 K2022_HUMAN KIAA2022 914 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTCCAAATTCACTGGATTGGG 0.458000 13 19 0 0 0.002450 0 0 SYNPO 11346 broad.mit.edu 37 5 150036441 150036441 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:150036441G>T ENST00000307662.4 + 3 3033 c.2504G>T c.(2503-2505)tGc>tTc p.C835F NM_007286.5 NP_009217.3 Q8N3V7 SYNPO_HUMAN synaptopodin 897 Pro-rich. positive regulation of actin filament bundle assembly|regulation of stress fiber assembly actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction actin binding|protein binding NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2) 18 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCTTCGTCCTGCACCAGTCCC 0.766000 5 2 0.000602214 0.000646077 0.000602 1 0 ABCA13 154664 broad.mit.edu 37 7 48563910 48563910 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:48563910G>T ENST00000435803.1 + 54 14142 c.14118G>T c.(14116-14118)aaG>aaT p.K4706N ABCA13_ENST00000544596.1_Missense_Mutation_p.K436N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4706 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAGAGGAAAAGAGAGTGTTTG 0.383000 14 14 9.31168e-06 1.07251e-05 0.001855 1 0 TMPRSS12 283471 broad.mit.edu 37 12 51281254 51281254 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:51281254C>A ENST00000398458.3 + 5 1037 c.1005C>A c.(1003-1005)atC>atA p.I335I TMPRSS12_ENST00000551456.1_3'UTR NM_182559.2 NP_872365.1 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 335 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 GTGGCCAGATCCTCATAGCTT 0.363000 53 71 1.46156e-29 2.70291e-29 0.003610 1 0 TPH2 121278 broad.mit.edu 37 12 72388295 72388295 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:72388295G>A ENST00000333850.3 + 8 1159 c.1018G>A c.(1018-1020)Ggt>Agt p.G340S NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 340 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) ACAAGAAATAGGTCTGGCGTC 0.413000 40 40 0 0 0.006230 0 0 GPR116 221395 broad.mit.edu 37 6 46826559 46826559 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:46826559C>A ENST00000283296.7 - 17 3369 c.3081G>T c.(3079-3081)ttG>ttT p.L1027F GPR116_ENST00000362015.4_Missense_Mutation_p.L1027F|GPR116_ENST00000545669.1_Missense_Mutation_p.L456F|GPR116_ENST00000456426.2_Missense_Mutation_p.L885F|GPR116_ENST00000265417.7_Missense_Mutation_p.L1027F NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1027 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) GACAGGCTGCCAAGCTCAAGA 0.507000 30 5 5.60225e-13 7.9524e-13 0.009535 1 0 LPHN3 23284 broad.mit.edu 37 4 62542546 62542546 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:62542546G>T ENST00000512091.1 + 5 1019 c.272G>T c.(271-273)tGc>tTc p.C91F LPHN3_ENST00000508946.1_Missense_Mutation_p.C91F|LPHN3_ENST00000507625.1_Missense_Mutation_p.C159F|LPHN3_ENST00000506746.1_Missense_Mutation_p.C159F|LPHN3_ENST00000511324.1_Missense_Mutation_p.C159F|LPHN3_ENST00000508693.1_Missense_Mutation_p.C159F|LPHN3_ENST00000507164.1_Missense_Mutation_p.C159F|LPHN3_ENST00000506700.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514157.1_Missense_Mutation_p.C91F|LPHN3_ENST00000545650.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514996.1_Missense_Mutation_p.C91F|LPHN3_ENST00000504896.1_Missense_Mutation_p.C91F|LPHN3_ENST00000506720.1_Missense_Mutation_p.C159F|LPHN3_ENST00000514591.1_Missense_Mutation_p.C91F|LPHN3_ENST00000509896.1_Missense_Mutation_p.C159F Q9HAR2 LPHN3_HUMAN latrophilin 3 91 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GACTTCAGATGCAATAACAGA 0.368000 86 26 3.64303e-30 6.74714e-30 0.003610 1 0 OTOP2 92736 broad.mit.edu 37 17 72927022 72927022 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:72927022G>T ENST00000331427.4 + 6 1384 c.1292G>T c.(1291-1293)gGg>gTg p.G431V OTOP2_ENST00000580223.1_Missense_Mutation_p.G431V NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 431 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) GGACCGCCCGGGGCTGAGCCT 0.622000 23 71 2.52088e-20 4.21944e-20 0.002780 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26431538 26431538 + RNA SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:26431538C>G ENST00000466808.2 + 0 1486 GGGCTGGACACTTCACAGAGC 0.562000 48 14 0 0 0.013114 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840431 1840431 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:1840431A>G ENST00000331238.5 - 2 703 c.685T>C c.(685-687)Ttc>Ctc p.F229L NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 229 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CTGTTGTTGAAGAGGAAGAGG 0.642000 5 17 0 0 0.000602 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465654 24465654 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:24465654G>T ENST00000382137.3 - 3 844 c.776C>A c.(775-777)tCc>tAc p.S259Y C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S259Y|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 259 C1q. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 AACATTCCTGGAGAAAACAGT 0.453000 10 77 9.31168e-06 1.07251e-05 0.001855 1 0 SLIT3 6586 broad.mit.edu 37 5 168096807 168096807 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:168096807G>A ENST00000519560.1 - 35 4736 c.4317C>T c.(4315-4317)agC>agT p.S1439S SLIT3_ENST00000332966.8_Silent_p.S1446S|SLIT3_ENST00000404867.3_Silent_p.S1439S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1439 EGF-like 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTGCTCGCCGCTAAAGCCGG 0.582000 9 15 0 0 0.004482 0 0 NEK8 284086 broad.mit.edu 37 17 27065225 27065225 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:27065225A>T ENST00000268766.6 + 8 1218 c.1184A>T c.(1183-1185)cAc>cTc p.H395L AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 395 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) ACCATCAAGCACGTGGCCTGT 0.627000 16 42 0 0 0.008871 0 0 SBNO1 55206 broad.mit.edu 37 12 123801821 123801821 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:123801821A>C ENST00000420886.2 - 20 2881 c.2882T>G c.(2881-2883)gTt>gGt p.V961G SBNO1_ENST00000602398.1_Missense_Mutation_p.V961G|SBNO1_ENST00000267176.4_Missense_Mutation_p.V960G|SBNO1_ENST00000602750.1_Missense_Mutation_p.V960G NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 961 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) AGTCATATGAACTCTTCGCCT 0.383000 11 58 0 0 0.008291 0 0 SLC15A1 6564 broad.mit.edu 37 13 99354750 99354750 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:99354750C>A ENST00000376503.5 - 18 1505 c.1450G>T c.(1450-1452)Ggg>Tgg p.G484W NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 484 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CCATTTTCCCCTTTTTCTGGC 0.289000 9 16 0.000274275 0.000296796 0.004482 1 0 OR10S1 219873 broad.mit.edu 37 11 123847819 123847819 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:123847819C>A ENST00000531945.1 - 1 669 c.580G>T c.(580-582)Gac>Tac p.D194Y NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D194N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) GGGGGTATGTCGCAGAAGAAG 0.567000 36 27 7.11191e-15 1.07149e-14 0.002836 1 0 ASIC2 40 broad.mit.edu 37 17 31618776 31618776 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:31618776C>T ENST00000225823.2 - 1 1230 c.358G>A c.(358-360)Gtg>Atg p.V120M ASIC2_ENST00000359872.6_Intron NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 76 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TCGCGGTGCACCCGCGTGTGT 0.642000 8 29 0 0 0.003080 0 0 ADCY1 107 broad.mit.edu 37 7 45701758 45701758 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:45701758T>A ENST00000297323.7 + 8 1572 c.1550T>A c.(1549-1551)aTg>aAg p.M517K ADCY1_ENST00000432715.1_Missense_Mutation_p.M292K NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 517 Interaction with calmodulin (By similarity). 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) TGCCGGAAAATGTTCAAGGCC 0.532000 9 34 0 0 0.004482 0 0 OR2D2 120776 broad.mit.edu 37 11 6913706 6913706 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:6913706A>C ENST00000299459.2 - 1 124 c.26T>G c.(25-27)gTg>gGg p.V9G NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAATTCTGTCACTTGTGTCTG 0.408000 13 21 0 0 0.001855 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834677 125834677 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:125834677G>T ENST00000299308.3 + 2 740 c.732G>T c.(730-732)tcG>tcT p.S244S NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 244 integral to membrane p.S244S(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATATCCACTCGGGCCTGGAGA 0.592000 38 74 1.57351e-24 2.79043e-24 0.003755 1 0 POM121 9883 broad.mit.edu 37 7 72413237 72413237 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:72413237C>G ENST00000395270.1 + 14 2951 c.1910C>G c.(1909-1911)tCc>tGc p.S637C POM121_ENST00000358357.3_Missense_Mutation_p.S637C|POM121_ENST00000434423.2_Missense_Mutation_p.S902C|POM121_ENST00000446813.1_Missense_Mutation_p.S637C|POM121_ENST00000257622.4_Missense_Mutation_p.S637C NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 902 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TTCAGCCAGTCCCTGCACACT 0.647000 32 232 0 0 0.002836 0 0 FAM71C 196472 broad.mit.edu 37 12 100042540 100042540 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:100042540G>A ENST00000324341.1 + 1 1010 c.588G>A c.(586-588)gtG>gtA p.V196V ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 196 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) ACTCATCTGTGTTGGAGGAAG 0.517000 19 21 0 0 0.007413 0 0 ANLN 54443 broad.mit.edu 37 7 36438851 36438851 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:36438851C>T ENST00000265748.2 + 3 557 c.336C>T c.(334-336)acC>acT p.T112T ANLN_ENST00000396068.2_Silent_p.T112T NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 112 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CAGCAGATACCATCAGTGATT 0.478000 19 25 0 0 0.006122 0 0 FN1 2335 broad.mit.edu 37 2 216248813 216248813 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:216248813A>T ENST00000354785.4 - 30 5193 c.4824T>A c.(4822-4824)acT>acA p.T1608T FN1_ENST00000323926.6_Silent_p.T1608T|FN1_ENST00000446046.1_Silent_p.T1517T|FN1_ENST00000443816.1_Silent_p.T1517T|FN1_ENST00000432072.2_Silent_p.T1608T|FN1_ENST00000421182.1_Silent_p.T1517T|FN1_ENST00000359671.1_Silent_p.T1517T|FN1_ENST00000357867.4_Silent_p.T1517T|FN1_ENST00000357009.2_Silent_p.T1517T|FN1_ENST00000356005.4_Silent_p.T1517T|FN1_ENST00000346544.3_Silent_p.T1517T|FN1_ENST00000345488.5_Silent_p.T1517T|FN1_ENST00000336916.4_Silent_p.T1517T P02751 FINC_HUMAN fibronectin 1 1611 Fibronectin type-III 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCATACACAGTGATGGTAT 0.507000 25 62 0 0 0.004656 0 0 DLG2 1740 broad.mit.edu 37 11 84245718 84245718 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:84245718G>T ENST00000398309.2 - 2 569 c.99C>A c.(97-99)acC>acA p.T33T DLG2_ENST00000543673.1_Silent_p.T138T|DLG2_ENST00000532653.1_Silent_p.T33T|DLG2_ENST00000376104.2_Silent_p.T138T|DLG2_ENST00000524982.1_Silent_p.T33T NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 33 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TTACTTCGTGGGTTAGTCGAG 0.403000 45 46 1.52319e-26 2.75184e-26 0.008740 1 0 ATXN2L 11273 broad.mit.edu 37 16 28842109 28842109 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:28842109G>T ENST00000336783.4 + 9 1375 c.1208G>T c.(1207-1209)gGa>gTa p.G403V ATXN2L_ENST00000570200.1_Missense_Mutation_p.G403V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G403V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.G403V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G403V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G403V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G403V NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 403 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GGTATCAATGGAGGTGAGTTA 0.602000 12 25 3.07112e-06 3.60698e-06 0.010729 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65321770 65321770 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:65321770G>T ENST00000284037.5 + 12 1374 c.985G>T c.(985-987)Gct>Tct p.A329S ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.A329S NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 329 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AACTTTTGCTGCTGATCATAA 0.318000 3 11 1.23904e-05 1.41928e-05 0.000602 1 0 PC 5091 broad.mit.edu 37 11 66636436 66636436 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:66636436C>A ENST00000393960.1 - 10 1185 c.e10-1 PC_ENST00000393958.2_Splice_Site|PC_ENST00000393955.2_Splice_Site|PC_ENST00000524491.1_Splice_Site|PC_ENST00000355677.3_Splice_Site NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGTAGCCCACCTGTGGGGGCG 0.647000 42 55 1.59932e-28 2.936e-28 0.007835 1 0 OR4L1 122742 broad.mit.edu 37 14 20529044 20529044 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:20529044T>A ENST00000315683.1 + 1 841 c.841T>A c.(841-843)Tta>Ata p.L281I NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TATCACACCCTTACTGAATCC 0.353000 9 21 0 0 0.001368 0 0 RAB19 401409 broad.mit.edu 37 7 140125837 140125837 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:140125837G>A ENST00000275874.5 + 5 880 c.682G>A c.(682-684)Gcg>Acg p.A228T RAB19_ENST00000537763.1_Missense_Mutation_p.A181T|RAB19_ENST00000356407.3_Missense_Mutation_p.A181T A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 181 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GGAGCTGATCGCGCGCAACAG 0.572000 21 67 0 0 0.008871 0 0 C1orf50 79078 broad.mit.edu 37 1 43241011 43241011 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:43241011G>T ENST00000372525.5 + 5 589 c.546G>T c.(544-546)caG>caT p.Q182H C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 182 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCTAAGCCAGTCAGTGGCCC 0.517000 50 11 9.52127e-25 1.69327e-24 0.003610 1 0 DNASE1L3 1776 broad.mit.edu 37 3 58190582 58190582 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:58190582C>T ENST00000483681.1 - 6 928 c.347G>A c.(346-348)aGt>aAt p.S116N DNASE1L3_ENST00000486455.1_Missense_Mutation_p.S86N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.S116N|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.S116N Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 116 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) GTAGTGATAACTCCTCTTCAC 0.478000 15 9 0 0 0.003163 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711781 155711781 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:155711781C>A ENST00000295101.2 + 3 1939 c.1462C>A c.(1462-1464)Ctt>Att p.L488I NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 488 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) GGAAGGGAACCTTCCAGCCAA 0.413000 9 17 0.00448238 0.00471592 0.004482 1 0 SORCS1 114815 broad.mit.edu 37 10 108434840 108434840 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:108434840A>T ENST00000263054.6 - 14 1914 c.1907T>A c.(1906-1908)cTg>cAg p.L636Q SORCS1_ENST00000369698.1_Missense_Mutation_p.L171Q|SORCS1_ENST00000344440.6_Missense_Mutation_p.L636Q NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 636 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGGCTCACCCAGAACCCCATC 0.373000 24 32 0 0 0.007291 0 0 MARCH11 441061 broad.mit.edu 37 5 16067809 16067809 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:16067809G>T ENST00000332432.8 - 4 1179 c.980C>A c.(979-981)gCc>gAc p.A327D NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 327 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 GATGTCTGTGGCTTTGTCATA 0.468000 35 53 9.78485e-24 1.72544e-23 0.002836 1 0 SCN8A 6334 broad.mit.edu 37 12 52163671 52163671 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52163671C>A ENST00000354534.5 + 18 3570 c.3392C>A c.(3391-3393)tCc>tAc p.S1131Y SCN8A_ENST00000545061.1_Missense_Mutation_p.S1131Y NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1131 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) GACACCAGCTCCTCTGAAGGA 0.512000 6 7 2.0095e-06 2.38926e-06 0.001984 1 0 GABRB2 2561 broad.mit.edu 37 5 160761777 160761777 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:160761777C>A ENST00000274547.2 - 8 1031 c.814G>T c.(814-816)Gct>Tct p.A272S GABRB2_ENST00000520240.1_Missense_Mutation_p.A272S|GABRB2_ENST00000517547.1_Missense_Mutation_p.A112S|GABRB2_ENST00000353437.6_Missense_Mutation_p.A272S|GABRB2_ENST00000517901.1_Missense_Mutation_p.A209S|GABRB2_ENST00000393959.1_Missense_Mutation_p.A272S NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 272 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACCCTTGCAGCTGAAGCATCG 0.438000 19 10 4.96729e-08 6.18811e-08 0.008871 1 0 SNX19 399979 broad.mit.edu 37 11 130781541 130781541 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:130781541T>C ENST00000265909.4 - 2 2369 c.1800A>G c.(1798-1800)cgA>cgG p.R600R SNX19_ENST00000533214.1_Silent_p.R600R|SNX19_ENST00000528555.1_5'UTR|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000539184.1_Silent_p.R43R|SNX19_ENST00000530356.1_5'UTR NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 600 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TGATGAACTTTCGTAGATCTG 0.562000 21 35 0 0 0.010504 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628390 51628390 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:51628390T>G ENST00000440804.3 + 1 226 c.159T>G c.(157-159)ccT>ccG p.P53P SIGLEC9_ENST00000250360.3_Silent_p.P53P NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 53 Ig-like V-type. 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) GGATTTACCCTGGCCCAGTAG 0.587000 40 4 0 0 0.006999 0 0 LACTB2 51110 broad.mit.edu 37 8 71556426 71556426 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:71556426C>G ENST00000276590.4 - 4 502 c.466G>C c.(466-468)Gag>Cag p.E156Q RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron|LACTB2_ENST00000517601.1_5'UTR|LACTB2_ENST00000522447.1_Missense_Mutation_p.E156Q NM_016027.2 NP_057111.1 Q53H82 LACB2_HUMAN lactamase, beta 2 156 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) GCATTTTCCTCTTCTAAGAGT 0.368000 47 350 0 0 0.003610 0 0 CHIT1 1118 broad.mit.edu 37 1 203192738 203192738 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:203192738G>T ENST00000367229.1 - 5 399 c.365C>A c.(364-366)tCg>tAg p.S122* CHIT1_ENST00000535569.1_Nonsense_Mutation_p.S113*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.S103*|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 122 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CCTGATGGCCGAGTTGACAAA 0.577000 29 103 4.59853e-10 6.0413e-10 0.005443 1 0 METTL16 79066 broad.mit.edu 37 17 2381013 2381013 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:2381013C>T ENST00000263092.5 - 3 422 c.295G>A c.(295-297)Gac>Aac p.D99N METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_5'UTR NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 99 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 GTACTTTTGTCAGAATCCTGG 0.358000 19 53 0 0 0.007413 0 0 HSD3B7 80270 broad.mit.edu 37 16 30998017 30998017 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:30998017G>T ENST00000262520.6 + 5 813 c.523G>T c.(523-525)Ggg>Tgg p.G175W HSD3B7_ENST00000297679.5_Missense_Mutation_p.G175W|HSD3B7_ENST00000353250.5_Missense_Mutation_p.G175W NM_001142777.1 NP_001136249.1 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 175 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGAGGCCAACGGGAGGAAGGT 0.657000 25 43 1.96895e-08 2.4825e-08 0.002780 1 0 FCAR 2204 broad.mit.edu 37 19 55399576 55399576 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:55399576A>T ENST00000355524.3 + 4 574 c.564A>T c.(562-564)tcA>tcT p.S188S FCAR_ENST00000391726.3_Intron|FCAR_ENST00000359272.4_Silent_p.S176S|FCAR_ENST00000391724.3_Silent_p.S176S|FCAR_ENST00000469767.1_Silent_p.S188S|FCAR_ENST00000391723.3_Silent_p.S176S|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000353758.4_Silent_p.S79S|FCAR_ENST00000391725.3_Silent_p.S188S NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 188 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TCAATGTCTCAGGGATCTACA 0.557000 15 7 0 0 0.003163 0 0 OR4D11 219986 broad.mit.edu 37 11 59271345 59271345 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:59271345A>G ENST00000313253.1 + 1 297 c.297A>G c.(295-297)acA>acG p.T99T NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GCTGCATGACACAGATATTTC 0.473000 31 104 0 0 0.009535 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455382 187455382 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:187455382G>C ENST00000307161.5 - 2 715 c.514C>G c.(514-516)Ccg>Gcg p.P172A RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 172 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TAGATCCTCGGGTCGTACTGG 0.597000 17 13 0 0 0.006122 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142120086 142120086 + RNA SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:142120086G>T ENST00000390377.1 - 0 80 CTTTGTACCTGGGAGACTGGG 0.478000 9 37 7.48243e-07 9.04247e-07 0.006214 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62865265 62865265 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:62865265G>A ENST00000584306.1 - 8 3456 c.2926C>T c.(2926-2928)Ctg>Ttg p.L976L LRRC37A3_ENST00000339474.5_Silent_p.L94L|LRRC37A3_ENST00000319651.5_Silent_p.L976L|LRRC37A3_ENST00000400877.3_Silent_p.L14L NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 976 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ACAGTTGTCAGAGGATTGTGA 0.299000 21 74 0 0 0.012319 0 0 PDE6A 5145 broad.mit.edu 37 5 149247310 149247310 + Missense_Mutation SNP G G T rs143080578 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:149247310G>T ENST00000255266.5 - 19 2371 c.2252C>A c.(2251-2253)aCg>aAg p.T751K NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 751 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTGCAGCACCGTGCGCTCCAG 0.557000 14 5 3.27435e-08 4.09539e-08 0.002450 1 0 TMEM225 338661 broad.mit.edu 37 11 123754046 123754046 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:123754046G>C ENST00000375026.2 - 4 693 c.477C>G c.(475-477)ctC>ctG p.L159L NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 159 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TGCACTCTAGGAGAGAGAGGA 0.443000 6 23 0 0 0.001984 0 0 BEND4 389206 broad.mit.edu 37 4 42145613 42145613 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:42145613G>C ENST00000502486.1 - 3 1465 c.886C>G c.(886-888)Cca>Gca p.P296A BEND4_ENST00000504360.1_Missense_Mutation_p.P292A NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 296 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 GACGTTGCTGGGGAAGTCCAG 0.557000 6 5 0 0 0.001168 0 0 MUC5B 727897 broad.mit.edu 37 11 1263868 1263868 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:1263868A>C ENST00000447027.1 + 31 5825 c.5767A>C c.(5767-5769)Act>Cct p.T1923P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T1920P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1920 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACTGCGTCCACTGGATCCAC 0.647000 33 65 0 0 0.003755 0 0 CACNA1E 777 broad.mit.edu 37 1 181620493 181620493 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:181620493C>A ENST00000526775.1 + 7 1136 c.971C>A c.(970-972)gCc>gAc p.A324D CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A324D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A324D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A275D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A275D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A324D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 324 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCCTTAGGAGCCACCTGGAAT 0.448000 17 57 9.16793e-09 1.1653e-08 0.004990 1 0 MGAM 8972 broad.mit.edu 37 7 141730165 141730165 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:141730165G>A ENST00000475668.2 + 11 1279 c.1225G>A c.(1225-1227)Gtt>Att p.V409I MGAM_ENST00000549489.2_Missense_Mutation_p.V409I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 409 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTTCAGGATGTTCAGCATGC 0.338000 9 10 0 0 0.008291 0 0 MAP3K19 80122 broad.mit.edu 37 2 135781051 135781051 + Missense_Mutation SNP G G T rs146771223 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:135781051G>T ENST00000392915.1 - 1 168 c.49C>A c.(49-51)Ctt>Att p.L17I MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR mitogen-activated protein kinase kinase kinase 19 TTTCCCACAAGCCCAGTCCTA 0.458000 14 77 2.32078e-09 3.00478e-09 0.003163 1 0 MTHFR 4524 broad.mit.edu 37 1 11854864 11854864 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:11854864C>T ENST00000376592.1 - 6 1216 c.1088G>A c.(1087-1089)cGt>cAt p.R363H MTHFR_ENST00000376590.3_Missense_Mutation_p.R363H|MTHFR_ENST00000376583.3_Missense_Mutation_p.R404H|MTHFR_ENST00000376585.1_Missense_Mutation_p.R404H P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 363 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding p.R363H(1) NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GAAGATGGGACGTACATCTTC 0.602000 35 69 0 0 0.003271 0 0 ADCY7 113 broad.mit.edu 37 16 50324465 50324465 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:50324465G>T ENST00000394697.2 + 3 609 c.269G>T c.(268-270)cGg>cTg p.R90L ADCY7_ENST00000538642.1_Missense_Mutation_p.R90L|ADCY7_ENST00000254235.3_Missense_Mutation_p.R90L|ADCY7_ENST00000537579.1_Missense_Mutation_p.R90L|ADCY7_ENST00000566433.2_Missense_Mutation_p.R90L|ADCY7_ENST00000564044.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 90 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TGTCTCCTGCGGCGCTGGCTC 0.657000 41 9 1.32136e-16 2.08355e-16 0.008740 1 0 PRMT3 10196 broad.mit.edu 37 11 20409612 20409612 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:20409612G>T ENST00000331079.6 + 2 293 c.76G>T c.(76-78)Gac>Tac p.D26Y PRMT3_ENST00000437750.2_Intron NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 26 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 AGAACTGTCGGACAGCGGGGA 0.652000 10 19 7.48243e-07 9.04247e-07 0.006214 1 0 HS3ST2 9956 broad.mit.edu 37 16 22826281 22826281 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:22826281C>A ENST00000261374.3 + 1 784 c.350C>A c.(349-351)gCc>gAc p.A117D NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 117 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TTGCCCCAAGCCCTCATTGTG 0.692000 12 18 0.00010058 0.000110948 0.001368 1 0 DOCK2 1794 broad.mit.edu 37 5 169174459 169174459 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:169174459C>T ENST00000256935.8 + 23 2407 c.2327C>T c.(2326-2328)tCc>tTc p.S776F DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S268F NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 776 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTTTGAATCCATCAACAAT 0.378000 12 7 0 0 0.001855 0 0 NR0B1 190 broad.mit.edu 37 X 30322722 30322722 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:30322722G>T ENST00000378970.4 - 2 1621 c.1387C>A c.(1387-1389)Ctg>Atg p.L463M NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 463 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) AGCATTTCCAGCATCATATCA 0.443000 27 11 8.24728e-16 1.2795e-15 0.004656 1 0 OR5AP2 338675 broad.mit.edu 37 11 56409689 56409689 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:56409689T>A ENST00000544374.1 - 1 258 c.230A>T c.(229-231)gAt>gTt p.D77V OR5AP2_ENST00000302981.1_Missense_Mutation_p.D76V Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 GTAAGAGGCATCTACAAAAGA 0.448000 9 29 0 0 0.004482 0 0 ASTN1 460 broad.mit.edu 37 1 177030276 177030276 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:177030276T>A ENST00000367654.2 - 2 422 c.409A>T c.(409-411)Act>Tct p.T137S ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.T137S|ASTN1_ENST00000367657.3_Missense_Mutation_p.T137S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T137S O14525 ASTN1_HUMAN astrotactin 1 137 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGTTCTTCAGTGGGGTCTTGT 0.542000 93 72 0 0 0.003610 0 0 ALMS1 7840 broad.mit.edu 37 2 73680643 73680643 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:73680643G>T ENST00000264448.6 + 8 7097 c.6986G>T c.(6985-6987)aGg>aTg p.R2329M ALMS1_ENST00000377715.1_Missense_Mutation_p.R2329M|ALMS1_ENST00000409009.1_Missense_Mutation_p.R2287M NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2329 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CCAAGCAGCAGGTGCATACAG 0.438000 17 21 4.7546e-09 6.0929e-09 0.004007 1 0 TRIM50 135892 broad.mit.edu 37 7 72738485 72738485 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:72738485C>A ENST00000333149.2 - 2 501 c.301G>T c.(301-303)Gag>Tag p.E101* TRIM50_ENST00000453152.1_Nonsense_Mutation_p.E101*|TRIM50_ENST00000493498.1_5'UTR NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 101 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 TGGTCCTTCTCGCAGAAAAGG 0.657000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 71 1.26454e-06 1.52085e-06 0.005443 1 0 PLXNA4 91584 broad.mit.edu 37 7 132193098 132193098 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:132193098G>C ENST00000359827.3 - 2 1317 c.355C>G c.(355-357)Ctc>Gtc p.L119V PLXNA4_ENST00000423507.2_Missense_Mutation_p.L119V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L119V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.L119V Q9HCM2 PLXA4_HUMAN plexin A4 119 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TAGTCTATGAGGAGCATCTTG 0.582000 15 39 0 0 0.004007 0 0 MYOF 26509 broad.mit.edu 37 10 95148894 95148894 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:95148894C>A ENST00000371501.4 - 18 1596 c.1474G>T c.(1474-1476)Gag>Tag p.E492* MYOF_ENST00000359263.4_Nonsense_Mutation_p.E492*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.E492*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.E479* Q9NZM1 MYOF_HUMAN myoferlin 492 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGCCTACCTCTGTTTCTCCT 0.393000 12 15 2.68362e-12 3.74988e-12 0.001368 1 0 PXDNL 137902 broad.mit.edu 37 8 52366284 52366284 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:52366284A>T ENST00000356297.4 - 10 1144 c.1044T>A c.(1042-1044)acT>acA p.T348T PXDNL_ENST00000543296.1_Silent_p.T348T NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 348 Ig-like C2-type 2. 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) TACATTCCAAAGTTGTGCTGG 0.507000 10 106 0 0 0.008291 0 0 LAMA2 3908 broad.mit.edu 37 6 129419478 129419478 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:129419478C>A ENST00000421865.2 + 4 606 c.557C>A c.(556-558)aCt>aAt p.T186N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 186 Laminin N-terminal. 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 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) TATCCCCGCACTGGGCCACCG 0.443000 24 10 6.36457e-07 7.72885e-07 0.003954 1 0 PLOD2 5352 broad.mit.edu 37 3 145795655 145795655 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:145795655G>A ENST00000282903.5 - 14 1734 c.1557C>T c.(1555-1557)ccC>ccT p.P519P PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000494950.1_Silent_p.P464P|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000461497.1_Silent_p.P179P NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 500 protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) aCACCTTTGGGGGGCTGAGCA 0.348000 20 66 0 0 0.010504 0 0 SCN1A 6323 broad.mit.edu 37 2 166909404 166909404 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:166909404A>T ENST00000423058.2 - 5 669 c.652T>A c.(652-654)Ttc>Atc p.F218I SCN1A_ENST00000375405.3_Missense_Mutation_p.F218I|SCN1A_ENST00000409050.1_Missense_Mutation_p.F218I|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.F218I|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 218 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) AGAACTCTGAATGTTCTCAAT 0.448000 8 27 0 0 0.004482 0 0 PSAP 5660 broad.mit.edu 37 10 73581676 73581676 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:73581676G>T ENST00000394936.3 - 8 1013 c.866C>A c.(865-867)tCc>tAc p.S289Y PSAP_ENST00000394934.1_Missense_Mutation_p.S291Y P07602 SAP_HUMAN prosaposin 289 glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 GACATTCTTGGAGGCCACTTT 0.557000 11 34 2.80697e-09 3.61929e-09 0.010729 1 0 PCDH10 57575 broad.mit.edu 37 4 134072994 134072994 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:134072994C>G ENST00000264360.4 + 1 2525 c.1699C>G c.(1699-1701)Caa>Gaa p.Q567E NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 567 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Q567E(2) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CATAGTGGATCAAAATGACAA 0.637000 43 8 0 0 0.008740 0 0 EDAR 10913 broad.mit.edu 37 2 109527314 109527314 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:109527314G>T ENST00000409271.1 - 8 1187 c.744C>A c.(742-744)ctC>ctA p.L248L EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Silent_p.L248L Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 217 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 AGGCTGGGGAGAGAGGAGGGA 0.662000 20 18 4.96729e-08 6.18811e-08 0.008871 1 0 CDH23 64072 broad.mit.edu 37 10 73551059 73551059 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:73551059C>T ENST00000224721.6 + 46 6240 c.6235C>T c.(6235-6237)Ctc>Ttc p.L2079F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2074 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCCTGCCACCCTCACTGTCCA 0.637000 13 21 0 0 0.001855 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81065309 81065309 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:81065309G>T ENST00000334512.5 + 21 2946 c.2374G>T c.(2374-2376)Ggc>Tgc p.G792C NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 792 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TCTGCTGGAGGGCCTGGAGGT 0.607000 18 286 1.67942e-08 2.12601e-08 0.006122 1 0 AGRN 375790 broad.mit.edu 37 1 981235 981235 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:981235G>T ENST00000379370.2 + 15 2709 c.2659G>T c.(2659-2661)Ggc>Tgc p.G887C NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 887 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCGTGCCCTGGGCCCCGCGGG 0.692000 47 34 2.77807e-22 4.81071e-22 0.013114 1 0 SPEG 10290 broad.mit.edu 37 2 220309648 220309648 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:220309648G>T ENST00000312358.7 + 3 712 c.580G>T c.(580-582)Gtc>Ttc p.V194F SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Missense_Mutation_p.V90F NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 194 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGGGCAGACGGTCCTGGAGCA 0.721000 28 57 8.58068e-18 1.3862e-17 0.007291 1 0 A2ML1 144568 broad.mit.edu 37 12 8995901 8995901 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:8995901T>A ENST00000299698.7 + 12 1600 c.1420T>A c.(1420-1422)Tat>Aat p.Y474N NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 318 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GCTGGTGGATTATTACATCGA 0.582000 77 14 0 0 0.003610 0 0 KCNH7 90134 broad.mit.edu 37 2 163374347 163374347 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:163374347C>G ENST00000332142.5 - 4 884 c.785G>C c.(784-786)aGa>aCa p.R262T KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R262T NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 262 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) TTCCCTTGATCTGGAATGGGA 0.493000 17 65 0 0 0.004007 0 0 FANCL 55120 broad.mit.edu 37 2 58449132 58449132 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:58449132G>A ENST00000402135.3 - 5 355 c.319C>T c.(319-321)Cct>Tct p.P107S FANCL_ENST00000403676.1_Intron|FANCL_ENST00000403295.3_Missense_Mutation_p.P107S|FANCL_ENST00000481670.1_5'UTR|FANCL_ENST00000233741.4_Missense_Mutation_p.P107S|FANCL_ENST00000540646.1_Missense_Mutation_p.P107S NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 107 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 AACTGGGGAGGAGGAGGTAGT 0.363000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 19 0 0 0.001368 0 0 DHRS7C 201140 broad.mit.edu 37 17 9676190 9676190 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:9676190G>T ENST00000330255.4 - 5 636 c.624C>A c.(622-624)gcC>gcA p.A208A DHRS7C_ENST00000571134.1_Silent_p.A207A NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 208 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CCTCCACTTCGGCTCGGAGGC 0.587000 29 5 1.55811e-20 2.61495e-20 0.008361 1 0 ITGB7 3695 broad.mit.edu 37 12 53588066 53588066 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:53588066G>T ENST00000267082.5 - 10 1455 c.1224C>A c.(1222-1224)taC>taA p.Y408* ITGB7_ENST00000338737.4_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000550743.2_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000422257.3_Nonsense_Mutation_p.Y408* NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 408 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACTGGGATTCGTAAGAAATGT 0.557000 44 56 2.215e-12 3.1118e-12 0.011902 1 0 LARGE 9215 broad.mit.edu 37 22 34046644 34046644 + Silent SNP G G A rs140622529 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:34046644G>A ENST00000354992.2 - 4 688 c.117C>T c.(115-117)ccC>ccT p.P39P LARGE_ENST00000397394.2_Silent_p.P39P|LARGE_ENST00000402320.1_Silent_p.P39P|LARGE_ENST00000337431.2_Silent_p.P39P|LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000437602.2_Silent_p.P39P NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 39 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) ACAGAGACACGGGCTTTCCAT 0.622000 22 6 0 0 0.002299 0 0 DNAJB5 25822 broad.mit.edu 37 9 34993258 34993258 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:34993258G>T ENST00000541010.1 + 1 3040 c.28G>T c.(28-30)Ggg>Tgg p.G10W DNAJB5_ENST00000453597.3_Missense_Mutation_p.G124W|DNAJB5_ENST00000545841.1_Missense_Mutation_p.G10W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.G44W|DNAJB5_ENST00000454002.2_Missense_Mutation_p.G82W|DNAJB5_ENST00000312316.5_Missense_Mutation_p.G10W O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 10 J. protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) CAAGATTCTTGGGATCCCATC 0.493000 21 42 3.51602e-12 4.89661e-12 0.008871 1 0 CSMD3 114788 broad.mit.edu 37 8 113569102 113569102 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:113569102C>A ENST00000297405.5 - 25 4368 c.4124G>T c.(4123-4125)aGc>aTc p.S1375I CSMD3_ENST00000352409.3_Missense_Mutation_p.S1375I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1271I|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1335I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1375 Sushi 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATGATGGTGCTACCAGCAAA 0.468000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 39 75 1.47244e-24 2.61489e-24 0.006230 1 0 HAS1 3036 broad.mit.edu 37 19 52216862 52216862 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:52216862G>A ENST00000540069.2 - 5 1612 c.1552C>T c.(1552-1554)Cgc>Tgc p.R518C HAS1_ENST00000222115.1_Missense_Mutation_p.R519C|HAS1_ENST00000601714.1_Missense_Mutation_p.R526C Q92839 HAS1_HUMAN hyaluronan synthase 1 519 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) GCTACGCTGCGGACCAGGCCC 0.741000 4 2 0 0 0.009096 0 0 FBN1 2200 broad.mit.edu 37 15 48740970 48740970 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:48740970C>A ENST00000316623.5 - 46 6121 c.5666G>T c.(5665-5667)tGc>tTc p.C1889F NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1889 EGF-like 31; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTTACCCAAGCACATGGTTTG 0.328000 8 6 2.17888e-05 2.47546e-05 0.006214 1 0 NBPF15 284565 broad.mit.edu 37 1 148594434 148594434 + Missense_Mutation SNP G G A rs143361250 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:148594434G>A ENST00000442702.2 + 21 2874 c.1807G>A c.(1807-1809)Gtc>Atc p.V603I NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 603 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) AGAGCCTGAAGTCTTACAGGA 0.458000 10 293 0 0 0.010729 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173848254 173848254 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:173848254G>T ENST00000264111.6 + 11 1219 c.1032G>T c.(1030-1032)gaG>gaT p.E344D RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E174D|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E125D|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E201D|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E345D|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E345D Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 345 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATGACCTAGAGATTATCTATG 0.393000 14 75 0.000151284 0.000166293 0.001855 1 0 SGIP1 84251 broad.mit.edu 37 1 67205120 67205120 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:67205120G>T ENST00000371037.4 + 22 2211 c.2134G>T c.(2134-2136)Gat>Tat p.D712Y SGIP1_ENST00000435165.2_Missense_Mutation_p.D217Y|SGIP1_ENST00000371035.3_Missense_Mutation_p.D502Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.D514Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.D515Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.D743Y NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 712 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ATATAATACAGATGCAATGAC 0.542000 13 19 0.000151284 0.000166293 0.001855 1 0 TG 7038 broad.mit.edu 37 8 133941393 133941393 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:133941393C>A ENST00000220616.4 + 23 4812 c.4772C>A c.(4771-4773)tCc>tAc p.S1591Y TG_ENST00000377869.1_Missense_Mutation_p.S1534Y|TG_ENST00000542445.1_Missense_Mutation_p.S25Y NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1591 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) GCTGTCAGATCCAAAGTTCCT 0.453000 14 84 2.31682e-05 2.62266e-05 0.003163 1 0 COX19 90639 broad.mit.edu 37 7 1015098 1015098 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:1015098G>A ENST00000344111.3 - 1 137 c.48C>T c.(46-48)ccC>ccT p.P16P NM_001031617.2 NP_001026788.1 Q49B96 COX19_HUMAN cytochrome c oxidase assembly homolog 19 (S. cerevisiae) 16 cytosol endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) CCTTGTCCGGGGGCCGCGGCT 0.701000 5 21 0 0 0.000602 0 0 RELN 5649 broad.mit.edu 37 7 103252090 103252090 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:103252090T>G ENST00000424685.2 - 21 3022 c.2863A>C c.(2863-2865)Aac>Cac p.N955H RELN_ENST00000428762.1_Missense_Mutation_p.N955H|RELN_ENST00000343529.5_Missense_Mutation_p.N955H P78509 RELN_HUMAN reelin 955 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) AGGCCGTGGTTGGTTGAGTAC 0.458000 15 7 0 0 0.002450 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547669 125547669 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:125547669C>T ENST00000431078.1 + 18 3304 c.2940C>T c.(2938-2940)taC>taT p.Y980Y NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 980 EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACAATGGCTACCTGTGTGATT 0.547000 13 19 0 0 0.001855 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683293 50683293 + Silent SNP G G T rs111415362 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:50683293G>T ENST00000008391.3 + 2 732 c.504G>T c.(502-504)ctG>ctT p.L168L NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 168 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) GGCCCAGCCTGGGGCTGGCCG 0.622000 53 63 6.56871e-35 1.24985e-34 0.003610 1 0 PRKAA2 5563 broad.mit.edu 37 1 57159456 57159456 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:57159456C>T ENST00000371244.4 + 5 560 c.494C>T c.(493-495)tCa>tTa p.S165L NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 165 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 AATATGATGTCAGATGGTGAA 0.313000 18 30 0 0 0.006122 0 0 DCN 1634 broad.mit.edu 37 12 91572284 91572284 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:91572284C>T ENST00000551354.1 - 2 250 c.46G>A c.(46-48)Gct>Act p.A16T DCN_ENST00000550099.1_Missense_Mutation_p.A16T|DCN_ENST00000546745.1_Missense_Mutation_p.A16T|DCN_ENST00000228329.5_Missense_Mutation_p.A16T|DCN_ENST00000420120.2_Missense_Mutation_p.A16T|DCN_ENST00000393155.1_Missense_Mutation_p.A16T|DCN_ENST00000303320.3_Missense_Mutation_p.A16T|DCN_ENST00000456569.2_Missense_Mutation_p.A16T|DCN_ENST00000052754.5_Missense_Mutation_p.A16T|DCN_ENST00000552962.1_Missense_Mutation_p.A16T|DCN_ENST00000441303.2_Missense_Mutation_p.A16T|DCN_ENST00000425043.1_Missense_Mutation_p.A16T|DCN_ENST00000546370.1_Missense_Mutation_p.A16T|DCN_ENST00000547568.2_Missense_Mutation_p.A16T P07585 PGS2_HUMAN decorin 16 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 AACGGTCCAGCCCAGGAAACT 0.463000 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 49 0 0 0.003330 0 0 SCN9A 6335 broad.mit.edu 37 2 167134813 167134813 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:167134813C>A ENST00000375387.4 - 15 2697 c.2357G>T c.(2356-2358)gGa>gTa p.G786V SCN9A_ENST00000303354.6_Missense_Mutation_p.G786V|SCN9A_ENST00000409672.1_Missense_Mutation_p.G774V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.G785V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 785 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCAAAGATTCCAGTAAAGAC 0.318000 4 13 0.00024832 0.000269641 0.009096 1 0 KIF19 124602 broad.mit.edu 37 17 72350441 72350441 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:72350441G>A ENST00000389916.4 + 18 2587 c.2449G>A c.(2449-2451)Gag>Aag p.E817K NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 817 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 CTCACTGAGCGAGGGCGACGA 0.721000 23 18 0 0 0.002299 0 0 WRN 7486 broad.mit.edu 37 8 30938390 30938390 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:30938390A>T ENST00000298139.5 + 9 1096 c.847A>T c.(847-849)Atc>Ttc p.I283F NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 283 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TAGGGTTTCTATCTTACTAAA 0.299000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 6 0 0 0 0.001168 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939712 12939712 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:12939712T>C ENST00000235349.5 - 4 1160 c.1090A>G c.(1090-1092)Atc>Gtc p.I364V NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 364 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) GAGTCTATGATGCCACAGTCA 0.507000 138 304 0 0 0.003610 0 0 EIF4G3 8672 broad.mit.edu 37 1 21220009 21220009 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:21220009C>A ENST00000544689.1 - 6 855 c.715G>T c.(715-717)Gta>Tta p.V239L EIF4G3_ENST00000537738.1_Splice_Site|EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374937.3_Splice_Site|EIF4G3_ENST00000374935.3_Splice_Site|EIF4G3_ENST00000264211.8_Splice_Site|EIF4G3_ENST00000400422.1_Splice_Site|EIF4G3_ENST00000602326.1_Splice_Site|EIF4G3_ENST00000536266.1_Splice_Site O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 696 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTTGCACTTACAGGTACGCCT 0.473000 54 24 1.27334e-21 2.18386e-21 0.003610 1 0 VAX1 11023 broad.mit.edu 37 10 118896009 118896009 + Missense_Mutation SNP G G A rs143950742 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:118896009G>A ENST00000277905.2 - 2 647 c.403C>T c.(403-405)Cgg>Tgg p.R135W VAX1_ENST00000369206.5_Missense_Mutation_p.R135W NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 135 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) TTAAGCTGCCGGGCGAGCTCG 0.662000 6 18 0 0 0.001168 0 0 KIRREL 55243 broad.mit.edu 37 1 158063180 158063180 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:158063180T>A ENST00000368172.1 + 8 977 c.965T>A c.(964-966)cTg>cAg p.L322Q KIRREL_ENST00000392272.2_Missense_Mutation_p.L405Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.L508Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.L408Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.L344Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.L524Q Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 508 Ig-like C2-type 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCGAGCATCCTGCTCATCTTC 0.582000 35 92 0 0 0.004289 0 0 LYZL4 131375 broad.mit.edu 37 3 42448644 42448644 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:42448644C>A ENST00000287748.3 - 2 375 c.100G>T c.(100-102)Gga>Tga p.G34* LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Nonsense_Mutation_p.G34* NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 34 cell wall macromolecule catabolic process extracellular region lysozyme activity central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) TCCAGGCCTCCATCGTGGAGT 0.547000 31 7 9.78306e-22 1.68016e-21 0.009535 1 0 TRPS1 7227 broad.mit.edu 37 8 116599801 116599801 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:116599801C>A ENST00000395715.3 - 5 2704 c.2127G>T c.(2125-2127)caG>caT p.Q709H TRPS1_ENST00000520276.1_Missense_Mutation_p.Q700H|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q696H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q450H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q696H NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 696 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TAAAACTGCACTGACGGCATT 0.468000 Langer-Giedion syndrome 23 209 1.96895e-08 2.4825e-08 0.002780 1 0 DHRS7C 201140 broad.mit.edu 37 17 9683332 9683332 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:9683332G>C ENST00000330255.4 - 3 303 c.291C>G c.(289-291)gtC>gtG p.V97V DHRS7C_ENST00000571134.1_Silent_p.V96V NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 97 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GGTCCAACAGGACCAGCTTTG 0.512000 15 2 0 0 0.003163 0 0 KRT82 3888 broad.mit.edu 37 12 52799941 52799941 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52799941C>T ENST00000257974.2 - 1 198 c.121G>A c.(121-123)Ggg>Agg p.G41R NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 41 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) CTACCACCCCCGGGCCGGCAT 0.662000 9 20 0 0 0.006214 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692034 31692034 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:31692034C>A ENST00000360542.3 - 1 573 c.320G>T c.(319-321)tGc>tTc p.C107F NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 107 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TACTGGAAGGCAGGAACTGGA 0.537000 61 23 1.75667e-42 3.43112e-42 0.003610 1 0 TNR 7143 broad.mit.edu 37 1 175348736 175348736 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:175348736C>A ENST00000367674.1 - 9 2623 c.1915G>T c.(1915-1917)Gta>Tta p.V639L TNR_ENST00000263525.2_Missense_Mutation_p.V639L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 639 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGGACCAGTACCTCATGATAT 0.547000 16 35 2.32078e-09 3.00478e-09 0.003163 1 0 CACNA1I 8911 broad.mit.edu 37 22 40075819 40075819 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:40075819C>A ENST00000336649.4 + 36 5505 c.5505C>A c.(5503-5505)ttC>ttA p.F1835L CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1794L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1794L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1829L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F1829L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1794L Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1829 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCTCCATCTTCCACCACTACT 0.607000 9 3 0.00621372 0.0065101 0.006214 1 0 RYR3 6263 broad.mit.edu 37 15 33952583 33952583 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:33952583G>T ENST00000389232.4 + 34 4651 c.4581G>T c.(4579-4581)gaG>gaT p.E1527D RYR3_ENST00000415757.3_Missense_Mutation_p.E1527D NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1527 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) AGTGCCTGGAGCCCCTGCAGA 0.672000 4 7 0.00909568 0.0094583 0.009096 1 0 UBR5 51366 broad.mit.edu 37 8 103287962 103287962 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:103287962C>A ENST00000520539.1 - 46 7210 c.6604G>T c.(6604-6606)Gaa>Taa p.E2202* UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2202*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2196* NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2202 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCAACATCTTCCATGAATACC 0.423000 36 22 1.42033e-22 2.46637e-22 0.004289 1 0 ENO1 2023 broad.mit.edu 37 1 8927283 8927283 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:8927283C>A ENST00000234590.4 - 6 456 c.337G>T c.(337-339)Ggg>Tgg p.G113W NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 113 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGGGACACCCCCAGAATGGCG 0.547000 48 41 9.57592e-29 1.76051e-28 0.003610 1 0 OR10G9 219870 broad.mit.edu 37 11 123894513 123894513 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:123894513A>T ENST00000375024.1 + 1 794 c.794A>T c.(793-795)gAc>gTc p.D265V NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 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;0.0399) GGCTCCAGGGACGTCGTGGAT 0.522000 67 47 0 0 0.003610 0 0 CNPPD1 27013 broad.mit.edu 37 2 220038082 220038082 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:220038082C>A ENST00000409789.1 - 8 1107 c.680G>T c.(679-681)cGg>cTg p.R227L CNPPD1_ENST00000360507.5_Missense_Mutation_p.R227L Q9BV87 CNPD1_HUMAN cyclin Pas1/PHO80 domain containing 1 227 regulation of cyclin-dependent protein kinase activity integral to membrane protein kinase binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4) 12 CTTTACCAGCCGCTGGCAGAG 0.622000 39 73 4.0492e-12 5.63289e-12 0.006999 1 0 ATP4A 495 broad.mit.edu 37 19 36053455 36053455 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:36053455A>T ENST00000262623.3 - 4 330 c.302T>A c.(301-303)gTc>gAc p.V101D NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 101 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCGAACTTGACGTACTCTGG 0.692000 12 12 0 0 0.010729 0 0 CHRND 1144 broad.mit.edu 37 2 233393312 233393312 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:233393312C>A ENST00000258385.3 + 5 487 c.455C>A c.(454-456)cCc>cAc p.P152H CHRND_ENST00000457943.2_Missense_Mutation_p.P62T|CHRND_ENST00000543200.1_Missense_Mutation_p.P137H|CHRND_ENST00000536614.1_Missense_Mutation_p.P152H NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 152 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TCCTCCTGCCCCATCTCTGTC 0.577000 33 126 2.42023e-17 3.86496e-17 0.003271 1 0 ETV1 2115 broad.mit.edu 37 7 13971305 13971305 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:13971305A>G ENST00000343495.5 - 8 1308 c.570T>C c.(568-570)cgT>cgC p.R190R ETV1_ENST00000405192.2_Silent_p.R208R|ETV1_ENST00000420159.2_Silent_p.R150R|ETV1_ENST00000405218.2_Silent_p.R208R|ETV1_ENST00000399357.3_Silent_p.R105R|ETV1_ENST00000242066.5_Silent_p.R190R|ETV1_ENST00000430479.1_Silent_p.R208R|ETV1_ENST00000403527.1_Silent_p.R168R|ETV1_ENST00000403685.1_Silent_p.R190R|ETV1_ENST00000405358.4_Silent_p.R222R|ETV1_ENST00000476720.2_5'UTR P50549 ETV1_HUMAN ets variant 1 208 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGTACATAGGACGTCCTTCCC 0.507000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 12 39 0 0 0.001368 0 0 ACTG2 72 broad.mit.edu 37 2 74129495 74129495 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:74129495G>T ENST00000409624.1 + 4 778 c.135G>T c.(133-135)atG>atT p.M45I ACTG2_ENST00000345517.3_Missense_Mutation_p.M45I|ACTG2_ENST00000409918.1_Missense_Mutation_p.M45I|ACTG2_ENST00000409731.3_Intron P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 45 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGGGTGTGATGGTGGGAATGG 0.502000 11 30 5.50884e-06 6.38617e-06 0.001368 1 0 CCDC93 54520 broad.mit.edu 37 2 118731509 118731509 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:118731509T>A ENST00000376300.2 - 11 1000 c.863A>T c.(862-864)cAg>cTg p.Q288L CCDC93_ENST00000319432.5_Missense_Mutation_p.Q287L|CCDC93_ENST00000460781.1_5'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 288 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 GGACACAATCTGCTTGATCTC 0.557000 3 2 0 0 0.004672 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669003 234669003 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:234669003G>A ENST00000360418.3 + 1 70 c.70G>A c.(70-72)Gtg>Atg p.V24M UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V24M|UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron P22309 UD11_HUMAN 24 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GGGCCCAGTGGTGTCCCATGC 0.627000 10 17 0 0 0.006214 0 0 KEL 3792 broad.mit.edu 37 7 142658584 142658584 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:142658584G>T ENST00000355265.2 - 3 560 c.86C>A c.(85-87)aCt>aAt p.T29N KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 29 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CTCTTCTGGAGTGCTCTGTGG 0.542000 4 7 1.23904e-05 1.41928e-05 0.000602 1 0 TRPM1 4308 broad.mit.edu 37 15 31353686 31353686 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:31353686T>A ENST00000542188.1 - 9 1485 c.1172A>T c.(1171-1173)cAg>cTg p.Q391L TRPM1_ENST00000256552.6_Missense_Mutation_p.Q374L|TRPM1_ENST00000397795.2_Missense_Mutation_p.Q352L NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 352 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GATGTCCTGCTGGCCCTCAGA 0.468000 4 32 0 0 0.009096 0 0 MIR551B 693136 broad.mit.edu 37 3 168269691 168269691 + RNA SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:168269691A>C ENST00000384984.1 + 0 50 NR_030294.1 GACCTGGTGCAGAACGGGAAG 0.463000 23 20 0 0 0.006320 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16848101 16848101 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:16848101C>A ENST00000355661.3 - 10 919 c.909G>T c.(907-909)caG>caT p.Q303H PLEKHA7_ENST00000448080.2_Missense_Mutation_p.Q303H|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.Q303H Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 303 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGTGGTTGGCCTGGGGGACAG 0.542000 28 44 3.1745e-13 4.53189e-13 0.008361 1 0 OR4C13 283092 broad.mit.edu 37 11 49974145 49974145 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:49974145G>A ENST00000555099.1 + 1 203 c.171G>A c.(169-171)atG>atA p.M57I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 57 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 GATCCCCCATGTACTTTTTCC 0.428000 117 106 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238283538 238283538 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:238283538G>T ENST00000295550.4 - 8 3648 c.3196C>A c.(3196-3198)Cgc>Agc p.R1066S COL6A3_ENST00000472056.1_Missense_Mutation_p.R459S|COL6A3_ENST00000346358.4_Missense_Mutation_p.R866S|COL6A3_ENST00000347401.3_Missense_Mutation_p.R865S|COL6A3_ENST00000353578.4_Missense_Mutation_p.R860S|COL6A3_ENST00000392003.2_Missense_Mutation_p.R659S|COL6A3_ENST00000409809.1_Missense_Mutation_p.R860S|COL6A3_ENST00000392004.3_Missense_Mutation_p.R860S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1066 Nonhelical region.|VWFA 6. 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) ACGGCCACGCGGACCCGGTCC 0.597000 5 45 3.59834e-05 4.06599e-05 0.001168 1 0 MB21D2 151963 broad.mit.edu 37 3 192516978 192516978 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:192516978C>A ENST00000392452.2 - 2 993 c.673G>T c.(673-675)Ggt>Tgt p.G225C NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 225 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 CTCCCTACACCCAGAATGATG 0.468000 11 31 3.86212e-05 4.32502e-05 0.008291 1 0 GPR148 344561 broad.mit.edu 37 2 131487510 131487510 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:131487510C>A ENST00000309926.4 + 1 868 c.786C>A c.(784-786)acC>acA p.T262T NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 262 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CCAGGGGCACCCTGCTGATCC 0.572000 42 87 8.01111e-26 1.44315e-25 0.010771 1 0 ZHX3 23051 broad.mit.edu 37 20 39833104 39833104 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:39833104C>T ENST00000309060.3 - 4 868 c.453G>A c.(451-453)gtG>gtA p.V151V ZHX3_ENST00000560361.1_Silent_p.V151V|ZHX3_ENST00000559234.1_Silent_p.V151V|ZHX3_ENST00000558993.1_Silent_p.V151V|ZHX3_ENST00000557816.1_Silent_p.V151V|ZHX3_ENST00000432768.2_Silent_p.V151V|ZHX3_ENST00000544979.2_Silent_p.V151V|ZHX3_ENST00000540170.1_Silent_p.V151V Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 151 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TGCTCTGCTCCACAACCACAT 0.552000 33 74 0 0 0.002836 0 0 COL3A1 1281 broad.mit.edu 37 2 189856949 189856949 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:189856949C>A ENST00000304636.3 + 14 1161 c.991C>A c.(991-993)Caa>Aaa p.Q331K COL3A1_ENST00000317840.5_Missense_Mutation_p.Q331K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 331 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CAGTGATGGTCAACCAGTAAG 0.348000 15 36 3.41278e-10 4.50243e-10 0.004990 1 0 IL18R1 8809 broad.mit.edu 37 2 103013009 103013009 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:103013009A>T ENST00000409599.1 + 12 1645 c.1289A>T c.(1288-1290)cAc>cTc p.H430L IL18R1_ENST00000233957.1_Missense_Mutation_p.H430L Q13478 IL18R_HUMAN interleukin 18 receptor 1 430 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GATGAAATCCACTCACTGATA 0.358000 8 20 0 0 0.006214 0 0 KIF17 57576 broad.mit.edu 37 1 21014335 21014335 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:21014335A>T ENST00000247986.2 - 8 1794 c.1484T>A c.(1483-1485)gTg>gAg p.V495E KIF17_ENST00000400463.3_Missense_Mutation_p.V495E|KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.V395E Q9P2E2 KIF17_HUMAN kinesin family member 17 495 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) GGGTTTCACCACTGTCTCATA 0.567000 19 78 0 0 0.007413 0 0 DIDO1 11083 broad.mit.edu 37 20 61542656 61542656 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:61542656G>A ENST00000266070.4 - 3 634 c.309C>T c.(307-309)ccC>ccT p.P103P DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 103 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) CGTCTGTGGCGGGGCAGGACG 0.662000 18 21 0 0 0.004990 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576396 33576396 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:33576396G>T ENST00000504830.1 - 19 4070 c.3735C>A c.(3733-3735)gcC>gcA p.A1245A ADAMTS12_ENST00000352040.3_Silent_p.A1160A NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1245 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCAGAGTGTTGGCTGGCTTTT 0.532000 HNSCC(64;0.19) 68 276 1.72039e-30 3.19574e-30 0.003610 1 0 KRT7 3855 broad.mit.edu 37 12 52639225 52639225 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52639225G>T ENST00000331817.5 + 7 1197 c.1014G>T c.(1012-1014)gaG>gaT p.E338D KRT7_ENST00000552322.1_3'UTR|RP3-416H24.1_ENST00000546686.1_RNA NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 338 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) CCATTGCCGAGGCTGAGGAGC 0.662000 27 30 3.99451e-17 6.35467e-17 0.009535 1 0 C10orf2 56652 broad.mit.edu 37 10 102749515 102749515 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:102749515G>C ENST00000370228.1 + 2 1543 c.1358G>C c.(1357-1359)cGg>cCg p.R453P C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Missense_Mutation_p.R453P NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 453 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGACTAGCCCGGGTCATGCTG 0.532000 25 77 0 0 0.003330 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508673 106508673 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:106508673G>A ENST00000359195.3 + 2 977 c.667G>A c.(667-669)Gtc>Atc p.V223I PIK3CG_ENST00000496166.1_Missense_Mutation_p.V223I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V223I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 223 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 CATCTTCATCGTCATTCACCG 0.592000 55 90 0 0 0.003610 0 0 KAT2A 2648 broad.mit.edu 37 17 40265767 40265767 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:40265767C>T ENST00000225916.5 - 18 2467 c.2414G>A c.(2413-2415)cGc>cAc p.R805H NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 805 Bromo. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GTTGTACTCGCGACAGTTGGC 0.607000 12 17 0 0 0.001368 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68934401 68934401 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:68934401G>T ENST00000356291.2 - 7 749 c.690C>A c.(688-690)ggC>ggA p.G230G RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 230 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 CACACTGATGGCCTGACCCTA 0.517000 37 9 3.21399e-22 5.5579e-22 0.004878 1 0 UBL3 5412 broad.mit.edu 37 13 30341775 30341775 + Nonsense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:30341775A>C ENST00000380680.4 - 4 1426 c.281T>G c.(280-282)tTa>tGa p.L94* NM_007106.3 NP_009037.1 O95164 UBL3_HUMAN ubiquitin-like 3 94 intracellular|plasma membrane large_intestine(3)|lung(1) 4 Lung SC(185;0.0281) all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147) TGGCTCTGGTAATGTCTCTCT 0.398000 15 5 0 0 0.008871 0 0 TPTE 7179 broad.mit.edu 37 21 10906961 10906961 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:10906961C>G ENST00000298232.7 - 23 1913 c.1546G>C c.(1546-1548)Gag>Cag p.E516Q TPTE_ENST00000361285.4_Missense_Mutation_p.E534Q|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.E496Q NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 534 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AAAAGTATCTCCACGGCAAAA 0.358000 8 9 0 0 0.003080 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794802 176794802 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:176794802C>T ENST00000272748.4 - 13 1427 c.1180G>A c.(1180-1182)Gag>Aag p.E394K KIAA1715_ENST00000544803.1_Missense_Mutation_p.E425K|KIAA1715_ENST00000535310.1_3'UTR NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 394 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TTCTCAGTCTCTTGTTTCTCC 0.433000 8 59 0 0 0.003080 0 0 PEX5L 51555 broad.mit.edu 37 3 179597742 179597742 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:179597742G>T ENST00000467460.1 - 5 810 c.480C>A c.(478-480)gtC>gtA p.V160V PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000485199.1_Silent_p.V125V|PEX5L_ENST00000476138.1_Silent_p.V117V|PEX5L_ENST00000472994.1_Silent_p.V101V|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L_ENST00000465751.1_Silent_p.V136V|PEX5L_ENST00000263962.8_Silent_p.V158V NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 160 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) AAGTCTCCGGGACTCTGAGAG 0.507000 16 50 8.00594e-06 9.25525e-06 0.007413 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599569 136599569 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:136599569A>G ENST00000531224.1 - 4 702 c.450T>C c.(448-450)taT>taC p.Y150Y BCLAF1_ENST00000392348.2_Silent_p.Y148Y|BCLAF1_ENST00000530767.1_Silent_p.Y150Y|BCLAF1_ENST00000527759.1_Silent_p.Y148Y|BCLAF1_ENST00000353331.4_Silent_p.Y148Y|BCLAF1_ENST00000527536.1_Silent_p.Y150Y NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 150 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GAGATTTGCTATATGGGGATG 0.433000 59 162 0 0 0.003610 0 0 EPX 8288 broad.mit.edu 37 17 56276975 56276975 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:56276975G>T ENST00000225371.5 + 9 1467 c.1357G>T c.(1357-1359)Ggg>Tgg p.G453W NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 453 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 GCACTACAGGGGGTACTGCTC 0.597000 34 28 2.46105e-21 4.18646e-21 0.010818 1 0 ZNF804A 91752 broad.mit.edu 37 2 185800745 185800745 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:185800745C>A ENST00000302277.6 + 4 1216 c.622C>A c.(622-624)Cac>Aac p.H208N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 208 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CCAGGGGATTCACAGACACAA 0.428000 12 27 1.49906e-05 1.70931e-05 0.002450 1 0 KLHL26 55295 broad.mit.edu 37 19 18779735 18779735 + Missense_Mutation SNP A A G rs146678979 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:18779735A>G ENST00000300976.4 + 3 1618 c.1528A>G c.(1528-1530)Atc>Gtc p.I510V KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 510 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CGGCGGCCGCATCTATGCCCT 0.682000 49 5 0 0 0.003610 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166519 19166519 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:19166519C>A ENST00000375371.3 - 6 2115 c.2094G>T c.(2092-2094)ctG>ctT p.L698L NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 698 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGCCCGTGGCCAGCATGCCAA 0.557000 25 124 1.64293e-13 2.37523e-13 0.003330 1 0 AKR1B1 231 broad.mit.edu 37 7 134133180 134133180 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:134133180C>A ENST00000285930.4 - 6 697 c.618G>T c.(616-618)gtG>gtT p.V206V NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 206 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) AGGCGGTCACCACGATGCCTT 0.517000 39 43 1.03325e-14 1.55484e-14 0.011902 1 0 COL25A1 84570 broad.mit.edu 37 4 110223091 110223091 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:110223091G>C ENST00000399132.1 - 2 615 c.85C>G c.(85-87)Cgg>Ggg p.R29G COL25A1_ENST00000399126.1_Missense_Mutation_p.R29G|COL25A1_ENST00000399127.1_Missense_Mutation_p.R29G NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 29 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGCATGGTCCGGGCACAATGC 0.677000 39 14 0 0 0.006999 0 0 ZNF215 7762 broad.mit.edu 37 11 6953866 6953866 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:6953866C>T ENST00000278319.5 + 3 951 c.363C>T c.(361-363)acC>acT p.T121T ZNF215_ENST00000529903.1_Silent_p.T121T|ZNF215_ENST00000414517.2_Silent_p.T121T|ZNF215_ENST00000527171.1_3'UTR NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 121 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) ATATGGTGACCCTCATAGAAG 0.368000 5 15 0 0 0.001168 0 0 SPEG 10290 broad.mit.edu 37 2 220336998 220336998 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:220336998G>T ENST00000312358.7 + 15 4017 c.3885G>T c.(3883-3885)acG>acT p.T1295T SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1295 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGCTGTGACGGGGAGGATGG 0.652000 22 40 7.87624e-14 1.15604e-13 0.002780 1 0 OXSM 54995 broad.mit.edu 37 3 25833306 25833306 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:25833306A>G ENST00000280701.3 + 2 894 c.795A>G c.(793-795)cgA>cgG p.R265R OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Intron NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 265 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TGGCATGTCGACCATTTCATC 0.483000 39 16 0 0 0.004289 0 0 ATP2B1 490 broad.mit.edu 37 12 90021464 90021464 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:90021464G>T ENST00000428670.3 - 7 1414 c.958C>A c.(958-960)Cgc>Agc p.R320S ATP2B1_ENST00000393164.2_Missense_Mutation_p.R63S|ATP2B1_ENST00000261173.2_Missense_Mutation_p.R320S|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R320S|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R320S P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 320 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 CCTTTGTTGCGATTCTCAATA 0.313000 32 42 4.3181e-19 7.1135e-19 0.002836 1 0 ELMO1 9844 broad.mit.edu 37 7 37264516 37264516 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:37264516G>T ENST00000310758.4 - 9 1316 c.669C>A c.(667-669)atC>atA p.I223I ELMO1_ENST00000448602.1_Silent_p.I223I|ELMO1_ENST00000442504.1_Silent_p.I223I NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 223 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGCCGATGGTGATCTCCTGCG 0.542000 37 75 2.19358e-23 3.8357e-23 0.005524 1 0 GRIK5 2901 broad.mit.edu 37 19 42558061 42558061 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:42558061G>T ENST00000262895.3 - 9 1076 c.1077C>A c.(1075-1077)acC>acA p.T359T GRIK5_ENST00000593562.1_Silent_p.T359T|GRIK5_ENST00000301218.4_Silent_p.T359T NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 359 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CGACCCGCCCGGTCAGCCCAT 0.632000 28 6 1.08312e-15 1.66389e-15 0.009535 1 0 WRB 7485 broad.mit.edu 37 21 40765117 40765117 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:40765117G>C ENST00000333781.5 + 4 503 c.362G>C c.(361-363)tGg>tCg p.W121S WRB_ENST00000541890.1_Missense_Mutation_p.W121S|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000398753.1_Missense_Mutation_p.W87S|WRB_ENST00000380708.1_Missense_Mutation_p.W87S NM_004627.4 NP_004618.2 O00258 WRB_HUMAN tryptophan rich basic protein 121 integral to membrane|nucleolus endometrium(3) 3 Prostate(19;1.2e-06) TCACTCATTTGGAAGTATTAT 0.498000 16 41 0 0 0.007413 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802353 185802353 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:185802353G>C ENST00000302277.6 + 4 2824 c.2230G>C c.(2230-2232)Gat>Cat p.D744H NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 744 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCTTCAAAATGATATGAAACA 0.338000 11 36 0 0 0.001368 0 0 LILRB1 10859 broad.mit.edu 37 19 55143411 55143411 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:55143411A>T ENST00000396331.1 + 6 741 c.384A>T c.(382-384)tcA>tcT p.S128S LILRB1_ENST00000418536.2_Silent_p.S128S|LILRB1_ENST00000324602.7_Silent_p.S128S|LILRB1_ENST00000434867.2_Silent_p.S128S|LILRB1_ENST00000448689.1_Silent_p.S128S|LILRB1_ENST00000396315.1_Silent_p.S128S|LILRB1_ENST00000396327.3_Silent_p.S128S|LILRB1_ENST00000396317.1_Silent_p.S128S|LILRB1_ENST00000427581.2_Silent_p.S164S|LILRB1_ENST00000396321.2_Silent_p.S128S|LILRB1_ENST00000396332.4_Silent_p.S128S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 128 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) CCACCCTCTCAGCCCAGCCCA 0.572000 HNSCC(37;0.09) 59 17 0 0 0.003610 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255552 15255552 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:15255552C>T ENST00000378116.4 - 8 2041 c.2035G>A c.(2035-2037)Gct>Act p.A679T NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 679 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 TTCATCTGAGCCAAAGCCGCG 0.632000 15 16 0 0 0.004007 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504910 151504910 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:151504910G>A ENST00000317605.4 + 1 1834 c.729G>A c.(727-729)atG>atA p.M243I LRBA_ENST00000535741.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 243 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) GCCTGCTGATGGGCGGCTGCC 0.637000 25 30 0 0 0.005443 0 0 AK5 26289 broad.mit.edu 37 1 77806060 77806060 + Splice_Site SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:77806060A>T ENST00000344720.5 + 6 1647 c.e6-1 AK5_ENST00000354567.2_Splice_Site NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 TGCTCTCCACAGATCTGTACC 0.473000 23 34 0 0 0.012319 0 0 KIAA1598 57698 broad.mit.edu 37 10 118719648 118719648 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:118719648T>A ENST00000355371.4 - 4 763 c.267_splice c.e4+1 p.K89_splice KIAA1598_ENST00000260777.10_Splice_Site_p.K89_splice|KIAA1598_ENST00000392901.4_Splice_Site_p.K29_splice|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Splice_Site_p.K89_splice NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 89 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) AAGTCTCACCTTTGTTGCCAA 0.368000 9 18 0 0 0.004482 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800519 185800519 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:185800519A>T ENST00000302277.6 + 4 990 c.396A>T c.(394-396)ggA>ggT p.G132G NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 132 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GTGCTCCTGGAAGTGGCCCCA 0.333000 9 34 0 0 0.010729 0 0 OTC 5009 broad.mit.edu 37 X 38262932 38262932 + Missense_Mutation SNP T T A rs72558407 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:38262932T>A ENST00000039007.4 + 6 754 c.602T>A c.(601-603)cTg>cAg p.L201Q TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 201 L -> P (in OTCD; neonatal). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) AACAATATCCTGCACTCCATC 0.483000 46 6 0 0 0.013114 0 0 VCAN 1462 broad.mit.edu 37 5 82818083 82818083 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:82818083C>A ENST00000265077.3 + 7 4523 c.3958C>A c.(3958-3960)Cct>Act p.P1320T VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1272T|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P1320T NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1320 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAAATTTCACCCTGACATTAA 0.433000 30 8 1.39806e-14 2.09625e-14 0.008361 1 0 OR52N2 390077 broad.mit.edu 37 11 5841936 5841936 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:5841936G>T ENST00000317037.2 + 1 393 c.371G>T c.(370-372)cGc>cTc p.R124L TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCCTGGACCGCTATGTGGCC 0.542000 21 47 2.08468e-23 3.66061e-23 0.012319 1 0 AMPH 273 broad.mit.edu 37 7 38500884 38500884 + Splice_Site SNP T T A rs36056840 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:38500884T>A ENST00000356264.2 - 11 1231 c.1017_splice c.e11+1 p.Q339_splice AMPH_ENST00000428293.2_Splice_Site_p.Q339_splice|AMPH_ENST00000325590.5_Splice_Site_p.Q339_splice NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 339 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GGCACTTACCTGGGAAGGTGT 0.498000 58 132 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238303595 238303595 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:238303595G>T ENST00000295550.4 - 3 796 c.344C>A c.(343-345)aCc>aAc p.T115N COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.T115N|COL6A3_ENST00000347401.3_Missense_Mutation_p.T115N|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 115 Nonhelical region.|VWFA 1. 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) AGTCTGATTGGTTCCCCCAAT 0.458000 27 55 1.77063e-15 2.71006e-15 0.005443 1 0 NFATC3 4775 broad.mit.edu 37 16 68160513 68160513 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:68160513G>T ENST00000349223.5 + 3 1625 c.1401_splice c.e3+1 p.K467_splice NFATC3_ENST00000575270.1_Splice_Site_p.K467_splice|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Splice_Site_p.K467_splice|NFATC3_ENST00000329524.4_Splice_Site_p.K467_splice NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 467 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CTGTTGTGAAGGTATGAGACT 0.423000 28 8 1.5548e-18 2.54127e-18 0.005443 1 0 PLXNA3 55558 broad.mit.edu 37 X 153688605 153688605 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:153688605G>T ENST00000369682.3 + 2 257 c.82G>T c.(82-84)Gtg>Ttg p.V28L NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 28 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCTTCGTGGTGACAGACAC 0.672000 54 14 2.27459e-33 4.31483e-33 0.003610 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618174 77618174 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:77618174G>A ENST00000521891.2 + 2 2299 c.1851G>A c.(1849-1851)aaG>aaA p.K617K ZFHX4_ENST00000518282.1_Silent_p.K617K|ZFHX4_ENST00000050961.6_Silent_p.K617K|ZFHX4_ENST00000455469.2_Silent_p.K617K|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 617 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) AGTGTCCAAAGTGCGACACTG 0.542000 HNSCC(33;0.089) 31 125 0 0 0.003271 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771572 90771572 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:90771572C>G ENST00000411539.2 + 14 2471 c.2211C>G c.(2209-2211)ctC>ctG p.L737L SEMA4B_ENST00000332496.6_Silent_p.L737L|SEMA4B_ENST00000379122.3_Intron NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) TATTCTTGCTCTACCGGCACC 0.607000 8 12 0 0 0.006214 0 0 POP1 10940 broad.mit.edu 37 8 99170455 99170455 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:99170455G>T ENST00000401707.2 + 16 3112 c.3031G>T c.(3031-3033)Gcc>Tcc p.A1011S POP1_ENST00000349693.3_Missense_Mutation_p.A1011S NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 1011 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GAGGCCTCCCGCCTCTCTGCA 0.527000 45 142 2.77807e-22 4.81071e-22 0.013114 1 0 AUTS2 26053 broad.mit.edu 37 7 70231275 70231275 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:70231275C>T ENST00000342771.4 + 9 1965 c.1644C>T c.(1642-1644)caC>caT p.H548H AUTS2_ENST00000406775.2_Silent_p.H548H NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 548 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGTTCCCCCACGCCATCCCAC 0.617000 6 19 0 0 0.001984 0 0 CLCN1 1180 broad.mit.edu 37 7 143016943 143016943 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:143016943T>C ENST00000343257.2 + 2 363 c.276T>C c.(274-276)gaT>gaC p.D92D NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 92 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACAGCAAGGATGAGGATCACT 0.463000 36 49 0 0 0.008740 0 0 CFHR4 10877 broad.mit.edu 37 1 196884257 196884257 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:196884257C>A ENST00000367416.2 + 9 1663 c.1526C>A c.(1525-1527)cCa>cAa p.P509Q CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.P263Q|CFHR4_ENST00000251424.4_Missense_Mutation_p.P263Q NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TCGGAACCACCAAGATGCATA 0.353000 32 62 1.57019e-19 2.60382e-19 0.007835 1 0 MYO15A 51168 broad.mit.edu 37 17 18023703 18023703 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:18023703C>G ENST00000205890.5 + 2 1927 c.1589C>G c.(1588-1590)cCt>cGt p.P530R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 530 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TACGGCCACCCTTTCTGGGGC 0.701000 15 7 0 0 0.003163 0 0 OSBP 5007 broad.mit.edu 37 11 59368776 59368776 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:59368776C>G ENST00000263847.1 - 5 1583 c.1104G>C c.(1102-1104)atG>atC p.M368I NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 368 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AATTTTCAGGCATGGTGATGA 0.393000 9 23 0 0 0.004482 0 0 ANK2 287 broad.mit.edu 37 4 114279970 114279970 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:114279970C>A ENST00000357077.4 + 38 10249 c.10196C>A c.(10195-10197)tCa>tAa p.S3399* ANK2_ENST00000264366.6_Nonsense_Mutation_p.S3366*|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3366 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTTTGGATTCAAAGACCAAA 0.478000 35 12 2.68265e-12 3.74988e-12 0.002836 1 0 ALDH1A1 216 broad.mit.edu 37 9 75545838 75545838 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:75545838T>C ENST00000297785.3 - 3 323 c.269A>G c.(268-270)tAc>tGc p.Y90C ALDH1A1_ENST00000376939.1_Missense_Mutation_p.Y90C|ALDH1A1_ENST00000482210.1_5'UTR NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 90 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) AGCCAACTTGTATAATAGTCG 0.502000 62 12 0 0 0.003610 0 0 PLOD2 5352 broad.mit.edu 37 3 145841966 145841966 + Translation_Start_Site SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:145841966G>C ENST00000494950.1 - 0 254 PLOD2_ENST00000360060.3_Missense_Mutation_p.R54G|PLOD2_ENST00000282903.5_Missense_Mutation_p.R54G O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding p.R54*(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TGCATAAATCGATGGAATCCA 0.318000 5 16 0 0 0.001168 0 0 ALMS1 7840 broad.mit.edu 37 2 73677960 73677960 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:73677960G>T ENST00000264448.6 + 8 4414 c.4303G>T c.(4303-4305)Ggt>Tgt p.G1435C ALMS1_ENST00000377715.1_Missense_Mutation_p.G1435C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G1393C NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1435 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AGAGAAGCCTGGTAGTTTCTA 0.498000 83 73 8.2577e-42 1.60538e-41 0.003610 1 0 OSBPL5 114879 broad.mit.edu 37 11 3114885 3114885 + Silent SNP G G A rs144394986 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:3114885G>A ENST00000263650.7 - 17 1977 c.1818C>T c.(1816-1818)gaC>gaT p.D606D OSBPL5_ENST00000348039.5_Silent_p.D538D|OSBPL5_ENST00000478260.1_Silent_p.D60D|OSBPL5_ENST00000525498.1_Silent_p.D517D|OSBPL5_ENST00000542243.1_Silent_p.D237D|OSBPL5_ENST00000389989.3_Silent_p.D538D NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 606 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGATAAACACGTCCCTGTCCT 0.687000 21 31 0 0 0.002780 0 0 ZNF185 7739 broad.mit.edu 37 X 152083700 152083700 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:152083700G>T ENST00000535861.1 + 3 225 c.177G>T c.(175-177)cgG>cgT p.R59R ZNF185_ENST00000318504.7_Silent_p.R59R|ZNF185_ENST00000449285.2_Silent_p.R59R|ZNF185_ENST00000539731.1_Silent_p.R59R|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Silent_p.R59R NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 59 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) CCTCAGGCCGGAGTCGCGCCA 0.622000 7 11 2.7689e-08 3.48408e-08 0.001984 1 0 PRAMEF7 441871 broad.mit.edu 37 1 12979699 12979699 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:12979699C>G ENST00000361079.2 + 4 974 c.891C>G c.(889-891)gtC>gtG p.V297V PRAME family member 7 p.V297V(1) endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 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;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) TGGAGATGGTCGTTATGACCG 0.547000 45 138 0 0 0.003610 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27935961 27935961 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:27935961G>C ENST00000394859.3 + 5 668 c.514G>C c.(514-516)Gac>Cac p.D172H RP11-68I3.2_ENST00000581474.1_RNA NM_152345.4 NP_689558.4 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 172 cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 16 CCTGGGCTTTGACCACATGAC 0.617000 14 29 0 0 0.004007 0 0 FAM135B 51059 broad.mit.edu 37 8 139323093 139323093 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:139323093C>A ENST00000395297.1 - 3 318 c.148G>T c.(148-150)Ggg>Tgg p.G50W NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 50 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTGTCTGCCCAGCGATGGAG 0.557000 HNSCC(54;0.14) 8 107 0.000157383 0.000171941 0.003080 1 0 ITIH6 347365 broad.mit.edu 37 X 54783842 54783842 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:54783842T>C ENST00000218436.6 - 8 2694 c.2665A>G c.(2665-2667)Aga>Gga p.R889G NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 889 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CTGTCAGGTCTAGGAGGTAGT 0.517000 44 10 0 0 0.011902 0 0 TBC1D31 93594 broad.mit.edu 37 8 124105846 124105846 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:124105846T>C ENST00000287380.1 + 5 625 c.535T>C c.(535-537)Tta>Cta p.L179L TBC1D31_ENST00000378080.2_Silent_p.L74L|TBC1D31_ENST00000521676.1_Silent_p.L74L|TBC1D31_ENST00000309336.3_Silent_p.L179L|TBC1D31_ENST00000327098.5_Silent_p.L179L|TBC1D31_ENST00000522420.1_Silent_p.L74L NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CTTTCTACCATTAAGTAATAC 0.323000 11 80 0 0 0.001368 0 0 WIPF1 7456 broad.mit.edu 37 2 175436453 175436453 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:175436453C>A ENST00000392547.2 - 5 1179 c.1080G>T c.(1078-1080)ccG>ccT p.P360P WIPF1_ENST00000409891.1_Silent_p.P360P|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000392546.2_Silent_p.P360P|WIPF1_ENST00000409415.3_Silent_p.P360P|WIPF1_ENST00000359761.3_Silent_p.P360P|WIPF1_ENST00000272746.5_Silent_p.P360P|AC018890.6_ENST00000412835.1_RNA NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 360 Pro-rich. P -> PV (in Ref. 2; CAA60014). actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TCTCACTGGGCGGGGGAGGAA 0.607000 34 106 9.45814e-24 1.67254e-23 0.004878 1 0 MBOAT2 129642 broad.mit.edu 37 2 9008594 9008594 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:9008594C>G ENST00000305997.3 - 9 1167 c.969G>C c.(967-969)ttG>ttC p.L323F MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 323 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTGAATTCTCAAATTGGAAA 0.363000 13 52 0 0 0.001855 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519556 113519556 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:113519556T>C ENST00000284601.3 - 4 1659 c.1591A>G c.(1591-1593)Aga>Gga p.R531G NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 531 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 AAATTTTTTCTTTGTTTTTCA 0.353000 11 63 0 0 0.008291 0 0 CA8 767 broad.mit.edu 37 8 61121394 61121394 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:61121394G>A ENST00000317995.4 - 8 1087 c.823C>T c.(823-825)Cgg>Tgg p.R275W NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 275 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) TGAGTGGGCCGAAAGTTGTCT 0.453000 16 70 0 0 0.004007 0 0 KCNT2 343450 broad.mit.edu 37 1 196227502 196227502 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:196227502C>A ENST00000367433.5 - 25 3062 c.2961G>T c.(2959-2961)cgG>cgT p.R987R KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.R945R|KCNT2_ENST00000294725.8_Silent_p.R1011R|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1011 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 TGCTTTTTCTCCGCAGCAAGG 0.512000 16 31 1.15088e-07 1.42241e-07 0.004007 1 0 HSD17B6 8630 broad.mit.edu 37 12 57167812 57167812 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:57167812C>T ENST00000554643.1 + 3 525 c.176C>T c.(175-177)gCg>gTg p.A59V HSD17B6_ENST00000554150.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000322165.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555805.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A59V O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 59 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) GTGCTGGCTGCGTGTCTGACG 0.597000 29 48 0 0 0.005443 0 0 OR2W3 343171 broad.mit.edu 37 1 248059389 248059389 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:248059389C>A ENST00000537741.1 + 3 758 c.501C>A c.(499-501)ccC>ccA p.P167P OR2W3_ENST00000360358.3_Silent_p.P167P Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCGCTTACCCCGCTGTGGGC 0.642000 15 43 3.27435e-08 4.09539e-08 0.002450 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125530445 125530445 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:125530445C>T ENST00000431078.1 + 17 2964 c.2600C>T c.(2599-2601)tCt>tTt p.S867F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 867 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CAGTCTCCTTCTCTTCTGAAT 0.527000 29 36 0 0 0.007291 0 0 MUC16 94025 broad.mit.edu 37 19 9082643 9082643 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:9082643C>A ENST00000397910.4 - 1 9375 c.9172G>T c.(9172-9174)Ggg>Tgg p.G3058W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3059 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 ATGGAAGGCCCAAGAAATAGT 0.488000 39 36 9.45814e-24 1.67254e-23 0.004878 1 0 XPC 7508 broad.mit.edu 37 3 14200156 14200156 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:14200156C>A ENST00000285021.7 - 9 1441 c.1227G>T c.(1225-1227)caG>caT p.Q409H XPC_ENST00000449060.2_Missense_Mutation_p.Q372H NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 409 Arg/Lys-rich (basic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGCCTTCTCCTGCTTGTCTC 0.622000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 102 23 4.98428e-49 9.81182e-49 0.003610 1 0 SPTA1 6708 broad.mit.edu 37 1 158607982 158607982 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:158607982C>A ENST00000368148.3 - 36 5210 c.5030G>T c.(5029-5031)gGg>gTg p.G1677V SPTA1_ENST00000368147.3_Missense_Mutation_p.G1677V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1677 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) GTTGAAAGTCCCGCTGGAGAG 0.413000 23 19 6.44725e-10 8.46117e-10 0.002299 1 0 TOP2B 7155 broad.mit.edu 37 3 25660275 25660275 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:25660275G>C ENST00000435706.2 - 24 3315 c.3114C>G c.(3112-3114)ttC>ttG p.F1038L TOP2B_ENST00000264331.4_Missense_Mutation_p.F1043L|TOP2B_ENST00000542520.1_5'UTR Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1043 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GTAAATCAAAGAATTCTTTCA 0.353000 5 8 0 0 0.001984 0 0 GLT1D1 144423 broad.mit.edu 37 12 129360556 129360556 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:129360556T>A ENST00000442111.2 + 2 254 c.166T>A c.(166-168)Tgc>Agc p.C56S GLT1D1_ENST00000537468.1_Missense_Mutation_p.C45S|GLT1D1_ENST00000281703.6_Missense_Mutation_p.C56S|GLT1D1_ENST00000542193.1_5'UTR Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 56 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GGCTGAGAACTGCGAGGCTGC 0.478000 31 164 0 0 0.002836 0 0 TRPM2 7226 broad.mit.edu 37 21 45845686 45845686 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:45845686G>T ENST00000397928.1 + 25 4216 c.3771G>T c.(3769-3771)gtG>gtT p.V1257V TRPM2_ENST00000300481.9_Silent_p.V1237V|TRPM2_ENST00000397932.2_Silent_p.V1307V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.V1257V NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1257 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 GCTTCCCCGTGCCCAACGAGA 0.706000 9 2 1.12685e-05 1.29552e-05 0.004482 1 0 MYH2 4620 broad.mit.edu 37 17 10432175 10432175 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:10432175T>A ENST00000245503.5 - 27 3960 c.3576A>T c.(3574-3576)gaA>gaT p.E1192D MYH2_ENST00000397183.2_Missense_Mutation_p.E1192D|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1192 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 CCGCTGTGGCTTCATGCTGTA 0.587000 95 60 0 0 0.003610 0 0 WTIP 126374 broad.mit.edu 37 19 34983977 34983977 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:34983977G>T ENST00000590071.2 + 3 1142 c.805G>T c.(805-807)Ggt>Tgt p.G269C WTIP_ENST00000270288.6_Missense_Mutation_p.G493C NM_001080436.1 NP_001073905.1 Wilms tumor 1 interacting protein NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) CTACAACGTGGGTGAGAAAGT 0.632000 57 68 3.10202e-16 4.86682e-16 0.003610 1 0 USP32 84669 broad.mit.edu 37 17 58366009 58366009 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:58366009C>A ENST00000300896.4 - 5 640 c.446G>T c.(445-447)tGg>tTg p.W149L USP32_ENST00000393003.3_Missense_Mutation_p.W149L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 149 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TAGAAAAAGCCAATTTCTAAA 0.333000 9 27 0.00448238 0.00471592 0.004482 1 0 CPXM2 119587 broad.mit.edu 37 10 125506515 125506515 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:125506515C>A ENST00000241305.3 - 14 2190 c.2036G>T c.(2035-2037)tGg>tTg p.W679L CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 679 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) CAGGAGGCGCCAGTAATCCCC 0.552000 100 99 2.63247e-40 5.09405e-40 0.003610 1 0 HECTD4 283450 broad.mit.edu 37 12 112686297 112686297 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:112686297C>G ENST00000550722.1 - 26 3927 c.3532G>C c.(3532-3534)Gtg>Ctg p.V1178L HECTD4_ENST00000377560.5_Missense_Mutation_p.V1152L|HECTD4_ENST00000430131.2_Missense_Mutation_p.V902L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCCTCCATCACGTCTGGCTGA 0.353000 6 13 0 0 0.001168 0 0 CACNB4 785 broad.mit.edu 37 2 152698451 152698451 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:152698451A>T ENST00000360283.6 - 12 1426 c.1169T>A c.(1168-1170)cTc>cAc p.L390H CACNB4_ENST00000427385.1_Missense_Mutation_p.L405H|CACNB4_ENST00000397327.2_Missense_Mutation_p.L376H|CACNB4_ENST00000534999.1_Missense_Mutation_p.L389H|CACNB4_ENST00000539935.1_Missense_Mutation_p.L423H|CACNB4_ENST00000201943.5_Intron O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 423 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) ATATGGTGAGAGTGCCGTGGA 0.488000 25 103 0 0 0.008361 0 0 PPFIA2 8499 broad.mit.edu 37 12 82147851 82147851 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:82147851C>A ENST00000550584.2 - 2 445 c.150G>T c.(148-150)cgG>cgT p.R50R PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000333447.7_Silent_p.R50R|PPFIA2_ENST00000549325.1_Silent_p.R50R|PPFIA2_ENST00000549396.1_Silent_p.R50R|PPFIA2_ENST00000552948.1_Silent_p.R50R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 309 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 CCTGGGTCTCCCGAAGGGTGT 0.527000 18 30 8.00594e-06 9.25525e-06 0.007413 1 0 GLDC 2731 broad.mit.edu 37 9 6604785 6604785 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:6604785C>T ENST00000321612.6 - 7 1012 c.e7-1 NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGGCCAGGCTCTAGAAAGGAA 0.498000 17 20 0 0 0.006122 0 0 CDH19 28513 broad.mit.edu 37 18 64218475 64218475 + Nonsense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:64218475T>A ENST00000262150.2 - 5 923 c.631A>T c.(631-633)Aaa>Taa p.K211* CDH19_ENST00000540086.1_Nonsense_Mutation_p.K211* NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 211 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CTATCCATTTTAGAAGATATT 0.313000 23 20 0 0 0.005443 0 0 AVPR1A 552 broad.mit.edu 37 12 63543939 63543939 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:63543939C>A ENST00000299178.2 - 1 783 c.678G>T c.(676-678)gtG>gtT p.V226V NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 226 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CCACGGGCGCCACAAAGATGC 0.622000 52 74 6.18754e-15 9.34476e-15 0.003610 1 0 AMER3 205147 broad.mit.edu 37 2 131521440 131521440 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:131521440G>T ENST00000423981.1 + 2 1905 c.1795G>T c.(1795-1797)Gcc>Tcc p.A599S AMER3_ENST00000321420.4_Missense_Mutation_p.A599S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GTCCAGGGATGCCTCTCGAGA 0.597000 14 50 3.27435e-08 4.09539e-08 0.002450 1 0 SMARCD1 6602 broad.mit.edu 37 12 50481193 50481193 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:50481193T>C ENST00000394963.4 + 5 977 c.579T>C c.(577-579)gcT>gcC p.A193A SMARCD1_ENST00000381513.4_Silent_p.A193A NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 193 Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 TCAATCCGGCTAAGTCAGATG 0.517000 110 133 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25339267 25339267 + RNA SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:25339267C>T ENST00000546682.1 + 0 1110 SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CTTCGTTGAACTGAGGTCCAG 0.443000 19 66 0 0 0.006122 0 0 FSHR 2492 broad.mit.edu 37 2 49217719 49217719 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:49217719G>T ENST00000406846.2 - 5 551 c.432C>A c.(430-432)ctC>ctA p.L144L FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Silent_p.L144L|FSHR_ENST00000304421.4_Silent_p.L144L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 144 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAACTTTTTGGAGAGAATGAA 0.383000 Gonadal Dysgenesis, 46 XX 27 26 2.24059e-21 3.81663e-21 0.006320 1 0 GRM7 2917 broad.mit.edu 37 3 7494431 7494431 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:7494431C>T ENST00000486284.1 + 6 1586 c.1312C>T c.(1312-1314)Cca>Tca p.P438S GRM7_ENST00000402647.2_Missense_Mutation_p.P438S|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000403881.1_Missense_Mutation_p.P438S|GRM7_ENST00000357716.4_Missense_Mutation_p.P438S|GRM7_ENST00000389336.4_Missense_Mutation_p.P438S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 438 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGGTGTCTGCCCAGAGATGGA 0.473000 16 7 0 0 0.007413 0 0 ZFHX4 79776 broad.mit.edu 37 8 77761810 77761810 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:77761810C>T ENST00000521891.2 + 8 4156 c.3708C>T c.(3706-3708)gtC>gtT p.V1236V ZFHX4_ENST00000518282.1_Silent_p.V1210V|ZFHX4_ENST00000050961.6_Silent_p.V1191V|ZFHX4_ENST00000455469.2_Silent_p.V1191V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1191 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) AGATGCACGTCCTATCACAGC 0.443000 HNSCC(33;0.089) 20 168 0 0 0.010504 0 0 INPP5B 3633 broad.mit.edu 37 1 38397621 38397621 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:38397621G>T ENST00000373023.2 - 7 589 c.496C>A c.(496-498)Cta>Ata p.L166I INPP5B_ENST00000373021.1_Missense_Mutation_p.L166I|INPP5B_ENST00000373024.3_Missense_Mutation_p.L166I|INPP5B_ENST00000373026.1_Missense_Mutation_p.L166I NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 166 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CAGGTAACTAGGGCCGAGTTA 0.642000 14 31 9.31168e-06 1.07251e-05 0.001855 1 0 CCDC129 223075 broad.mit.edu 37 7 31691583 31691583 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:31691583T>A ENST00000319386.3 + 13 3291 c.2298T>A c.(2296-2298)cgT>cgA p.R766R CCDC129_ENST00000451887.2_Silent_p.R940R|CCDC129_ENST00000407970.3_Silent_p.R914R|CCDC129_ENST00000409210.1_Silent_p.R822R Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 914 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AAACGTTACGTGAGGCCCTGA 0.483000 7 9 0 0 0.003080 0 0 OR6K6 128371 broad.mit.edu 37 1 158725560 158725560 + Silent SNP C C T rs149993086 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:158725560C>T ENST00000368144.2 + 1 1051 c.955C>T c.(955-957)Ctg>Ttg p.L319L NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CATCTATAGCCTGAAAAACAA 0.438000 24 64 0 0 0.003330 0 0 STAB2 55576 broad.mit.edu 37 12 104142758 104142758 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:104142758C>A ENST00000388887.2 + 59 6466 c.6262C>A c.(6262-6264)Cag>Aag p.Q2088K RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2088 EGF-like 16. 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 TTTCTGCAAACAGGACAACGG 0.577000 27 55 4.87955e-14 7.17885e-14 0.005443 1 0 SCN2A 6326 broad.mit.edu 37 2 166210893 166210893 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:166210893T>A ENST00000375437.2 + 17 3401 c.3111T>A c.(3109-3111)gaT>gaA p.D1037E SCN2A_ENST00000375427.2_Missense_Mutation_p.D1037E|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1037E|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1037E NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1037 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) AAGCTTTAGATGAAATTAAAC 0.343000 17 55 0 0 0.004990 0 0 DMD 1756 broad.mit.edu 37 X 31838176 31838176 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:31838176C>A ENST00000357033.4 - 50 7431 c.7225G>T c.(7225-7227)Gag>Tag p.E2409* DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2405*|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR 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 2409 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) GCCTTCCACTCAGAGCTCAGA 0.413000 56 13 1.47633e-17 2.37273e-17 0.003610 1 0 MYH2 4620 broad.mit.edu 37 17 10446192 10446192 + Splice_Site SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:10446192C>G ENST00000245503.5 - 10 1288 c.904_splice c.e10+1 p.E302_splice MYH2_ENST00000397183.2_Splice_Site_p.E302_splice|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Splice_Site_p.E302_splice NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 302 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 CATTTCTTACCAATAAGTTCT 0.338000 8 2 0 0 0.003080 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423241 107423241 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:107423241G>T ENST00000409382.3 - 6 2093 c.1483C>A c.(1483-1485)Ctg>Atg p.L495M ST6GAL2_ENST00000361686.4_Missense_Mutation_p.L495M NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 495 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CCCATGTTCAGGCGCTGCACC 0.617000 37 39 1.04594e-18 1.71179e-18 0.006230 1 0 FAM135B 51059 broad.mit.edu 37 8 139155347 139155347 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:139155347G>A ENST00000395297.1 - 16 3716 c.3546C>T c.(3544-3546)gaC>gaT p.D1182D NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1182 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTGCAAATGTGTCCATCTGGA 0.468000 HNSCC(54;0.14) 7 54 0 0 0.001984 0 0 TG 7038 broad.mit.edu 37 8 133961041 133961041 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:133961041C>T ENST00000220616.4 + 27 5294 c.5254C>T c.(5254-5256)Ctg>Ttg p.L1752L TG_ENST00000377869.1_Silent_p.L1695L|TG_ENST00000542445.1_Silent_p.L122L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1752 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) CTGTGGGTTGCTGAGCTCACC 0.512000 36 257 0 0 0.005524 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359506 70359506 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:70359506G>T ENST00000305107.6 - 2 821 c.775C>A c.(775-777)Cga>Aga p.R259R UGT2B4_ENST00000512583.1_Silent_p.R259R|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Silent_p.R123R NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 259 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 CAGTAGTTTCGAATAAGCCAT 0.413000 29 17 4.22769e-11 5.71606e-11 0.006320 1 0 GFM1 85476 broad.mit.edu 37 3 158366915 158366915 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:158366915G>T ENST00000486715.1 + 5 1015 c.658G>T c.(658-660)Gaa>Taa p.E220* GFM1_ENST00000478576.1_Nonsense_Mutation_p.E220*|GFM1_ENST00000264263.5_Nonsense_Mutation_p.E220* NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 220 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TCTTATTGAGGAACGAGCCAT 0.294000 17 48 6.94344e-10 9.05541e-10 0.006122 1 0 CGA 1081 broad.mit.edu 37 6 87796136 87796136 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:87796136C>A ENST00000369582.2 - 3 205 c.105G>T c.(103-105)acG>acT p.T35T NM_000735.3 NP_000726.1 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 35 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1) 15 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) TTTCCTGTAGCGTGCATTCTG 0.473000 15 33 2.23348e-06 2.64553e-06 0.004007 1 0 TNFRSF4 7293 broad.mit.edu 37 1 1149499 1149499 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:1149499C>A ENST00000379236.3 - 1 13 c.9G>T c.(7-9)gtG>gtT p.V3V NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 3 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCGAGCCCCCACGCACATCC 0.692000 9 5 4.68919e-08 5.85331e-08 0.008291 1 0 CUL4B 8450 broad.mit.edu 37 X 119666391 119666391 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:119666391C>T ENST00000371322.5 - 18 2386 c.2325G>A c.(2323-2325)ctG>ctA p.L775L CUL4B_ENST00000336592.6_Silent_p.L780L|CUL4B_ENST00000404115.3_Silent_p.L793L NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 793 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GATTTTTCGCCAGAACTCTAG 0.378000 27 13 0 0 0.003271 0 0 COL4A1 1282 broad.mit.edu 37 13 110830546 110830546 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:110830546G>A ENST00000375820.4 - 32 2612 c.2491C>T c.(2491-2493)Ccc>Tcc p.P831S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 831 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) GGGAATCCGGGGAAACCCTTC 0.522000 23 37 0 0 0.002780 0 0 CADM3 57863 broad.mit.edu 37 1 159166837 159166837 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:159166837C>A ENST00000368125.4 + 7 1096 c.939C>A c.(937-939)acC>acA p.T313T CADM3_ENST00000497636.1_3'UTR|CADM3_ENST00000368124.4_Silent_p.T347T|CTA-134P22.2_ENST00000415675.2_RNA NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 313 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) CCTACTACACCCTCAATGTTA 0.488000 22 21 1.66031e-10 2.19968e-10 0.003954 1 0 DNER 92737 broad.mit.edu 37 2 230377550 230377550 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:230377550C>A ENST00000341772.4 - 6 1230 c.1096G>T c.(1096-1098)Gat>Tat p.D366Y NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 366 EGF-like 4. 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) TCATTTGCATCAATACAGCTC 0.443000 17 80 6.94344e-10 9.05541e-10 0.006122 1 0 CCDC136 64753 broad.mit.edu 37 7 128446887 128446887 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:128446887C>A ENST00000297788.4 + 9 1761 c.1394C>A c.(1393-1395)gCc>gAc p.A465D CCDC136_ENST00000487361.1_Missense_Mutation_p.A412D|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 465 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GATACGGTGGCCTCCTTCAAA 0.557000 18 14 6.94344e-10 9.05541e-10 0.006122 1 0 RD3 343035 broad.mit.edu 37 1 211652627 211652627 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:211652627C>A ENST00000367002.4 - 3 1502 c.339G>T c.(337-339)gaG>gaT p.E113D RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 113 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GCTGGGACACCTCCTGCACCT 0.697000 4 7 2.56e-06 3.02655e-06 0.009096 1 0 SPAG6 9576 broad.mit.edu 37 10 22699966 22699966 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:22699966C>A ENST00000376603.2 + 10 1691 c.1549C>A c.(1549-1551)Ccg>Acg p.P517T SPAG6_ENST00000376601.1_Missense_Mutation_p.P202T|SPAG6_ENST00000376624.3_Missense_Mutation_p.P441T|SPAG6_ENST00000538630.1_Missense_Mutation_p.P416T|SPAG6_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000313311.6_Intron O75602 SPAG6_HUMAN sperm associated antigen 6 441 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 CAAGGTGCTGCCGCATGATAG 0.363000 5 20 2.0095e-06 2.38926e-06 0.001984 1 0 MYO15A 51168 broad.mit.edu 37 17 18024001 18024001 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:18024001G>A ENST00000205890.5 + 2 2225 c.1887G>A c.(1885-1887)agG>agA p.R629R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 629 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCGTGCTGAGGAGGGCCCAGC 0.741000 10 1 0 0 0.001368 0 0 HIPK2 28996 broad.mit.edu 37 7 139268706 139268706 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:139268706C>A ENST00000406875.3 - 13 2916 c.2822G>T c.(2821-2823)cGt>cTt p.R941L HIPK2_ENST00000342645.6_Missense_Mutation_p.R841L|HIPK2_ENST00000428878.2_Missense_Mutation_p.R914L NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 941 Interaction with AXIN1 (By similarity).|Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding p.R941H(1) breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GTGCCCAGCACGCTGCTGCAC 0.577000 19 22 1.37522e-17 2.21308e-17 0.007413 1 0 PRKDC 5591 broad.mit.edu 37 8 48744433 48744433 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:48744433T>C ENST00000314191.2 - 61 8260 c.8204A>G c.(8203-8205)cAg>cGg p.Q2735R PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q2735R NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2736 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) GAGCTTCTCCTGGTCCCTCAT 0.537000 Non-homologous end-joining 46 370 0 0 0.003610 0 0 COL2A1 1280 broad.mit.edu 37 12 48367956 48367956 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:48367956C>A ENST00000380518.3 - 53 4397 c.4233G>T c.(4231-4233)ctG>ctT p.L1411L COL2A1_ENST00000337299.6_Silent_p.L1342L|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1411 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCTGGATGAGCAGGGCCTTCT 0.587000 11 74 3.07112e-06 3.60698e-06 0.010729 1 0 DPH6 89978 broad.mit.edu 37 15 35742886 35742886 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:35742886C>A ENST00000256538.4 - 5 531 c.505_splice c.e5+1 p.G169_splice NM_080650.3 NP_542381.1 diphthamine biosynthesis 6 GGCTGCATACCCAAAGCTGCT 0.373000 14 37 6.81908e-15 1.02861e-14 0.002450 1 0 DUPD1 338599 broad.mit.edu 37 10 76803615 76803615 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:76803615G>T ENST00000338487.5 - 2 360 c.361C>A c.(361-363)Ctc>Atc p.L121I NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 121 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) AAGACACTGAGGTCGAAGGTG 0.682000 47 45 6.08268e-21 1.03052e-20 0.003610 1 0 OTUD6A 139562 broad.mit.edu 37 X 69282977 69282977 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:69282977C>T ENST00000338352.2 + 1 637 c.603C>T c.(601-603)gaC>gaT p.D201D NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 201 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 TCGGCTACGACGACTTCATGA 0.622000 14 22 0 0 0.003163 0 0 CPA5 93979 broad.mit.edu 37 7 129987644 129987644 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:129987644C>T ENST00000485477.1 + 3 1283 c.154C>T c.(154-156)Cag>Tag p.Q52* CPA5_ENST00000355388.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000393213.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.Q52*|CPA5_ENST00000461828.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.Q52* Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 52 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) AGATGAGAAGCAGCTTTCACT 0.582000 15 15 0 0 0.003163 0 0 ENGASE 64772 broad.mit.edu 37 17 77077076 77077076 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:77077076G>T ENST00000579016.1 + 6 793 c.793G>T c.(793-795)Ggg>Tgg p.G265W ENGASE_ENST00000539857.2_Missense_Mutation_p.G79W NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 265 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GCAGGTCCCAGGGGGCCTGGT 0.592000 15 33 2.31682e-05 2.62266e-05 0.003163 1 0 OR10S1 219873 broad.mit.edu 37 11 123847878 123847878 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:123847878G>T ENST00000531945.1 - 1 610 c.521C>A c.(520-522)aCc>aAc p.T174N NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) GGTGAGGGAGGTGTGGATTGC 0.572000 25 26 1.64293e-13 2.37523e-13 0.003330 1 0 HERC2 8924 broad.mit.edu 37 15 28515907 28515907 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:28515907C>A ENST00000261609.7 - 10 1299 c.1191G>T c.(1189-1191)atG>atT p.M397I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 397 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) CTAAATGGGCCATGACAACAA 0.537000 17 40 4.14922e-12 5.76562e-12 0.004007 1 0 SPTBN2 6712 broad.mit.edu 37 11 66457400 66457400 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:66457400G>A ENST00000533211.1 - 29 6156 c.5825C>T c.(5824-5826)gCg>gTg p.A1942V SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1942V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1942V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1942 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GACTAGATCCGCGGAGGACAC 0.632000 27 53 0 0 0.006320 0 0 ZNF136 7695 broad.mit.edu 37 19 12297713 12297713 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:12297713G>A ENST00000343979.4 + 4 660 c.520G>A c.(520-522)Gga>Aga p.G174R ZNF136_ENST00000398616.2_Missense_Mutation_p.G108R NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 174 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TAAGGAATGTGGAAAAACCTT 0.378000 3 9 0 0 0.004672 0 0 INPP4B 8821 broad.mit.edu 37 4 143114323 143114323 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:143114323C>T ENST00000513000.1 - 16 1531 c.1098G>A c.(1096-1098)gtG>gtA p.V366V INPP4B_ENST00000308502.4_Silent_p.V366V|INPP4B_ENST00000508116.1_Silent_p.V366V|INPP4B_ENST00000262992.4_Silent_p.V366V|INPP4B_ENST00000509777.1_Silent_p.V366V NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 366 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) CTGGGGCTCCCACAGTGATGA 0.428000 66 17 0 0 0.003610 0 0 TRAK2 66008 broad.mit.edu 37 2 202251067 202251067 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:202251067C>A ENST00000332624.3 - 14 2265 c.1837G>T c.(1837-1839)Gat>Tat p.D613Y NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 613 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 TCCTCTTCATCCTCTTCTAAA 0.453000 20 58 3.51602e-12 4.89661e-12 0.008871 1 0 KALRN 8997 broad.mit.edu 37 3 124053317 124053317 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:124053317G>T ENST00000360013.3 + 9 1743 c.1616G>T c.(1615-1617)tGc>tTc p.C539F KALRN_ENST00000460856.1_Missense_Mutation_p.C539F|KALRN_ENST00000240874.3_Missense_Mutation_p.C539F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 539 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTGCAGCTCTGCGTCTTCCAG 0.602000 24 11 3.5997e-14 5.32092e-14 0.002299 1 0 GABRA3 2556 broad.mit.edu 37 X 151393252 151393252 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:151393252G>A ENST00000370314.4 - 6 855 c.617C>T c.(616-618)cCa>cTa p.P206L GABRA3_ENST00000535043.1_Missense_Mutation_p.P206L|GABRA3_ENST00000370311.1_Missense_Mutation_p.P206L NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 206 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAACTTCAGTGGGCAGGCATG 0.368000 22 63 0 0 0.002299 0 0 COL24A1 255631 broad.mit.edu 37 1 86308023 86308023 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:86308023C>T ENST00000370571.2 - 40 3882 c.3516_splice c.e40+1 p.R1172_splice COL24A1_ENST00000436319.1_Splice_Site_p.R1172_splice NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1172 Collagen-like 12. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) AAATACTTACCCTGTACCCTG 0.303000 4 9 0 0 0.009096 0 0 PANX1 24145 broad.mit.edu 37 11 93913962 93913962 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:93913962A>G ENST00000227638.3 + 5 1593 c.1208A>G c.(1207-1209)aAc>aGc p.N403S PANX1_ENST00000436171.2_Intron NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 403 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACAGGTATGAACATAGACAGT 0.338000 9 20 0 0 0.006214 0 0 BLK 640 broad.mit.edu 37 8 11415488 11415488 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:11415488C>A ENST00000259089.4 + 10 1562 c.970C>A c.(970-972)Ctg>Atg p.L324M RP11-148O21.4_ENST00000528629.1_RNA|BLK_ENST00000529894.1_Missense_Mutation_p.L253M NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 324 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) GCTGGATTTCCTGAAGACAGA 0.557000 22 10 6.21321e-17 9.8219e-17 0.002780 1 0 GABRA2 2555 broad.mit.edu 37 4 46305630 46305630 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:46305630C>A ENST00000510861.1 - 8 877 c.e8-1 GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000515082.1_Splice_Site P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTATATTCACCTGGAAGAAAA 0.333000 9 23 0.00448238 0.00471592 0.004482 1 0 SLC5A4 6527 broad.mit.edu 37 22 32617003 32617003 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:32617003G>T ENST00000266086.4 - 14 1683 c.1672C>A c.(1672-1674)Cgc>Agc p.R558S RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 558 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAGCACAGGCGGTACAGCTGA 0.403000 41 7 1.58521e-26 2.85977e-26 0.005524 1 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044287 90044287 + RNA SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:90044287A>T ENST00000462693.1 + 0 238 CCAGCCTCCAAGACTCCTAAT 0.522000 37 121 0 0 0.007835 0 0 EIF3F 8665 broad.mit.edu 37 11 8009161 8009161 + Missense_Mutation SNP G G A rs143020927 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:8009161G>A ENST00000533626.1 + 3 888 c.262G>A c.(262-264)Ggc>Agc p.G88S EIF3F_ENST00000309828.4_Missense_Mutation_p.G88S|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Missense_Mutation_p.G103S O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 88 MPN. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCCTTCCCCGGCGGCCGCGT 0.672000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 12 0 0 0.008291 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819209 50819209 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:50819209G>T ENST00000374115.3 + 1 863 c.423G>T c.(421-423)ttG>ttT p.L141F CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 141 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TGAACCCCTTGAGCGGGCCCT 0.622000 51 14 1.21353e-23 2.13391e-23 0.003610 1 0 KCNA4 3739 broad.mit.edu 37 11 30032812 30032812 + Nonsense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:30032812T>A ENST00000328224.6 - 2 2647 c.1414A>T c.(1414-1416)Aga>Tga p.R472* NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 472 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ATGCTGGCTCTGAGGGTGTGG 0.527000 14 61 0 0 0.002450 0 0 DSC1 1823 broad.mit.edu 37 18 28736079 28736079 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:28736079T>C ENST00000257197.3 - 4 659 c.398A>G c.(397-399)aAg>aGg p.K133R DSC1_ENST00000257198.5_Missense_Mutation_p.K133R|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 133 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCATCGTCTCTTGCTGCGCTT 0.408000 27 62 0 0 0.005443 0 0 AACS 65985 broad.mit.edu 37 12 125612781 125612781 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:125612781C>T ENST00000316519.6 + 13 1590 c.1384C>T c.(1384-1386)Cgg>Tgg p.R462W AACS_ENST00000545511.1_Silent_p.P41P|AACS_ENST00000261686.6_Missense_Mutation_p.R462W|AACS_ENST00000316543.10_Missense_Mutation_p.R60W NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 462 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding p.R462R(1) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GATTCAGGCCCGGAACCTGGG 0.542000 11 34 0 0 0.010729 0 0 WDR70 55100 broad.mit.edu 37 5 37396476 37396476 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:37396476G>T ENST00000265107.4 + 5 452 c.e5-1 WDR70_ENST00000504564.1_Splice_Site NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTATTTTCAGGGATACGAGC 0.398000 49 54 8.72198e-27 1.57802e-26 0.003610 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110467032 110467032 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:110467032C>T ENST00000378402.5 + 45 6929 c.6825C>T c.(6823-6825)gtC>gtT p.V2275V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2275 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGCTCCCTGTCTATGGTGCCA 0.522000 HNSCC(38;0.096) 75 42 0 0 0.003610 0 0 GRM7 2917 broad.mit.edu 37 3 7188305 7188305 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:7188305G>C ENST00000486284.1 + 2 960 c.686G>C c.(685-687)aGt>aCt p.S229T GRM7_ENST00000402647.2_Missense_Mutation_p.S229T|GRM7_ENST00000403881.1_Missense_Mutation_p.S229T|GRM7_ENST00000357716.4_Missense_Mutation_p.S229T|GRM7_ENST00000389336.4_Missense_Mutation_p.S229T NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 229 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCGGAAGGAAGTTATGGAGAG 0.522000 24 16 0 0 0.004656 0 0 GLT1D1 144423 broad.mit.edu 37 12 129431967 129431967 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:129431967C>T ENST00000442111.2 + 10 832 c.744C>T c.(742-744)agC>agT p.S248S GLT1D1_ENST00000537468.1_Silent_p.S253S|GLT1D1_ENST00000281703.6_Silent_p.S168S|GLT1D1_ENST00000542193.1_Silent_p.S165S Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 248 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TGGTGAATAGCTCTGTCTCTG 0.473000 24 47 0 0 0.003954 0 0 BCL9 607 broad.mit.edu 37 1 147090787 147090787 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:147090787C>T ENST00000234739.3 + 8 1566 c.826C>T c.(826-828)Cgg>Tgg p.R276W NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 276 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TCCCCTGGACCGGGAGAGTCC 0.592000 T """IGH@, IGL@""" B-ALL 17 64 0 0 0.004990 0 0 NOL4 8715 broad.mit.edu 37 18 31463354 31463354 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:31463354G>T ENST00000261592.5 - 10 1874 c.1577C>A c.(1576-1578)cCa>cAa p.P526Q NOL4_ENST00000535384.1_Missense_Mutation_p.P241Q|NOL4_ENST00000538587.1_Missense_Mutation_p.P452Q|NOL4_ENST00000589544.1_Missense_Mutation_p.P424Q|NOL4_ENST00000535475.1_Missense_Mutation_p.P307Q|NOL4_ENST00000269185.4_Missense_Mutation_p.P310Q NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 526 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GGTCGCCTCTGGTTTACACTG 0.468000 39 43 9.8876e-21 1.66612e-20 0.004878 1 0 AEBP1 165 broad.mit.edu 37 7 44153353 44153353 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:44153353C>G ENST00000223357.3 + 21 3275 c.2970C>G c.(2968-2970)atC>atG p.I990M AEBP1_ENST00000450684.2_Missense_Mutation_p.I565M NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 990 Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GGAAGCGCATCCGGGAGATCA 0.617000 21 98 0 0 0.010504 0 0 UBE2E3 10477 broad.mit.edu 37 2 181922478 181922478 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:181922478G>T ENST00000410062.4 + 4 697 c.304G>T c.(304-306)Ggt>Tgt p.G102C UBE2E3_ENST00000392415.2_Missense_Mutation_p.G102C|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.G102C|UBE2E3_ENST00000602959.1_Missense_Mutation_p.G102C NM_006357.2 NP_006348.1 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 102 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1) 11 TGGTCCACCGGGTTCTGTATA 0.343000 19 109 1.28384e-07 1.58361e-07 0.012319 1 0 PADI1 29943 broad.mit.edu 37 1 17531764 17531764 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:17531764G>T ENST00000375471.4 + 1 144 c.52G>T c.(52-54)Gtg>Ttg p.V18L NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 18 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TACCCATGCCGTGTGTGTGGT 0.592000 22 6 1.50039e-11 2.04852e-11 0.012319 1 0 TTN 7273 broad.mit.edu 37 2 179528591 179528591 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179528591C>T ENST00000589042.1 - 170 36627 c.36403G>A c.(36403-36405)Gtg>Atg p.V12135M TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10284 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) GCCAAGGGCACTTTCTCTTCG 0.408000 58 193 0 0 0.003610 0 0 RC3H2 54542 broad.mit.edu 37 9 125621336 125621336 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:125621336C>A ENST00000373670.1 - 11 2495 c.1895G>T c.(1894-1896)tGt>tTt p.C632F RC3H2_ENST00000423239.2_Missense_Mutation_p.C632F|RC3H2_ENST00000357244.2_Missense_Mutation_p.C632F Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 632 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCGAGGAACACAGGGAGCCAC 0.453000 9 19 0.000274275 0.000296796 0.004482 1 0 EPHA5 2044 broad.mit.edu 37 4 66280009 66280009 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:66280009G>T ENST00000273854.3 - 7 2280 c.1680C>A c.(1678-1680)acC>acA p.T560T EPHA5_ENST00000354839.4_Silent_p.T560T|EPHA5_ENST00000432638.2_Silent_p.T396T|EPHA5_ENST00000511294.1_Silent_p.T560T NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 560 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TACACACTGGGGTGGTTTCAA 0.453000 TSP Lung(17;0.13) 28 5 3.65163e-15 5.54835e-15 0.006320 1 0 DSG2 1829 broad.mit.edu 37 18 29116302 29116302 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:29116302G>T ENST00000261590.8 + 11 1770 c.1561G>T c.(1561-1563)Gat>Tat p.D521Y NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 521 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGAGGACCTGGATGGACACCC 0.463000 34 36 5.04308e-16 7.87274e-16 0.006230 1 0 APOA4 337 broad.mit.edu 37 11 116693874 116693874 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:116693874G>T ENST00000357780.3 - 1 148 c.34C>A c.(34-36)Ctg>Atg p.L12M NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ACAGCCACCAGGGCCAGGGTC 0.587000 66 88 3.07281e-33 5.81142e-33 0.003610 1 0 CD300A 11314 broad.mit.edu 37 17 72462876 72462876 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:72462876G>A ENST00000360141.3 + 1 322 c.34G>A c.(34-36)Gtc>Atc p.V12I CD300A_ENST00000361933.3_Missense_Mutation_p.V12I|CD300A_ENST00000392625.3_Missense_Mutation_p.V12I|CD300A_ENST00000310828.5_Missense_Mutation_p.V12I NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 12 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GCTTCTCTGGGTCCCAGGTGA 0.662000 3 0 0 0 0.009096 0 0 MYH4 4622 broad.mit.edu 37 17 10358039 10358039 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:10358039G>T ENST00000255381.2 - 22 2634 c.2524C>A c.(2524-2526)Ccc>Acc p.P842T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 842 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.P842T(1) 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 TTGAGGAGGGGCTTGATCTTG 0.453000 51 49 1.07234e-20 1.80454e-20 0.003610 1 0 GDPD3 79153 broad.mit.edu 37 16 30124062 30124062 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:30124062C>A ENST00000406256.3 - 3 612 c.235G>T c.(235-237)Gac>Tac p.D79Y NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 79 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 ACCACTCTGTCCCGTGTCAGC 0.657000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 50 4.78724e-31 8.94571e-31 0.003610 1 0 LAMB4 22798 broad.mit.edu 37 7 107704254 107704254 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:107704254G>T ENST00000388781.3 - 22 3096 c.3013C>A c.(3013-3015)Ctc>Atc p.L1005I LAMB4_ENST00000205386.4_Missense_Mutation_p.L1005I|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1005I NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1005 Laminin EGF-like 10. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGTTTGCAGAGCTGGCAGTTT 0.522000 118 53 2.12763e-61 4.23496e-61 0.003610 1 0 FSHR 2492 broad.mit.edu 37 2 49195959 49195959 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:49195959C>A ENST00000406846.2 - 9 851 c.732G>T c.(730-732)ctG>ctT p.L244L FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000304421.4_Silent_p.L218L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 244 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACCTGGCCCTCAGCTTCTTAA 0.433000 Gonadal Dysgenesis, 46 XX 35 21 1.90571e-15 2.91324e-15 0.004289 1 0 TRPC5 7224 broad.mit.edu 37 X 111155752 111155752 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:111155752G>T ENST00000262839.2 - 3 1585 c.667C>A c.(667-669)Ctg>Atg p.L223M NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 223 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCCCAGCCCAGACGGAAGGCA 0.557000 44 106 9.84934e-19 1.61405e-18 0.010771 1 0 LRP1B 53353 broad.mit.edu 37 2 141093184 141093184 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:141093184C>T ENST00000389484.3 - 78 13087 c.12116_splice c.e78+1 p.G4039_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4039 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) ATTAACCTACCCTCTTTTAGG 0.368000 TSP Lung(27;0.18) 22 88 0 0 0.012319 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733126 52733126 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:52733126T>A ENST00000360540.5 - 7 1265 c.859A>T c.(859-861)Act>Tct p.T287S PCMTD1_ENST00000544451.1_Missense_Mutation_p.T211S|PCMTD1_ENST00000522514.1_Missense_Mutation_p.T287S|PCMTD1_ENST00000519559.1_5'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 287 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) AATACGTAAGTGTTAATTCTC 0.393000 6 126 0 0 0.008291 0 0 ENPP2 5168 broad.mit.edu 37 8 120629482 120629482 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:120629482C>A ENST00000427067.2 - 7 747 c.565_splice c.e7-1 p.R189_splice ENPP2_ENST00000522826.1_Splice_Site_p.R193_splice|ENPP2_ENST00000259486.6_Splice_Site_p.R193_splice|ENPP2_ENST00000075322.6_Splice_Site_p.R193_splice Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 193 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGCCACAAGACCCTGGAAAGA 0.383000 11 45 3.07112e-06 3.60698e-06 0.010729 1 0 SLC35F2 54733 broad.mit.edu 37 11 107663485 107663485 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:107663485C>A ENST00000525071.1 - 11 1562 c.974G>T c.(973-975)tGg>tTg p.W325L SLC35F2_ENST00000429869.1_Silent_p.V327V|SLC35F2_ENST00000265836.7_Silent_p.V179V|SLC35F2_ENST00000525815.1_Silent_p.V327V|SLC35F2_ENST00000375682.4_Silent_p.V280V Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 329 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) GGATAAACCCCACCATGATGA 0.547000 9 15 2.17888e-05 2.47546e-05 0.006214 1 0 MAGEB6 158809 broad.mit.edu 37 X 26212158 26212158 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:26212158G>C ENST00000379034.1 + 2 344 c.195G>C c.(193-195)caG>caC p.Q65H NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 65 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AGGAGTCTCAGGGAGTGTCAC 0.527000 27 9 0 0 0.004656 0 0 DHRS4 10901 broad.mit.edu 37 14 24424307 24424307 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:24424307G>A ENST00000313250.5 + 2 395 c.192G>A c.(190-192)cgG>cgA p.R64R DHRS4_ENST00000558581.1_Silent_p.R64R|DHRS4_ENST00000397073.2_Silent_p.R46R|DHRS4_ENST00000421831.1_Silent_p.R46R|DHRS4_ENST00000308178.8_Silent_p.R46R|DHRS4_ENST00000382761.3_Silent_p.R46R|DHRS4_ENST00000558263.1_Silent_p.R64R|DHRS4_ENST00000397074.3_Silent_p.R64R|DHRS4_ENST00000559632.1_Silent_p.R64R|DHRS4_ENST00000397075.3_Silent_p.R64R|DHRS4_ENST00000543741.2_Silent_p.R64R NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 64 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TCAGCAGCCGGAAGCAGCAGA 0.667000 21 62 0 0 0.012319 0 0 PDE10A 10846 broad.mit.edu 37 6 165846533 165846533 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:165846533C>A ENST00000366882.1 - 8 746 c.592G>T c.(592-594)Ggt>Tgt p.G198C PDE10A_ENST00000354448.4_Missense_Mutation_p.G198C|PDE10A_ENST00000539869.2_Missense_Mutation_p.G208C Q9Y233 PDE10_HUMAN phosphodiesterase 10A 198 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) ATCAAGTCACCAATTGCAGTG 0.443000 17 23 1.5739e-10 2.08963e-10 0.004007 1 0 NRCAM 4897 broad.mit.edu 37 7 107872908 107872908 + Missense_Mutation SNP T T C rs150121000 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:107872908T>C ENST00000379028.3 - 7 759 c.289A>G c.(289-291)Atg>Gtg p.M97V NRCAM_ENST00000425651.2_Missense_Mutation_p.M97V|NRCAM_ENST00000413765.2_Missense_Mutation_p.M97V|NRCAM_ENST00000379022.4_Missense_Mutation_p.M97V|NRCAM_ENST00000379024.4_Missense_Mutation_p.M97V|NRCAM_ENST00000351718.4_Missense_Mutation_p.M91V Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 97 Ig-like 1. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CCAGGCTTCATGGTGACCAGA 0.473000 35 89 0 0 0.003755 0 0 IGDCC4 57722 broad.mit.edu 37 15 65684694 65684694 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:65684694C>T ENST00000352385.2 - 11 2109 c.1900G>A c.(1900-1902)Gca>Aca p.A634T NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 634 Fibronectin type-III 3. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TTCAACTCTGCAGGGGCAAAA 0.557000 13 34 0 0 0.001855 0 0 MIR876 100126310 broad.mit.edu 37 9 28863632 28863632 + RNA SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:28863632T>A ENST00000401147.1 - 0 72 NR_030597.1 TGTGAAGCACTATGAATTACT 0.403000 24 24 0 0 0.003954 0 0 DDX23 9416 broad.mit.edu 37 12 49233639 49233639 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:49233639T>C ENST00000308025.3 - 5 547 c.468A>G c.(466-468)gaA>gaG p.E156E DDX23_ENST00000553182.1_5'UTR NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 156 Glu-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TAGCCTCAGCTTCTTCCTCAG 0.453000 19 27 0 0 0.012319 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020721 33020721 + RNA SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:33020721C>T ENST00000565407.2 + 0 129 RP11-19N8.2_ENST00000567619.1_RNA CCTGTCCAGCCTCTGGATTCA 0.567000 135 163 0 0 0.003610 0 0 NARS2 79731 broad.mit.edu 37 11 78204233 78204233 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:78204233G>A ENST00000281038.5 - 7 1073 c.698C>T c.(697-699)aCt>aTt p.T233I NARS2_ENST00000528850.1_Missense_Mutation_p.T6I NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 233 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AAACACTTGAGTAAAAGCTCT 0.353000 23 31 0 0 0.003954 0 0 APOA4 337 broad.mit.edu 37 11 116692386 116692386 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:116692386C>A ENST00000357780.3 - 3 502 c.388G>T c.(388-390)Gag>Tag p.E130* NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) tgctgaagctctcgcaggttg 0.667000 11 15 1.58986e-06 1.89934e-06 0.008291 1 0 COL6A2 1292 broad.mit.edu 37 21 47537831 47537831 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:47537831G>A ENST00000300527.4 + 12 1201 c.1097G>A c.(1096-1098)cGa>cAa p.R366Q COL6A2_ENST00000310645.5_Missense_Mutation_p.R366Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R366Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000409416.1_Missense_Mutation_p.R366Q NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 366 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCAGGGGAGCGAGGAGACCAA 0.682000 10 18 0 0 0.010729 0 0 SERPINE1 5054 broad.mit.edu 37 7 100773862 100773862 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:100773862C>A ENST00000223095.4 + 3 589 c.432C>A c.(430-432)gtC>gtA p.V144V SERPINE1_ENST00000445463.2_Silent_p.V129V NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 144 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GGAGCACGGTCAAGCAAGTGG 0.537000 116 120 1.01443e-56 2.00959e-56 0.003610 1 0 RIMS2 9699 broad.mit.edu 37 8 104709475 104709475 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:104709475C>A ENST00000406091.3 + 2 338 c.338C>A c.(337-339)aCa>aAa p.T113K NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 144 RabBD. 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) TATTGCCAAACAAAGTTCTGT 0.418000 HNSCC(12;0.0054) 42 140 4.18559e-23 7.28839e-23 0.003610 1 0 GPRIN2 9721 broad.mit.edu 37 10 46999723 46999723 + Missense_Mutation SNP G G T rs71265691 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:46999723G>T ENST00000374314.4 + 1 1798 c.843G>T c.(841-843)agG>agT p.R281S GPRIN2_ENST00000374317.1_Missense_Mutation_p.R281S O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 281 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 TCCACTGTAGGTTGTCTGGGG 0.602000 23 40 5.35047e-06 6.23723e-06 0.003330 1 0 SH2D1B 117157 broad.mit.edu 37 1 162372571 162372571 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:162372571T>G ENST00000367929.2 - 2 265 c.156A>C c.(154-156)acA>acC p.T52T SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.T52T NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 52 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGATTCGGTATGTGTAGACAA 0.368000 7 33 0 0 0.001984 0 0 SECTM1 6398 broad.mit.edu 37 17 80282697 80282697 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:80282697C>A ENST00000269389.3 - 3 514 c.164G>T c.(163-165)tGc>tTc p.C55F SECTM1_ENST00000580437.1_Missense_Mutation_p.C55F NM_003004.2 NP_002995.1 Q8WVN6 SCTM1_HUMAN secreted and transmembrane 1 55 immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular space|Golgi apparatus|integral to membrane|plasma membrane cytokine activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1) 4 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GGAGATGTTGCAGGACATGAC 0.602000 3 9 6.4e-05 7.11142e-05 0.004672 1 0 PPM1E 22843 broad.mit.edu 37 17 57057409 57057409 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:57057409T>C ENST00000308249.2 + 7 1414 c.1285T>C c.(1285-1287)Tac>Cac p.Y429H NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 438 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GACCGAAGACTACCTCATTCT 0.512000 10 25 0 0 0.001855 0 0 UNC80 285175 broad.mit.edu 37 2 210650818 210650818 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:210650818G>T ENST00000439458.1 + 5 709 c.629G>T c.(628-630)aGt>aTt p.S210I UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.S210I NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 210 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 CGTCTGGCCAGTGGGCTTGTT 0.502000 23 76 3.5997e-14 5.32092e-14 0.002299 1 0 BMPR1A 657 broad.mit.edu 37 10 88651967 88651967 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:88651967G>T ENST00000372037.2 + 5 851 c.314G>T c.(313-315)gGa>gTa p.G105V NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 105 BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 AAATATGAAGGATCTGATTTT 0.408000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 10 15 9.70103e-10 1.26255e-09 0.008291 1 0 C19orf12 83636 broad.mit.edu 37 19 30199321 30199321 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:30199321C>A ENST00000392278.2 - 2 159 c.33G>T c.(31-33)acG>acT p.T11T C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000323670.9_5'UTR|C19orf12_ENST00000592153.1_5'UTR|C19orf12_ENST00000392276.1_Intron NM_001031726.3 NP_001026896.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 0 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) TGATAGTCATCGTGGCGGGCC 0.517000 30 44 2.20474e-14 3.2822e-14 0.003755 1 0 ARHGAP5 394 broad.mit.edu 37 14 32560934 32560934 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:32560934A>G ENST00000345122.3 + 2 1374 c.1059A>G c.(1057-1059)ctA>ctG p.L353L ARHGAP5_ENST00000432921.1_Silent_p.L353L|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Silent_p.L353L|ARHGAP5_ENST00000539826.2_Silent_p.L353L NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 353 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TGCCAAATCTAGAAGAGATTG 0.328000 40 28 0 0 0.007835 0 0 CEP350 9857 broad.mit.edu 37 1 180062310 180062310 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:180062310A>G ENST00000367607.3 + 34 7488 c.7070A>G c.(7069-7071)aAg>aGg p.K2357R CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2357 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AAGAACACAAAGGAAAAAGAT 0.343000 12 7 0 0 0.010729 0 0 MTRR 4552 broad.mit.edu 37 5 7892928 7892928 + Missense_Mutation SNP G G A rs137853061 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:7892928G>A ENST00000264668.2 + 11 1570 c.1540G>A c.(1540-1542)Gga>Aga p.G514R MTRR_ENST00000440940.2_Missense_Mutation_p.G487R NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 514 FAD-binding FR-type. G -> R (in cblE). methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TCTGCGGAAGGGAGTATGTAC 0.478000 111 45 0 0 0.003610 0 0 HMG20A 10363 broad.mit.edu 37 15 77771520 77771520 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:77771520G>T ENST00000381714.3 + 10 1335 c.e10-1 HMG20A_ENST00000336216.4_Splice_Site NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TCTCACTTCAGGAAGTGGAGA 0.378000 8 45 4.68919e-08 5.85331e-08 0.008291 1 0 ZNF688 146542 broad.mit.edu 37 16 30582916 30582916 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:30582916C>A ENST00000223459.6 - 1 1139 c.35G>T c.(34-36)aGg>aTg p.R12M ZNF688_ENST00000395219.1_Intron|ZNF688_ENST00000563707.1_Missense_Mutation_p.R12M|ZNF688_ENST00000567855.1_Missense_Mutation_p.R12M NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 CTCCCCGGGCCTCGGCGCCAG 0.776000 3 1 6.4e-05 7.11142e-05 0.004672 1 0 LRRC66 339977 broad.mit.edu 37 4 52861529 52861529 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:52861529C>A ENST00000343457.3 - 4 1665 c.1659G>T c.(1657-1659)gtG>gtT p.V553V NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 553 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 AAGAGACGCCCACTGAATGTG 0.498000 60 15 2.14255e-21 3.65958e-21 0.003610 1 0 DSE 29940 broad.mit.edu 37 6 116752286 116752286 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:116752286C>T ENST00000331677.3 + 5 1284 c.840C>T c.(838-840)ttC>ttT p.F280F DSE_ENST00000359564.2_Silent_p.F280F|DSE_ENST00000537543.1_Silent_p.F299F|DSE_ENST00000452085.3_Silent_p.F280F Q9UL01 DSE_HUMAN dermatan sulfate epimerase 280 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AGAGGCACTTCAACATCAACC 0.468000 11 22 0 0 0.008291 0 0 NPAP1 23742 broad.mit.edu 37 15 24921201 24921201 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:24921201A>T ENST00000329468.2 + 1 661 c.187A>T c.(187-189)Agc>Tgc p.S63C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTCAGCAGCCAGCATCTTCGT 0.731000 14 46 0 0 0.002450 0 0 CD200R1L 344807 broad.mit.edu 37 3 112564525 112564525 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:112564525C>A ENST00000488794.1 - 2 504 c.e2+1 CD200R1L_ENST00000398214.1_Splice_Site|CD200R1L_ENST00000448932.1_Splice_Site Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 ATCAGACTTACCAGACACCAT 0.338000 40 43 1.76056e-25 3.1579e-25 0.011902 1 0 TTF1 7270 broad.mit.edu 37 9 135277662 135277662 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:135277662C>A ENST00000334270.2 - 2 586 c.547G>T c.(547-549)Gca>Tca p.A183S NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 183 N-terminal region (NRD) (By similarity). negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GTGTCCCTTGCCCGCTGGCTC 0.498000 24 9 5.35356e-11 7.20716e-11 0.002780 1 0 PCDHB15 56121 broad.mit.edu 37 5 140627302 140627302 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:140627302C>A ENST00000231173.3 + 1 2156 c.2156C>A c.(2155-2157)gCg>gAg p.A719E NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 719 A -> V (in a breast cancer sample; somatic mutation). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A719V(1) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGCAGGGCGGCCTCAGTG 0.647000 120 49 4.9928e-70 1.00176e-69 0.003610 1 0 RBM8A 9939 broad.mit.edu 37 1 145507688 145507688 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:145507688C>T ENST00000330165.7 + 1 91 c.22C>T c.(22-24)Cac>Tac p.H8Y RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.H8Y|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA NM_005105.3 NP_005096.1 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A 8 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck mRNA binding|nucleotide binding|protein binding kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTAGATCTTCACGAGGCTGG 0.602000 OREG0013748 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 4 0 0 0.003080 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220680 118220680 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:118220680A>T ENST00000402510.2 - 11 4512 c.4513T>A c.(4513-4515)Tcg>Acg p.S1505T NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1505 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 ATTGGGCCCGAGGGCACTGAA 0.488000 15 7 0 0 0.003163 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433718 73433718 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:73433718G>T ENST00000263666.4 - 10 2113 c.1999C>A c.(1999-2001)Cct>Act p.P667T PDZRN3_ENST00000462146.2_Missense_Mutation_p.P324T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P324T|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P389T|PDZRN3_ENST00000479530.1_Missense_Mutation_p.P384T NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 667 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGGCCGCTAGGGTAGTACAGG 0.652000 21 93 4.35082e-09 5.58689e-09 0.010504 1 0 RAD51AP1 10635 broad.mit.edu 37 12 4657954 4657954 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:4657954G>T ENST00000228843.9 + 7 609 c.559G>T c.(559-561)Ggc>Tgc p.G187C RAD51AP1_ENST00000321524.7_Missense_Mutation_p.G187C|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.G52C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.G170C|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.G170C NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 187 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TCTTCTGGAAGGCAGTGATGG 0.403000 58 8 3.84483e-29 7.07902e-29 0.003610 1 0 FLG 2312 broad.mit.edu 37 1 152280877 152280877 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:152280877C>G ENST00000368799.1 - 3 6520 c.6485G>C c.(6484-6486)gGa>gCa p.G2162A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2162 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGAGTGTCCAGACCTATC 0.567000 Ichthyosis 244 375 0 0 0.003610 0 0 CSPP1 79848 broad.mit.edu 37 8 68107672 68107672 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:68107672C>T ENST00000262210.5 + 29 3541 c.3510C>T c.(3508-3510)gaC>gaT p.D1170D CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Silent_p.D825D NM_024790.6 NP_079066.5 Q1MSJ5 CSPP1_HUMAN centrosome and spindle pole associated protein 1 1205 centrosome|microtubule|spindle NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1) 49 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) TAGGGGATGACGGATCAAACT 0.537000 50 341 0 0 0.003610 0 0 LAMB4 22798 broad.mit.edu 37 7 107704224 107704224 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:107704224G>T ENST00000388781.3 - 22 3126 c.3043C>A c.(3043-3045)Ctc>Atc p.L1015I LAMB4_ENST00000205386.4_Missense_Mutation_p.L1015I|LAMB4_ENST00000388780.3_Missense_Mutation_p.L1015I NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1015 Laminin EGF-like 10. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GTCTGATTGAGGGCTGATCCA 0.522000 34 143 1.47197e-15 2.2557e-15 0.007835 1 0 FCHSD2 9873 broad.mit.edu 37 11 72598594 72598594 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:72598594C>A ENST00000409314.1 - 13 1307 c.1139G>T c.(1138-1140)gGa>gTa p.G380V FCHSD2_ENST00000409418.4_Missense_Mutation_p.G356V|FCHSD2_ENST00000409853.1_Missense_Mutation_p.G300V|FCHSD2_ENST00000311172.7_Missense_Mutation_p.G300V|FCHSD2_ENST00000458644.2_Missense_Mutation_p.G220V O94868 FCSD2_HUMAN FCH and double SH3 domains 2 356 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TACAGCAGCTCCATGACACTC 0.358000 32 62 1.74807e-11 2.37889e-11 0.010818 1 0 RPL31P11 641311 broad.mit.edu 37 1 161654836 161654836 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:161654836C>A ENST00000426558.1 - 0 206 NR_002595.1 TTCCCATCTCCTTCATGCCAA 0.512000 11 8 1.61879e-10 2.14696e-10 0.001368 1 0 ZNF423 23090 broad.mit.edu 37 16 49671819 49671819 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:49671819G>T ENST00000561648.1 - 4 1297 c.1244C>A c.(1243-1245)tCc>tAc p.S415Y ZNF423_ENST00000563137.2_Missense_Mutation_p.S355Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.S298Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.S298Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.S415Y NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 415 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GTCCCGCTTGGAACAATAGGG 0.612000 19 33 5.03518e-11 6.78584e-11 0.007413 1 0 IGHV4-31 28396 broad.mit.edu 37 14 106805611 106805611 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:106805611C>A ENST00000438142.2 - 0 105 CTGGGAGCTGCCACCAGCAGG 0.532000 22 49 3.99451e-17 6.35467e-17 0.009535 1 0 TMEM132B 114795 broad.mit.edu 37 12 126135290 126135290 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:126135290C>T ENST00000299308.3 + 7 1698 c.1690C>T c.(1690-1692)Cag>Tag p.Q564* TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.Q76* NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 564 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGCTCCCTGCAGTACCAGCA 0.572000 21 54 0 0 0.002299 0 0 CCDC135 84229 broad.mit.edu 37 16 57752386 57752386 + Splice_Site SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:57752386T>C ENST00000360716.3 + 9 1426 c.1206_splice c.e9+1 p.L402_splice CCDC135_ENST00000336825.8_Splice_Site_p.L337_splice|CCDC135_ENST00000394337.4_Splice_Site_p.L402_splice Q8IY82 CC135_HUMAN coiled-coil domain containing 135 402 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GTGGAAAATCTGGTGAGTCTC 0.537000 63 28 0 0 0.003610 0 0 TRPM1 4308 broad.mit.edu 37 15 31353687 31353687 + Nonsense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:31353687G>A ENST00000542188.1 - 9 1484 c.1171C>T c.(1171-1173)Cag>Tag p.Q391* TRPM1_ENST00000256552.6_Nonsense_Mutation_p.Q374*|TRPM1_ENST00000397795.2_Nonsense_Mutation_p.Q352* NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 352 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ATGTCCTGCTGGCCCTCAGAA 0.468000 4 32 0 0 0.009096 0 0 OR6N2 81442 broad.mit.edu 37 1 158747146 158747146 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:158747146A>T ENST00000339258.1 - 1 279 c.280T>A c.(280-282)Ttt>Att p.F94I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CATCCTGCAAAAGAAATGGTT 0.443000 32 78 0 0 0.008361 0 0 FBXL7 23194 broad.mit.edu 37 5 15936989 15936989 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:15936989G>T ENST00000504595.1 + 4 1651 c.1170G>T c.(1168-1170)acG>acT p.T390T FBXL7_ENST00000329673.7_Silent_p.T378T|FBXL7_ENST00000510662.1_Silent_p.T343T NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 390 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 AGGGCATCACGGACCACGGTG 0.627000 24 29 3.83957e-06 4.50529e-06 0.002780 1 0 CCDC63 160762 broad.mit.edu 37 12 111319093 111319093 + Missense_Mutation SNP G G C rs143591206 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:111319093G>C ENST00000308208.5 + 7 1088 c.846G>C c.(844-846)agG>agC p.R282S CCDC63_ENST00000545036.1_Missense_Mutation_p.R242S|CCDC63_ENST00000552694.1_Missense_Mutation_p.R203S NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 282 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGGCCAAAAGGGAGGAAGGTA 0.507000 13 22 0 0 0.001855 0 0 FAM98A 25940 broad.mit.edu 37 2 33810093 33810093 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:33810093C>G ENST00000238823.8 - 8 1447 c.1307G>C c.(1306-1308)gGa>gCa p.G436A FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.G241A Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 437 Gly-rich. NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) ACCCTGGTATCCACTTCCTGT 0.567000 54 51 0 0 0.003610 0 0 FAM9B 171483 broad.mit.edu 37 X 9000422 9000422 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:9000422C>A ENST00000362066.3 - 2 432 c.244G>T c.(244-246)Ggg>Tgg p.G82W FAM9B_ENST00000327220.5_Missense_Mutation_p.G37W|FAM9B_ENST00000428477.1_Missense_Mutation_p.G37W Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 37 nucleus breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 Hepatocellular(5;0.219) TCTCTTTCCCCATGCTCATCA 0.413000 46 28 1.06522e-23 1.87575e-23 0.013114 1 0 CKAP4 10970 broad.mit.edu 37 12 106633389 106633389 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:106633389C>A ENST00000378026.4 - 2 1358 c.1222G>T c.(1222-1224)Gga>Tga p.G408* NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 408 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 GAGTCCAGTCCCTGACTCTTT 0.627000 46 49 8.72198e-27 1.57802e-26 0.003610 1 0 OR4L1 122742 broad.mit.edu 37 14 20529046 20529046 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:20529046A>T ENST00000315683.1 + 1 843 c.843A>T c.(841-843)ttA>ttT p.L281F NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TCACACCCTTACTGAATCCGA 0.353000 9 20 0 0 0.001368 0 0 ING1 3621 broad.mit.edu 37 13 111367799 111367799 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:111367799C>T ENST00000375774.3 + 1 471 c.9C>T c.(7-9)ttC>ttT p.F3F ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|ING1_ENST00000464141.1_3'UTR NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 3 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) TGATGTCCTTCGTGGAATGTC 0.527000 28 31 0 0 0.006320 0 0 NF1 4763 broad.mit.edu 37 17 29548883 29548883 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:29548883C>T ENST00000358273.4 + 15 2040 c.1657C>T c.(1657-1659)Cat>Tat p.H553Y NF1_ENST00000356175.3_Missense_Mutation_p.H553Y|NF1_ENST00000431387.4_Missense_Mutation_p.H553Y NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 553 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) GCTGGTTCTTCATCAGTTAGA 0.303000 """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) 18 5 0 0 0.010504 0 0 LMX1A 4009 broad.mit.edu 37 1 165175220 165175220 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:165175220T>A ENST00000342310.3 - 8 1251 c.869A>T c.(868-870)tAc>tTc p.Y290F LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.Y290F|LMX1A_ENST00000367893.4_Missense_Mutation_p.Y290F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 290 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGAGCCGTGTAGGGGTTCAT 0.582000 36 37 0 0 0.006999 0 0 LRP2 4036 broad.mit.edu 37 2 169997053 169997053 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:169997053T>C ENST00000263816.3 - 72 13396 c.13111A>G c.(13111-13113)Atc>Gtc p.I4371V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4371 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGCAGTTCGATGGCTGCAGGA 0.552000 10 34 0 0 0.006214 0 0 FAM171B 165215 broad.mit.edu 37 2 187605149 187605149 + Missense_Mutation SNP G G C rs139449443 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:187605149G>C ENST00000304698.5 + 2 636 c.433G>C c.(433-435)Gtg>Ctg p.V145L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 145 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGATGGCTACGTGTTGACCCC 0.343000 5 12 0 0 0.000602 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166961 140166961 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:140166961C>T ENST00000504120.2 + 1 1086 c.1086C>T c.(1084-1086)gaC>gaT p.D362D PCDHA1_ENST00000378133.3_Silent_p.D362D|PCDHA1_ENST00000394633.3_Silent_p.D362D NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGAGGACGCTCCACTCA 0.517000 31 9 0 0 0.008361 0 0 NUDT22 84304 broad.mit.edu 37 11 63995073 63995073 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:63995073G>C ENST00000279206.3 + 3 670 c.514G>C c.(514-516)Gac>Cac p.D172H NUDT22_ENST00000441250.2_Intron NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 172 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 CCAGCACCAGGACCTCGCTGG 0.612000 10 70 0 0 0.001368 0 0 BTBD3 22903 broad.mit.edu 37 20 11903919 11903919 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:11903919G>C ENST00000405977.1 + 5 1799 c.1174G>C c.(1174-1176)Ggt>Cgt p.G392R BTBD3_ENST00000399006.2_Missense_Mutation_p.G331R|BTBD3_ENST00000254977.3_Missense_Mutation_p.G331R|BTBD3_ENST00000378226.2_Missense_Mutation_p.G392R Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 392 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GCGCTATCGTGGTCGCTGTGA 0.522000 21 41 0 0 0.008871 0 0 GPR26 2849 broad.mit.edu 37 10 125426162 125426162 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:125426162G>C ENST00000284674.1 + 1 292 c.239G>C c.(238-240)cGc>cCc p.R80P NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 80 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CGCCTGTGCCGCCTGGCTGCC 0.701000 7 1 0 0 0.001984 0 0 OR6N1 128372 broad.mit.edu 37 1 158735734 158735734 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:158735734C>G ENST00000335094.2 - 1 758 c.739G>C c.(739-741)Gtg>Ctg p.V247L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) ATGAGAACCACAGTGAAGTGG 0.532000 62 52 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238253296 238253296 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:238253296G>T ENST00000295550.4 - 36 7817 c.7365C>A c.(7363-7365)acC>acA p.T2455T COL6A3_ENST00000472056.1_Silent_p.T1848T|COL6A3_ENST00000346358.4_Silent_p.T2255T|COL6A3_ENST00000347401.3_Silent_p.T2254T|COL6A3_ENST00000353578.4_Silent_p.T2249T|COL6A3_ENST00000409809.1_Silent_p.T2249T NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2455 Nonhelical region.|VWFA 11. 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) GGATCTCCGTGGTCACCTCGT 0.547000 26 66 3.28513e-13 4.67916e-13 0.003954 1 0 PADI3 51702 broad.mit.edu 37 1 17603297 17603297 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:17603297G>T ENST00000375460.3 + 13 1521 c.1481G>T c.(1480-1482)gGg>gTg p.G494V NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 494 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) GCCAGCCCTGGGGCCTGCTTC 0.627000 3 16 0.00909568 0.0094583 0.009096 1 0 NRCAM 4897 broad.mit.edu 37 7 107818536 107818536 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:107818536A>C ENST00000379028.3 - 26 3343 c.2873T>G c.(2872-2874)tTg>tGg p.L958W NRCAM_ENST00000413765.2_Missense_Mutation_p.L939W|NRCAM_ENST00000379022.4_Missense_Mutation_p.L958W|NRCAM_ENST00000379024.4_Missense_Mutation_p.L939W|NRCAM_ENST00000425651.2_Missense_Mutation_p.L958W|NRCAM_ENST00000351718.4_Missense_Mutation_p.L942W Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 958 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CACAATCTTCAAAGACGAGGG 0.438000 28 7 0 0 0.006320 0 0 SPP1 6696 broad.mit.edu 37 4 88898093 88898093 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:88898093G>T ENST00000237623.7 + 2 194 c.46G>T c.(46-48)Gcc>Tcc p.A16S SPP1_ENST00000360804.4_Missense_Mutation_p.A16S|SPP1_ENST00000395080.3_Missense_Mutation_p.A16S|SPP1_ENST00000509659.1_3'UTR NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 16 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CATCACCTGTGCCATACCAGT 0.388000 8 8 0.00307968 0.0032538 0.003080 1 0 CHML 1122 broad.mit.edu 37 1 241797805 241797805 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:241797805T>C ENST00000366553.1 - 1 1427 c.1264A>G c.(1264-1266)Ata>Gta p.I422V OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 422 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AAGTGATCTATAATTGCTTTA 0.353000 33 8 0 0 0.009535 0 0 CR2 1380 broad.mit.edu 37 1 207651379 207651379 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:207651379C>A ENST00000367057.3 + 16 3241 c.3052C>A c.(3052-3054)Cac>Aac p.H1018N CR2_ENST00000458541.2_Missense_Mutation_p.H932N|CR2_ENST00000367059.3_Missense_Mutation_p.H897N|CR2_ENST00000367058.3_Missense_Mutation_p.H959N NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 959 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CCAATCGGATCACCAATGGAA 0.522000 6 6 0.00116845 0.00124079 0.001168 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28307054 28307054 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:28307054C>A ENST00000284987.5 - 4 1541 c.1420G>T c.(1420-1422)Gac>Tac p.D474Y AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 474 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CGTGGTAGGTCCAGCAAACAG 0.507000 27 7 8.58068e-18 1.3862e-17 0.007291 1 0 NPHS1 4868 broad.mit.edu 37 19 36322587 36322587 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:36322587C>A ENST00000378910.5 - 24 3243 c.3244G>T c.(3244-3246)Ggg>Tgg p.G1082W NPHS1_ENST00000353632.6_Intron NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1082 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGACCCCCCCGACACAGGAG 0.652000 7 10 0.000157383 0.000171941 0.003080 1 0 MYO18B 84700 broad.mit.edu 37 22 26423063 26423063 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:26423063C>A ENST00000335473.7 + 43 7373 c.7123C>A c.(7123-7125)Ctg>Atg p.L2375M MYO18B_ENST00000407587.2_Missense_Mutation_p.L2376M|MYO18B_ENST00000536101.1_Missense_Mutation_p.L2375M NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2375 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGGGACATGCTGTTGTCGCC 0.567000 61 21 3.79397e-19 6.26656e-19 0.003610 1 0 DDN 23109 broad.mit.edu 37 12 49390743 49390743 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:49390743C>A ENST00000421952.2 - 2 1937 c.1916G>T c.(1915-1917)gGc>gTc p.G639V NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 639 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 ATCAGAGGAGCCGCTATGGAC 0.657000 OREG0021778 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 6 0.000157383 0.000171941 0.003080 1 0 VAMP4 8674 broad.mit.edu 37 1 171679938 171679938 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:171679938C>A ENST00000236192.7 - 5 567 c.181G>T c.(181-183)Gat>Tat p.D61Y VAMP4_ENST00000367740.2_Missense_Mutation_p.D60Y|VAMP4_ENST00000415773.1_Missense_Mutation_p.D60Y|VAMP4_ENST00000482519.1_5'UTR NM_001185127.1|NM_003762.4 NP_001172056.1|NP_003753.2 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 61 v-SNARE coiled-coil homology. vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) ATAACTTCATCCACTTGATTC 0.303000 16 56 2.31682e-05 2.62266e-05 0.003163 1 0 MUC16 94025 broad.mit.edu 37 19 9088131 9088131 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:9088131T>A ENST00000397910.4 - 1 3887 c.3684A>T c.(3682-3684)tcA>tcT p.S1228S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1228 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 ATGCCTCCAATGATGTGGCTG 0.512000 151 62 0 0 0.003610 0 0 KCNB2 9312 broad.mit.edu 37 8 73849053 73849053 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:73849053C>T ENST00000523207.1 + 3 2051 c.1463C>T c.(1462-1464)tCg>tTg p.S488L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 488 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AATCACCTGTCGCCAAGCCGG 0.527000 20 236 0 0 0.012319 0 0 STRA8 346673 broad.mit.edu 37 7 134939889 134939889 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:134939889C>A ENST00000275764.3 + 8 830 c.830C>A c.(829-831)cCa>cAa p.P277Q NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 277 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 AGCTGCAACCCAGAAAACCCA 0.443000 49 58 1.32667e-27 2.42481e-27 0.003610 1 0 ERCC5 2073 broad.mit.edu 37 13 103514550 103514550 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:103514550G>T ENST00000355739.4 + 8 2474 c.1051G>T c.(1051-1053)Gcc>Tcc p.A351S BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.C776F NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TATGCAAGCTGCCCTGCTGGG 0.512000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 24 41 9.95505e-16 1.53683e-15 0.002299 1 0 FNDC1 84624 broad.mit.edu 37 6 159653822 159653822 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:159653822C>T ENST00000297267.9 + 11 2478 c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W FNDC1_ENST00000340366.6_Missense_Mutation_p.R697W NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 760 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TGCGCCATCACGGTCCACCAT 0.622000 18 20 0 0 0.008871 0 0 TBC1D4 9882 broad.mit.edu 37 13 75884154 75884154 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:75884154C>G ENST00000377636.3 - 14 2863 c.2517G>C c.(2515-2517)ctG>ctC p.L839L TBC1D4_ENST00000377625.2_Silent_p.L776L|TBC1D4_ENST00000425511.1_Silent_p.L56L|TBC1D4_ENST00000431480.2_Silent_p.L831L NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 839 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ACAAGCTCCTCAGTTCTTTTG 0.418000 11 30 0 0 0.008291 0 0 BRWD3 254065 broad.mit.edu 37 X 79960239 79960239 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:79960239C>A ENST00000373275.4 - 23 2875 c.2659G>T c.(2659-2661)Gat>Tat p.D887Y BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 887 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTTTCCTCATCAGAGCTGCTG 0.348000 23 6 1.55795e-14 2.32485e-14 0.012319 1 0 SCCPDH 51097 broad.mit.edu 37 1 246890200 246890200 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:246890200C>A ENST00000366510.3 + 2 573 c.197C>A c.(196-198)cCa>cAa p.P66Q NM_016002.2 NP_057086.2 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 66 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) TTAGGAAGACCAACACTGTCA 0.368000 5 21 0.000602214 0.000646077 0.000602 1 0 ENPEP 2028 broad.mit.edu 37 4 111464189 111464189 + Missense_Mutation SNP C C A rs139405480 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:111464189C>A ENST00000265162.5 + 13 2305 c.1963C>A c.(1963-1965)Cgt>Agt p.R655S NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 655 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TTCAGCAGATCGTGCAAGTCT 0.333000 27 11 8.53417e-09 1.08696e-08 0.002836 1 0 ZNF645 158506 broad.mit.edu 37 X 22291375 22291375 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:22291375A>T ENST00000323684.1 + 1 311 c.267A>T c.(265-267)ggA>ggT p.G89G NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 89 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 ACAAAGTCGGATATAAAGTAT 0.403000 23 15 0 0 0.003954 0 0 PSD4 23550 broad.mit.edu 37 2 113950125 113950125 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:113950125G>T ENST00000245796.6 + 6 1992 c.1797G>T c.(1795-1797)gaG>gaT p.E599D PSD4_ENST00000441564.2_Missense_Mutation_p.E571D NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 599 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCGCCTGGAGGGCTTCCGGA 0.597000 21 20 4.63292e-17 7.35161e-17 0.008871 1 0 RHEBL1 121268 broad.mit.edu 37 12 49459156 49459156 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:49459156C>A ENST00000301068.6 - 7 678 c.439G>T c.(439-441)Gag>Tag p.E147* NM_144593.1 NP_653194.1 Q8TAI7 REBL1_HUMAN Ras homolog enriched in brain like 1 147 positive regulation of NF-kappaB transcription factor activity|small GTPase mediated signal transduction|TOR signaling cascade cytoplasm|plasma membrane GTP binding|GTPase activity|protein binding breast(2)|large_intestine(2)|lung(5) 9 GCAGATGACTCCATAAATGTC 0.478000 84 96 4.31119e-35 8.21553e-35 0.003610 1 0 CPB2 1361 broad.mit.edu 37 13 46648091 46648091 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:46648091C>A ENST00000181383.4 - 6 524 c.508G>T c.(508-510)Gcc>Tcc p.A170S CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.A170S NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 170 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GCATTTTTGGCTGCTTGTTCT 0.383000 12 5 6.40141e-05 7.11142e-05 0.010729 1 0 RNF165 494470 broad.mit.edu 37 18 44030685 44030685 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:44030685G>T ENST00000269439.7 + 6 790 c.739G>T c.(739-741)Gac>Tac p.D247Y RNF165_ENST00000543885.1_Missense_Mutation_p.D55Y NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 247 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GCAGCTCGAGGACAGGTTGGG 0.522000 23 31 4.59853e-10 6.0413e-10 0.005443 1 0 SP140 11262 broad.mit.edu 37 2 231106193 231106193 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:231106193G>T ENST00000392045.3 + 4 595 c.481G>T c.(481-483)Ggt>Tgt p.G161C SP140_ENST00000350136.5_Missense_Mutation_p.G141C|SP140_ENST00000486687.2_Missense_Mutation_p.G161C|SP140_ENST00000417495.3_Missense_Mutation_p.G161C|SP140_ENST00000343805.6_Missense_Mutation_p.G161C|SP140_ENST00000420434.3_Missense_Mutation_p.G161C NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 161 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACTACCATATGGTAAACAAGG 0.363000 11 11 0.000978159 0.00104404 0.010729 1 0 EIF2B2 8892 broad.mit.edu 37 14 75469831 75469831 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:75469831C>T ENST00000266126.5 + 1 218 c.138C>T c.(136-138)atC>atT p.I46I NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 46 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) GCCAGATCATCACGGACCACC 0.667000 8 33 0 0 0.003080 0 0 GANAB 23193 broad.mit.edu 37 11 62400735 62400735 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:62400735C>A ENST00000346178.4 - 8 720 c.705G>T c.(703-705)gaG>gaT p.E235D GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000534779.1_Missense_Mutation_p.E121D|GANAB_ENST00000540933.1_Missense_Mutation_p.E116D|GANAB_ENST00000356638.3_Missense_Mutation_p.E213D NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 213 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TCCCCTGAGTCTCCTCTGGCT 0.527000 66 68 9.65139e-37 1.84764e-36 0.003610 1 0 GPR158 57512 broad.mit.edu 37 10 25839917 25839917 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:25839917T>C ENST00000376351.3 + 6 1776 c.1417T>C c.(1417-1419)Tac>Cac p.Y473H NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 473 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 TGTTATTTTGTACTTTGAGCC 0.423000 11 44 0 0 0.010729 0 0 PDLIM7 9260 broad.mit.edu 37 5 176923490 176923490 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:176923490C>T ENST00000355841.2 - 2 90 c.24G>A c.(22-24)ctG>ctA p.L8L PDLIM7_ENST00000359895.2_Silent_p.L8L|PDLIM7_ENST00000393551.1_Silent_p.L8L|RP11-1334A24.6_ENST00000506025.1_RNA|PDLIM7_ENST00000356618.4_Silent_p.L8L|PDLIM7_ENST00000355572.2_Silent_p.L8L NM_005451.3 NP_005442.2 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 (enigma) 8 PDZ. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGCCCCTCCAGCACTACTT 0.642000 5 5 0 0 0.000602 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751263 162751263 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:162751263G>T ENST00000375514.5 + 11 1499 c.1212G>T c.(1210-1212)caG>caT p.Q404H SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q423H|SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q393H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q393H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R394M|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q423H NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 423 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTCTGGATCAGGTTACTGTTC 0.363000 25 44 1.64293e-13 2.37523e-13 0.003330 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121653039 121653039 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:121653039T>A ENST00000393386.2 + 12 4350 c.3939T>A c.(3937-3939)gcT>gcA p.A1313A PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1313 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ATGTATTTGCTACACCTGTTT 0.373000 18 13 0 0 0.007413 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617822 54617822 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:54617822C>T ENST00000302287.3 + 4 999 c.593C>T c.(592-594)cCt>cTt p.P198L VSTM2A_ENST00000404951.1_Missense_Mutation_p.P198L|VSTM2A_ENST00000407838.3_Missense_Mutation_p.P198L|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.P197L|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P198L Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 198 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) ACCTCCAGCCCTCAAGTGGTA 0.522000 13 10 0 0 0.002450 0 0 MYPN 84665 broad.mit.edu 37 10 69881364 69881364 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:69881364C>T ENST00000358913.5 + 2 657 c.169C>T c.(169-171)Caa>Taa p.Q57* MYPN_ENST00000373675.3_Nonsense_Mutation_p.Q57*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Nonsense_Mutation_p.Q57* NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 57 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGGCGGAGGCCAAGATGACCT 0.527000 20 44 0 0 0.010504 0 0 MYH2 4620 broad.mit.edu 37 17 10428089 10428089 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:10428089G>C ENST00000245503.5 - 34 5340 c.4956C>G c.(4954-4956)acC>acG p.T1652T MYH2_ENST00000397183.2_Silent_p.T1652T|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1652 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 GGATGCCTTGGGTGTTCCTGT 0.502000 50 54 0 0 0.003610 0 0 GRID2 2895 broad.mit.edu 37 4 94436514 94436514 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:94436514C>A ENST00000282020.4 + 13 2403 c.2145C>A c.(2143-2145)agC>agA p.S715R GRID2_ENST00000510992.1_Missense_Mutation_p.S620R NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 715 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) TCAACCGAAGCAATGGATCGG 0.468000 5 22 3.59834e-05 4.06599e-05 0.001168 1 0 FAM71C 196472 broad.mit.edu 37 12 100042044 100042044 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:100042044A>C ENST00000324341.1 + 1 514 c.92A>C c.(91-93)cAa>cCa p.Q31P ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 31 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CTGCAGCGGCAACTGTACAAA 0.493000 44 57 0 0 0.010771 0 0 PHLPP1 23239 broad.mit.edu 37 18 60612425 60612425 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:60612425G>A ENST00000400316.4 + 12 3490 c.1709G>A c.(1708-1710)tGc>tAc p.C570Y PHLPP1_ENST00000262719.5_Missense_Mutation_p.C1082Y NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1082 PH. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 ATCATGAATTGCAGGCGCATG 0.428000 39 14 0 0 0.004289 0 0 MYEF2 50804 broad.mit.edu 37 15 48444431 48444431 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:48444431C>A ENST00000324324.7 - 11 1417 c.1138_splice c.e11+1 p.G380_splice MYEF2_ENST00000267836.6_Splice_Site_p.G380_splice NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 380 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TTATACATACCTCCTCCAATT 0.299000 42 43 7.88023e-25 1.40542e-24 0.003610 1 0 LRRTM3 347731 broad.mit.edu 37 10 68686953 68686953 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:68686953C>A ENST00000361320.4 + 2 857 c.279C>A c.(277-279)gaC>gaA p.D93E CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 93 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 TATACCTTGACCATAACCATA 0.378000 39 37 5.71845e-15 8.64674e-15 0.005524 1 0 OR5D18 219438 broad.mit.edu 37 11 55587400 55587400 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:55587400G>T ENST00000333976.4 + 1 315 c.295G>T c.(295-297)Gta>Tta p.V99L NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TTTAGGATGCGTAGTACAATT 0.428000 37 119 1.30998e-17 2.11081e-17 0.005524 1 0 DENND5B 160518 broad.mit.edu 37 12 31577523 31577523 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:31577523G>T ENST00000389082.5 - 10 2601 c.2337C>A c.(2335-2337)gcC>gcA p.A779A DENND5B_ENST00000306833.6_Silent_p.A814A|DENND5B_ENST00000536562.1_Silent_p.A814A NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 779 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CACAAAGGCTGGCGATCAAGG 0.537000 84 23 7.2426e-40 1.39934e-39 0.003610 1 0 KCNJ3 3760 broad.mit.edu 37 2 155555868 155555868 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:155555868T>A ENST00000295101.2 + 1 1058 c.581T>A c.(580-582)cTc>cAc p.L194H KCNJ3_ENST00000544049.1_Missense_Mutation_p.L194H NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 194 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) GCCGAGACCCTCATGTTCAGC 0.597000 16 65 0 0 0.004007 0 0 OR4N2 390429 broad.mit.edu 37 14 20296176 20296176 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:20296176C>A ENST00000315947.1 + 1 569 c.569C>A c.(568-570)aCc>aAc p.T190N OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGCCTGCACCGACACATTT 0.522000 32 44 1.08312e-15 1.66389e-15 0.009535 1 0 ABI3 51225 broad.mit.edu 37 17 47295236 47295236 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:47295236C>A ENST00000225941.1 + 3 919 c.421C>A c.(421-423)Ctc>Atc p.L141I ABI3_ENST00000419580.2_Missense_Mutation_p.L135I NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 141 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CAGGAGACCCCTCAACTTTGG 0.637000 HNSCC(55;0.14) 55 13 1.59911e-31 2.99266e-31 0.003610 1 0 NSD1 64324 broad.mit.edu 37 5 176696757 176696757 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:176696757G>A ENST00000439151.2 + 16 5503 c.5458G>A c.(5458-5460)Gtg>Atg p.V1820M NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1820 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGAGGGTGACGTGAGCAGCAA 0.453000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 18 64 0 0 0.007413 0 0 LRP1B 53353 broad.mit.edu 37 2 141625381 141625381 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:141625381G>T ENST00000389484.3 - 27 5328 c.4357C>A c.(4357-4359)Ctc>Atc p.L1453I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1453 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) CCATCATAGAGGGCTGAATAA 0.388000 TSP Lung(27;0.18) 19 35 1.01871e-10 1.36118e-10 0.008871 1 0 PELO 53918 broad.mit.edu 37 5 52096767 52096767 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:52096767G>T ENST00000274311.2 + 2 1524 c.539G>T c.(538-540)cGg>cTg p.R180L ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 180 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) CAGCATGACCGGGCCTTGGAG 0.542000 51 53 2.6238e-40 5.08513e-40 0.003610 1 0 MYH6 4624 broad.mit.edu 37 14 23871692 23871692 + Silent SNP C C A rs148091079 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:23871692C>A ENST00000405093.3 - 12 1192 c.1122G>T c.(1120-1122)gcG>gcT p.A374A MYH6_ENST00000356287.3_Silent_p.A374A NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 374 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) CGTCTGGCTCCGCCTGCTCCT 0.617000 47 45 4.10826e-27 7.47608e-27 0.003610 1 0 KCNQ2 3785 broad.mit.edu 37 20 62076037 62076037 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:62076037C>A ENST00000354587.3 - 4 841 c.665G>T c.(664-666)gGc>gTc p.G222V KCNQ2_ENST00000370224.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000359125.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G222V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G222V O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 222 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GACCACAGAGCCCAGCAGCTT 0.687000 9 6 1.12685e-05 1.29552e-05 0.004482 1 0 NUP210 23225 broad.mit.edu 37 3 13420447 13420447 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:13420447T>C ENST00000254508.5 - 8 1092 c.1010A>G c.(1009-1011)aAc>aGc p.N337S NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 337 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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GATAGTGCTGTTGGGTAACCT 0.468000 46 22 0 0 0.003610 0 0 LIPC 3990 broad.mit.edu 37 15 58830623 58830623 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:58830623G>T ENST00000414170.3 + 3 467 c.180G>T c.(178-180)caG>caT p.Q60H LIPC_ENST00000356113.6_Missense_Mutation_p.Q60H|LIPC_ENST00000433326.2_Missense_Mutation_p.Q60H|LIPC_ENST00000299022.5_Missense_Mutation_p.Q60H P11150 LIPC_HUMAN lipase, hepatic 60 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AAACCAATCAGGGCTGTCAGA 0.483000 33 114 5.60225e-13 7.9524e-13 0.009535 1 0 PRAMEF11 440560 broad.mit.edu 37 1 12885036 12885036 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:12885036G>T ENST00000535591.1 - 4 1270 c.1075C>A c.(1075-1077)Ctg>Atg p.L359M NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 359 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 GTGTGGCTCAGCAGGTTCTCC 0.537000 71 217 2.1672e-28 3.97266e-28 0.003610 1 0 CLCA2 9635 broad.mit.edu 37 1 86900349 86900349 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:86900349C>T ENST00000370565.4 + 6 1055 c.893C>T c.(892-894)cCt>cTt p.P298L NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 298 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GAGCTTCCACCTCCTCCCACA 0.488000 31 48 0 0 0.003271 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146585 156146585 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:156146585C>T ENST00000368285.3 + 15 2350 c.2083C>T c.(2083-2085)Ctt>Ttt p.L695F SEMA4A_ENST00000355014.2_Missense_Mutation_p.L695F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.L563F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.L695F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.L563F NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 695 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TGCCTTAGTGCTTTCAGGAGC 0.637000 19 60 0 0 0.002780 0 0 MCTP1 79772 broad.mit.edu 37 5 94353140 94353140 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:94353140C>T ENST00000515393.1 - 2 768 c.769G>A c.(769-771)Gat>Aat p.D257N MCTP1_ENST00000505208.1_Missense_Mutation_p.D36N|MCTP1_ENST00000429576.2_Missense_Mutation_p.D36N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D36N NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 257 C2 1. 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) ATTCCGGGATCAGCCAAGGGG 0.378000 30 14 0 0 0.002836 0 0 USH2A 7399 broad.mit.edu 37 1 216172274 216172274 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:216172274C>A ENST00000366943.2 - 34 6998 c.6612G>T c.(6610-6612)atG>atT p.M2204I USH2A_ENST00000307340.3_Missense_Mutation_p.M2204I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2204 Fibronectin type-III 8. 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) CGTATTGTAGCATATGATCCT 0.368000 HNSCC(13;0.011) 11 22 2.80697e-09 3.61929e-09 0.010729 1 0 USH2A 7399 broad.mit.edu 37 1 216019345 216019345 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:216019345T>G ENST00000366943.2 - 45 9262 c.8876A>C c.(8875-8877)tAt>tCt p.Y2959S USH2A_ENST00000307340.3_Missense_Mutation_p.Y2959S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2959 Fibronectin type-III 16. 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) AAGTGTGTAATATTCAACTTC 0.393000 HNSCC(13;0.011) 20 9 0 0 0.012319 0 0 STEAP1 26872 broad.mit.edu 37 7 89790487 89790487 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:89790487A>G ENST00000297205.2 + 3 653 c.453A>G c.(451-453)ccA>ccG p.P151P STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 151 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) AGAAGTTTCCACATTGGTTGG 0.403000 18 55 0 0 0.007413 0 0 HHIPL2 79802 broad.mit.edu 37 1 222712052 222712052 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:222712052G>A ENST00000343410.6 - 5 1573 c.1515C>T c.(1513-1515)gtC>gtT p.V505V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 505 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) AACCACGATAGACATAACCTC 0.468000 16 13 0 0 0.004007 0 0 FAM47C 442444 broad.mit.edu 37 X 37028078 37028078 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:37028078C>A ENST00000358047.3 + 1 1647 c.1595C>A c.(1594-1596)tCc>tAc p.S532Y NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 532 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATTCTGGTGTCCAGTCTCCAC 0.612000 151 27 3.64178e-58 7.22585e-58 0.003610 1 0 TTLL1 25809 broad.mit.edu 37 22 43460212 43460212 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:43460212G>T ENST00000331018.7 - 6 862 c.622C>A c.(622-624)Cca>Aca p.P208T TTLL1_ENST00000266254.7_Missense_Mutation_p.P208T O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 208 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) CAGCGCAGTGGACGGTACGTG 0.468000 19 8 7.45023e-12 1.02728e-11 0.010504 1 0 NAV3 89795 broad.mit.edu 37 12 78510664 78510664 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:78510664C>A ENST00000397909.2 + 13 2922 c.2749C>A c.(2749-2751)Ccc>Acc p.P917T NAV3_ENST00000266692.7_Missense_Mutation_p.P917T|NAV3_ENST00000228327.6_Missense_Mutation_p.P917T|NAV3_ENST00000536525.2_Missense_Mutation_p.P917T Q8IVL0 NAV3_HUMAN neuron navigator 3 917 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATCACCGTCCCCTCTAGGAA 0.433000 HNSCC(70;0.22) 45 54 3.2641e-12 4.55592e-12 0.013114 1 0 GMPS 8833 broad.mit.edu 37 3 155615827 155615827 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:155615827G>T ENST00000496455.1 + 3 656 c.321G>T c.(319-321)atG>atT p.M107I GMPS_ENST00000476145.1_3'UTR|GMPS_ENST00000295920.7_Intron NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 107 Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTATGGTATGCAGGTATGTC 0.358000 T MLL AML 48 133 5.2432e-18 8.51425e-18 0.003610 1 0 RBMS1 5937 broad.mit.edu 37 2 161174686 161174686 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:161174686A>G ENST00000348849.3 - 3 734 c.304T>C c.(304-306)Tgc>Cgc p.C102R RBMS1_ENST00000409289.2_Missense_Mutation_p.C69R|RBMS1_ENST00000392753.3_Missense_Mutation_p.C102R|RBMS1_ENST00000409075.1_Missense_Mutation_p.C69R|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.C69R NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 102 RRM 1. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) ATACCTTTGCATTTGTTCGTT 0.284000 6 21 0 0 0.001168 0 0 PHLDB2 90102 broad.mit.edu 37 3 111681104 111681104 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:111681104A>T ENST00000431670.2 + 13 3433 c.3022A>T c.(3022-3024)Agc>Tgc p.S1008C PHLDB2_ENST00000393923.3_Missense_Mutation_p.S992C|PHLDB2_ENST00000393925.3_Missense_Mutation_p.S1008C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S965C|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S499C|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S965C NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1008 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GAGCCTCGATAGCTCTGATAG 0.428000 68 44 0 0 0.003610 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400802 49400802 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:49400802C>T ENST00000374201.3 - 16 2392 c.2090G>A c.(2089-2091)gGc>gAc p.G697D FRMPD2_ENST00000407470.4_Missense_Mutation_p.G665D|FRMPD2_ENST00000305531.3_Missense_Mutation_p.G672D NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 697 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) ACTCAGCAGGCCTCCTGCAGC 0.537000 12 38 0 0 0.010729 0 0 RYR3 6263 broad.mit.edu 37 15 33895564 33895564 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:33895564A>G ENST00000389232.4 + 18 2233 c.2164_splice c.e18+1 p.S721_splice RYR3_ENST00000415757.3_Splice_Site_p.S721_splice NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 721 B30.2/SPRY 1. 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) ACCTTTGGTCAGGTGAGTACC 0.468000 106 90 0 0 0.003610 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683290 50683290 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:50683290C>A ENST00000008391.3 + 2 729 c.501C>A c.(499-501)agC>agA p.S167R NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 167 S -> N (in Ref. 1; AAK16926). DNA binding|sequence-specific DNA binding transcription factor activity p.S167S(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CAGGGCCCAGCCTGGGGCTGG 0.632000 51 62 1.56989e-16 2.47234e-16 0.003610 1 0 HSPA12B 116835 broad.mit.edu 37 20 3729935 3729935 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:3729935G>T ENST00000254963.2 + 9 1052 c.907G>T c.(907-909)Gta>Tta p.V303L HSPA12B_ENST00000542646.1_Missense_Mutation_p.V137L NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 303 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GGAGTCAGGCGTAGGAGAGCT 0.627000 5 20 1.23904e-05 1.41928e-05 0.000602 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188221 140188221 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:140188221C>A ENST00000530339.1 + 1 1449 c.1449C>A c.(1447-1449)gaC>gaA p.D483E PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D483E|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D483E NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACGCGGACGCGCAGGAGA 0.657000 37 16 1.59361e-14 2.37524e-14 0.006999 1 0 ZNF724P 440519 broad.mit.edu 37 19 23405738 23405738 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:23405738G>C ENST00000418100.1 - 4 1426 c.1309C>G c.(1309-1311)Ctt>Gtt p.L437V endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TGTGTAGTAAGTTGTGAGAAC 0.388000 12 34 0 0 0.010729 0 0 CHD6 84181 broad.mit.edu 37 20 40076594 40076594 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:40076594C>A ENST00000373233.3 - 24 3878 c.3701G>T c.(3700-3702)cGg>cTg p.R1234L CHD6_ENST00000309279.7_Missense_Mutation_p.R717L NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1234 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTACAGCATCCGGACTCGCAA 0.403000 42 33 3.43241e-23 5.99356e-23 0.009718 1 0 TNN 63923 broad.mit.edu 37 1 175067700 175067700 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:175067700G>A ENST00000239462.4 + 9 2201 c.2088G>A c.(2086-2088)gaG>gaA p.E696E NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 696 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGGACCAGGAGAGCAAGAAGG 0.582000 13 74 0 0 0.002450 0 0 GLRA1 2741 broad.mit.edu 37 5 151266284 151266284 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:151266284T>C ENST00000274576.4 - 3 542 c.250A>G c.(250-252)Atg>Gtg p.M84V GLRA1_ENST00000545569.1_Start_Codon_SNP_p.M1V|GLRA1_ENST00000455880.2_Missense_Mutation_p.M84V|GLRA1_ENST00000471351.2_5'UTR NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 84 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTACTCACCATGGTTGTCTCA 0.463000 40 15 0 0 0.008740 0 0 AIM1L 55057 broad.mit.edu 37 1 26664907 26664907 + Missense_Mutation SNP A A T rs151324745 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:26664907A>T ENST00000527815.1 - 6 833 c.784T>A c.(784-786)Tac>Aac p.Y262N AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Missense_Mutation_p.Y91N NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 91 Beta/gamma crystallin 'Greek key' 6. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GAGGTGGGGTACTCTCCAGGT 0.587000 22 56 0 0 0.002780 0 0 POM121L12 285877 broad.mit.edu 37 7 53103601 53103601 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:53103601G>T ENST00000408890.4 + 1 253 c.237G>T c.(235-237)gaG>gaT p.E79D NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 79 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACCTCATCGAGGTGCGGCCCA 0.711000 11 38 3.86212e-05 4.32502e-05 0.008291 1 0 ZNF662 389114 broad.mit.edu 37 3 42950387 42950387 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:42950387G>C ENST00000541208.1 + 3 506 c.137G>C c.(136-138)aGg>aCg p.R46T ZNF662_ENST00000440367.2_Missense_Mutation_p.R46T|ZNF662_ENST00000328199.6_Missense_Mutation_p.R106T|ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000422021.1_Missense_Mutation_p.R46T Q6ZS27 ZN662_HUMAN zinc finger protein 662 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) GAGGCCCCAAGGGGCATCTCC 0.517000 11 25 0 0 0.010729 0 0 PROX2 283571 broad.mit.edu 37 14 75321869 75321869 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:75321869G>C ENST00000556084.2 - 3 1063 c.1064C>G c.(1063-1065)cCa>cGa p.P355R PROX2_ENST00000556489.2_Missense_Mutation_p.P582R|PROX2_ENST00000445876.1_Missense_Mutation_p.P582R|RP11-316E14.6_ENST00000553381.1_RNA NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 582 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GAATATCTCTGGGATGTCACT 0.463000 3 9 0 0 0.004672 0 0 IDE 3416 broad.mit.edu 37 10 94230104 94230104 + Splice_Site SNP T T A rs139681738 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:94230104T>A ENST00000265986.6 - 18 2173 c.e18-2 IDE_ENST00000496903.1_Splice_Site|IDE_ENST00000371581.5_Splice_Site NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGTTACATCTGCAAAGGTGT 0.448000 27 80 0 0 0.004656 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883478 19883478 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:19883478C>A ENST00000300571.2 - 2 881 c.690G>T c.(688-690)aaG>aaT p.K230N GPRC5B_ENST00000569847.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000569479.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000537135.1_Missense_Mutation_p.K256N|GPRC5B_ENST00000535671.1_Missense_Mutation_p.K230N NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 230 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCCCGTTCAGCTTCCACCTCT 0.572000 31 34 9.65021e-13 1.36675e-12 0.010818 1 0 USP13 8975 broad.mit.edu 37 3 179460012 179460012 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:179460012A>C ENST00000263966.3 + 12 1879 c.1408A>C c.(1408-1410)Agc>Cgc p.S470R USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.S405R NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 470 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AGAAAACCCAAGCGATGTTTT 0.448000 8 21 0 0 0.008291 0 0 KLHL36 79786 broad.mit.edu 37 16 84695417 84695417 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:84695417G>T ENST00000564996.1 + 5 1670 c.1529G>T c.(1528-1530)cGc>cTc p.R510L KLHL36_ENST00000258157.5_Missense_Mutation_p.R447L NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 510 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TCCATGGAGCGCTTCGACGTG 0.682000 15 6 1.49906e-05 1.70931e-05 0.002450 1 0 CDH7 1005 broad.mit.edu 37 18 63525089 63525089 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:63525089T>A ENST00000536984.2 + 8 1967 c.1273T>A c.(1273-1275)Ttc>Atc p.F425I CDH7_ENST00000323011.3_Missense_Mutation_p.F425I|CDH7_ENST00000397968.2_Missense_Mutation_p.F425I Q9ULB5 CADH7_HUMAN cadherin 7, type 2 425 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) GGAGAGATACTTCAATATTGA 0.388000 12 23 0 0 0.001368 0 0 SERPINA3 12 broad.mit.edu 37 14 95080781 95080781 + Missense_Mutation SNP G G T rs140910224 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:95080781G>T ENST00000553947.1 + 5 966 c.78G>T c.(76-78)atG>atT p.M26I SERPINA3_ENST00000467132.1_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000393078.3_Start_Codon_SNP_p.M1I P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 1 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGTTGAGAATGGAGAGAATGT 0.592000 12 42 7.03913e-09 8.98368e-09 0.001368 1 0 PADI1 29943 broad.mit.edu 37 1 17552534 17552534 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:17552534A>G ENST00000375471.4 + 6 625 c.533A>G c.(532-534)cAg>cGg p.Q178R NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 178 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CCAGACCTGCAGGACATGTCC 0.562000 33 82 0 0 0.009535 0 0 FRMPD4 9758 broad.mit.edu 37 X 12722507 12722507 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:12722507C>G ENST00000380682.1 + 11 1606 c.1100C>G c.(1099-1101)cCc>cGc p.P367R NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 367 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 ACTTTTCTTCCCTCTGCTGTG 0.373000 16 16 0 0 0.003163 0 0 DCHS1 8642 broad.mit.edu 37 11 6661763 6661763 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:6661763G>T ENST00000299441.3 - 2 1493 c.1082C>A c.(1081-1083)tCc>tAc p.S361Y NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 361 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACAGTCATGGAGGGCTGATT 0.582000 16 41 3.57192e-18 5.83057e-18 0.006122 1 0 TEKT4 150483 broad.mit.edu 37 2 95539816 95539816 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:95539816G>T ENST00000295201.4 + 3 813 c.676G>T c.(676-678)Gtg>Ttg p.V226L AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 226 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GAGCACCGAGGTGCAGGCTCA 0.652000 19 57 1.00905e-13 1.47069e-13 0.008871 1 0 HMCN1 83872 broad.mit.edu 37 1 186064396 186064396 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:186064396C>A ENST00000271588.4 + 68 10545 c.10316C>A c.(10315-10317)tCa>tAa p.S3439* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S3439* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3439 Ig-like C2-type 33. response to stimulus|visual perception basement membrane calcium ion binding p.S3439*(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATGGACAATTCAATGGGGACA 0.383000 25 31 7.01153e-11 9.39876e-11 0.007291 1 0 RGS7BP 401190 broad.mit.edu 37 5 63905072 63905072 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:63905072C>A ENST00000334025.2 + 6 1093 c.767C>A c.(766-768)tCa>tAa p.S256* NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 256 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) TGTCTCATCTCAAGCTAGGTG 0.478000 20 4 2.37509e-13 3.41402e-13 0.010504 1 0 TSHZ3 57616 broad.mit.edu 37 19 31767539 31767539 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:31767539G>T ENST00000240587.4 - 2 3487 c.3160C>A c.(3160-3162)Cac>Aac p.H1054N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1054 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTAACAGCGTGCTTGCTGGCA 0.478000 22 32 7.45023e-12 1.02728e-11 0.010504 1 0 PLD1 5337 broad.mit.edu 37 3 171431773 171431773 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:171431773A>T ENST00000356327.5 - 9 891 c.821T>A c.(820-822)tTc>tAc p.F274Y PLD1_ENST00000351298.4_Missense_Mutation_p.F274Y|PLD1_ENST00000340989.4_Missense_Mutation_p.F274Y|PLD1_ENST00000342215.6_Missense_Mutation_p.F274Y NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 274 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CAGCAGGACGAAGGCAATGGC 0.358000 29 28 0 0 0.008361 0 0 BICC1 80114 broad.mit.edu 37 10 60272971 60272971 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:60272971G>T ENST00000373886.3 + 1 72 c.68G>T c.(67-69)aGc>aTc p.S23I NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 23 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 AGCGAGCGCAGCACCGACTCC 0.751000 7 3 0.00198382 0.00209953 0.001984 1 0 SPTBN1 6711 broad.mit.edu 37 2 54852007 54852007 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:54852007C>T ENST00000333896.5 + 10 1595 c.1210C>T c.(1210-1212)Cag>Tag p.Q404* SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.Q417* NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 417 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GCTCATAAGACAGGAGAAACT 0.493000 18 20 0 0 0.004990 0 0 MSH4 4438 broad.mit.edu 37 1 76262883 76262883 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:76262883C>T ENST00000263187.3 + 1 317 c.213C>T c.(211-213)ccC>ccT p.P71P NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 71 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 GCAGCCTTCCCTGCCCCGCGC 0.667000 Mismatch excision repair (MMR) 5 8 0 0 0.001168 0 0 CYYR1 116159 broad.mit.edu 37 21 27945254 27945254 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:27945254G>A ENST00000299340.4 - 1 349 c.6C>T c.(4-6)gaC>gaT p.D2D CYYR1_ENST00000435845.2_Silent_p.D110D|CYYR1_ENST00000400043.3_Silent_p.D2D NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 2 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GCCTCGGAGCGTCCATCCAAG 0.647000 25 22 0 0 0.004656 0 0 FZD10 11211 broad.mit.edu 37 12 130647701 130647701 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:130647701G>C ENST00000539839.1 + 1 698 c.116G>C c.(115-117)cGc>cCc p.R39P FZD10_ENST00000229030.4_Missense_Mutation_p.A72P NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GCACGAGTTCGCGCCGCTGGT 0.637000 35 29 0 0 0.003755 0 0 MGA 23269 broad.mit.edu 37 15 42058484 42058484 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:42058484A>G ENST00000219905.7 + 24 8385 c.8204A>G c.(8203-8205)aAt>aGt p.N2735S MGA_ENST00000570161.1_Missense_Mutation_p.N2735S|MGA_ENST00000566586.1_Missense_Mutation_p.N2526S|MGA_ENST00000389936.4_Missense_Mutation_p.N2696S|MGA_ENST00000545763.1_Missense_Mutation_p.N2526S NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2696 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GACGTTTCCAATATGCAGAAA 0.418000 4 27 0 0 0.009096 0 0 SEZ6 124925 broad.mit.edu 37 17 27308831 27308831 + Silent SNP G G A rs1976197 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:27308831G>A ENST00000317338.12 - 2 710 c.282C>T c.(280-282)ttC>ttT p.F94F SEZ6_ENST00000442608.3_Silent_p.F94F|SEZ6_ENST00000360295.9_Silent_p.F94F|SEZ6_ENST00000335960.6_Silent_p.F94F|PIPOX_ENST00000583215.1_Intron Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 94 Pro-rich. 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) GGTCAGGCTGGAAGGGCAGTG 0.632000 19 31 0 0 0.008871 0 0 GHR 2690 broad.mit.edu 37 5 42629194 42629194 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:42629194G>T ENST00000230882.4 + 3 315 c.125G>T c.(124-126)gGc>gTc p.G42V GHR_ENST00000357703.3_Intron|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 42 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTTAATCCAGGCCTAAAGACA 0.378000 48 2 6.03219e-31 1.12553e-30 0.003610 1 0 BEND6 221336 broad.mit.edu 37 6 56846713 56846713 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:56846713C>A ENST00000370748.3 + 2 540 c.105C>A c.(103-105)gaC>gaA p.D35E BEND6_ENST00000370746.3_Missense_Mutation_p.D35E|BEND6_ENST00000370750.2_Missense_Mutation_p.D35E|BEND6_ENST00000370745.1_Missense_Mutation_p.D35E Q5SZJ8 BEND6_HUMAN BEN domain containing 6 35 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 CAAATAGTGACATGGATAAAG 0.338000 19 21 4.35082e-09 5.58689e-09 0.010504 1 0 ARID4A 5926 broad.mit.edu 37 14 58772772 58772772 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:58772772T>C ENST00000355431.3 + 5 589 c.216T>C c.(214-216)gaT>gaC p.D72D ARID4A_ENST00000431317.2_Silent_p.D72D|ARID4A_ENST00000395168.3_Silent_p.D72D|ARID4A_ENST00000348476.3_Silent_p.D72D NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 72 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGACATCTGATGGATCTTTTC 0.348000 6 52 0 0 0.001168 0 0 APBB1 322 broad.mit.edu 37 11 6422868 6422868 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:6422868T>C ENST00000389906.2 - 9 1538 c.1439A>G c.(1438-1440)cAc>cGc p.H480R APBB1_ENST00000533407.1_Missense_Mutation_p.H219R|APBB1_ENST00000530885.1_Missense_Mutation_p.H258R|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.H478R|APBB1_ENST00000299402.6_Missense_Mutation_p.H478R NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 480 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GCGAAACACGTGGCACTTGAG 0.587000 16 25 0 0 0.004990 0 0 CCDC102B 79839 broad.mit.edu 37 18 66506000 66506000 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:66506000G>T ENST00000360242.5 + 3 781 c.664G>T c.(664-666)Gat>Tat p.D222Y CCDC102B_ENST00000358653.5_Missense_Mutation_p.D222Y|CCDC102B_ENST00000577772.1_3'UTR|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D222Y|CCDC102B_ENST00000319445.6_Missense_Mutation_p.D222Y NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 222 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GCCCAATCTAGATGGTGTTGA 0.373000 6 8 5.9392e-07 7.22632e-07 0.001168 1 0 AK7 122481 broad.mit.edu 37 14 96875234 96875234 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:96875234C>T ENST00000267584.4 + 4 498 c.454C>T c.(454-456)Ctg>Ttg p.L152L AK7_ENST00000554313.1_3'UTR NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 152 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATTTATTTTACTGTCGACGGT 0.468000 16 23 0 0 0.004990 0 0 OXCT2 64064 broad.mit.edu 37 1 40236278 40236278 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:40236278C>A ENST00000327582.5 - 1 742 c.650G>T c.(649-651)cGg>cTg p.R217L BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 217 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) GTTTCCTGCCCGGTCGGCCTT 0.622000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 13 2.52991e-16 3.9792e-16 0.003610 1 0 KRT72 140807 broad.mit.edu 37 12 52984737 52984737 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52984737C>A ENST00000293745.2 - 6 1057 c.972G>T c.(970-972)gaG>gaT p.E324D KRT72_ENST00000537672.2_Missense_Mutation_p.E324D|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000398066.3_Missense_Mutation_p.E136D NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 324 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TGACCTGCAGCTCCTGGATCT 0.542000 31 42 4.3181e-19 7.1135e-19 0.002836 1 0 CABP1 9478 broad.mit.edu 37 12 121098927 121098927 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:121098927G>A ENST00000453000.1 + 5 1313 c.801G>A c.(799-801)atG>atA p.M267I CABP1_ENST00000351200.2_Missense_Mutation_p.M128I|CABP1_ENST00000316803.3_Missense_Mutation_p.M331I|CABP1_ENST00000288616.3_Missense_Mutation_p.M188I Q9NZU7 CABP1_HUMAN calcium binding protein 1 331 EF-hand 2. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GAGAGGCTATGAGGAAGCTCC 0.532000 56 49 0 0 0.003610 0 0 VCAM1 7412 broad.mit.edu 37 1 101186080 101186080 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:101186080A>T ENST00000294728.2 + 2 214 c.113A>T c.(112-114)cAg>cTg p.Q38L VCAM1_ENST00000370115.1_Missense_Mutation_p.Q38L|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q38L|VCAM1_ENST00000370119.4_Missense_Mutation_p.Q38L NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 38 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TATCTTGCTCAGATTGGTGAC 0.433000 29 13 0 0 0.010818 0 0 MTERF 7978 broad.mit.edu 37 7 91504069 91504069 + Translation_Start_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:91504069T>A ENST00000419292.1 - 0 55 MTERF_ENST00000351870.3_Missense_Mutation_p.K13N|MTERF_ENST00000406735.2_De_novo_Start_OutOfFrame|CTB-104F4.2_ENST00000454222.1_RNA Q99551 MTERF_HUMAN mitochondrial transcription termination factor DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) AGTTCAAACCTTTTGAAATGC 0.343000 7 14 0 0 0.003080 0 0 POU3F3 5455 broad.mit.edu 37 2 105472187 105472187 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:105472187C>G ENST00000361360.2 + 1 219 c.219C>G c.(217-219)gtC>gtG p.V73V RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 73 Gly-rich. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCAAGATGGTCCAGAGCGACT 0.761000 4 18 0 0 0.009096 0 0 FAM24A 118670 broad.mit.edu 37 10 124672368 124672368 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:124672368C>A ENST00000368894.1 + 3 337 c.216C>A c.(214-216)acC>acA p.T72T NM_001029888.1 NP_001025059.1 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 72 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) AAGCCACCACCATGGAGTCTT 0.502000 20 46 1.33834e-09 1.73817e-09 0.007413 1 0 OR2T34 127068 broad.mit.edu 37 1 248737347 248737347 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:248737347C>A ENST00000328782.2 - 1 733 c.712G>T c.(712-714)Ggc>Tgc p.G238C NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G238S(1) breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCCTGCGGCCGGCGGCAGAA 0.562000 108 69 3.10586e-51 6.13333e-51 0.003610 1 0 CCDC11 220136 broad.mit.edu 37 18 47788483 47788483 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:47788483C>A ENST00000398545.4 - 2 293 c.176G>T c.(175-177)cGg>cTg p.R59L NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 59 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) CAAGCGATCCCGCTCACTTGA 0.478000 20 29 8.28177e-16 1.28168e-15 0.007413 1 0 GP5 2814 broad.mit.edu 37 3 194118183 194118183 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:194118183G>T ENST00000401815.1 - 1 900 c.829C>A c.(829-831)Ccg>Acg p.P277T GP5_ENST00000323007.3_Missense_Mutation_p.P277T P40197 GPV_HUMAN glycoprotein V (platelet) 277 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TCTGCCAGCGGGTTCTCGAAC 0.617000 21 23 8.10497e-08 1.00669e-07 0.010504 1 0 CFAP54 144535 broad.mit.edu 37 12 97147590 97147590 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:97147590T>A ENST00000524981.3 + 23 3107 c.3107T>A c.(3106-3108)cTt>cAt p.L1036H Q6ZTY8 CL063_HUMAN 1010 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 TTACCTGCTCTTCATCTGTTT 0.433000 37 61 0 0 0.003755 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151055096 151055096 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:151055096G>T ENST00000367328.1 + 3 591 c.279G>T c.(277-279)gtG>gtT p.V93V PLEKHG1_ENST00000358517.2_Silent_p.V93V NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 93 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGTGGAGAGTGGACTCAAACG 0.602000 25 8 7.88262e-20 1.31063e-19 0.003330 1 0 AVPR1A 552 broad.mit.edu 37 12 63543938 63543938 + Missense_Mutation SNP C C A rs112945642 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:63543938C>A ENST00000299178.2 - 1 784 c.679G>T c.(679-681)Gcg>Tcg p.A227S NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 227 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) ACCACGGGCGCCACAAAGATG 0.622000 51 75 4.00472e-15 6.06277e-15 0.003610 1 0 CCDC54 84692 broad.mit.edu 37 3 107096481 107096481 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:107096481T>A ENST00000261058.1 + 1 294 c.47T>A c.(46-48)aTg>aAg p.M16K NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 16 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GCTAGGCAGATGTGGACTTCA 0.418000 59 51 0 0 0.003610 0 0 TBX19 9095 broad.mit.edu 37 1 168282075 168282075 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:168282075G>T ENST00000367821.3 + 8 1233 c.1182G>T c.(1180-1182)gtG>gtT p.V394V TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 394 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CCCCTTCTGTGCTCTCCACCC 0.647000 13 60 5.50884e-06 6.38617e-06 0.001368 1 0 SNHG14 104472715 broad.mit.edu 37 15 25474020 25474020 + RNA SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:25474020G>C ENST00000453082.2 + 0 1332 NR_003343.1 CTGAAACTCTGACCCTTCCTG 0.592000 32 27 0 0 0.008361 0 0 FHOD3 80206 broad.mit.edu 37 18 34298168 34298168 + Silent SNP G G T rs73949877 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:34298168G>T ENST00000257209.4 + 16 2504 c.2382G>T c.(2380-2382)ccG>ccT p.P794P FHOD3_ENST00000359247.4_Silent_p.P777P|FHOD3_ENST00000445677.1_Silent_p.P756P|FHOD3_ENST00000590592.1_Silent_p.P969P|FHOD3_ENST00000591635.1_Intron NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 777 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AAACAGCGCCGGTGCAGCCGA 0.537000 43 97 6.33695e-27 1.1515e-26 0.007835 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767432 77767432 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:77767432A>G ENST00000521891.2 + 10 8723 c.8275A>G c.(8275-8277)Aca>Gca p.T2759A ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2733A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2714A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2714A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2714 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) TGTTAGTAAAACAGCAGAGCT 0.388000 HNSCC(33;0.089) 22 64 0 0 0.002299 0 0 ASTN1 460 broad.mit.edu 37 1 176905413 176905413 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:176905413G>C ENST00000367654.2 - 15 2508 c.2495C>G c.(2494-2496)gCc>gGc p.A832G ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Missense_Mutation_p.A824G|ASTN1_ENST00000367657.3_Missense_Mutation_p.A824G|ASTN1_ENST00000361833.2_Missense_Mutation_p.A824G O14525 ASTN1_HUMAN astrotactin 1 832 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTGAGAGATGGCCACTTGGTT 0.542000 11 50 0 0 0.010729 0 0 MYBPC1 4604 broad.mit.edu 37 12 102057219 102057219 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:102057219C>A ENST00000549145.1 + 21 2301 c.2201C>A c.(2200-2202)cCt>cAt p.P734H MYBPC1_ENST00000361466.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P702H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P707H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P622H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P708H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000547405.1_Missense_Mutation_p.P695H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P709H Q00872 MYPC1_HUMAN myosin binding protein C, slow type 721 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ACAAGCCCTCCTACTCTTCTG 0.453000 38 80 4.14481e-20 6.90067e-20 0.006230 1 0 ENGASE 64772 broad.mit.edu 37 17 77077075 77077075 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:77077075A>T ENST00000579016.1 + 6 792 c.792A>T c.(790-792)ccA>ccT p.P264P ENGASE_ENST00000539857.2_Silent_p.P78P NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 264 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GGCAGGTCCCAGGGGGCCTGG 0.592000 15 33 0 0 0.003163 0 0 NLRP9 338321 broad.mit.edu 37 19 56223834 56223834 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:56223834T>G ENST00000332836.2 - 7 2651 c.2624A>C c.(2623-2625)cAg>cCg p.Q875P NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 875 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) TGCACATAACTGTCTGACACC 0.413000 33 9 0 0 0.004289 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976209 34976209 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:34976209C>A ENST00000242315.3 + 4 707 c.625C>A c.(625-627)Cgg>Agg p.R209R KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.R209R NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 209 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GACCTTTCAGCGGTGTAAAGT 0.507000 22 21 2.21704e-12 3.1118e-12 0.002780 1 0 BTBD10 84280 broad.mit.edu 37 11 13435091 13435091 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:13435091T>G ENST00000278174.5 - 6 1039 c.794A>C c.(793-795)aAa>aCa p.K265T BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T|BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 265 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) ATCTCTACATTTAATAGTGCT 0.323000 95 165 0 0 0.003610 0 0 GDF10 2662 broad.mit.edu 37 10 48429305 48429305 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:48429305G>T ENST00000224605.2 - 2 846 c.581C>A c.(580-582)gCg>gAg p.A194E NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 194 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGGTGGGGGCGCCAGGGCCAT 0.731000 21 5 1.22574e-08 1.55641e-08 0.002299 1 0 POLE 5426 broad.mit.edu 37 12 133209285 133209285 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:133209285G>T ENST00000320574.5 - 44 6144 c.6101C>A c.(6100-6102)tCc>tAc p.S2034Y POLE_ENST00000535270.1_Missense_Mutation_p.S2007Y NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 2034 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGCCTCCTGGGAGAGCTGGCT 0.647000 DNA polymerases (catalytic subunits) 31 36 3.86903e-22 6.67221e-22 0.002836 1 0 LOC653786 653786 broad.mit.edu 37 16 22588087 22588087 + RNA SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:22588087G>A ENST00000550753.1 + 0 2562 NR_003676.2 GTGGGACACCGTTCCCTGGAT 0.522000 7 31 0 0 0.001984 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158787225 158787225 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:158787225C>A ENST00000485419.1 + 1 173 c.4C>A c.(4-6)Cgt>Agt p.R2S IQCJ_ENST00000481796.1_Intron|IQCJ_ENST00000482126.1_Missense_Mutation_p.R2S|IQCJ_ENST00000451172.1_Missense_Mutation_p.R2S|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R2S|IQCJ_ENST00000397832.2_Missense_Mutation_p.R2S|IQCJ-SCHIP1_ENST00000467442.1_Intron NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CTTCAAAATGCGTCTGGTAAT 0.408000 14 45 1.02788e-11 1.41109e-11 0.004990 1 0 DIS3 22894 broad.mit.edu 37 13 73350083 73350083 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:73350083C>T ENST00000377767.4 - 5 902 c.802G>A c.(802-804)Gac>Aac p.D268N DIS3_ENST00000545453.1_Missense_Mutation_p.D106N|DIS3_ENST00000377780.4_Missense_Mutation_p.D238N NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 268 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding p.D268N(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCTTCATTGTCGCCATGAATC 0.303000 Multiple Myeloma(4;0.011) 5 14 0 0 0.000602 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124209239 124209239 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:124209239C>T ENST00000330342.3 + 4 581 c.333C>T c.(331-333)gtC>gtT p.V111V NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 111 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TGAGAGAAGTCACTAAGAACA 0.398000 51 174 0 0 0.003610 0 0 MORC1 27136 broad.mit.edu 37 3 108773722 108773722 + Missense_Mutation SNP C C G rs114679116 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:108773722C>G ENST00000232603.5 - 14 1265 c.1183G>C c.(1183-1185)Gca>Cca p.A395P MORC1_ENST00000483760.1_Missense_Mutation_p.A395P NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 395 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 ACCACGCCTGCGCCAAGTCTG 0.303000 31 20 0 0 0.009535 0 0 DBNDD1 79007 broad.mit.edu 37 16 90072808 90072808 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:90072808C>T ENST00000392973.3 - 3 1161 c.430G>A c.(430-432)Gac>Aac p.D144N DBNDD1_ENST00000002501.6_Missense_Mutation_p.D138N|DBNDD1_ENST00000568838.1_Missense_Mutation_p.D258N|DBNDD1_ENST00000304733.3_Missense_Mutation_p.D158N Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 138 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) CGCTCGGGGTCGCCTAGGGGC 0.682000 5 15 0 0 0.001168 0 0 RASSF2 9770 broad.mit.edu 37 20 4768348 4768348 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:4768348C>T ENST00000478553.1 - 7 714 c.e7-1 RASSF2_ENST00000379400.3_Silent_p.Q248Q|RASSF2_ENST00000379376.2_Silent_p.Q248Q P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 CACATGGGCCCTGGAGGATTC 0.557000 29 29 0 0 0.006320 0 0 MDGA1 266727 broad.mit.edu 37 6 37623514 37623514 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:37623514C>A ENST00000434837.2 - 4 1719 c.541G>T c.(541-543)Gac>Tac p.D181Y MDGA1_ENST00000297153.7_Missense_Mutation_p.D181Y|MDGA1_ENST00000505425.1_Missense_Mutation_p.D181Y NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 181 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCCCATTGTCCTGGCTGTGG 0.602000 12 5 0.00185496 0.00196481 0.001855 1 0 ZNF547 284306 broad.mit.edu 37 19 57883153 57883153 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:57883153C>A ENST00000282282.3 + 3 178 c.28C>A c.(28-30)Cat>Aat p.H10N AC003002.4_ENST00000597658.1_Missense_Mutation_p.H10N NM_173631.2 NP_775902.2 Q8IVP9 ZN547_HUMAN zinc finger protein 547 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 12 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTGGCAGGGTCATGTGGTTTT 0.408000 102 35 1.04275e-50 2.05593e-50 0.003610 1 0 CCDC85A 114800 broad.mit.edu 37 2 56420123 56420123 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:56420123G>A ENST00000407595.2 + 2 1290 c.788G>A c.(787-789)aGa>aAa p.R263K RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 263 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAGAAACCCAGAGCCTGTGGA 0.657000 17 37 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179469749 179469749 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179469749C>T ENST00000589042.1 - 280 54379 c.54155G>A c.(54154-54156)gGc>gAc p.G18052D TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9112D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15484D|TTN_ENST00000342175.6_Missense_Mutation_p.G9179D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8987D|TTN_ENST00000591111.1_Missense_Mutation_p.G16411D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16411 Fibronectin type-III 31. 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) GAACACTGAGCCAAGGCGATT 0.448000 84 108 0 0 0.003610 0 0 EPG5 57724 broad.mit.edu 37 18 43464770 43464770 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:43464770T>A ENST00000282041.5 - 30 5150 c.5116A>T c.(5116-5118)Atc>Ttc p.I1706F EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1706 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATGCCACTGATAAATACCTTG 0.398000 11 9 0 0 0.010729 0 0 APOB 338 broad.mit.edu 37 2 21237382 21237382 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:21237382C>A ENST00000233242.1 - 24 3907 c.3780G>T c.(3778-3780)gaG>gaT p.E1260D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1260 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) GGAGGTTGAACTCCTTCAGGC 0.458000 14 32 2.61681e-11 3.54957e-11 0.002450 1 0 UGT3A2 167127 broad.mit.edu 37 5 36066872 36066872 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:36066872A>G ENST00000282507.3 - 1 121 c.20T>C c.(19-21)cTt>cCt p.L7P UGT3A2_ENST00000513300.1_Missense_Mutation_p.L7P|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 7 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACTAGAAGAAGCACTCGCTG 0.607000 72 273 0 0 0.003610 0 0 TTC18 118491 broad.mit.edu 37 10 75053068 75053068 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:75053068C>T ENST00000310715.3 - 17 2053 c.1933G>A c.(1933-1935)Gca>Aca p.A645T TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.A114T|TTC18_ENST00000394865.1_Missense_Mutation_p.A645T|TTC18_ENST00000401621.2_Missense_Mutation_p.A645T|TTC18_ENST00000493787.1_5'UTR NM_145170.3 NP_660153.3 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 645 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTGACTTCTGCTTCAAATGCA 0.378000 18 15 0 0 0.007413 0 0 DOPEY2 9980 broad.mit.edu 37 21 37623566 37623566 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:37623566G>A ENST00000399151.3 + 22 5190 c.5105G>A c.(5104-5106)cGt>cAt p.R1702H NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1702 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAAGCCCAGCGTCACAGTAAG 0.423000 12 36 0 0 0.001368 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 43 0 0 0.000602 0 0 KLB 152831 broad.mit.edu 37 4 39409048 39409048 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:39409048C>T ENST00000257408.4 + 1 576 c.479C>T c.(478-480)cCc>cTc p.P160L NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 160 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AGGCTTTTCCCCGATGGAATA 0.383000 40 28 0 0 0.004878 0 0 WDFY3 23001 broad.mit.edu 37 4 85687018 85687018 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:85687018T>G ENST00000322366.6 - 32 5540 c.5133A>C c.(5131-5133)ggA>ggC p.G1711G WDFY3_ENST00000295888.4_Silent_p.G1711G Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1711 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAAGCCATCCTCCACCACTGA 0.403000 27 10 0 0 0.010818 0 0 OR2T10 127069 broad.mit.edu 37 1 248756850 248756850 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:248756850T>C ENST00000330500.2 - 1 250 c.220A>G c.(220-222)Att>Gtt p.I74V NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGACAGAAATATATGTCAAG 0.443000 12 26 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179451449 179451449 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179451449A>G ENST00000589042.1 - 308 64403 c.64179T>C c.(64177-64179)gaT>gaC p.D21393D TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.D12453D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.D18825D|TTN_ENST00000342175.6_Silent_p.D12520D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Silent_p.D12328D|TTN_ENST00000591111.1_Silent_p.D19752D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19752 Ig-like 113. 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) TAGCACCTCCATCACGTAGGG 0.478000 48 62 0 0 0.013114 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627303 140627303 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:140627303G>C ENST00000231173.3 + 1 2157 c.2157G>C c.(2155-2157)gcG>gcC p.A719A NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 719 A -> V (in a breast cancer sample; somatic mutation). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGCAGGGCGGCCTCAGTGG 0.647000 116 48 0 0 0.003610 0 0 SGK3 23678 broad.mit.edu 37 8 67755688 67755688 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:67755688A>G ENST00000396596.1 + 14 1194 c.978_splice c.e14-1 p.Y327_splice SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000345714.4_Splice_Site_p.Y327_splice|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000522398.1_Splice_Site_p.Y327_splice|SGK3_ENST00000521198.2_Splice_Site_p.Y327_splice|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.Y327_splice NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 327 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTTCTATAGTATCTTGCACCT 0.313000 4 66 0 0 0.009096 0 0 POU6F2 11281 broad.mit.edu 37 7 39379546 39379546 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:39379546C>A ENST00000518318.2 + 5 859 c.817C>A c.(817-819)Ccg>Acg p.P273T POU6F2_ENST00000403058.1_Missense_Mutation_p.P273T|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265T P78424 PO6F2_HUMAN POU class 6 homeobox 2 273 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 ctccagccccCCGCAGAAACC 0.622000 40 40 6.5261e-18 1.05838e-17 0.008740 1 0 MARCH5 54708 broad.mit.edu 37 10 94100552 94100552 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:94100552G>T ENST00000358935.2 + 3 693 c.361G>T c.(361-363)Gtg>Ttg p.V121L MARCH5_ENST00000467521.2_3'UTR NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 121 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 AGCAGTGACAGTGATGCAGGT 0.358000 44 29 1.89013e-27 3.44962e-27 0.003610 1 0 UNC13C 440279 broad.mit.edu 37 15 54305511 54305511 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:54305511C>A ENST00000545554.1 + 1 411 c.411C>A c.(409-411)agC>agA p.S137R UNC13C_ENST00000537900.1_Missense_Mutation_p.S137R|UNC13C_ENST00000260323.11_Missense_Mutation_p.S137R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 137 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) TAAGGAGTAGCACAGAAAACC 0.458000 7 26 8.12818e-05 8.99778e-05 0.001984 1 0 CBX2 84733 broad.mit.edu 37 17 77757746 77757746 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:77757746C>T ENST00000310942.4 + 5 608 c.504C>T c.(502-504)ccC>ccT p.P168P NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 168 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GACGAAAGCCCCTGCCCCCAG 0.677000 14 35 0 0 0.003163 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744686 70744686 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:70744686C>A ENST00000260126.3 - 2 929 c.223G>T c.(223-225)Ggc>Tgc p.G75C SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000528658.1_5'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 75 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GGGTTCGGGCCTTGCTTCAAC 0.652000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 69 6.40141e-05 7.11142e-05 0.010729 1 0 OR5T1 390155 broad.mit.edu 37 11 56043464 56043464 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:56043464G>T ENST00000313033.2 + 1 436 c.350G>T c.(349-351)tGt>tTt p.C117F NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTTCTTGCTTGTACTTTTGGA 0.403000 78 62 2.84431e-33 5.3874e-33 0.003610 1 0 STAT1 6772 broad.mit.edu 37 2 191843668 191843668 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:191843668G>A ENST00000361099.3 - 21 2174 c.1787C>T c.(1786-1788)cCg>cTg p.P596L STAT1_ENST00000392323.2_Missense_Mutation_p.P598L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.P596L|STAT1_ENST00000409465.1_Missense_Mutation_p.P596L NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 596 SH2. activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GAAGGTCCCCGGCTGCTGGTC 0.582000 13 22 0 0 0.001368 0 0 USP13 8975 broad.mit.edu 37 3 179426668 179426668 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:179426668G>T ENST00000263966.3 + 6 1199 c.728G>T c.(727-729)gGg>gTg p.G243V USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.G178V NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 243 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GGGGGCAACGGGCATGCGCTG 0.557000 31 59 3.99451e-17 6.35467e-17 0.009535 1 0 GPR158 57512 broad.mit.edu 37 10 25887846 25887846 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:25887846G>C ENST00000376351.3 + 11 3650 c.3291G>C c.(3289-3291)gaG>gaC p.E1097D GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1097 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 TTCTCCCAGAGAGGGCAAAAG 0.512000 19 61 0 0 0.006122 0 0 CHAT 1103 broad.mit.edu 37 10 50857553 50857553 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:50857553G>T ENST00000395562.2 + 11 1605 c.e11-1 CHAT_ENST00000351556.3_Splice_Site|CHAT_ENST00000455728.2_Splice_Site|CHAT_ENST00000337653.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site|CHAT_ENST00000395559.2_Splice_Site NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGTGCCCGCAGGACGCAGAGC 0.617000 16 6 1.5739e-10 2.08963e-10 0.004007 1 0 ARHGAP9 64333 broad.mit.edu 37 12 57873156 57873156 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:57873156C>T ENST00000393797.2 - 5 439 c.247G>A c.(247-249)Ggg>Agg p.G83R ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G12R|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G91R|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G12R|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G12R Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 12 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CCTAGGATCCCCCAGGAACTT 0.597000 23 40 0 0 0.003330 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136544 40136544 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:40136544C>A ENST00000278198.2 - 2 3262 c.1299G>T c.(1297-1299)ggG>ggT p.G433G LRRC4C_ENST00000528697.1_Silent_p.G433G|LRRC4C_ENST00000530763.1_Silent_p.G433G|LRRC4C_ENST00000527150.1_Silent_p.G433G Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 433 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CAGTAGTATTCCCAACGGAAT 0.443000 27 119 4.22769e-11 5.71606e-11 0.006320 1 0 KIAA1324 57535 broad.mit.edu 37 1 109737089 109737089 + Missense_Mutation SNP C C G rs147403321 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:109737089C>G ENST00000369939.3 + 15 2177 c.1994C>G c.(1993-1995)cCg>cGg p.P665R KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.P578R NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 665 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CGCAACACTCCGACCAGGACT 0.557000 32 11 0 0 0.003271 0 0 ZFP57 346171 broad.mit.edu 37 6 29644687 29644687 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:29644687C>A ENST00000376883.1 - 3 445 c.34G>T c.(34-36)Gat>Tat p.D12Y ZFP57_ENST00000376881.3_Missense_Mutation_p.D12Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.D32Y Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 0 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CTCCAGCAATCTCTCTTCATG 0.547000 74 13 4.14589e-37 7.96114e-37 0.003610 1 0 RNF152 220441 broad.mit.edu 37 18 59483374 59483374 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:59483374T>A ENST00000312828.3 - 2 1422 c.323A>T c.(322-324)aAg>aTg p.K108M NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 108 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CGCACGCTCCTTGGAGATGGG 0.627000 36 28 0 0 0.003271 0 0 CCER1 196477 broad.mit.edu 37 12 91348150 91348150 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:91348150A>G ENST00000358859.2 - 1 803 c.370T>C c.(370-372)Tgc>Cgc p.C124R CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CCGCTCCAGCAGGAGCAGCAG 0.682000 15 25 0 0 0.004007 0 0 ATAD2 29028 broad.mit.edu 37 8 124361643 124361643 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:124361643T>C ENST00000287394.5 - 14 1795 c.1688A>G c.(1687-1689)gAc>gGc p.D563G ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCCTCTGCTGTCCAATCCATC 0.388000 18 113 0 0 0.010504 0 0 COL5A2 1290 broad.mit.edu 37 2 189975122 189975122 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:189975122T>A ENST00000374866.3 - 2 425 c.151A>T c.(151-153)Agg>Tgg p.R51W NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 51 VWFC. 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) CAAATGTCCCTGTTTAAGTAC 0.418000 18 30 0 0 0.012319 0 0 OR6B2 389090 broad.mit.edu 37 2 240969769 240969769 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:240969769C>A ENST00000402971.2 - 1 137 c.78G>T c.(76-78)ctG>ctT p.L26L NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGAGGAAGAGCAGGTACTGCA 0.607000 27 72 3.65163e-15 5.54835e-15 0.006320 1 0 IKZF5 64376 broad.mit.edu 37 10 124753978 124753978 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:124753978C>G ENST00000368886.5 - 5 898 c.578G>C c.(577-579)aGa>aCa p.R193T PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) TAGTGCTCTTCTGCTATAGCC 0.413000 31 88 0 0 0.002836 0 0 CADM3 57863 broad.mit.edu 37 1 159166236 159166236 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:159166236C>A ENST00000368125.4 + 6 931 c.774C>A c.(772-774)ggC>ggA p.G258G CADM3_ENST00000368124.4_Silent_p.G292G|CTA-134P22.2_ENST00000415675.2_RNA NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 258 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGGGTCGCGGCAATCCAGTGT 0.507000 OREG0013913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 3.86212e-05 4.32502e-05 0.008291 1 0 MUC16 94025 broad.mit.edu 37 19 9002659 9002659 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:9002659C>A ENST00000397910.4 - 51 40360 c.40157G>T c.(40156-40158)gGg>gTg p.G13386V MUC16_ENST00000380951.5_Missense_Mutation_p.G27V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13388 SEA 9. 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 GGTGGCTGCCCCATCCTTCTC 0.562000 48 12 1.63429e-32 3.07227e-32 0.003610 1 0 GNPAT 8443 broad.mit.edu 37 1 231406610 231406610 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:231406610G>C ENST00000366647.4 + 10 1555 c.1386G>C c.(1384-1386)tcG>tcC p.S462S GNPAT_ENST00000366646.3_Silent_p.S401S NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 462 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CCGGAGACTCGGAAGTGGTCG 0.507000 47 15 0 0 0.003610 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862951 10862951 + RNA SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:10862951T>G ENST00000559480.1 + 0 247 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TGCACAGAAGTTCCAGGCCAG 0.532000 94 127 0 0 0.003610 0 0 SLC9A8 23315 broad.mit.edu 37 20 48491357 48491357 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:48491357T>A ENST00000417961.1 + 11 1332 c.1123_splice c.e11+1 p.C374_splice SLC9A8_ENST00000541138.1_Splice_Site_p.C58_splice|SLC9A8_ENST00000539601.1_Splice_Site_p.C139_splice|SLC9A8_ENST00000361573.2_Splice_Site_p.C358_splice NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 358 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CCTTCTTATGTGGTGAGTTCT 0.547000 24 101 0 0 0.003954 0 0 ARC 23237 broad.mit.edu 37 8 143694774 143694774 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:143694774C>T ENST00000356613.2 - 1 2059 c.859G>A c.(859-861)Gag>Aag p.E287K NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 287 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) AGGTCCAGCTCGCGCTGGATG 0.642000 13 68 0 0 0.001368 0 0 EPB41L2 2037 broad.mit.edu 37 6 131211455 131211455 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:131211455C>A ENST00000337057.3 - 11 1820 c.1639G>T c.(1639-1641)Gtc>Ttc p.V547F EPB41L2_ENST00000368128.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525271.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000528282.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000392427.3_Missense_Mutation_p.V547F NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 547 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCCTGGAGACCCGTTTACTA 0.448000 64 19 3.07184e-27 5.59817e-27 0.003610 1 0 SIRPB2 284759 broad.mit.edu 37 20 1458023 1458023 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:1458023T>A ENST00000381630.1 - 4 550 c.527A>T c.(526-528)cAg>cTg p.Q176L SIRPB2_ENST00000537284.1_Silent_p.A135A|SIRPB2_ENST00000359801.3_Silent_p.A273A|SIRPB2_ENST00000444444.1_Silent_p.A175A Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 0 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGGTGAATTCTGCCTCTTTGG 0.517000 57 91 0 0 0.003610 0 0 KRT31 3881 broad.mit.edu 37 17 39551865 39551865 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:39551865G>T ENST00000251645.2 - 4 651 c.599C>A c.(598-600)aCc>aAc p.T200N NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 200 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GCAGCGCAGGGTATTGACCTC 0.493000 28 12 2.12542e-12 2.98991e-12 0.006320 1 0 UNC79 57578 broad.mit.edu 37 14 94008975 94008975 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:94008975C>A ENST00000553484.1 + 14 1842 c.1688C>A c.(1687-1689)aCc>aAc p.T563N UNC79_ENST00000393151.2_Missense_Mutation_p.T563N|UNC79_ENST00000256339.4_Missense_Mutation_p.T386N|UNC79_ENST00000555664.1_Missense_Mutation_p.T563N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 563 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGGCTGAAGACCGTATGTGAT 0.478000 70 55 5.88917e-42 1.14669e-41 0.003610 1 0 MCC 4163 broad.mit.edu 37 5 112676326 112676326 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:112676326C>A ENST00000408903.3 - 3 932 c.517G>T c.(517-519)Gag>Tag p.E173* CTD-2201G3.1_ENST00000416046.2_RNA NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 0 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCGCCATACTCGAGCAGCTTC 0.577000 13 18 7.03913e-09 8.98368e-09 0.001368 1 0 OR4N5 390437 broad.mit.edu 37 14 20612261 20612261 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:20612261T>A ENST00000333629.1 + 1 367 c.367T>A c.(367-369)Tac>Aac p.Y123N NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 123 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) CTTTGACCGCTACATCGCCAT 0.483000 43 74 0 0 0.007835 0 0 OR2W5 441932 broad.mit.edu 37 1 247654765 247654765 + RNA SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:247654765C>G ENST00000522351.1 + 0 396 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 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;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCACCGAGTGCGTCCTCCTGG 0.602000 26 56 0 0 0.005443 0 0 HERC1 8925 broad.mit.edu 37 15 63990931 63990931 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:63990931G>T ENST00000443617.2 - 26 4988 c.4901C>A c.(4900-4902)gCa>gAa p.A1634E RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1634 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACTTACTTCTGCCCTTAACTG 0.423000 3 21 0.00024832 0.000269641 0.009096 1 0 PM20D2 135293 broad.mit.edu 37 6 89868113 89868113 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:89868113A>G ENST00000275072.4 + 5 1077 c.982A>G c.(982-984)Atg>Gtg p.M328V NM_001010853.1 NP_001010853.1 Q8IYS1 P20D2_HUMAN peptidase M20 domain containing 2 328 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1) 12 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) GAAAGCCTATATGGAAAATGG 0.308000 35 7 0 0 0.004289 0 0 SPAM1 6677 broad.mit.edu 37 7 123593726 123593726 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:123593726G>T ENST00000340011.5 + 3 459 c.102G>T c.(100-102)ttG>ttT p.L34F SPAM1_ENST00000223028.7_Missense_Mutation_p.L34F|SPAM1_ENST00000402183.2_Missense_Mutation_p.L34F|SPAM1_ENST00000439500.1_Missense_Mutation_p.L34F|SPAM1_ENST00000460182.1_Missense_Mutation_p.L34F NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 34 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) CATGTTGCTTGACTCTGAATT 0.418000 7 30 5.4927e-09 7.02438e-09 0.004482 1 0 GSG1L 146395 broad.mit.edu 37 16 27818864 27818864 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:27818864C>G ENST00000380898.2 - 7 980 c.431G>C c.(430-432)aGg>aCg p.R144T GSG1L_ENST00000569166.1_Missense_Mutation_p.R144T|GSG1L_ENST00000395724.3_Missense_Mutation_p.R230T|GSG1L_ENST00000447459.2_Missense_Mutation_p.R281T|GSG1L_ENST00000380897.3_Missense_Mutation_p.R126T Q6UXU4 GSG1L_HUMAN GSG1-like 281 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 GCTCCCGTCCCTCTTCTCCAT 0.483000 15 16 0 0 0.002450 0 0 BNC1 646 broad.mit.edu 37 15 83932172 83932172 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:83932172G>C ENST00000345382.2 - 4 1916 c.1831C>G c.(1831-1833)Cgt>Ggt p.R611G RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R604G NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 611 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R611C(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 ACTGATTCACGATGGCAGGGC 0.547000 48 25 0 0 0.013114 0 0 BAI1 575 broad.mit.edu 37 8 143620762 143620762 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:143620762G>T ENST00000517894.1 + 27 4588 c.3694G>T c.(3694-3696)Gcc>Tcc p.A1232S BAI1_ENST00000323289.5_Missense_Mutation_p.A1232S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1232 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGTGGATCTGGCCTGTAGATC 0.667000 14 6 2.48551e-13 3.56047e-13 0.004990 1 0 MYOC 4653 broad.mit.edu 37 1 171621499 171621499 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:171621499G>T ENST00000037502.5 - 1 312 c.253C>A c.(253-255)Ctg>Atg p.L85M NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 85 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GTGGCCTCCAGGTCTAAGCGT 0.602000 22 50 0.00229938 0.00243144 0.002299 1 0 EYS 346007 broad.mit.edu 37 6 66205227 66205227 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:66205227C>T ENST00000503581.1 - 4 614 c.77G>A c.(76-78)cGg>cAg p.R26Q EYS_ENST00000370621.3_Missense_Mutation_p.R26Q|EYS_ENST00000342421.5_Missense_Mutation_p.R26Q|EYS_ENST00000393380.2_Missense_Mutation_p.R26Q|EYS_ENST00000370616.2_Missense_Mutation_p.R26Q|EYS_ENST00000370618.3_Missense_Mutation_p.R26Q NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 26 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CACCAATTGCCGTCTACATGT 0.398000 30 5 0 0 0.007291 0 0 UNC5D 137970 broad.mit.edu 37 8 35579785 35579785 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:35579785C>A ENST00000287272.2 + 8 1027 c.1007C>A c.(1006-1008)gCc>gAc p.A336D UNC5D_ENST00000453357.2_Missense_Mutation_p.A387D|UNC5D_ENST00000420357.1_Missense_Mutation_p.A325D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A397D|UNC5D_ENST00000404895.2_Missense_Mutation_p.A392D Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 392 TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCCGTCGTGGCCGTTGCAGTC 0.532000 57 96 1.08141e-31 2.02683e-31 0.003610 1 0 LMBRD1 55788 broad.mit.edu 37 6 70462161 70462161 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:70462161C>G ENST00000370577.3 - 4 624 c.395G>C c.(394-396)aGt>aCt p.S132T LMBRD1_ENST00000370570.1_Missense_Mutation_p.S59T NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 132 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 AGTACATTTACTAGTATCATC 0.294000 9 7 0 0 0.004482 0 0 CCDC27 148870 broad.mit.edu 37 1 3669272 3669272 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:3669272G>T ENST00000294600.2 + 1 311 c.227G>T c.(226-228)cGg>cTg p.R76L NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 76 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ATGGCCAGCCGGGACGCCCGG 0.622000 18 61 8.34094e-07 1.00509e-06 0.008871 1 0 TMEM132D 121256 broad.mit.edu 37 12 129694181 129694181 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:129694181G>T ENST00000422113.2 - 5 1653 c.1327C>A c.(1327-1329)Ctc>Atc p.L443I RP11-669N7.3_ENST00000542578.1_lincRNA NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 443 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTCCCCGTGAGGATGGCTGTG 0.602000 12 59 4.36969e-10 5.75274e-10 0.001855 1 0 MUC17 140453 broad.mit.edu 37 7 100674437 100674437 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:100674437G>C ENST00000306151.4 + 2 183 c.119G>C c.(118-120)gGg>gCg p.G40A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 40 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GATGGAGGAGGGTGCATCTCC 0.522000 20 96 0 0 0.002299 0 0 TNNI3 7137 broad.mit.edu 37 19 55666188 55666188 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:55666188C>G ENST00000344887.5 - 6 435 c.293G>C c.(292-294)cGa>cCa p.R98P CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR|TNNI3_ENST00000588882.1_Missense_Mutation_p.R73P NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) 98 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GTGGAGCTGTCGGCACAAGTC 0.587000 23 10 0 0 0.003330 0 0 PAK7 57144 broad.mit.edu 37 20 9546657 9546657 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:9546657G>T ENST00000378429.3 - 6 1911 c.1365C>A c.(1363-1365)atC>atA p.I455I PAK7_ENST00000378423.1_Silent_p.I455I|PAK7_ENST00000353224.5_Silent_p.I455I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 455 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGCCTTCCCCGATTTTGATAA 0.562000 63 98 1.85257e-25 3.3182e-25 0.003610 1 0 COL3A1 1281 broad.mit.edu 37 2 189850439 189850439 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:189850439C>T ENST00000304636.3 + 4 552 c.382C>T c.(382-384)Caa>Taa p.Q128* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q128* NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 128 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TATTCCAGGACAACCAGGGTC 0.443000 16 29 0 0 0.007413 0 0 DDHD1 80821 broad.mit.edu 37 14 53525260 53525260 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:53525260C>A ENST00000357758.3 - 9 2110 c.1927G>T c.(1927-1929)Gac>Tac p.D643Y DDHD1_ENST00000323669.5_Missense_Mutation_p.D643Y|DDHD1_ENST00000395606.1_Missense_Mutation_p.D650Y NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 643 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AAAATATGGTCTTGACTTCCA 0.393000 14 27 1.49906e-05 1.70931e-05 0.002450 1 0 LRP1B 53353 broad.mit.edu 37 2 141819818 141819818 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:141819818C>G ENST00000389484.3 - 8 2009 c.1038G>C c.(1036-1038)ggG>ggC p.G346G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 346 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) TGGCGACATTCCCGTAGTCAG 0.448000 TSP Lung(27;0.18) 10 51 0 0 0.008291 0 0 PAX5 5079 broad.mit.edu 37 9 36882061 36882061 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:36882061G>T ENST00000358127.4 - 8 1026 c.952C>A c.(952-954)Cac>Aac p.H318N PAX5_ENST00000522003.1_Missense_Mutation_p.H210N|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.H275N|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.H275N|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.H318N|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Intron NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 318 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGGGGGACGTGTGGAGGGTAC 0.637000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 9 20 2.27111e-07 2.79041e-07 0.001368 1 0 ANO7 50636 broad.mit.edu 37 2 242144350 242144350 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:242144350G>T ENST00000274979.8 + 10 1225 c.1122G>T c.(1120-1122)ctG>ctT p.L374L ANO7_ENST00000402430.3_Silent_p.L373L NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 374 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GCTGCTTCCTGGTGTTCTCAG 0.642000 22 58 4.26978e-12 5.92e-12 0.003330 1 0 ANKK1 255239 broad.mit.edu 37 11 113269850 113269850 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:113269850G>T ENST00000303941.3 + 8 1253 c.1159G>T c.(1159-1161)Gac>Tac p.D387Y NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 387 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CCACGAGGTAGACGTGGACTG 0.617000 3 8 0.004672 0.00490305 0.004672 1 0 ST18 9705 broad.mit.edu 37 8 53085144 53085144 + Splice_Site SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:53085144C>G ENST00000276480.7 - 10 961 c.e10-1 NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 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) ATGATTTCCTCTATGGAAAAA 0.308000 23 9 0 0 0.002780 0 0 SAG 6295 broad.mit.edu 37 2 234224723 234224723 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:234224723G>T ENST00000409110.1 + 3 308 c.78G>T c.(76-78)gtG>gtT p.V26V NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 26 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TCTTGCAGGTGACCATCTACC 0.507000 3 6 2.56e-06 3.02655e-06 0.009096 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686543 125686543 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:125686543C>A ENST00000371126.1 - 1 291 c.49G>T c.(49-51)Gag>Tag p.E17* NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 17 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCGTCCGCCTCGACCGCGGGC 0.726000 37 12 2.6416e-12 3.70356e-12 0.006230 1 0 RASSF2 9770 broad.mit.edu 37 20 4768349 4768349 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:4768349T>G ENST00000379400.3 - 10 938 c.743A>C c.(742-744)cAg>cCg p.Q248P RASSF2_ENST00000478553.1_Splice_Site|RASSF2_ENST00000379376.2_Missense_Mutation_p.Q248P NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 248 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 ACATGGGCCCTGGAGGATTCG 0.552000 29 32 0 0 0.006320 0 0 VWA3A 146177 broad.mit.edu 37 16 22144393 22144393 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:22144393G>A ENST00000389398.5 + 20 2141 c.2045G>A c.(2044-2046)cGc>cAc p.R682H VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 682 VWFA 1. extracellular region p.R682H(2) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GCAGGTGGCCGCTTCCACTGG 0.582000 5 22 0 0 0.000602 0 0 OR51I2 390064 broad.mit.edu 37 11 5474973 5474973 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:5474973C>T ENST00000341449.2 + 1 336 c.255C>T c.(253-255)ttC>ttT p.F85F HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCGAACCTTCTGCCTCAATG 0.488000 23 52 0 0 0.003954 0 0 C6 729 broad.mit.edu 37 5 41181494 41181494 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:41181494G>A ENST00000263413.3 - 7 1158 c.894C>T c.(892-894)gcC>gcT p.A298A C6_ENST00000337836.5_Silent_p.A298A|C6_ENST00000475349.1_5'UTR NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 298 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.A298A(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) CTTGTTTGAAGGCAGAATTAT 0.353000 14 96 0 0 0.003163 0 0 KCNH7 90134 broad.mit.edu 37 2 163256746 163256746 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:163256746C>A ENST00000332142.5 - 10 2459 c.2360G>T c.(2359-2361)aGa>aTa p.R787I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 787 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) AATGGAGCCTCTGGATAAGAA 0.443000 21 54 1.00905e-13 1.47069e-13 0.008871 1 0 AKAP1 8165 broad.mit.edu 37 17 55183864 55183864 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:55183864G>C ENST00000337714.3 + 2 1272 c.1039G>C c.(1039-1041)Gct>Cct p.A347P AKAP1_ENST00000572557.1_Missense_Mutation_p.A347P|AKAP1_ENST00000571629.1_Missense_Mutation_p.A347P|AKAP1_ENST00000314126.3_Missense_Mutation_p.A347P|AKAP1_ENST00000539273.1_Missense_Mutation_p.A347P NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 347 PKA-RII subunit binding domain. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GATTAAGCGGGCTGCCTTCCA 0.517000 44 42 0 0 0.003610 0 0 TRIM27 5987 broad.mit.edu 37 6 28872321 28872321 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:28872321C>A ENST00000377199.3 - 8 1424 c.1068G>T c.(1066-1068)ctG>ctT p.L356L TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 356 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CACAGGGAAACAGATTGAACC 0.542000 T RET papillary thyroid 37 4 2.42023e-17 3.86496e-17 0.003271 1 0 UBAP2L 9898 broad.mit.edu 37 1 154209593 154209593 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:154209593T>G ENST00000428931.1 + 8 851 c.684T>G c.(682-684)ttT>ttG p.F228L UBAP2L_ENST00000361546.2_Missense_Mutation_p.F228L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.F228L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.F239L NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 228 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGGCCACTTTGAACCAGATG 0.403000 27 55 0 0 0.005443 0 0 IQUB 154865 broad.mit.edu 37 7 123143031 123143031 + Silent SNP G G A rs143722337 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:123143031G>A ENST00000466202.1 - 5 1410 c.834C>T c.(832-834)ccC>ccT p.P278P IQUB_ENST00000434450.1_Silent_p.P278P|IQUB_ENST00000324698.6_Silent_p.P278P|IQUB_ENST00000488987.1_5'UTR Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 278 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGAGTCTTTCGGGAATCCTTT 0.353000 14 54 0 0 0.001855 0 0 IFIT5 24138 broad.mit.edu 37 10 91177355 91177355 + Nonsense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:91177355C>G ENST00000371795.4 + 2 612 c.399C>G c.(397-399)taC>taG p.Y133* IFIT5_ENST00000416601.1_Nonsense_Mutation_p.Y133* NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 133 binding endometrium(1)|large_intestine(4)|lung(4) 9 CTTCTAACTACAAGTTGGAGT 0.433000 13 29 0 0 0.001368 0 0 CD276 80381 broad.mit.edu 37 15 73996311 73996311 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:73996311A>T ENST00000318443.5 + 5 1347 c.1045A>T c.(1045-1047)Agc>Tgc p.S349C CD276_ENST00000537340.2_Missense_Mutation_p.S203C|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.S349C NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 349 Ig-like V-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 GGATTTCGGCAGCGCTGCCGT 0.667000 8 15 0 0 0.004482 0 0 BATF2 116071 broad.mit.edu 37 11 64756724 64756724 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:64756724A>T ENST00000301887.4 - 3 832 c.702T>A c.(700-702)cgT>cgA p.R234R BATF2_ENST00000435842.2_Silent_p.R149R|BATF2_ENST00000527716.1_Silent_p.R210R NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 234 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 TGCTCTGCAGACGTGCAAGCC 0.637000 23 28 0 0 0.003330 0 0 LRRK2 120892 broad.mit.edu 37 12 40672061 40672061 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:40672061C>T ENST00000298910.7 + 18 2297 c.2239C>T c.(2239-2241)Cag>Tag p.Q747* LRRK2_ENST00000343742.2_Nonsense_Mutation_p.Q747* NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 747 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTAATTTGTCAGGTAAATAT 0.378000 107 10 0 0 0.003610 0 0 LAMB4 22798 broad.mit.edu 37 7 107706881 107706881 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:107706881G>T ENST00000388781.3 - 20 2694 c.2611C>A c.(2611-2613)Ctt>Att p.L871I LAMB4_ENST00000205386.4_Missense_Mutation_p.L871I|LAMB4_ENST00000388780.3_Missense_Mutation_p.L871I NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 871 Laminin EGF-like 8. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGATCACAAAGTTCAGCAAAC 0.488000 7 54 5.18039e-06 6.04459e-06 0.003080 1 0 KCNH1 3756 broad.mit.edu 37 1 211192569 211192569 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:211192569G>T ENST00000367007.4 - 6 757 c.588C>A c.(586-588)ccC>ccA p.P196P KCNH1_ENST00000271751.4_Silent_p.P196P NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 196 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCTTGTACTGGGGAAGGATGT 0.433000 21 14 2.37509e-13 3.41402e-13 0.010504 1 0 RTP2 344892 broad.mit.edu 37 3 187416724 187416724 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:187416724G>T ENST00000358241.1 - 2 668 c.240C>A c.(238-240)cgC>cgA p.R80R NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 80 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CCCGCTGGGCGCGGTCCAGGA 0.657000 15 17 0.000219431 0.000239519 0.002450 1 0 MYH15 22989 broad.mit.edu 37 3 108182078 108182078 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:108182078T>C ENST00000273353.3 - 17 1860 c.1804A>G c.(1804-1806)Atc>Gtc p.I602V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 602 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CAACCACTGATATTATAAGGT 0.373000 51 99 0 0 0.003610 0 0 PLXNA4 91584 broad.mit.edu 37 7 131865396 131865396 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:131865396A>T ENST00000359827.3 - 19 4550 c.3588T>A c.(3586-3588)gaT>gaA p.D1196E PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1196E Q9HCM2 PLXA4_HUMAN plexin A4 1196 IPT/TIG 4. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCAGCTGGACATCTGACACGG 0.607000 6 32 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179434970 179434970 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179434970C>A ENST00000589042.1 - 326 76113 c.75889G>T c.(75889-75891)Gtt>Ttt p.V25297F TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16357F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22729F|TTN_ENST00000342175.6_Missense_Mutation_p.V16424F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16232F|TTN_ENST00000591111.1_Missense_Mutation_p.V23656F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23656 Ig-like 124. 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) TTCTTGGCAACTACTGGCTCA 0.418000 13 53 5.50884e-06 6.38617e-06 0.001368 1 0 PRDM10 56980 broad.mit.edu 37 11 129814700 129814700 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:129814700C>G ENST00000358825.5 - 6 959 c.728G>C c.(727-729)gGc>gCc p.G243A PRDM10_ENST00000360871.3_Missense_Mutation_p.G243A|PRDM10_ENST00000304538.6_Missense_Mutation_p.G157A|PRDM10_ENST00000526082.1_Missense_Mutation_p.G157A|PRDM10_ENST00000423662.2_Missense_Mutation_p.G157A|PRDM10_ENST00000528746.1_Missense_Mutation_p.G217A NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 243 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CAGCTCCGAGCCCCTGACGAG 0.552000 23 72 0 0 0.002299 0 0 ZNF728 388523 broad.mit.edu 37 19 23159821 23159821 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:23159821A>T ENST00000594710.1 - 4 463 c.318T>A c.(316-318)tgT>tgA p.C106* NM_001267716.1 NP_001254645.1 zinc finger protein 728 TCTCATGTCCACATTTTTCAT 0.348000 20 20 0 0 0.007413 0 0 BDKRB2 624 broad.mit.edu 37 14 96707718 96707718 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:96707718C>T ENST00000542454.2 + 3 4060 c.972C>T c.(970-972)tgC>tgT p.C324C BDKRB2_ENST00000539359.1_Silent_p.C324C|BDKRB2_ENST00000306005.3_Silent_p.C351C|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.C351C P30411 BKRB2_HUMAN bradykinin receptor B2 351 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) AGGGAGTGTGCCAGAAAGGGG 0.572000 3 33 0 0 0.001168 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499602 59499602 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:59499602C>A ENST00000307144.4 + 1 561 c.463C>A c.(463-465)Cgc>Agc p.R155S MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 155 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GGGAGAAACGCGCCTTAATTT 0.418000 61 39 2.30037e-20 3.8555e-20 0.003610 1 0 SYT16 83851 broad.mit.edu 37 14 62547902 62547902 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:62547902G>A ENST00000430451.2 + 4 1541 c.1344G>A c.(1342-1344)atG>atA p.M448I NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 448 C2 1. 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) GAGAGAGAATGATGGGAGAGA 0.532000 7 20 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 142004822 142004822 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:142004822C>G ENST00000389484.3 - 5 1536 c.565G>C c.(565-567)Gac>Cac p.D189H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 189 EGF-like 2; calcium-binding (Potential). 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) GATCTGTTGTCTGGCTGCATT 0.383000 TSP Lung(27;0.18) 13 53 0 0 0.001368 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296872 28296872 + Missense_Mutation SNP C C A rs147165669 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:28296872C>A ENST00000284987.5 - 8 2414 c.2293G>T c.(2293-2295)Gcc>Tcc p.A765S AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 765 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGGTCTTTGGCTTTGAACTGT 0.443000 59 18 4.33383e-22 7.46349e-22 0.003610 1 0 GATA4 2626 broad.mit.edu 37 8 11607676 11607676 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:11607676G>C ENST00000335135.4 + 4 1398 c.840G>C c.(838-840)acG>acC p.T280T GATA4_ENST00000532059.1_Silent_p.T281T|GATA4_ENST00000528712.1_Silent_p.T74T NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 280 Poly-Thr. atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CCACCACCACGCTGTGGCGCC 0.622000 24 10 0 0 0.004656 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869448 36869448 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:36869448G>T ENST00000279024.4 - 3 1356 c.1085C>A c.(1084-1086)aCc>aAc p.T362N NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 362 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TGAGTTGTGGGTGGGTGCTTT 0.542000 96 91 1.15966e-41 2.25099e-41 0.003610 1 0 UMOD 7369 broad.mit.edu 37 16 20348729 20348729 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:20348729C>A ENST00000396134.2 - 9 1846 c.1723G>T c.(1723-1725)Gag>Tag p.E575* UMOD_ENST00000396142.2_Nonsense_Mutation_p.E542*|UMOD_ENST00000302509.4_Nonsense_Mutation_p.E542*|UMOD_ENST00000570689.1_Nonsense_Mutation_p.E542*|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Nonsense_Mutation_p.E575*|UMOD_ENST00000396138.4_Nonsense_Mutation_p.E591* NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 542 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TGGGAGGACTCCCCATTCTCC 0.473000 18 40 1.56452e-12 2.20832e-12 0.007413 1 0 CSMD3 114788 broad.mit.edu 37 8 113347650 113347650 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:113347650G>T ENST00000297405.5 - 45 7317 c.7073C>A c.(7072-7074)gCt>gAt p.A2358D CSMD3_ENST00000352409.3_Missense_Mutation_p.A2288D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A2254D|CSMD3_ENST00000343508.3_Missense_Mutation_p.A2318D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2358 CUB 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGATTCCAAAGCGGTATTGCC 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 65 3.07112e-06 3.60698e-06 0.010729 1 0 PHLDB3 653583 broad.mit.edu 37 19 43979578 43979578 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:43979578T>C ENST00000292140.5 - 16 2267 c.1907A>G c.(1906-1908)gAa>gGa p.E636G NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 636 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) GGCGTGGTTTTCGTCAGCGGC 0.672000 6 17 0 0 0.003080 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33870350 33870350 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:33870350G>T ENST00000307296.3 + 7 1100 c.723G>T c.(721-723)gtG>gtT p.V241V PDCD6IP_ENST00000457054.2_Silent_p.V246V Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 241 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCCAGGAGGTGTTCCCTGTCT 0.448000 26 16 2.44723e-14 3.63456e-14 0.004656 1 0 ADCY2 108 broad.mit.edu 37 5 7784549 7784549 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:7784549T>C ENST00000338316.4 + 19 2545 c.2456T>C c.(2455-2457)gTt>gCt p.V819A ADCY2_ENST00000537121.1_Missense_Mutation_p.V639A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 819 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACACTGCTTGTTCTGGGTAGA 0.378000 51 88 0 0 0.003610 0 0 CPS1 1373 broad.mit.edu 37 2 211502454 211502454 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:211502454A>T ENST00000233072.5 + 22 2912 c.2716A>T c.(2716-2718)Agg>Tgg p.R906W CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.R455W|CPS1_ENST00000430249.2_Missense_Mutation_p.R912W NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 906 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) AACCCTGAAAAGGGCAAAGGA 0.413000 14 29 0 0 0.003163 0 0 CDK4 1019 broad.mit.edu 37 12 58145434 58145434 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:58145434C>A ENST00000257904.6 - 2 432 c.67G>T c.(67-69)Gcc>Tcc p.A23S CDK4_ENST00000549606.1_Intron|CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.A23S NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 23 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GGATCACGGGCCTTGTACACT 0.552000 Mis melanoma Hereditary Melanoma 32 50 6.50621e-10 8.52961e-10 0.002836 1 0 TMPRSS6 164656 broad.mit.edu 37 22 37485704 37485704 + Silent SNP G G T rs148065950 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:37485704G>T ENST00000381792.2 - 7 890 c.750C>A c.(748-750)ctC>ctA p.L250L TMPRSS6_ENST00000406725.1_Silent_p.L250L|TMPRSS6_ENST00000406856.1_Silent_p.L250L|TMPRSS6_ENST00000346753.3_Silent_p.L259L|TMPRSS6_ENST00000442782.2_Silent_p.L259L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 259 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 ACTCCAGCCGGAGTTTGAGCA 0.677000 15 4 9.16793e-09 1.1653e-08 0.004990 1 0 BAG6 7917 broad.mit.edu 37 6 31617043 31617043 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:31617043C>A ENST00000404765.2 - 4 645 c.356G>T c.(355-357)gGg>gTg p.G119V BAG6_ENST00000375964.6_Missense_Mutation_p.G119V|BAG6_ENST00000375976.4_Missense_Mutation_p.G119V|BAG6_ENST00000439687.2_Missense_Mutation_p.G119V|BAG6_ENST00000211379.5_Missense_Mutation_p.G119V|BAG6_ENST00000362049.6_Missense_Mutation_p.G119V P46379 BAG6_HUMAN BCL2-associated athanogene 6 119 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GGCCCCAGGCCCCCGAGTACC 0.587000 99 12 2.35538e-29 4.34947e-29 0.003610 1 0 PROSC 11212 broad.mit.edu 37 8 37632908 37632908 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:37632908A>T ENST00000328195.3 + 6 573 c.506A>T c.(505-507)aAc>aTc p.N169I NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 169 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) GAGCACATAAACGCCAAGTGT 0.478000 95 30 0 0 0.003610 0 0 TRAT1 50852 broad.mit.edu 37 3 108572490 108572490 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:108572490C>A ENST00000295756.6 + 6 557 c.327C>A c.(325-327)tgC>tgA p.C109* TRAT1_ENST00000426646.1_Nonsense_Mutation_p.C72* NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 109 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 CACAGATGTGCTACGCCTCAC 0.413000 18 83 1.00905e-13 1.47069e-13 0.008871 1 0 XIST 7503 broad.mit.edu 37 X 73071574 73071574 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:73071574C>A ENST00000429829.1 - 0 1014 NR_001564.2 TCTGCCTGACCTGCTATCATC 0.473000 31 9 3.80469e-20 6.34285e-20 0.009535 1 0 IWS1 55677 broad.mit.edu 37 2 128262644 128262644 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:128262644C>G ENST00000295321.4 - 3 1094 c.835G>C c.(835-837)Gag>Cag p.E279Q IWS1_ENST00000455721.2_Missense_Mutation_p.E286Q|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 279 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GGGGGATCCTCACTTTCCGAA 0.552000 88 105 0 0 0.003610 0 0 MEGF10 84466 broad.mit.edu 37 5 126781278 126781278 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:126781278C>A ENST00000274473.6 + 21 2888 c.2621C>A c.(2620-2622)gCa>gAa p.A874E MEGF10_ENST00000503335.2_Missense_Mutation_p.A874E|MEGF10_ENST00000510828.1_Intron NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 874 cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TTCCTACTGGCATTGTTCATT 0.473000 27 12 3.28513e-13 4.67916e-13 0.003954 1 0 FAM3C 10447 broad.mit.edu 37 7 120991232 120991232 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:120991232C>A ENST00000359943.3 - 9 772 c.559G>T c.(559-561)Ggg>Tgg p.G187W NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 187 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) ATGCCCTTCCCACCACAGAAG 0.418000 16 23 5.03518e-11 6.78584e-11 0.007413 1 0 IL16 3603 broad.mit.edu 37 15 81592382 81592382 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:81592382C>A ENST00000394660.2 + 14 3075 c.2715C>A c.(2713-2715)tcC>tcA p.S905S IL16_ENST00000302987.4_Silent_p.S905S|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_Silent_p.S204S NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 905 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 AAGTACTGTCCTCGGGGTCCC 0.642000 31 54 7.01153e-11 9.39876e-11 0.007291 1 0 TTN 7273 broad.mit.edu 37 2 179606386 179606386 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179606386C>A ENST00000589042.1 - 48 11798 c.11574G>T c.(11572-11574)gtG>gtT p.V3858V TTN_ENST00000359218.5_Silent_p.V3620V|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Silent_p.V3687V|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.V3495V|TTN_ENST00000591111.1_Silent_p.V3541V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3541 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) GGGTTAATAGCACTCCATTAA 0.413000 13 85 4.93089e-13 7.01531e-13 0.002450 1 0 OR4K2 390431 broad.mit.edu 37 14 20344870 20344870 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:20344870C>A ENST00000298642.2 + 1 480 c.444C>A c.(442-444)tcC>tcA p.S148S NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 148 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) TGGTGGCTTCCTGGATTATGG 0.468000 38 84 9.8876e-21 1.66612e-20 0.004878 1 0 SETBP1 26040 broad.mit.edu 37 18 42531800 42531800 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:42531800C>T ENST00000282030.5 + 4 2791 c.2495C>T c.(2494-2496)cCc>cTc p.P832L NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 832 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) CTGTCTCCACCCAGACTGATG 0.517000 Schinzel-Giedion syndrome 26 44 0 0 0.003954 0 0 NOV 4856 broad.mit.edu 37 8 120430298 120430298 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:120430298C>A ENST00000259526.3 + 3 538 c.310_splice c.e3-1 p.A104_splice NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 104 IGFBP N-terminal. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATATTCTAGCGGTAGAGGGA 0.458000 103 53 3.27315e-48 6.41312e-48 0.003610 1 0 C8orf34 116328 broad.mit.edu 37 8 69434070 69434070 + Missense_Mutation SNP C C T rs138458632 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:69434070C>T ENST00000337103.4 + 5 2061 c.469C>T c.(469-471)Cgt>Tgt p.R157C C8orf34_ENST00000518698.1_Missense_Mutation_p.R268C|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182C|C8orf34_ENST00000348340.2_Missense_Mutation_p.R182C Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 182 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TCTGAGGCCCCGTGTGATTGG 0.408000 9 77 0 0 0.004482 0 0 APBA2 321 broad.mit.edu 37 15 29385416 29385416 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:29385416G>C ENST00000558402.1 + 8 1807 c.1208G>C c.(1207-1209)cGg>cCg p.R403P APBA2_ENST00000558259.1_Missense_Mutation_p.R403P|APBA2_ENST00000558330.1_Missense_Mutation_p.R403P|APBA2_ENST00000561069.1_Missense_Mutation_p.R403P|APBA2_ENST00000411764.1_Missense_Mutation_p.R403P Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 403 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GCCGTCAGCCGGGTCAAGGTA 0.597000 4 37 0 0 0.009096 0 0 LOC647264 647264 broad.mit.edu 37 13 64321049 64321049 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:64321049G>T ENST00000453638.2 + 1 116 c.116G>T c.(115-117)gGc>gTc p.G39V endometrium(2)|lung(1)|urinary_tract(1) 4 tatggaactggctacagctgt 0.552000 9 46 0.000274275 0.000296796 0.004482 1 0 METAP1D 254042 broad.mit.edu 37 2 172942622 172942622 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:172942622G>T ENST00000315796.4 + 7 1189 c.802_splice c.e7+1 p.A268_splice METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 268 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TTGGCATCATGGTAAGAAAGT 0.408000 20 26 2.32416e-17 3.72579e-17 0.002299 1 0 AKAP10 11216 broad.mit.edu 37 17 19827722 19827722 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:19827722C>T ENST00000225737.6 - 11 1907 c.1751_splice c.e11+1 p.G584_splice AKAP10_ENST00000395536.3_Splice_Site_p.G526_splice NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 584 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TAAGCTTACCCGGCATATGTC 0.289000 5 17 0 0 0.000602 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763592 77763592 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:77763592G>T ENST00000521891.2 + 10 4883 c.4435G>T c.(4435-4437)Gat>Tat p.D1479Y ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1453Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1434Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1434Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1434 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) TATGTCCCAGGATGACCATGG 0.507000 HNSCC(33;0.089) 50 20 3.39706e-21 5.77085e-21 0.003610 1 0 NPAP1 23742 broad.mit.edu 37 15 24924112 24924112 + Nonsense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:24924112C>G ENST00000329468.2 + 1 3572 c.3098C>G c.(3097-3099)tCa>tGa p.S1033* NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGTTCCACATCAGGAGAACTC 0.547000 15 30 0 0 0.003163 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692726 187692726 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:187692726T>C ENST00000295131.2 - 9 1926 c.1887A>G c.(1885-1887)gaA>gaG p.E629E NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 629 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ATTGAACTCCTTCTATTATTA 0.294000 7 19 0 0 0.003080 0 0 LRP1B 53353 broad.mit.edu 37 2 141243066 141243066 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:141243066C>A ENST00000389484.3 - 59 10242 c.9271G>T c.(9271-9273)Gca>Tca p.A3091S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3091 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) ACAGCAAGTGCATTGGGGACC 0.368000 TSP Lung(27;0.18) 14 28 2.23348e-06 2.64553e-06 0.004007 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90502201 90502201 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:90502201C>A ENST00000325643.5 + 4 2865 c.2799C>A c.(2797-2799)ccC>ccA p.P933P NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TCCAGAGGCCCCCGAGAGGGT 0.622000 25 12 2.48779e-11 3.37822e-11 0.005443 1 0 TTN 7273 broad.mit.edu 37 2 179611185 179611185 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179611185A>T ENST00000360870.5 - 46 16164 c.15942T>A c.(15940-15942)gtT>gtA p.V5314V TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8826 Ig-like 33. 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) CACTTAATTCAACTTCCAGGA 0.393000 17 35 0 0 0.004990 0 0 LRP2 4036 broad.mit.edu 37 2 170038695 170038695 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:170038695G>T ENST00000263816.3 - 51 10265 c.9980C>A c.(9979-9981)gCc>gAc p.A3327D LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3327 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGGGTGAAGGGCAAGTCCTCT 0.507000 18 57 1.99824e-07 2.45997e-07 0.004990 1 0 R3HDML 140902 broad.mit.edu 37 20 42979383 42979383 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:42979383G>A ENST00000217043.2 + 5 885 c.713G>A c.(712-714)aGc>aAc p.S238N RP5-881L22.5_ENST00000438702.1_RNA|RP5-881L22.5_ENST00000430481.1_RNA NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 238 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) AGCTGCAATAGCAACATGTGC 0.552000 31 74 0 0 0.012213 0 0 NRXN1 9378 broad.mit.edu 37 2 50699460 50699460 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:50699460C>A ENST00000404971.1 - 17 4679 c.3340G>T c.(3340-3342)Gga>Tga p.G1114* NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.G83*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G1074* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1074 EGF-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 p.G1115R(1) 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) TCGATCTGTCCGTTGCAGAAA 0.433000 6 26 0.00116845 0.00124079 0.001168 1 0 SALL3 27164 broad.mit.edu 37 18 76754795 76754795 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:76754795C>A ENST00000536229.3 + 1 3114 c.2405C>A c.(2404-2406)aCc>aAc p.T802N SALL3_ENST00000537592.2_Missense_Mutation_p.T935N|SALL3_ENST00000575389.2_Missense_Mutation_p.T935N Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 969 DDDMDE -> NDNLDK (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGCTCAAGACCGAGAGGCCG 0.741000 8 1 5.18039e-06 6.04459e-06 0.003080 1 0 LSAMP 4045 broad.mit.edu 37 3 115560705 115560705 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:115560705G>T ENST00000490035.1 - 6 1405 c.906C>A c.(904-906)agC>agA p.S302R LSAMP_ENST00000539563.1_Missense_Mutation_p.S299R NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 302 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) AAAGGACTAGGCTGGCATTGG 0.493000 27 63 2.65835e-16 4.17597e-16 0.007291 1 0 MYH7 4625 broad.mit.edu 37 14 23887530 23887530 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:23887530G>T ENST00000355349.3 - 30 4220 c.4058C>A c.(4057-4059)gCc>gAc p.A1353D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1353 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCGGCCTTGGCCTCCGTCTC 0.672000 18 46 1.99824e-07 2.45997e-07 0.004990 1 0 CEP350 9857 broad.mit.edu 37 1 179982981 179982981 + Splice_Site SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:179982981G>C ENST00000367607.3 + 10 1811 c.e10-1 NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ATACTTTGCAGGGGGTCACAT 0.358000 7 44 0 0 0.003080 0 0 ADARB2 105 broad.mit.edu 37 10 1262988 1262988 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:1262988T>G ENST00000381312.1 - 7 1910 c.1585A>C c.(1585-1587)Acg>Ccg p.T529P ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 529 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ACGGGGACCGTCCCTTCCCCG 0.652000 5 2 0 0 0.000602 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672953 113672953 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:113672953A>T ENST00000330212.3 + 3 867 c.568A>T c.(568-570)Aag>Tag p.K190* ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.K184* NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 190 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 CAGAGCCAAGAAGAATCCAGG 0.557000 26 156 0 0 0.004656 0 0 TTN 7273 broad.mit.edu 37 2 179588868 179588868 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179588868G>T ENST00000589042.1 - 73 21342 c.21118C>A c.(21118-21120)Cga>Aga p.R7040R TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.R5796R|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.R6723R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6723 Ig-like 52. 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) GGAACTGCTCGGTCTGTGTGA 0.413000 13 17 1.49906e-05 1.70931e-05 0.002450 1 0 PPAN 56342 broad.mit.edu 37 19 10221814 10221814 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:10221814G>T ENST00000253107.7 + 12 1501 c.1395G>T c.(1393-1395)cgG>cgT p.R465R PPAN_ENST00000393793.1_Silent_p.R412R|PPAN_ENST00000556468.1_Intron|PPAN-P2RY11_ENST00000428358.1_Intron|PPAN-P2RY11_ENST00000393796.4_Intron NM_020230.5 NP_064615.3 peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GCCGGGGCCGGGGCCGCCCAG 0.701000 9 1 7.48243e-07 9.04247e-07 0.006214 1 0 EPRS 2058 broad.mit.edu 37 1 220151953 220151953 + Missense_Mutation SNP G G A rs143796513 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:220151953G>A ENST00000366923.3 - 28 4287 c.4018C>T c.(4018-4020)Cgc>Tgc p.R1340C NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1340 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCTCTAACGCGGATGTTAACA 0.393000 21 15 0 0 0.010504 0 0 IFT43 112752 broad.mit.edu 37 14 76549611 76549611 + Silent SNP G G T rs143729954 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:76549611G>T ENST00000314067.6 + 8 520 c.486G>T c.(484-486)gcG>gcT p.A162A IFT43_ENST00000238628.6_Silent_p.A167A NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 162 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AAGTGCTCGCGCCGGAGCACG 0.582000 5 26 0.000602214 0.000646077 0.000602 1 0 LCLAT1 253558 broad.mit.edu 37 2 30785036 30785036 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:30785036A>T ENST00000309052.4 + 5 712 c.503A>T c.(502-504)tAt>tTt p.Y168F LCLAT1_ENST00000540623.1_Missense_Mutation_p.Y130F|LCLAT1_ENST00000359433.1_Missense_Mutation_p.Y168F|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.Y130F|LCLAT1_ENST00000319406.4_Missense_Mutation_p.Y168F NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 168 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 GCTGCTGCCTATATCTTCATT 0.333000 14 18 0 0 0.002450 0 0 GPD2 2820 broad.mit.edu 37 2 157427724 157427724 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:157427724G>T ENST00000310454.6 + 13 2059 c.1687G>T c.(1687-1689)Gtc>Ttc p.V563F GPD2_ENST00000438166.2_Missense_Mutation_p.V563F|GPD2_ENST00000409125.4_Missense_Mutation_p.V336F|GPD2_ENST00000409674.1_Missense_Mutation_p.V563F|GPD2_ENST00000540309.1_Intron NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 563 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 CTTTCTAAATGTCCAGGCAGC 0.423000 21 75 0.000375601 0.00040609 0.002780 1 0 GATA3 2625 broad.mit.edu 37 10 8100408 8100408 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:8100408G>T ENST00000379328.3 + 3 950 c.382G>T c.(382-384)Ggg>Tgg p.G128W GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.G128W NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 128 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CGGCTCCCCGGGGCCCCTCTC 0.716000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 19 11 8.28177e-16 1.28168e-15 0.007413 1 0 NAV2 89797 broad.mit.edu 37 11 20066722 20066722 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:20066722A>T ENST00000396085.1 + 14 3769 c.3408A>T c.(3406-3408)acA>acT p.T1136T NAV2_ENST00000360655.4_Silent_p.T1072T|NAV2_ENST00000349880.4_Silent_p.T1136T|NAV2_ENST00000540292.1_Silent_p.T1090T|NAV2_ENST00000311043.8_Silent_p.T222T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000527559.2_Silent_p.T1088T|NAV2_ENST00000396087.3_Silent_p.T1159T|NAV2_ENST00000533917.1_Silent_p.T222T NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1159 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCATGATCACAGCCAGCGGGG 0.582000 15 42 0 0 0.004007 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208183 65208183 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:65208183G>T ENST00000247226.7 + 14 2088 c.1780G>T c.(1780-1782)Ggc>Tgc p.G594C PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G650C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G155C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G183C NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 650 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CAGCGAGAAGGGCCTGGCCCG 0.662000 11 42 3.86212e-05 4.32502e-05 0.008291 1 0 ADAD1 132612 broad.mit.edu 37 4 123350835 123350835 + Missense_Mutation SNP C C A rs55924141 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:123350835C>A ENST00000296513.2 + 13 1857 c.1672C>A c.(1672-1674)Caa>Aaa p.Q558K ADAD1_ENST00000388724.2_Missense_Mutation_p.Q547K|ADAD1_ENST00000388725.2_Missense_Mutation_p.Q540K NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 558 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTACTTACAACAACATGGCTA 0.333000 33 6 2.09667e-21 3.5861e-21 0.003755 1 0 HOXD10 3236 broad.mit.edu 37 2 176981685 176981685 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:176981685G>T ENST00000249501.4 + 1 379 c.124G>T c.(124-126)Gac>Tac p.D42Y HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 42 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) ACCTAGCGCAGACATGGGGAC 0.468000 25 97 2.24059e-21 3.81663e-21 0.006320 1 0 ANO4 121601 broad.mit.edu 37 12 101488070 101488070 + Splice_Site SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:101488070G>C ENST00000392979.3 + 17 1994 c.1633_splice c.e17+1 p.E545_splice ANO4_ENST00000299222.9_Splice_Site_p.E100_splice|ANO4_ENST00000392977.3_Splice_Site_p.E580_splice|ANO4_ENST00000550015.1_Splice_Site_p.E100_splice NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 580 chloride channel complex chloride channel activity p.E545*(1) 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 GACGAATTTAGGTGAGTGGAA 0.338000 HNSCC(74;0.22) 14 29 0 0 0.003163 0 0 MEGF10 84466 broad.mit.edu 37 5 126738321 126738321 + Silent SNP G G T rs139531628 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:126738321G>T ENST00000274473.6 + 9 1131 c.864G>T c.(862-864)acG>acT p.T288T MEGF10_ENST00000418761.2_Silent_p.T288T|MEGF10_ENST00000503335.2_Silent_p.T288T|MEGF10_ENST00000508365.1_Silent_p.T288T NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 288 EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATGGAGGGACGTGTGATGCTG 0.502000 28 14 2.12542e-12 2.98991e-12 0.006320 1 0 ZFAT 57623 broad.mit.edu 37 8 135614601 135614601 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:135614601T>G ENST00000520727.1 - 7 1624 c.1325A>C c.(1324-1326)cAc>cCc p.H442P ZFAT_ENST00000429442.2_Missense_Mutation_p.H442P|ZFAT_ENST00000523399.1_Missense_Mutation_p.H392P|ZFAT_ENST00000520214.1_Missense_Mutation_p.H442P|ZFAT_ENST00000377838.3_Missense_Mutation_p.H454P|ZFAT_ENST00000520356.1_Missense_Mutation_p.H442P NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 454 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) CACGAAGGGGTGCTTCCTGAC 0.617000 71 18 0 0 0.003610 0 0 CHERP 10523 broad.mit.edu 37 19 16641581 16641581 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:16641581C>A ENST00000546361.2 - 6 936 c.786_splice c.e6+1 p.R262_splice CHERP_ENST00000198939.6_Splice_Site_p.R273_splice|CTD-3222D19.2_ENST00000409035.1_Intron NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 262 CID. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 CCCACGCACCCGGGCGATCTT 0.692000 24 9 2.70639e-06 3.19661e-06 0.002299 1 0 STK4 6789 broad.mit.edu 37 20 43629116 43629116 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:43629116G>C ENST00000372806.3 + 8 1010 c.915G>C c.(913-915)caG>caC p.Q305H STK4_ENST00000499879.2_Missense_Mutation_p.Q250H|STK4_ENST00000396731.4_Missense_Mutation_p.Q305H|STK4_ENST00000372801.1_Missense_Mutation_p.Q305H NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 305 apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) TGAAACGCCAGGAATCCCAGC 0.463000 3 17 0 0 0.004672 0 0 CEP350 9857 broad.mit.edu 37 1 179982980 179982980 + Splice_Site SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:179982980A>C ENST00000367607.3 + 10 1811 c.e10-1 NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CATACTTTGCAGGGGGTCACA 0.358000 7 44 0 0 0.003080 0 0 KIAA1551 55196 broad.mit.edu 37 12 32138088 32138088 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:32138088G>A ENST00000312561.4 + 4 4613 c.4199G>A c.(4198-4200)aGt>aAt p.S1400N KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CAGAAAGGAAGTGTGGGAGCT 0.348000 25 10 0 0 0.003330 0 0 USP30 84749 broad.mit.edu 37 12 109520514 109520514 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:109520514G>T ENST00000257548.5 + 10 1007 c.914G>T c.(913-915)aGg>aTg p.R305M USP30_ENST00000392784.2_Missense_Mutation_p.R274M NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 305 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 GAACACCAGAGGACCACTTTT 0.458000 7 32 5.4927e-09 7.02438e-09 0.004482 1 0 ENPP1 5167 broad.mit.edu 37 6 132173314 132173314 + Splice_Site SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:132173314G>A ENST00000360971.2 + 5 576 c.e5-1 NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 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) AAATATTTTAGGTGAGAAAAG 0.318000 12 10 0 0 0.001855 0 0 VPS51 738 broad.mit.edu 37 11 64878981 64878981 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:64878981G>A ENST00000279281.3 + 10 2363 c.2271G>A c.(2269-2271)gtG>gtA p.V757V AP003068.9_ENST00000528887.1_RNA|VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) ACGAAGTGGTGGCCTCTGCTG 0.642000 10 33 0 0 0.008291 0 0 ZNF724P 440519 broad.mit.edu 37 19 23414142 23414142 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:23414142T>A ENST00000418100.1 - 3 269 c.152A>T c.(151-153)gAc>gTc p.D51V ZNF724P_ENST00000597037.1_Missense_Mutation_p.D51V endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GGTGATCAGGTCTGGCTTAGA 0.398000 23 117 0 0 0.003330 0 0 MAP3K9 4293 broad.mit.edu 37 14 71205044 71205044 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:71205044C>A ENST00000554752.2 - 8 1761 c.1762G>T c.(1762-1764)Gag>Tag p.E588* MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.E330*|MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.E325* P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 588 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) GCCCTCTTCTCCTCCTCCTCC 0.572000 16 53 8.60227e-14 1.26113e-13 0.004007 1 0 XIRP2 129446 broad.mit.edu 37 2 168100000 168100000 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:168100000C>A ENST00000409195.1 + 9 2187 c.2098C>A c.(2098-2100)Cat>Aat p.H700N XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H700N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H478N|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 525 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 TGAAACTCAACATCTAGATCA 0.383000 9 32 3.09899e-07 3.80385e-07 0.004482 1 0 CSMD3 114788 broad.mit.edu 37 8 113256691 113256691 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:113256691G>T ENST00000297405.5 - 65 10578 c.10334C>A c.(10333-10335)gCa>gAa p.A3445E CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375E|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276E|CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3445 Sushi 28. integral to membrane|plasma membrane p.A3445V(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTTCCACCTGCTAAGAAGAA 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 80 5.91797e-21 1.00397e-20 0.012213 1 0 MRGPRD 116512 broad.mit.edu 37 11 68748244 68748244 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:68748244G>T ENST00000309106.3 - 1 211 c.212C>A c.(211-213)gCc>gAc p.A71D NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 71 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GAGGAGGTCGGCTGCCGCCAG 0.577000 33 35 3.90053e-15 5.91218e-15 0.012213 1 0 VIL1 7429 broad.mit.edu 37 2 219297606 219297606 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:219297606C>A ENST00000248444.5 + 13 1520 c.1432C>A c.(1432-1434)Cgg>Agg p.R478R VIL1_ENST00000392114.2_Silent_p.R167R NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 478 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCCAGATCCGGGTCCCAAT 0.542000 12 34 0.00185496 0.00196481 0.001855 1 0 SLC14A1 6563 broad.mit.edu 37 18 43319536 43319536 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:43319536C>G ENST00000589700.1 + 5 707 c.707C>G c.(706-708)tCt>tGt p.S236C SLC14A1_ENST00000586142.1_Silent_p.L285L|SLC14A1_ENST00000415427.3_Silent_p.L341L|SLC14A1_ENST00000591541.1_5'UTR|SLC14A1_ENST00000502059.2_Silent_p.L177L|SLC14A1_ENST00000402943.2_Silent_p.L180L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000321925.4_Silent_p.L285L|SLC14A1_ENST00000436407.3_Silent_p.L341L|SLC14A1_ENST00000535474.1_Silent_p.L153L|RP11-116O18.3_ENST00000586213.1_RNA Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 0 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 ACTTTGGACTCTGGGGTTTCA 0.527000 37 45 0 0 0.003271 0 0 BCO2 83875 broad.mit.edu 37 11 112071445 112071445 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:112071445G>C ENST00000357685.5 + 7 1110 c.975G>C c.(973-975)tgG>tgC p.W325C BCO2_ENST00000532593.1_Missense_Mutation_p.W220C|BCO2_ENST00000438022.1_Missense_Mutation_p.W291C|BCO2_ENST00000393032.2_Missense_Mutation_p.W291C|BCO2_ENST00000526088.1_Missense_Mutation_p.W291C|BCO2_ENST00000361053.4_Missense_Mutation_p.W252C|BCO2_ENST00000531169.1_Missense_Mutation_p.W291C Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 325 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 GGATAAGCTGGGAACCCCAGT 0.398000 37 32 0 0 0.007835 0 0 CPS1 1373 broad.mit.edu 37 2 211502455 211502455 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:211502455G>T ENST00000233072.5 + 22 2913 c.2717G>T c.(2716-2718)aGg>aTg p.R906M CPS1_ENST00000497121.1_3'UTR|CPS1_ENST00000451903.2_Missense_Mutation_p.R455M|CPS1_ENST00000430249.2_Missense_Mutation_p.R912M NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 906 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) ACCCTGAAAAGGGCAAAGGAG 0.408000 15 29 1.15088e-07 1.42241e-07 0.004007 1 0 SSPO 23145 broad.mit.edu 37 7 149531024 149531024 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:149531024C>A ENST00000378016.2 + 0 15553 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) ACTGGGGGCCCATGACTTGGC 0.582000 6 12 5.9392e-07 7.22632e-07 0.001168 1 0 ZC3H13 23091 broad.mit.edu 37 13 46584576 46584576 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:46584576G>C ENST00000242848.4 - 7 1001 c.653C>G c.(652-654)tCt>tGt p.S218C ZC3H13_ENST00000282007.3_Missense_Mutation_p.S218C|ZC3H13_ENST00000470308.1_5'UTR Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 218 Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCGCTTCGGAGATTTGCTAGA 0.423000 44 6 0 0 0.011902 0 0 SEC24B 10427 broad.mit.edu 37 4 110433128 110433128 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:110433128A>G ENST00000265175.5 + 9 1847 c.1792A>G c.(1792-1794)Aca>Gca p.T598A SEC24B_ENST00000504968.2_Missense_Mutation_p.T628A|SEC24B_ENST00000399100.2_Missense_Mutation_p.T563A NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 598 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ACCAGTGATAACATCAAATAC 0.388000 16 19 0 0 0.004990 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643060 1643060 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:1643060C>T ENST00000399682.1 - 1 308 c.264G>A c.(262-264)aaG>aaA p.K88K NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 88 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACAGCCCCCCTTGGAACCCC 0.672000 27 85 0 0 0.005443 0 0 ADCY2 108 broad.mit.edu 37 5 7802380 7802380 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:7802380T>C ENST00000338316.4 + 21 2767 c.2678T>C c.(2677-2679)aTt>aCt p.I893T ADCY2_ENST00000537121.1_Missense_Mutation_p.I713T NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 893 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTTGCCTCCATTCCGGATTTC 0.468000 14 81 0 0 0.001855 0 0 TDRD7 23424 broad.mit.edu 37 9 100194369 100194369 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:100194369C>A ENST00000355295.4 + 4 707 c.412C>A c.(412-414)Cct>Act p.P138T TDRD7_ENST00000422139.2_Missense_Mutation_p.P64T NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 138 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TGGCAAAAAACCTAATCCAGC 0.388000 27 48 2.44723e-14 3.63456e-14 0.004656 1 0 CLRN2 645104 broad.mit.edu 37 4 17516915 17516915 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:17516915G>T ENST00000511148.2 + 1 128 c.26G>T c.(25-27)tGg>tTg p.W9L NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 9 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 AAAAAGGCGTGGTATGGGCTG 0.537000 7 36 0.000157383 0.000171941 0.003080 1 0 MDM2 4193 broad.mit.edu 37 12 69210673 69210673 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:69210673G>T ENST00000462284.1 + 4 558 c.256G>T c.(256-258)Gat>Tat p.D86Y MDM2_ENST00000428863.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.D55Y|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.D86Y|MDM2_ENST00000258149.5_Missense_Mutation_p.D80Y NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 80 Necessary for interaction with USP2.|SWIB. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TTGTTCAAATGATCTTCTAGG 0.338000 A """sarcoma, glioma, colorectal, other""" 20 22 1.55795e-14 2.32485e-14 0.012319 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433800 73433800 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:73433800C>T ENST00000263666.4 - 10 2031 c.1917G>A c.(1915-1917)ccG>ccA p.P639P PDZRN3_ENST00000462146.2_Silent_p.P296P|PDZRN3_ENST00000466780.1_Silent_p.P296P|PDZRN3_ENST00000535920.1_Silent_p.P361P|PDZRN3_ENST00000479530.1_Silent_p.P356P NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 639 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ACTCGTCCACCGGGATCCCCA 0.657000 50 110 0 0 0.003610 0 0 PELP1 27043 broad.mit.edu 37 17 4594689 4594689 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:4594689T>A ENST00000301396.4 - 2 523 c.298A>T c.(298-300)Agt>Tgt p.S100C PELP1_ENST00000572293.1_Missense_Mutation_p.S150C|PELP1_ENST00000570823.1_5'UTR|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S100C|PELP1_ENST00000574876.1_Missense_Mutation_p.S100C Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 100 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 TTGATGGAACTGAGACGTGCA 0.463000 54 10 0 0 0.003610 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229998 87229998 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:87229998C>A ENST00000297524.3 - 3 983 c.880G>T c.(880-882)Gct>Tct p.A294S SLC7A13_ENST00000419776.2_Missense_Mutation_p.A285S|SLC7A13_ENST00000520624.1_5'UTR NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 294 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 GTAGAAATAGCAAAAGGCATA 0.373000 45 144 1.76056e-25 3.1579e-25 0.011902 1 0 GTF3C1 2975 broad.mit.edu 37 16 27509014 27509014 + Missense_Mutation SNP T T A rs146349254 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:27509014T>A ENST00000356183.4 - 14 2309 c.2294A>T c.(2293-2295)aAa>aTa p.K765I GTF3C1_ENST00000561623.1_Missense_Mutation_p.K765I NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 765 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ATCACTTTTTTTCATCCGTCC 0.443000 16 55 0 0 0.004007 0 0 KEL 3792 broad.mit.edu 37 7 142640966 142640966 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:142640966T>A ENST00000355265.2 - 14 1970 c.1496A>T c.(1495-1497)cAg>cTg p.Q499L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 499 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CGATCCAAGCTGTATCTGGGG 0.542000 12 9 0 0 0.001855 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828077 94828077 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:94828077G>T ENST00000285949.5 + 6 1192 c.1191_splice c.e6-1 p.G398_splice NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 398 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CTCTCTGCAGGGCTACCAGAT 0.632000 14 54 1.5739e-10 2.08963e-10 0.004007 1 0 GOLGA6A 342096 broad.mit.edu 37 15 74368284 74368284 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:74368284G>T ENST00000290438.3 - 8 647 c.607C>A c.(607-609)Cag>Aag p.Q203K NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 203 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 TTTATGGTCTGCTGTAACCAC 0.577000 16 126 0.00400662 0.00422959 0.004007 1 0 MKL2 57496 broad.mit.edu 37 16 14352005 14352005 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:14352005C>A ENST00000571589.1 + 16 2923 c.2751C>A c.(2749-2751)ctC>ctA p.L917L MKL2_ENST00000341243.5_Silent_p.L906L|MKL2_ENST00000318282.5_Silent_p.L867L|MKL2_ENST00000574045.1_Silent_p.L867L NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 906 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 TTGATATCCTCATTAAGAGTG 0.393000 9 25 0.000274275 0.000296796 0.004482 1 0 TMTC2 160335 broad.mit.edu 37 12 83290354 83290354 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:83290354C>T ENST00000549919.1 + 4 3199 c.1394C>T c.(1393-1395)gCg>gTg p.A465V TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V|TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 471 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTCAAGACTGCGATCAGGAAT 0.388000 13 30 0 0 0.001368 0 0 PAX5 5079 broad.mit.edu 37 9 36882063 36882063 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:36882063G>T ENST00000358127.4 - 8 1024 c.950C>A c.(949-951)cCa>cAa p.P317Q PAX5_ENST00000522003.1_Missense_Mutation_p.P209Q|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P274Q|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.P274Q|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P317Q|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000523145.1_Intron NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 317 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGGGACGTGTGGAGGGTACCC 0.637000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 8 21 3.07112e-06 3.60698e-06 0.010729 1 0 MRPS28 28957 broad.mit.edu 37 8 80831369 80831369 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:80831369C>A ENST00000276585.4 - 3 432 c.410G>T c.(409-411)gGa>gTa p.G137V MRPS28_ENST00000521434.1_Missense_Mutation_p.G75V|MRPS28_ENST00000521605.1_Missense_Mutation_p.R76S NM_014018.2 NP_054737.1 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 137 mitochondrial small ribosomal subunit endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) GACCCTGGTTCCTTTCTGGTA 0.353000 70 23 1.15062e-32 2.16628e-32 0.003610 1 0 GMIP 51291 broad.mit.edu 37 19 19745413 19745413 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:19745413G>A ENST00000203556.4 - 18 2124 c.1987C>T c.(1987-1989)Ccc>Tcc p.P663S GMIP_ENST00000445806.2_Missense_Mutation_p.P634S|GMIP_ENST00000587238.1_Missense_Mutation_p.P637S|GMIP_ENST00000586269.1_Intron NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 663 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCAGGGCTGGGGCTGGGGGTC 0.617000 109 38 0 0 0.003610 0 0 TP53BP2 7159 broad.mit.edu 37 1 223985993 223985993 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:223985993C>G ENST00000391878.2 - 13 2253 c.1485G>C c.(1483-1485)gcG>gcC p.A495A TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000343537.7_Silent_p.A624A NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 618 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TTTTTCCTGGCGCCTGCTGTT 0.493000 53 21 0 0 0.003610 0 0 RASGRP2 10235 broad.mit.edu 37 11 64497271 64497271 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:64497271C>A ENST00000377494.1 - 13 2477 c.e13-1 RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site|RASGRP2_ENST00000377497.3_Splice_Site Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGCCCAGGATCTGCAATAGAG 0.517000 20 53 1.56452e-12 2.20832e-12 0.007413 1 0 DSCAM 1826 broad.mit.edu 37 21 41385052 41385052 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:41385052G>A ENST00000400454.1 - 33 6425 c.5948C>T c.(5947-5949)gCt>gTt p.A1983V NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1983 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). 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) GCTCATTTTAGCTGCCTGTCC 0.582000 9 28 0 0 0.004482 0 0 AVPR1A 552 broad.mit.edu 37 12 63543863 63543863 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:63543863C>A ENST00000299178.2 - 1 859 c.754G>T c.(754-756)Gcg>Tcg p.A252S NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 252 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCGCGACGCCGTCTTCCCG 0.622000 51 72 3.93605e-18 6.39992e-18 0.003610 1 0 FGD6 55785 broad.mit.edu 37 12 95498862 95498862 + Splice_Site SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:95498862C>G ENST00000343958.4 - 14 3641 c.3417_splice c.e14-1 p.V1140_splice FGD6_ENST00000546711.1_Splice_Site_p.V1140_splice|FGD6_ENST00000549499.1_Splice_Site_p.V1140_splice NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1140 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 GGTTTTCTGACCTGGAAGAAA 0.408000 18 65 0 0 0.008871 0 0 ZNF423 23090 broad.mit.edu 37 16 49672753 49672753 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:49672753C>G ENST00000561648.1 - 4 363 c.310G>C c.(310-312)Gcc>Ccc p.A104P ZNF423_ENST00000563137.2_Missense_Mutation_p.A44P|ZNF423_ENST00000562520.1_Missense_Mutation_p.A44P|ZNF423_ENST00000567169.1_5'UTR|ZNF423_ENST00000535559.1_5'UTR|ZNF423_ENST00000562871.1_Missense_Mutation_p.A44P|ZNF423_ENST00000262383.2_Missense_Mutation_p.A104P NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 104 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGAGACGAGGCCACCCAGGAG 0.602000 10 5 0 0 0.010729 0 0 KLF17 128209 broad.mit.edu 37 1 44584645 44584645 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:44584645G>C ENST00000372299.3 + 1 124 c.66G>C c.(64-66)gcG>gcC p.A22A KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 22 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.A22A(2) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GGCAGGCGGCGCACCAGGCTG 0.697000 13 12 0 0 0.001855 0 0 DRC1 92749 broad.mit.edu 37 2 26676226 26676226 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:26676226C>A ENST00000288710.2 + 14 1802 c.1728C>A c.(1726-1728)agC>agA p.S576R NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) AGAAGGCGAGCATGGAGGAGA 0.562000 44 48 2.13384e-23 3.74169e-23 0.003610 1 0 ATP10B 23120 broad.mit.edu 37 5 160059308 160059308 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:160059308A>T ENST00000327245.5 - 13 2294 c.1448T>A c.(1447-1449)cTg>cAg p.L483Q CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 483 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGAGAAGGACAGGCATTGGTA 0.552000 15 33 0 0 0.002450 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306276 2306276 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:2306276G>T ENST00000290974.2 - 8 2130 c.1791C>A c.(1789-1791)gcC>gcA p.A597A RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.A567A|ZFYVE28_ENST00000515312.1_Silent_p.A527A NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 597 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TGGCTAAGCCGGCAGCGTACG 0.687000 20 11 5.03518e-11 6.78584e-11 0.007413 1 0 LINC00521 256369 broad.mit.edu 37 14 94467751 94467751 + RNA SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:94467751G>C ENST00000444118.1 + 0 829 NR_024182.1 CATAGCCCTGGGGAAGGCCTA 0.662000 4 1 0 0 0.009096 0 0 SIRPB1 10326 broad.mit.edu 37 20 1592250 1592250 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:1592250C>A ENST00000279477.7 - 2 250 c.186G>T c.(184-186)gtG>gtT p.V62V SIRPB1_ENST00000568365.1_Silent_p.V62V|SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000381596.1_5'UTR|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron NM_001135844.2 NP_001129316.1 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 62 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 GGATGGGCCCCACAGGGATCA 0.547000 31 61 1.08312e-15 1.66389e-15 0.009535 1 0 VPS13B 157680 broad.mit.edu 37 8 100883035 100883035 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:100883035T>G ENST00000358544.2 + 60 11601 c.11490T>G c.(11488-11490)ctT>ctG p.L3830L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3805L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3830 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) GAGCTGGACTTTCTCAGCTTC 0.418000 17 97 0 0 0.004990 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870220 131870220 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:131870220C>T ENST00000359827.3 - 16 3958 c.2996G>A c.(2995-2997)cGa>cAa p.R999Q PLXNA4_ENST00000321063.4_Missense_Mutation_p.R999Q Q9HCM2 PLXA4_HUMAN plexin A4 999 IPT/TIG 2. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGATGGAGATCGCCTGGAGGG 0.592000 30 28 0 0 0.009535 0 0 POFUT2 23275 broad.mit.edu 37 21 46703297 46703297 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:46703297C>A ENST00000331343.7 - 3 554 c.e3+1 POFUT2_ENST00000471540.1_Splice_Site|POFUT2_ENST00000349485.5_Splice_Site NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) TCAGCAGGCACCTGTAGTACT 0.687000 42 57 2.66277e-13 3.80569e-13 0.006999 1 0 TMEM71 137835 broad.mit.edu 37 8 133764037 133764037 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:133764037A>G ENST00000356838.3 - 4 450 c.308T>C c.(307-309)tTa>tCa p.L103S TMEM71_ENST00000523829.1_Missense_Mutation_p.L103S|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.L103S NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 103 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTACCTAACTAAGTTCTCCTT 0.368000 16 99 0 0 0.003163 0 0 CPA3 1359 broad.mit.edu 37 3 148583101 148583101 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:148583101C>A ENST00000296046.3 + 1 59 c.7C>A c.(7-9)Ctc>Atc p.L3I RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 3 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) AACCATGAGGCTCATCCTGCC 0.483000 21 43 1.10513e-12 1.56342e-12 0.002299 1 0 LRRC66 339977 broad.mit.edu 37 4 52861699 52861699 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:52861699C>G ENST00000343457.3 - 4 1495 c.1489G>C c.(1489-1491)Gca>Cca p.A497P NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 497 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CCACTTCCTGCCCCGGTGTTG 0.547000 44 20 0 0 0.009718 0 0 RTP3 83597 broad.mit.edu 37 3 46539704 46539704 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:46539704C>A ENST00000296142.3 + 1 724 c.152C>A c.(151-153)gCc>gAc p.A51D NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 51 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) TGGACCTTCGCCAGGTGAGGG 0.493000 35 11 3.3946e-10 4.4879e-10 0.005524 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144866593 144866593 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:144866593C>T ENST00000369359.4 - 37 6095 c.6058_splice c.e37+1 p.R2019_splice PDE4DIP_ENST00000530740.1_Splice_Site_p.R1968_splice|PDE4DIP_ENST00000313382.9_Splice_Site_p.R1777_splice|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Splice_Site_p.R1883_splice|PDE4DIP_ENST00000369356.4_Splice_Site_p.R1883_splice Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1883 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCTCCTACCCCTTCCACGAG 0.527000 T PDGFRB MPD 37 201 0 0 0.006230 0 0 POTEC 388468 broad.mit.edu 37 18 14533109 14533109 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:14533109G>T ENST00000358970.5 - 5 1005 c.1006C>A c.(1006-1008)Cta>Ata p.L336I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 336 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTCCAGATAGATCTTGAGAA 0.368000 23 64 3.69857e-22 6.38704e-22 0.008361 1 0 ASXL3 80816 broad.mit.edu 37 18 31319459 31319459 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:31319459C>A ENST00000269197.5 + 11 2091 c.2091C>A c.(2089-2091)aaC>aaA p.N697K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 697 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 TTATGTCCAACTTACCATTAA 0.368000 141 115 8.80896e-55 1.74231e-54 0.003610 1 0 GFRAL 389400 broad.mit.edu 37 6 55223723 55223723 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:55223723C>A ENST00000340465.2 + 6 825 c.739C>A c.(739-741)Cgt>Agt p.R247S NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 247 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) ATGCTGGCAGCGTGTGACTAG 0.378000 46 29 3.86361e-14 5.70428e-14 0.003610 1 0 ASPM 259266 broad.mit.edu 37 1 197104364 197104364 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:197104364T>C ENST00000367409.4 - 5 2291 c.2035A>G c.(2035-2037)Aga>Gga p.R679G ASPM_ENST00000294732.7_Missense_Mutation_p.R679G NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 679 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ATCGGGTGTCTGGGAATATCT 0.338000 8 22 0 0 0.006214 0 0 KIF2B 84643 broad.mit.edu 37 17 51901177 51901177 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:51901177C>T ENST00000268919.4 + 1 939 c.783C>T c.(781-783)aaC>aaT p.N261N NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 261 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACCTGCAGAACCAGACCTTCT 0.542000 10 51 0 0 0.008291 0 0 TFG 10342 broad.mit.edu 37 3 100467004 100467004 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:100467004C>G ENST00000240851.4 + 8 1172 c.832C>G c.(832-834)Cag>Gag p.Q278E TFG_ENST00000418917.2_Missense_Mutation_p.Q274E|TFG_ENST00000476228.1_Missense_Mutation_p.Q274E|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000490574.1_Missense_Mutation_p.Q278E NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 278 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 AAGCTATAGTCAGCAGACTGG 0.423000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 41 60 0 0 0.009718 0 0 GRIA4 2893 broad.mit.edu 37 11 105623799 105623799 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:105623799C>A ENST00000393127.2 + 4 786 c.340C>A c.(340-342)Cat>Aat p.H114N GRIA4_ENST00000282499.5_Missense_Mutation_p.H114N|GRIA4_ENST00000428631.2_Missense_Mutation_p.H114N|GRIA4_ENST00000525187.1_Missense_Mutation_p.H114N|GRIA4_ENST00000530497.1_Missense_Mutation_p.H114N|GRIA4_ENST00000393125.2_Missense_Mutation_p.H114N NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 114 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CAGCGCCTTACATATCTCCCT 0.468000 11 48 1.58986e-06 1.89934e-06 0.008291 1 0 ACSM5 54988 broad.mit.edu 37 16 20448627 20448627 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:20448627G>A ENST00000331849.4 + 12 1621 c.1474G>A c.(1474-1476)Gca>Aca p.A492T NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 492 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 AAGTGCCCTGGCAGAGCATCC 0.562000 11 71 0 0 0.001855 0 0 C1QB 713 broad.mit.edu 37 1 22987436 22987436 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:22987436C>A ENST00000509305.1 + 3 659 c.313C>A c.(313-315)Cca>Aca p.P105T C1QB_ENST00000314933.6_Missense_Mutation_p.P107T P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 107 Collagen-like 2. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCTGGAGCCCCAGGCCCCAA 0.627000 16 56 1.3612e-06 1.62928e-06 0.003163 1 0 SCAPER 49855 broad.mit.edu 37 15 77046201 77046201 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:77046201C>A ENST00000538941.2 - 15 2015 c.1076G>T c.(1075-1077)cGa>cTa p.R359L SCAPER_ENST00000563290.1_Missense_Mutation_p.R605L|SCAPER_ENST00000324767.7_Missense_Mutation_p.R605L NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 604 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 CTGCACTTCTCGCTTAAACTC 0.378000 32 81 1.88708e-17 3.02901e-17 0.008361 1 0 CPXM2 119587 broad.mit.edu 37 10 125506516 125506516 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:125506516A>G ENST00000241305.3 - 14 2189 c.2035T>C c.(2035-2037)Tgg>Cgg p.W679R CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 679 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) AGGAGGCGCCAGTAATCCCCA 0.552000 97 100 0 0 0.003610 0 0 DLD 1738 broad.mit.edu 37 7 107546743 107546743 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:107546743G>C ENST00000205402.5 + 8 895 c.614G>C c.(613-615)gGt>gCt p.G205A DLD_ENST00000537148.1_Missense_Mutation_p.G106A|DLD_ENST00000440410.1_Missense_Mutation_p.G182A|DLD_ENST00000437604.2_Missense_Mutation_p.G157A NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 205 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) TCATCTACAGGTGCTTTATCT 0.333000 5 35 0 0 0.001984 0 0 SERPINA3 12 broad.mit.edu 37 14 95080977 95080977 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:95080977A>T ENST00000553947.1 + 5 1162 c.274A>T c.(274-276)Aag>Tag p.K92* SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.K67* P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 67 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GTTAGTCCTGAAGGCCCCTGA 0.557000 55 35 0 0 0.003610 0 0 RYR3 6263 broad.mit.edu 37 15 34093057 34093057 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:34093057A>G ENST00000389232.4 + 68 9987 c.9918_splice c.e68+1 p.H3306_splice RYR3_ENST00000415757.3_Splice_Site_p.H3306_splice NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3306 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) TGTAAATCTCATGTAAGAACA 0.433000 6 32 0 0 0.001168 0 0 KIAA1432 57589 broad.mit.edu 37 9 5689958 5689958 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:5689958G>T ENST00000414202.2 + 3 443 c.e3-1 KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TTCTCTTTCAGACGGCAAATG 0.294000 12 5 2.27111e-07 2.79041e-07 0.001368 1 0 CPA4 51200 broad.mit.edu 37 7 129962351 129962351 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:129962351C>G ENST00000222482.4 + 11 1129 c.1101C>G c.(1099-1101)atC>atG p.I367M CPA4_ENST00000445470.2_Missense_Mutation_p.I334M|CPA4_ENST00000493259.1_Missense_Mutation_p.I263M NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 367 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) GGAGCAGCATCGACTGGGCAT 0.527000 15 58 0 0 0.006122 0 0 MDFIC 29969 broad.mit.edu 37 7 114655761 114655761 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:114655761C>T ENST00000257724.3 + 5 1103 c.840C>T c.(838-840)atC>atT p.I280I MDFIC_ENST00000393486.1_Silent_p.I171I Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 171 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 TCCACTGTATCCTGGCTTGCT 0.448000 97 432 0 0 0.003610 0 0 GAK 2580 broad.mit.edu 37 4 877135 877135 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:877135T>A ENST00000314167.4 - 13 1482 c.1372A>T c.(1372-1374)Agg>Tgg p.R458W GAK_ENST00000511163.1_Missense_Mutation_p.R379W NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 458 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CGGTAGGTCCTCGGGGACAGG 0.587000 41 17 0 0 0.009718 0 0 KCTD8 386617 broad.mit.edu 37 4 44450425 44450425 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:44450425G>T ENST00000360029.3 - 1 399 c.116C>A c.(115-117)cCc>cAc p.P39H NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 39 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GAAGGGCGAGGGTGCGCAggg 0.682000 HNSCC(17;0.042) 7 29 8.12818e-05 8.99778e-05 0.001984 1 0 ZNF862 643641 broad.mit.edu 37 7 149558392 149558392 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:149558392G>T ENST00000223210.4 + 7 2388 c.2143G>T c.(2143-2145)Gtc>Ttc p.V715F NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 715 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GTTCCAGGAGGTCATCCCGCA 0.647000 10 22 0.000442599 0.00047647 0.006214 1 0 TARS 6897 broad.mit.edu 37 5 33462206 33462206 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:33462206A>G ENST00000265112.3 + 16 2044 c.1733A>G c.(1732-1734)cAt>cGt p.H578R TARS_ENST00000455217.2_Missense_Mutation_p.H611R|TARS_ENST00000414361.2_Missense_Mutation_p.H457R|TARS_ENST00000502553.1_Missense_Mutation_p.H578R|TARS_ENST00000541634.1_Missense_Mutation_p.H474R|TARS_ENST00000509410.1_3'UTR NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 578 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) CTTTATAGCCATGATGGTGAT 0.358000 19 134 0 0 0.007413 0 0 MTRR 4552 broad.mit.edu 37 5 7878080 7878080 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:7878080G>T ENST00000264668.2 + 5 536 c.506G>T c.(505-507)tGg>tTg p.W169L MTRR_ENST00000440940.2_Missense_Mutation_p.W142L|MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 169 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GTTGAGCCGTGGATTGCTGGA 0.473000 45 136 1.48526e-39 2.86524e-39 0.003610 1 0 ESYT2 57488 broad.mit.edu 37 7 158590748 158590748 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:158590748G>T ENST00000251527.5 - 3 601 c.536C>A c.(535-537)cCt>cAt p.P179H ESYT2_ENST00000497111.1_5'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 207 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GCAAATGAAAGGCCACATGTG 0.428000 11 26 2.80697e-09 3.61929e-09 0.010729 1 0 UNC79 57578 broad.mit.edu 37 14 94120109 94120109 + Silent SNP G G T rs142666714 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:94120109G>T ENST00000553484.1 + 38 6442 c.6288G>T c.(6286-6288)gcG>gcT p.A2096A UNC79_ENST00000393151.2_Silent_p.A2074A|UNC79_ENST00000256339.4_Silent_p.A1897A|UNC79_ENST00000555664.1_Silent_p.A2035A Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2074 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCGGCAATGCGGCGGGGGTGG 0.532000 120 109 1.28113e-61 2.55409e-61 0.003610 1 0 NPAP1 23742 broad.mit.edu 37 15 24923267 24923267 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:24923267G>A ENST00000329468.2 + 1 2727 c.2253G>A c.(2251-2253)caG>caA p.Q751Q NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGCCTGCACAGTCAGTCAGGG 0.562000 84 63 0 0 0.003610 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572906 38572906 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:38572906G>T ENST00000222345.6 + 3 1210 c.701G>T c.(700-702)gGg>gTg p.G234V NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 234 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GACGCCCGAGGGTGCCAGGCC 0.701000 16 63 3.41278e-10 4.50243e-10 0.004990 1 0 LAMC3 10319 broad.mit.edu 37 9 133942513 133942513 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:133942513C>A ENST00000361069.4 + 14 2647 c.2514C>A c.(2512-2514)acC>acA p.T838T LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 838 Laminin EGF-like 8. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGCACAACACCACGGGTGACC 0.642000 32 8 2.47316e-13 3.54684e-13 0.003271 1 0 FAM84A 151354 broad.mit.edu 37 2 14774171 14774171 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:14774171G>T ENST00000295092.2 + 2 356 c.68G>T c.(67-69)gGg>gTg p.G23V FAM84A_ENST00000331243.4_Missense_Mutation_p.G23V NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 23 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GACCCGTCGGGGATTGAAAAG 0.617000 10 20 2.17888e-05 2.47546e-05 0.006214 1 0 TOPBP1 11073 broad.mit.edu 37 3 133358846 133358846 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:133358846T>A ENST00000260810.5 - 13 2321 c.2190A>T c.(2188-2190)agA>agT p.R730S NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 730 BRCT 5. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TTTCGTCTGCTCTCTTTCCCG 0.368000 Other conserved DNA damage response genes 16 30 0 0 0.006122 0 0 NFE2 4778 broad.mit.edu 37 12 54686778 54686778 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:54686778G>A ENST00000540264.2 - 2 1011 c.502C>T c.(502-504)Cgg>Tgg p.R168W NFE2_ENST00000312156.4_Missense_Mutation_p.R168W|NFE2_ENST00000435572.2_Missense_Mutation_p.R168W|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.R168W Q16621 NFE2_HUMAN nuclear factor, erythroid 2 168 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TCGCTGCGCCGCCGACCAGCC 0.552000 57 77 0 0 0.003610 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217315567 217315567 + Splice_Site SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:217315567A>T ENST00000357276.4 + 12 2181 c.e12-1 SMARCAL1_ENST00000358207.5_Splice_Site NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TGTTCTCTGCAGATGCCTTGG 0.612000 Schimke Immuno-Osseous Dysplasia 7 33 0 0 0.001984 0 0 MYOZ1 58529 broad.mit.edu 37 10 75397562 75397562 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:75397562C>A ENST00000359322.4 - 3 556 c.192G>T c.(190-192)caG>caT p.Q64H NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 64 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CCACCCTCATCTGCCGCAGTT 0.488000 86 114 4.78148e-37 9.16756e-37 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179605447 179605447 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179605447C>A ENST00000589042.1 - 48 12737 c.12513G>T c.(12511-12513)gaG>gaT p.E4171D TTN_ENST00000359218.5_Missense_Mutation_p.E3933D|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.E4000D|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3808D|TTN_ENST00000591111.1_Missense_Mutation_p.E3854D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3854 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) GTGTCTCAGGCTCTTCAGGCA 0.428000 43 45 1.47197e-15 2.2557e-15 0.007835 1 0 LINGO1 84894 broad.mit.edu 37 15 77906965 77906965 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:77906965G>C ENST00000355300.6 - 2 1458 c.1284C>G c.(1282-1284)gaC>gaG p.D428E LINGO1_ENST00000561030.1_Missense_Mutation_p.D422E NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 428 Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GGGCCTTGCGGTCCCGGATGC 0.672000 5 16 0 0 0.000602 0 0 LRP1B 53353 broad.mit.edu 37 2 141267567 141267567 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:141267567G>T ENST00000389484.3 - 52 9299 c.8328C>A c.(8326-8328)ccC>ccA p.P2776P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2776 LDL-receptor class A 17. 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) GCCAATGTCGGGGCACGCAGG 0.522000 TSP Lung(27;0.18) 27 126 1.39806e-14 2.09625e-14 0.008361 1 0 TNNI1 7135 broad.mit.edu 37 1 201382239 201382239 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:201382239C>T ENST00000361379.4 - 6 292 c.200G>A c.(199-201)cGg>cAg p.R67Q TNNI1_ENST00000336092.4_Missense_Mutation_p.R67Q|TNNI1_ENST00000555948.1_Missense_Mutation_p.R67Q|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67Q NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 67 R -> W (in dbSNP:rs2296695). muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding p.R67L(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 GTGCAGCTCCCGGCACAGGTC 0.592000 77 289 0 0 0.003610 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767133 77767133 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:77767133G>T ENST00000521891.2 + 10 8424 c.7976G>T c.(7975-7977)cGg>cTg p.R2659L ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2633L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2614L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2614L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2614 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) ACACGAGCGCGGGAGAGGAAA 0.527000 HNSCC(33;0.089) 40 171 1.57019e-19 2.60382e-19 0.007835 1 0 KCNH3 23416 broad.mit.edu 37 12 49944096 49944096 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:49944096C>T ENST00000257981.6 + 10 2162 c.1902C>T c.(1900-1902)acC>acT p.T634T NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 634 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGGGTGGCACCGTGCTCGCCA 0.627000 37 48 0 0 0.009718 0 0 ZNF185 7739 broad.mit.edu 37 X 152083306 152083306 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:152083306G>A ENST00000535861.1 + 2 135 c.87G>A c.(85-87)atG>atA p.M29I ZNF185_ENST00000318504.7_Missense_Mutation_p.M29I|ZNF185_ENST00000449285.2_Missense_Mutation_p.M29I|ZNF185_ENST00000539731.1_Missense_Mutation_p.M29I|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000370268.4_Missense_Mutation_p.M29I NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 29 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) TCAAGCAGATGAAAGTGCGAA 0.592000 9 6 0 0 0.006214 0 0 RGPD3 653489 broad.mit.edu 37 2 107040686 107040686 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:107040686G>T ENST00000409886.3 - 20 3824 c.3737C>A c.(3736-3738)aCa>aAa p.T1246K RGPD3_ENST00000304514.7_Missense_Mutation_p.T1246K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1246 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCATTCTAATGTGGGCCCAGT 0.453000 126 131 8.174e-68 1.63742e-67 0.003610 1 0 DLGAP1 9229 broad.mit.edu 37 18 3534215 3534215 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:3534215C>A ENST00000315677.3 - 10 3051 c.2456G>T c.(2455-2457)cGg>cTg p.R819L DLGAP1_ENST00000515196.2_Missense_Mutation_p.R819L|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R525L|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R503L|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R527L|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R525L|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R535L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R509L NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 819 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GTTGTTTTCCCGTTCTTCCCG 0.582000 37 34 1.49673e-21 2.56349e-21 0.006230 1 0 RASAL2 9462 broad.mit.edu 37 1 178427494 178427494 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:178427494G>C ENST00000448150.3 + 14 3852 c.3034G>C c.(3034-3036)Gcc>Ccc p.A1012P RASAL2_ENST00000367649.3_Missense_Mutation_p.A1023P|RASAL2_ENST00000462775.1_Missense_Mutation_p.A882P NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 882 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AGGTGCCCGAGCCAAAGCCCC 0.582000 31 25 0 0 0.010818 0 0 HDX 139324 broad.mit.edu 37 X 83730299 83730299 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:83730299T>A ENST00000297977.5 - 2 218 c.107A>T c.(106-108)cAg>cTg p.Q36L HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.Q36L NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 36 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CTGTGCACACTGTAATATGAG 0.338000 17 30 0 0 0.007413 0 0 KNG1 3827 broad.mit.edu 37 3 186437939 186437939 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:186437939G>T ENST00000265023.4 + 2 453 c.241G>T c.(241-243)Ggg>Tgg p.G81W KNG1_ENST00000447445.1_Missense_Mutation_p.G81W|KNG1_ENST00000287611.2_Missense_Mutation_p.G81W|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 81 Cystatin 1. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) AATCAAGGAGGGGGATTGTCC 0.448000 18 33 8.00594e-06 9.25525e-06 0.007413 1 0 PCSK9 255738 broad.mit.edu 37 1 55512290 55512290 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:55512290G>T ENST00000302118.5 + 3 784 c.494G>T c.(493-495)cGg>cTg p.R165L PCSK9_ENST00000452118.2_Missense_Mutation_p.R165L|PCSK9_ENST00000543384.1_Intron NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 165 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 ACCCCTCCACGGTACCGGGCG 0.617000 15 18 2.23348e-06 2.64553e-06 0.004007 1 0 XIRP2 129446 broad.mit.edu 37 2 168101897 168101897 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:168101897A>G ENST00000409195.1 + 9 4084 c.3995A>G c.(3994-3996)cAt>cGt p.H1332R XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1332R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1110R|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1157 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 GGGTCCTATCATGAAGTGACC 0.383000 11 33 0 0 0.008291 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424817 47424817 + Missense_Mutation SNP G G C rs140857154 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:47424817G>C ENST00000404338.3 + 1 2885 c.2885G>C c.(2884-2886)aGc>aCc p.S962T NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 962 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GAGGCCTGTAGCACCACCGAA 0.463000 3 35 0 0 0.004672 0 0 ANGPT4 51378 broad.mit.edu 37 20 896605 896605 + Missense_Mutation SNP G G T rs149874461 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:896605G>T ENST00000381922.3 - 1 355 c.253C>A c.(253-255)Cag>Aag p.Q85K ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q85K NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 85 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 TTCACCTGCTGGGTGGGCAAC 0.632000 54 95 4.1673e-28 7.62787e-28 0.003610 1 0 KALRN 8997 broad.mit.edu 37 3 124431918 124431918 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:124431918C>T ENST00000360013.3 + 58 8339 c.8212C>T c.(8212-8214)Ccc>Tcc p.P2738S KALRN_ENST00000291478.4_Missense_Mutation_p.P1041S|KALRN_ENST00000428018.2_Missense_Mutation_p.P1009S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2737 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTACAGCACCCCCAGTACAT 0.498000 21 87 0 0 0.002299 0 0 FAM131C 348487 broad.mit.edu 37 1 16385088 16385088 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:16385088G>C ENST00000375662.4 - 7 870 c.687C>G c.(685-687)agC>agG p.S229R FAM131C_ENST00000494078.1_5'UTR NM_182623.2 NP_872429.2 Q96AQ9 F131C_HUMAN family with sequence similarity 131, member C 229 Pro-rich. large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TGCCAGCGGTGCTGGGGGGCT 0.736000 3 12 0 0 0.004672 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77191245 77191245 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:77191245G>T ENST00000426126.2 + 2 774 c.125G>T c.(124-126)gGa>gTa p.G42V ZDHHC17_ENST00000334822.5_Missense_Mutation_p.G42V|ZDHHC17_ENST00000359019.4_Intron NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 42 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TATAACCATGGATATGGTGAA 0.343000 12 12 6.72482e-11 9.04348e-11 0.003163 1 0 ZP4 57829 broad.mit.edu 37 1 238050169 238050169 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:238050169C>A ENST00000366570.4 - 6 900 c.e6-1 RP11-193H5.1_ENST00000450451.1_RNA NM_021186.3 NP_067009.1 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTCCAGTGATCTACAGGAATA 0.463000 45 15 1.02591e-13 1.49353e-13 0.010771 1 0 TAS2R30 259293 broad.mit.edu 37 12 11286404 11286404 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:11286404A>C ENST00000539585.1 - 1 839 c.440T>G c.(439-441)aTa>aGa p.I147R TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 ATCCATGTTTATCACAAAAAG 0.373000 30 135 0 0 0.009535 0 0 PCLO 27445 broad.mit.edu 37 7 82453732 82453732 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:82453732C>A ENST00000423517.2 - 19 14753 c.14415_splice c.e19-1 p.V4806_splice PCLO_ENST00000333891.8_Splice_Site_p.V4806_splice|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4668 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 TCAATCAATACCTGAAAAAAA 0.313000 12 12 0.00010058 0.000110948 0.001368 1 0 RFPL2 10739 broad.mit.edu 37 22 32589152 32589152 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:32589152G>T ENST00000400236.3 - 4 1228 c.23C>A c.(22-24)gCa>gAa p.A8E RFPL2_ENST00000248983.4_Missense_Mutation_p.A8E|RFPL2_ENST00000400237.1_Missense_Mutation_p.A98E|RFPL2_ENST00000248980.4_Missense_Mutation_p.A37E|RFPL2_ENST00000489846.1_5'UTR NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 98 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 ACAGCTGCTTGCTTCTTGGAA 0.483000 59 9 7.10663e-31 1.32403e-30 0.003610 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21769237 21769237 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:21769237C>A ENST00000206660.6 + 3 331 c.331C>A c.(331-333)Cag>Aag p.Q111K RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q111K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 111 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) GGGATGGCGGCAGCGCCTCTC 0.741000 7 25 2.0095e-06 2.38926e-06 0.001984 1 0 ETV3L 440695 broad.mit.edu 37 1 157062832 157062832 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:157062832A>T ENST00000454449.2 - 5 979 c.695T>A c.(694-696)tTc>tAc p.F232Y NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 232 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGGAGGAGTGAAGGAGGCAAC 0.647000 7 3 0 0 0.001984 0 0 PKHD1 5314 broad.mit.edu 37 6 51774135 51774135 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:51774135C>G ENST00000371117.3 - 40 6903 c.6628G>C c.(6628-6630)Ggg>Cgg p.G2210R PKHD1_ENST00000340994.4_Missense_Mutation_p.G2210R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2210 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AAGGCTTGCCCCAAGACTTGA 0.532000 51 56 0 0 0.003610 0 0 COPA 1314 broad.mit.edu 37 1 160281721 160281721 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:160281721T>C ENST00000241704.7 - 11 1242 c.1013A>G c.(1012-1014)gAc>gGc p.D338G COPA_ENST00000368069.3_Missense_Mutation_p.D338G NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 338 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TAAGAATCGGTCCTTGACATA 0.493000 6 31 0 0 0.003080 0 0 RGS2 5997 broad.mit.edu 37 1 192779316 192779316 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:192779316G>T ENST00000235382.5 + 2 162 c.131G>T c.(130-132)cGt>cTt p.R44L RGS2_ENST00000483295.1_3'UTR NM_002923.3 NP_002914.1 P41220 RGS2_HUMAN regulator of G-protein signaling 2, 24kDa 44 Necessary for membrane association. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity large_intestine(3)|lung(1)|urinary_tract(1) 5 TGGAAGACCCGTTTGAGCTAC 0.358000 14 20 3.27435e-08 4.09539e-08 0.002450 1 0 KRT6C 286887 broad.mit.edu 37 12 52865270 52865270 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52865270C>T ENST00000252250.6 - 4 894 c.847G>A c.(847-849)Gaa>Aaa p.E283K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 283 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GCTTGCAGTTCAACCTTGTTC 0.483000 33 57 0 0 0.003271 0 0 DECR2 26063 broad.mit.edu 37 16 461425 461425 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:461425G>C ENST00000219481.5 + 8 864 c.726G>C c.(724-726)aaG>aaC p.K242N DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.K230N NM_020664.3 NP_065715.1 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2, peroxisomal 242 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4) 9 Hepatocellular(16;0.00015) TGGGGAACAAGACCGAGATCG 0.687000 25 6 0 0 0.003330 0 0 MROH2B 133558 broad.mit.edu 37 5 41051185 41051185 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:41051185G>T ENST00000399564.4 - 13 1688 c.1238C>A c.(1237-1239)cCa>cAa p.P413Q MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGTTTTCACTGGTTTCTCCTT 0.428000 7 26 2.0095e-06 2.38926e-06 0.001984 1 0 BRINP3 339479 broad.mit.edu 37 1 190203589 190203589 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:190203589C>T ENST00000367462.3 - 5 868 c.637G>A c.(637-639)Ggt>Agt p.G213S FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G111S NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 213 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) CCAAGAGGACCAGTCCGTGTT 0.388000 5 44 0 0 0.000602 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256192 15256192 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:15256192G>T ENST00000378116.4 - 8 1401 c.1395C>A c.(1393-1395)ccC>ccA p.P465P FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 465 P -> S (in dbSNP:rs3814165). 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 TTGCCTTTAAGGGAAAAACCT 0.463000 18 12 3.70931e-20 6.19208e-20 0.006122 1 0 OR2G6 391211 broad.mit.edu 37 1 248685360 248685360 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:248685360C>A ENST00000343414.4 + 1 445 c.413C>A c.(412-414)cCc>cAc p.P138H NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTATGCACCCCAGGTTCTGT 0.587000 26 31 9.57634e-11 1.28094e-10 0.003330 1 0 TSPEAR 54084 broad.mit.edu 37 21 45947323 45947323 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr21:45947323C>A ENST00000323084.4 - 7 1066 c.1001G>T c.(1000-1002)cGc>cTc p.R334L TSPEAR_ENST00000397916.1_Missense_Mutation_p.R266L NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 334 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CTGAGGGATGCGGAACACCTC 0.522000 46 11 9.84934e-19 1.61405e-18 0.010771 1 0 FGFR1OP 11116 broad.mit.edu 37 6 167413566 167413566 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:167413566G>C ENST00000366847.3 + 2 352 c.121G>C c.(121-123)Gtg>Ctg p.V41L FGFR1OP_ENST00000349556.4_Missense_Mutation_p.V41L|FGFR1OP_ENST00000476078.1_3'UTR NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 41 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) CCGAGCAGCTGTGTTTTTAGC 0.318000 T FGFR1 """MPD, NHL""" 13 5 0 0 0.003163 0 0 CALCRL 10203 broad.mit.edu 37 2 188243735 188243735 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:188243735C>A ENST00000409998.1 - 9 1213 c.432G>T c.(430-432)ctG>ctT p.L144L AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L144L|CALCRL_ENST00000392370.3_Silent_p.L144L|AC007319.1_ENST00000453517.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 144 L -> Q (in Ref. 4; BAF84319). integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) CAATTATGGTCAGGTAAAACA 0.289000 14 40 6.94344e-10 9.05541e-10 0.006122 1 0 OR4K13 390433 broad.mit.edu 37 14 20502451 20502451 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:20502451G>T ENST00000315693.2 - 1 468 c.467C>A c.(466-468)tCa>tAa p.S156* NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 156 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) TTGACTAGATGAGTGCACAAA 0.463000 32 50 1.74807e-11 2.37889e-11 0.010818 1 0 CCDC80 151887 broad.mit.edu 37 3 112337825 112337825 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:112337825A>T ENST00000206423.3 - 4 3115 c.2162T>A c.(2161-2163)cTg>cAg p.L721Q CCDC80_ENST00000439685.2_Missense_Mutation_p.L721Q NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 721 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTTGACTCTCAGATCCACATC 0.388000 45 44 0 0 0.003610 0 0 OR2A14 135941 broad.mit.edu 37 7 143826988 143826988 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:143826988C>A ENST00000408899.2 + 1 838 c.783C>A c.(781-783)ccC>ccA p.P261P NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) ACATGGCCCCCAAGTCCCGCC 0.547000 89 75 5.02048e-33 9.48061e-33 0.003610 1 0 ST8SIA1 6489 broad.mit.edu 37 12 22402033 22402033 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:22402033C>A ENST00000396037.4 - 4 973 c.e4-1 ST8SIA1_ENST00000539510.1_Splice_Site NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 GAGATTGCATCTAGAGAAACA 0.338000 34 7 1.74807e-11 2.37889e-11 0.010818 1 0 ZDBF2 57683 broad.mit.edu 37 2 207176280 207176280 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:207176280G>A ENST00000374423.3 + 5 7414 c.7028G>A c.(7027-7029)cGg>cAg p.R2343Q NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2343 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 ATGATGACTCGGCTAGCAAAC 0.408000 6 22 0 0 0.001168 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90576933 90576933 + RNA SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:90576933A>T ENST00000551025.1 + 0 5361 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TGAGTGATGCACAAATGGGTG 0.398000 40 17 0 0 0.007835 0 0 GRHPR 9380 broad.mit.edu 37 9 37424918 37424918 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:37424918G>T ENST00000607784.1 + 2 165 c.160G>T c.(160-162)Ggc>Tgc p.G54C GRHPR_ENST00000318158.6_Missense_Mutation_p.G54C|GRHPR_ENST00000493368.1_3'UTR Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 54 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) GGGGGCCCACGGCCTGCTCTG 0.667000 13 23 6.31663e-08 7.85344e-08 0.003163 1 0 FAAH2 158584 broad.mit.edu 37 X 57337123 57337123 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:57337123G>T ENST00000374900.4 + 3 493 c.373G>T c.(373-375)Ggg>Tgg p.G125W NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 125 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GCCCTTCCTTGGGGTTCCTTT 0.418000 HNSCC(52;0.14) 14 6 1.3612e-06 1.62928e-06 0.003163 1 0 PCDHB3 56132 broad.mit.edu 37 5 140480640 140480640 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:140480640A>T ENST00000231130.2 + 1 407 c.407A>T c.(406-408)aAt>aTt p.N136I AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 136 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) TTCTTTGAAAATGAAATGCAT 0.393000 35 15 0 0 0.003271 0 0 PRNP 5621 broad.mit.edu 37 20 4679880 4679880 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:4679880G>C ENST00000379440.4 + 2 301 c.14G>C c.(13-15)gGc>gCc p.G5A PRNP_ENST00000430350.2_Missense_Mutation_p.G5A NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 5 axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) GCGAACCTTGGCTGCTGGATG 0.498000 31 64 0 0 0.003755 0 0 C11orf48 79081 broad.mit.edu 37 11 62430601 62430601 + Nonstop_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:62430601C>G ENST00000431002.2 - 5 2603 c.870G>C c.(868-870)taG>taC p.*290Y C11orf48_ENST00000524958.1_Missense_Mutation_p.S98T|RP11-831H9.11_ENST00000528405.1_Intron|C11orf48_ENST00000532208.1_Nonstop_Mutation_p.*264Y|C11orf48_ENST00000525675.1_Nonstop_Mutation_p.*123Y|C11orf48_ENST00000354588.3_Nonstop_Mutation_p.*264Y Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 0 endometrium(1)|lung(5)|urinary_tract(1) 7 CTGTGGTTCACTAGTCCTGGC 0.473000 29 32 0 0 0.012213 0 0 NPAP1 23742 broad.mit.edu 37 15 24923831 24923831 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:24923831C>A ENST00000329468.2 + 1 3291 c.2817C>A c.(2815-2817)agC>agA p.S939R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGAGTGGCAGCATAATTCCAC 0.488000 20 70 4.35082e-09 5.58689e-09 0.010504 1 0 NAV3 89795 broad.mit.edu 37 12 78515962 78515962 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:78515962C>A ENST00000397909.2 + 16 4165 c.3992C>A c.(3991-3993)tCc>tAc p.S1331Y NAV3_ENST00000266692.7_Intron|NAV3_ENST00000228327.6_Missense_Mutation_p.S1331Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S1331Y Q8IVL0 NAV3_HUMAN neuron navigator 3 1331 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCGTTGGCCTCCAGCCCAGCA 0.532000 HNSCC(70;0.22) 36 54 1.03484e-13 1.50478e-13 0.005524 1 0 FMO1 2326 broad.mit.edu 37 1 171249944 171249944 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:171249944G>C ENST00000354841.4 + 5 778 c.647G>C c.(646-648)gGa>gCa p.G216A FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.G216A|FMO1_ENST00000402921.2_Missense_Mutation_p.G153A Q01740 FMO1_HUMAN flavin containing monooxygenase 1 216 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCACCACCGGAGGGGGATGG 0.512000 13 40 0 0 0.002450 0 0 CCDC63 160762 broad.mit.edu 37 12 111345233 111345233 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:111345233C>T ENST00000308208.5 + 12 1887 c.1645C>T c.(1645-1647)Cct>Tct p.P549S CCDC63_ENST00000545036.1_Missense_Mutation_p.P509S|CCDC63_ENST00000552694.1_Missense_Mutation_p.P470S NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 549 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGACAGCCTGCCTGAGAAGGT 0.502000 23 48 0 0 0.002780 0 0 CRYBG3 131544 broad.mit.edu 37 3 97599971 97599971 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:97599971G>T ENST00000182096.4 + 4 1280 c.1216G>T c.(1216-1218)Ggg>Tgg p.G406W NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 GCTAGAAGAAGGGGAAAAGGT 0.353000 12 11 0.000978159 0.00104404 0.010729 1 0 TCEAL5 340543 broad.mit.edu 37 X 102528906 102528906 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:102528906C>A ENST00000372680.1 - 3 880 c.586G>T c.(586-588)Ggc>Tgc p.G196C NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCTTTCTGGCCCCTACCTCCG 0.493000 50 21 6.34439e-16 9.87957e-16 0.003610 1 0 SLC22A12 116085 broad.mit.edu 37 11 64368221 64368221 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:64368221G>T ENST00000377574.1 + 9 2156 c.1409G>T c.(1408-1410)gGc>gTc p.G470V SLC22A12_ENST00000377567.2_Missense_Mutation_p.G362V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.G362V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.G249V|SLC22A12_ENST00000336464.7_Missense_Mutation_p.G436V NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 470 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 ACGGCAGTGGGCTTGGGCCAG 0.672000 12 59 4.3838e-07 5.35988e-07 0.001855 1 0 NR4A1 3164 broad.mit.edu 37 12 52452475 52452475 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52452475G>C ENST00000545748.1 + 8 2701 c.1706G>C c.(1705-1707)cGg>cCg p.R569P NR4A1_ENST00000550082.1_Missense_Mutation_p.R528P|NR4A1_ENST00000394824.2_Missense_Mutation_p.R515P|NR4A1_ENST00000394825.1_Missense_Mutation_p.R515P|NR4A1_ENST00000243050.1_Missense_Mutation_p.R515P|NR4A1_ENST00000360284.3_Missense_Mutation_p.R528P P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 515 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CCCGCAGACCGGCATGGGCTG 0.677000 7 10 0 0 0.001984 0 0 ZNF136 7695 broad.mit.edu 37 19 12298427 12298427 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:12298427A>T ENST00000343979.4 + 4 1374 c.1234A>T c.(1234-1236)Aga>Tga p.R412* ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R346* NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 412 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 AATACATGAAAGAACTCACAC 0.363000 18 7 0 0 0.006122 0 0 EIF4E2 9470 broad.mit.edu 37 2 233431634 233431634 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:233431634G>T ENST00000409514.1 + 5 513 c.471G>T c.(469-471)ggG>ggT p.G157G EIF4E2_ENST00000409167.3_Silent_p.G112G|EIF4E2_ENST00000409322.1_Silent_p.G112G|EIF4E2_ENST00000258416.3_Silent_p.G157G|EIF4E2_ENST00000409495.1_Silent_p.G157G|EIF4E2_ENST00000409098.1_Silent_p.G157G|EIF4E2_ENST00000409394.1_Silent_p.G112G O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 157 EIF4EBP1/2/3 binding. regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCATGCTGGGGGAACAGTTCA 0.532000 17 45 5.35267e-07 6.53809e-07 0.007413 1 0 NRCAM 4897 broad.mit.edu 37 7 107818538 107818538 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:107818538A>T ENST00000379028.3 - 26 3341 c.2871T>A c.(2869-2871)tcT>tcA p.S957S NRCAM_ENST00000413765.2_Silent_p.S938S|NRCAM_ENST00000379022.4_Silent_p.S957S|NRCAM_ENST00000379024.4_Silent_p.S938S|NRCAM_ENST00000425651.2_Silent_p.S957S|NRCAM_ENST00000351718.4_Silent_p.S941S Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 957 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CAATCTTCAAAGACGAGGGAG 0.438000 26 7 0 0 0.004656 0 0 C14orf105 55195 broad.mit.edu 37 14 57957781 57957781 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:57957781C>T ENST00000216445.3 - 2 368 c.232G>A c.(232-234)Gac>Aac p.D78N C14orf105_ENST00000526336.1_Missense_Mutation_p.D78N|C14orf105_ENST00000422976.2_Missense_Mutation_p.D78N|C14orf105_ENST00000534126.1_Missense_Mutation_p.D78N NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 78 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 AAATACATGTCTCTGGATGCT 0.333000 9 40 0 0 0.008291 0 0 SLC2A10 81031 broad.mit.edu 37 20 45355581 45355581 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:45355581G>T ENST00000359271.2 + 3 1617 c.1367G>T c.(1366-1368)tGg>tTg p.W456L NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 456 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) AGCTTCAACTGGGCGGCCAAC 0.552000 74 38 1.74474e-33 3.31475e-33 0.003610 1 0 OR51D1 390038 broad.mit.edu 37 11 4661045 4661045 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:4661045C>T ENST00000357605.2 + 1 101 c.25C>T c.(25-27)Cct>Tct p.P9S NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 9 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) GCTCTTGGTCCCTATCATAGC 0.478000 31 76 0 0 0.010818 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881413 228881413 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:228881413G>T ENST00000392056.3 - 7 4203 c.4157C>A c.(4156-4158)tCt>tAt p.S1386Y SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1386Y NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1386 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) TTTGCTCAAAGATGACACTGG 0.483000 20 55 2.37509e-13 3.41402e-13 0.010504 1 0 VSIG2 23584 broad.mit.edu 37 11 124621372 124621372 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:124621372C>A ENST00000403470.1 - 2 221 c.166G>T c.(166-168)Gcc>Tcc p.A56S VSIG2_ENST00000326621.5_Missense_Mutation_p.A56S Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 56 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|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;0.0215) CACTCCAGGGCGAAGCTGTCT 0.632000 20 43 1.00905e-13 1.47069e-13 0.008871 1 0 FANCG 2189 broad.mit.edu 37 9 35074939 35074939 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:35074939C>A ENST00000378643.3 - 12 2112 c.1621G>T c.(1621-1623)Gtg>Ttg p.V541L FANCG_ENST00000476212.1_Intron NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 541 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CACATCTGCACACTGAGGAGG 0.542000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 23 90 4.16121e-05 4.65164e-05 0.002780 1 0 AEBP2 121536 broad.mit.edu 37 12 19646919 19646919 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:19646919A>G ENST00000266508.9 + 4 1174 c.1174_splice c.e4+1 p.L391_splice AEBP2_ENST00000541908.1_Splice_Site_p.L162_splice|AEBP2_ENST00000398864.3_Splice_Site_p.L391_splice|AEBP2_ENST00000360995.4_Splice_Site_p.L175_splice NM_153207.4 NP_694939.2 Q6ZN18 AEBP2_HUMAN AE binding protein 2 391 Interaction with SUZ12. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) GACGCTCATTACGTAAGTGTT 0.358000 7 7 0 0 0.003080 0 0 FAM133B 257415 broad.mit.edu 37 7 92210862 92210862 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:92210862C>A ENST00000438306.1 - 3 280 c.50G>T c.(49-51)gGg>gTg p.G17V FAM133B_ENST00000427372.1_Missense_Mutation_p.G17V|FAM133B_ENST00000445716.1_Missense_Mutation_p.G27V NM_001040057.1 NP_001035146.1 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B 27 endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TATTGTTGGCCCTGAAGACTG 0.373000 6 38 5.18039e-06 6.04459e-06 0.003080 1 0 TTN 7273 broad.mit.edu 37 2 179606420 179606420 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179606420G>T ENST00000589042.1 - 48 11764 c.11540C>A c.(11539-11541)cCc>cAc p.P3847H TTN_ENST00000359218.5_Missense_Mutation_p.P3609H|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.P3676H|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3484H|TTN_ENST00000591111.1_Missense_Mutation_p.P3530H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3530 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) TTTAGGTTTGGGGATGCCAAT 0.418000 17 71 6.94344e-10 9.05541e-10 0.006122 1 0 ZNF467 168544 broad.mit.edu 37 7 149462853 149462853 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:149462853G>A ENST00000302017.3 - 5 1151 c.738C>T c.(736-738)tgC>tgT p.C246C ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCACTCCGCGCACGGGTAGG 0.677000 4 23 0 0 0.000602 0 0 SZT2 23334 broad.mit.edu 37 1 43886870 43886870 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:43886870G>T ENST00000562955.1 + 11 1522 c.1522G>T c.(1522-1524)Gcc>Tcc p.A508S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 508 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCAGATGCTTGCCCACCTTCA 0.567000 72 9 5.29578e-48 1.03599e-47 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179616287 179616287 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179616287C>A ENST00000360870.5 - 46 11062 c.10840G>T c.(10840-10842)Gaa>Taa p.E3614* TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9474 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) TGTGTCCGTTCTGCTCTTTTC 0.383000 17 109 1.15088e-07 1.42241e-07 0.004007 1 0 VNN2 8875 broad.mit.edu 37 6 133073888 133073888 + Splice_Site SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:133073888A>C ENST00000326499.6 - 4 662 c.537_splice c.e4-1 p.Y180_splice VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Splice_Site_p.Y127_splice|RP1-55C23.7_ENST00000430895.1_RNA NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 180 CN hydrolase. 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) TACAGGTGGTACTACAACAAA 0.408000 26 38 0 0 0.004656 0 0 SMIM19 114926 broad.mit.edu 37 8 42401673 42401673 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:42401673G>A ENST00000438528.3 + 2 107 c.58G>A c.(58-60)Gaa>Aaa p.E20K SMIM19_ENST00000414154.2_Missense_Mutation_p.E20K|SMIM19_ENST00000490331.2_Missense_Mutation_p.E20K|SMIM19_ENST00000416469.2_Missense_Mutation_p.E20K|SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000417410.2_Missense_Mutation_p.E20K NM_001135676.1 NP_001129148.1 small integral membrane protein 19 TACTGTTCACGAAGCCTGGAA 0.408000 19 25 0 0 0.012319 0 0 DNAJB4 11080 broad.mit.edu 37 1 78481780 78481780 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:78481780G>T ENST00000370763.5 + 3 1120 c.863G>T c.(862-864)gGa>gTa p.G288V DNAJB4_ENST00000487931.1_3'UTR|GIPC2_ENST00000476882.1_Intron NM_007034.3 NP_008965.2 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 288 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GTGAAACCCGGAATGAGGAGA 0.398000 10 14 0.000442599 0.00047647 0.006214 1 0 ZNF577 84765 broad.mit.edu 37 19 52376759 52376759 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:52376759C>A ENST00000420592.1 - 6 1640 c.307G>T c.(307-309)Gtg>Ttg p.V103L ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000301399.5_Missense_Mutation_p.V162L|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.V103L Q9BSK1 ZN577_HUMAN zinc finger protein 577 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTCCCGCACACACTGCATTCA 0.443000 64 16 5.10652e-33 9.62856e-33 0.003610 1 0 CDH20 28316 broad.mit.edu 37 18 59203832 59203832 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:59203832C>A ENST00000262717.4 + 8 1776 c.1378C>A c.(1378-1380)Cat>Aat p.H460N CDH20_ENST00000538374.1_Missense_Mutation_p.H460N|CDH20_ENST00000536675.2_Missense_Mutation_p.H460N Q9HBT6 CAD20_HUMAN cadherin 20, type 2 460 Cadherin 4. 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) ATTTTCTTGGCATAATATCAC 0.403000 9 63 0.00448238 0.00471592 0.004482 1 0 HEPACAM2 253012 broad.mit.edu 37 7 92848567 92848567 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:92848567C>G ENST00000394468.2 - 2 354 c.277G>C c.(277-279)Gaa>Caa p.E93Q HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E81Q|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.E81Q|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E116Q NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 93 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TGTTGGTATTCCAAGTCAGGA 0.458000 23 35 0 0 0.002299 0 0 LOC150776 150776 broad.mit.edu 37 2 132273204 132273204 + RNA SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:132273204G>C ENST00000438378.2 + 0 1264 NR_026922.1 AGGAGCATGTGTTGGTGGTGC 0.662000 3 5 0 0 0.009096 0 0 MAGI2 9863 broad.mit.edu 37 7 77789350 77789350 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:77789350G>T ENST00000354212.4 - 16 3090 c.2837C>A c.(2836-2838)tCc>tAc p.S946Y MAGI2_ENST00000419488.1_Missense_Mutation_p.S932Y|MAGI2_ENST00000522391.1_Missense_Mutation_p.S946Y NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 946 PDZ 5. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACTTATAGTGGATCCAGACTC 0.463000 15 29 1.49906e-05 1.70931e-05 0.002450 1 0 OR51A2 401667 broad.mit.edu 37 11 4976505 4976505 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:4976505C>A ENST00000380371.1 - 1 438 c.439G>T c.(439-441)Ggg>Tgg p.G147W MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATACTATCCCTATTTGGGCA 0.423000 20 7 1.08312e-15 1.66389e-15 0.009535 1 0 TTN 7273 broad.mit.edu 37 2 179432053 179432053 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179432053G>A ENST00000589042.1 - 326 79030 c.78806C>T c.(78805-78807)tCc>tTc p.S26269F TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S17329F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S23701F|TTN_ENST00000342175.6_Missense_Mutation_p.S17396F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S17204F|TTN_ENST00000591111.1_Missense_Mutation_p.S24628F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24628 Fibronectin type-III 91. 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) TGCAACATTGGAAGCTCTTAA 0.383000 54 204 0 0 0.003610 0 0 OR5D14 219436 broad.mit.edu 37 11 55563407 55563407 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:55563407G>T ENST00000335605.1 + 1 376 c.376G>T c.(376-378)Gtg>Ttg p.V126L NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGACCGCTTTGTGGCCATCTG 0.527000 32 18 2.61193e-14 3.87457e-14 0.009535 1 0 CSMD2 114784 broad.mit.edu 37 1 34192228 34192228 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:34192228A>T ENST00000373381.4 - 16 2603 c.2427T>A c.(2425-2427)ccT>ccA p.P809P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 769 CUB 5. 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) TGTAGAAGCCAGGCCAGCCCG 0.597000 27 19 0 0 0.006320 0 0 PKHD1 5314 broad.mit.edu 37 6 51613290 51613290 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:51613290T>C ENST00000371117.3 - 58 9399 c.9124A>G c.(9124-9126)Att>Gtt p.I3042V PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3042 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCAAACACAATATTGTCATTT 0.493000 17 49 0 0 0.004007 0 0 ILDR2 387597 broad.mit.edu 37 1 166904587 166904587 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:166904587C>A ENST00000271417.3 - 6 886 c.831G>T c.(829-831)ccG>ccT p.P277P ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529071.1_Silent_p.P258P|ILDR2_ENST00000469934.2_Silent_p.P277P|ILDR2_ENST00000529387.1_Intron NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 277 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GAGGTGGATGCGGCTTGTCCA 0.622000 38 46 6.2361e-21 1.05508e-20 0.007835 1 0 TNFRSF8 943 broad.mit.edu 37 1 12144554 12144554 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:12144554C>A ENST00000263932.2 + 2 319 c.97C>A c.(97-99)Ccc>Acc p.P33T TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 33 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TCATGGAAACCCCAGCCACTA 0.592000 12 76 7.93312e-07 9.57789e-07 0.002450 1 0 TRIM10 10107 broad.mit.edu 37 6 30121889 30121889 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:30121889G>C ENST00000449742.2 - 7 1378 c.1303C>G c.(1303-1305)Ctt>Gtt p.L435V TRIM10_ENST00000376704.3_Intron NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 435 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 TCATAGTCAAGAGACACCCTC 0.612000 21 17 0 0 0.012319 0 0 CPLX2 10814 broad.mit.edu 37 5 175306040 175306040 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:175306040G>C ENST00000359546.4 + 4 804 c.161G>C c.(160-162)cGc>cCc p.R54P CPLX2_ENST00000393745.3_Missense_Mutation_p.R54P|CPLX2_ENST00000512824.1_Missense_Mutation_p.R54P|CPLX2_ENST00000515094.1_Missense_Mutation_p.R54P NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 54 Interaction with the SNARE complex (By similarity). mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AAGCACGCGCGCATGGAGGCG 0.692000 5 1 0 0 0.000602 0 0 LAMC3 10319 broad.mit.edu 37 9 133914606 133914606 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:133914606G>T ENST00000361069.4 + 6 1387 c.1254G>T c.(1252-1254)ggG>ggT p.G418G LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 418 Laminin EGF-like 3. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GTCTGCCCGGGTTCCACTCGC 0.622000 17 6 1.02788e-11 1.41109e-11 0.004990 1 0 FCRL5 83416 broad.mit.edu 37 1 157494195 157494195 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:157494195C>T ENST00000361835.3 - 10 2270 c.2113G>A c.(2113-2115)Gcc>Acc p.A705T FCRL5_ENST00000368190.3_Missense_Mutation_p.A705T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A620T|FCRL5_ENST00000356953.4_Missense_Mutation_p.A705T NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 705 Ig-like C2-type 7. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCAGAGGGGGCTGAGATCTTA 0.567000 47 46 0 0 0.003610 0 0 IL5 3567 broad.mit.edu 37 5 131879088 131879088 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:131879088G>T ENST00000231454.1 - 1 126 c.83C>A c.(82-84)gCa>gAa p.A28E NM_000879.2 NP_000870.1 P05113 IL5_HUMAN interleukin 5 (colony-stimulating factor, eosinophil) 28 immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly extracellular space cytokine activity|growth factor activity|interleukin-5 receptor binding endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Pranlukast(DB01411) TTTCACCAATGCACTTGTGGG 0.453000 30 14 4.74835e-14 7.00228e-14 0.010818 1 0 ADAM11 4185 broad.mit.edu 37 17 42854956 42854956 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:42854956G>T ENST00000200557.6 + 22 2057 c.1888G>T c.(1888-1890)Gag>Tag p.E630* ADAM11_ENST00000535346.1_Nonsense_Mutation_p.E430* NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 630 Cys-rich. 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) CCAGGGCAAGGAGCTGGACTG 0.607000 57 20 1.0442e-30 1.94255e-30 0.003610 1 0 ITGA2B 3674 broad.mit.edu 37 17 42455818 42455818 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:42455818G>C ENST00000262407.5 - 20 2037 c.2006C>G c.(2005-2007)gCc>gGc p.A669G ITGA2B_ENST00000353281.4_Missense_Mutation_p.A669G NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 669 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GCCCTCGTTGGCTGCGTCCAT 0.652000 8 10 0 0 0.003080 0 0 KRT5 3852 broad.mit.edu 37 12 52913994 52913994 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52913994G>T ENST00000252242.4 - 1 477 c.87C>A c.(85-87)cgC>cgA p.R29R NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 29 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton p.R29R(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TGAAGCTGGTGCGGGAGACAG 0.662000 10 46 1.76689e-08 2.23224e-08 0.006214 1 0 ASTN2 23245 broad.mit.edu 37 9 119568059 119568059 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:119568059A>C ENST00000313400.4 - 13 2348 c.2248T>G c.(2248-2250)Tgc>Ggc p.C750G ASTN2_ENST00000361209.2_Missense_Mutation_p.C699G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.C746G O75129 ASTN2_HUMAN astrotactin 2 750 EGF-like 3. 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 AGCATTAAGCAGGATTTTCCA 0.473000 63 20 0 0 0.003610 0 0 EXOC8 149371 broad.mit.edu 37 1 231472716 231472716 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:231472716C>A ENST00000366645.1 - 1 882 c.764G>T c.(763-765)aGc>aTc p.S255I EXOC8_ENST00000360394.2_Missense_Mutation_p.S259I Q8IYI6 EXOC8_HUMAN exocyst complex component 8 259 PH. exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) GAAAATACGGCTCTCGGGGAA 0.522000 53 19 3.50607e-19 5.79867e-19 0.003610 1 0 F13B 2165 broad.mit.edu 37 1 197026446 197026446 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:197026446C>T ENST00000367412.1 - 6 998 c.955G>A c.(955-957)Gga>Aga p.G319R NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 319 Sushi 5. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GTCCATTTTCCATCTTCACAA 0.358000 21 71 0 0 0.002780 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70728531 70728531 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:70728531C>A ENST00000370944.4 - 13 1809 c.e13-1 ANKRD13C_ENST00000262346.6_Splice_Site|ANKRD13C_ENST00000464236.1_Intron NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 ACAGGTATATCTACAGAGAGA 0.343000 13 18 5.50884e-06 6.38617e-06 0.001368 1 0 TCF20 6942 broad.mit.edu 37 22 42606592 42606592 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:42606592C>G ENST00000359486.3 - 1 4856 c.4720G>C c.(4720-4722)Gag>Cag p.E1574Q TCF20_ENST00000335626.4_Missense_Mutation_p.E1574Q NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGCTTTGGCTCTCCATCTGCA 0.547000 53 19 0 0 0.003610 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644533 20644533 + RNA SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:20644533C>T ENST00000428453.1 - 0 3187 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 TGGCACTACACGGCTCTTCAC 0.637000 3 5 0 0 0.004672 0 0 PRRX1 5396 broad.mit.edu 37 1 170695468 170695468 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:170695468G>T ENST00000239461.6 + 3 838 c.525G>T c.(523-525)gtG>gtT p.V175V PRRX1_ENST00000497230.2_Silent_p.V175V|PRRX1_ENST00000367760.3_Silent_p.V175V|PRRX1_ENST00000476867.2_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 175 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) TGACTGCTGTGGAGCAGCCCA 0.557000 24 46 4.16121e-05 4.65164e-05 0.002780 1 0 FAM124B 79843 broad.mit.edu 37 2 225266347 225266347 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:225266347G>T ENST00000389874.3 - 1 364 c.139C>A c.(139-141)Cgg>Agg p.R47R FAM124B_ENST00000243806.2_Silent_p.R47R|FAM124B_ENST00000409685.3_Silent_p.R47R NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 47 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) GGACTGGCCCGTTCAGACACC 0.572000 10 39 2.80697e-09 3.61929e-09 0.010729 1 0 C20orf26 26074 broad.mit.edu 37 20 20232362 20232362 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:20232362C>G ENST00000245957.5 + 20 2359 c.2283C>G c.(2281-2283)atC>atG p.I761M C20orf26_ENST00000389656.3_Missense_Mutation_p.I117M|C20orf26_ENST00000377309.2_Missense_Mutation_p.I117M|C20orf26_ENST00000377293.1_Missense_Mutation_p.I117M NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 761 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CGGACGAGATCGTGCCCTACG 0.597000 58 75 0 0 0.003610 0 0 RYR3 6263 broad.mit.edu 37 15 33895566 33895566 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:33895566G>T ENST00000389232.4 + 18 2234 c.e18+1 RYR3_ENST00000415757.3_Splice_Site NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 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) CTTTGGTCAGGTGAGTACCTT 0.468000 103 89 3.22635e-48 6.33133e-48 0.003610 1 0 TEF 7008 broad.mit.edu 37 22 41783370 41783370 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:41783370A>T ENST00000266304.4 + 2 289 c.173A>T c.(172-174)aAg>aTg p.K58M TEF_ENST00000406644.3_Missense_Mutation_p.K28M NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 58 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 GAAAAGGGGAAGGAAAAGCTG 0.557000 9 32 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9084550 9084550 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:9084550G>T ENST00000397910.4 - 1 7468 c.7265C>A c.(7264-7266)aCa>aAa p.T2422K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2422 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 GGCTGTATTTGTCTCTGTTGT 0.498000 16 9 4.7546e-09 6.0929e-09 0.004007 1 0 MYBPC3 4607 broad.mit.edu 37 11 47360203 47360203 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:47360203G>A ENST00000399249.2 - 22 2230 c.2176C>T c.(2176-2178)Cgc>Tgc p.R726C MYBPC3_ENST00000545968.1_Missense_Mutation_p.R726C|MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725C Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 725 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GTCTCCACGCGGACCCGGCCC 0.642000 16 5 0 0 0.004990 0 0 KIAA0430 9665 broad.mit.edu 37 16 15728691 15728691 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:15728691C>A ENST00000396368.3 - 4 1135 c.929G>T c.(928-930)gGc>gTc p.G310V KIAA0430_ENST00000551742.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G310V|KIAA0430_ENST00000344181.3_Missense_Mutation_p.G132V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G310V NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 309 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GGTTCCACAGCCATTACACAG 0.458000 47 61 6.68952e-21 1.13027e-20 0.013114 1 0 WDR12 55759 broad.mit.edu 37 2 203765834 203765834 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:203765834T>C ENST00000261015.3 - 3 894 c.145A>G c.(145-147)Aaa>Gaa p.K49E WDR12_ENST00000477723.1_5'UTR NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 49 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 TCCACATGTTTGTGGAACTCT 0.373000 8 13 0 0 0.006214 0 0 RANBP2 5903 broad.mit.edu 37 2 109388981 109388981 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:109388981G>T ENST00000283195.6 + 22 8183 c.8057G>T c.(8056-8058)gGa>gTa p.G2686V NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2686 2 X 50 AA approximate repeats.|Interaction with SUMO1.|Required for E3 SUMO-ligase activity. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AAACTTAATGGAAAACTATAT 0.323000 15 15 1.02788e-11 1.41109e-11 0.004990 1 0 PTPRC 5788 broad.mit.edu 37 1 198703512 198703512 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:198703512C>A ENST00000367376.2 + 22 2400 c.2229C>A c.(2227-2229)gcC>gcA p.A743A PTPRC_ENST00000442510.2_Silent_p.A745A|PTPRC_ENST00000348564.6_Silent_p.A584A|PTPRC_ENST00000352140.3_Silent_p.A695A|PTPRC_ENST00000594404.1_Silent_p.A582A NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 743 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AACAGAAAGCCACAGTTATTG 0.393000 131 196 8.25677e-62 1.64872e-61 0.003610 1 0 ZNF91 7644 broad.mit.edu 37 19 23543273 23543273 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:23543273C>A ENST00000300619.7 - 4 2713 c.2508G>T c.(2506-2508)aaG>aaT p.K836N ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.K804N NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 836 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTGAGGAGTGCTTAAAAGCTT 0.378000 18 37 2.35188e-11 3.19713e-11 0.006122 1 0 SP140 11262 broad.mit.edu 37 2 231174726 231174726 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:231174726T>C ENST00000392045.3 + 23 2260 c.2146T>C c.(2146-2148)Tgt>Cgt p.C716R SP140_ENST00000350136.5_Missense_Mutation_p.C585R|SP140_ENST00000486687.2_Missense_Mutation_p.C640R|SP140_ENST00000417495.3_Missense_Mutation_p.C602R|SP140_ENST00000343805.6_Missense_Mutation_p.C656R|SP140_ENST00000420434.3_Missense_Mutation_p.C689R NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 716 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCATGAGGACTGTCACATCCC 0.517000 17 61 0 0 0.004990 0 0 CCDC135 84229 broad.mit.edu 37 16 57760145 57760145 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:57760145A>T ENST00000360716.3 + 14 2145 c.1924A>T c.(1924-1926)Agc>Tgc p.S642C CCDC135_ENST00000336825.8_Missense_Mutation_p.S577C|CCDC135_ENST00000394337.4_Missense_Mutation_p.S642C Q8IY82 CC135_HUMAN coiled-coil domain containing 135 642 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CGAGGTGGACAGCAAAGGCAA 0.662000 23 9 0 0 0.003330 0 0 CSMD3 114788 broad.mit.edu 37 8 113516144 113516144 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:113516144G>T ENST00000297405.5 - 30 5202 c.4958C>A c.(4957-4959)cCa>cAa p.P1653Q CSMD3_ENST00000352409.3_Missense_Mutation_p.P1653Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1549Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1613Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1653 CUB 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCAATCAGTGGGCTATTACT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 64 34 3.13743e-37 6.04317e-37 0.003610 1 0 DLG2 1740 broad.mit.edu 37 11 83180382 83180382 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:83180382A>T ENST00000398309.2 - 20 2636 c.2166T>A c.(2164-2166)gaT>gaA p.D722E DLG2_ENST00000426717.2_Missense_Mutation_p.D186E|DLG2_ENST00000543673.1_Missense_Mutation_p.D827E|DLG2_ENST00000280241.8_Missense_Mutation_p.D761E|DLG2_ENST00000376106.3_Missense_Mutation_p.D186E|DLG2_ENST00000532653.1_Missense_Mutation_p.D704E|DLG2_ENST00000404783.3_Missense_Mutation_p.D200E|DLG2_ENST00000376104.2_Missense_Mutation_p.D827E|DLG2_ENST00000531015.1_Missense_Mutation_p.D689E|DLG2_ENST00000524982.1_Missense_Mutation_p.D718E|DLG2_ENST00000330014.6_Missense_Mutation_p.D643E|DLG2_ENST00000418306.2_Missense_Mutation_p.D601E|DLG2_ENST00000537455.1_Missense_Mutation_p.D472E NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 722 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGTCTCTGCCATCCACCTCGT 0.363000 9 62 0 0 0.006214 0 0 PCLO 27445 broad.mit.edu 37 7 82390062 82390062 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:82390062G>T ENST00000333891.8 - 24 15518 c.15181C>A c.(15181-15183)Caa>Aaa p.Q5061K NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4984 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 ACCTTTTTTTGGGTAGAAATA 0.303000 10 8 1.76689e-08 2.23224e-08 0.006214 1 0 LMX1A 4009 broad.mit.edu 37 1 165175199 165175199 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:165175199T>A ENST00000342310.3 - 8 1272 c.890A>T c.(889-891)cAg>cTg p.Q297L LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_Missense_Mutation_p.Q297L|LMX1A_ENST00000367893.4_Missense_Mutation_p.Q297L NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 297 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGGAGCTGCTGTGGGGTGGG 0.577000 38 34 0 0 0.006230 0 0 EVC2 132884 broad.mit.edu 37 4 5642297 5642297 + Nonsense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:5642297T>A ENST00000310917.2 - 10 1905 c.1174A>T c.(1174-1176)Aga>Tga p.R392* EVC2_ENST00000344408.5_Nonsense_Mutation_p.R472*|EVC2_ENST00000344938.1_Nonsense_Mutation_p.R472* NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 472 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 ATCATCTCTCTCTGGTACTGG 0.468000 136 49 0 0 0.003610 0 0 KCNC2 3747 broad.mit.edu 37 12 75601539 75601539 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:75601539G>T ENST00000549446.1 - 2 905 c.225C>A c.(223-225)ggC>ggA p.G75G KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000393288.2_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 75 Gly/Pro-rich (insert). 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 CGAAGCAGCCGCCTGGCCCGg 0.766000 8 15 5.18039e-06 6.04459e-06 0.003080 1 0 PSG4 5672 broad.mit.edu 37 19 43702373 43702373 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:43702373A>G ENST00000405312.3 - 3 722 c.485T>C c.(484-486)aTg>aCg p.M162T PSG4_ENST00000244295.9_Missense_Mutation_p.M162T|PSG4_ENST00000433626.2_Intron NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 162 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CACAGCCTCCATGGCCTCCCT 0.542000 111 45 0 0 0.003610 0 0 OR4L1 122742 broad.mit.edu 37 14 20529045 20529045 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:20529045T>C ENST00000315683.1 + 1 842 c.842T>C c.(841-843)tTa>tCa p.L281S NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATCACACCCTTACTGAATCCG 0.353000 9 21 0 0 0.001368 0 0 TPO 7173 broad.mit.edu 37 2 1457524 1457524 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:1457524T>C ENST00000345913.4 + 6 632 c.541T>C c.(541-543)Tat>Cat p.Y181H TPO_ENST00000382198.1_Missense_Mutation_p.Y181H|TPO_ENST00000329066.4_Missense_Mutation_p.Y181H|TPO_ENST00000337415.3_Missense_Mutation_p.Y181H|TPO_ENST00000382201.3_Missense_Mutation_p.Y181H|TPO_ENST00000346956.3_Missense_Mutation_p.Y181H|TPO_ENST00000349624.3_Missense_Mutation_p.Y181H|TPO_ENST00000497517.2_Intron NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 181 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCCTCCAGTCTATGAGGACGG 0.602000 57 41 0 0 0.003610 0 0 CRB1 23418 broad.mit.edu 37 1 197390502 197390502 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:197390502A>T ENST00000367400.3 + 6 1679 c.1544A>T c.(1543-1545)cAg>cTg p.Q515L CRB1_ENST00000367399.2_Missense_Mutation_p.Q403L|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.Q214L|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.Q446L|CRB1_ENST00000538660.1_Missense_Mutation_p.Q515L|CRB1_ENST00000367397.1_5'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 515 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTCAGGTTTCAGACTGTTCAG 0.478000 33 50 0 0 0.012213 0 0 CACNA1E 777 broad.mit.edu 37 1 181765968 181765968 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:181765968G>T ENST00000526775.1 + 45 6352 c.6187G>T c.(6187-6189)Ggc>Tgc p.G2063C CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1689C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2125C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2082C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2076C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2014C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2106C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2125 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACCCAGTGAGGGCAGGTCACA 0.587000 3 8 0.004672 0.00490305 0.004672 1 0 CHST2 9435 broad.mit.edu 37 3 142840050 142840050 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:142840050C>G ENST00000309575.3 + 2 1776 c.392C>G c.(391-393)gCc>gGc p.A131G NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 131 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CCTCCCGCTGCCGCCGTCGGG 0.786000 7 3 0 0 0.010729 0 0 ADRA1D 146 broad.mit.edu 37 20 4228916 4228916 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:4228916C>A ENST00000379453.4 - 1 805 c.689G>T c.(688-690)gGg>gTg p.G230V NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 230 cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CAGCAGGGGCCCTACGGACAC 0.677000 4 9 0.00909568 0.0094583 0.009096 1 0 COL2A1 1280 broad.mit.edu 37 12 48367957 48367957 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:48367957A>G ENST00000380518.3 - 53 4396 c.4232T>C c.(4231-4233)cTg>cCg p.L1411P COL2A1_ENST00000337299.6_Missense_Mutation_p.L1342P|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1411 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTGGATGAGCAGGGCCTTCTT 0.592000 11 73 0 0 0.010729 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496662 20496662 + RNA SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:20496662G>T ENST00000555186.1 + 0 715 NR_038836.1 CAAAGCGCCCGGCTGTGTGTG 0.438000 5 22 0.00116845 0.00124079 0.001168 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130217883 130217883 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:130217883T>G ENST00000276211.5 + 4 840 c.495T>G c.(493-495)ttT>ttG p.F165L ARHGAP36_ENST00000370921.1_Missense_Mutation_p.F29L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.F153L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 165 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TCCGGCGCTTTTTCAGTCGCA 0.632000 45 17 0 0 0.009718 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128846491 128846491 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:128846491C>A ENST00000310343.9 - 19 2118 c.2119G>T c.(2119-2121)Gag>Tag p.E707* ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E633* NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 707 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGAGACTCCTCACTTTTAGCT 0.363000 29 23 2.08457e-15 3.18278e-15 0.010818 1 0 MICAL3 57553 broad.mit.edu 37 22 18300793 18300793 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:18300793G>T ENST00000441493.2 - 26 4986 c.4634C>A c.(4633-4635)aCg>aAg p.T1545K NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1545 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) GGACGGGGGCGTGAAGAATTT 0.627000 13 25 1.5842e-08 2.00954e-08 0.001855 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171798 68171798 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:68171798C>A ENST00000243457.3 + 2 1001 c.618C>A c.(616-618)ggC>ggA p.G206G KCNJ2_ENST00000535240.1_Silent_p.G206G NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 206 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) TGAGAGACGGCAAGCTGTGTT 0.488000 14 47 5.01169e-05 5.59736e-05 0.004990 1 0 COL5A1 1289 broad.mit.edu 37 9 137704345 137704345 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:137704345G>T ENST00000371817.3 + 47 4155 c.3741G>T c.(3739-3741)caG>caT p.Q1247H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1247 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) ACGTGGGCCAGATGGTAAGTG 0.537000 34 17 2.51541e-25 4.49257e-25 0.004878 1 0 SEMA3D 223117 broad.mit.edu 37 7 84636136 84636136 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:84636136C>A ENST00000284136.6 - 16 1933 c.1890G>T c.(1888-1890)ggG>ggT p.G630G SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 630 Ig-like C2-type. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GATGCTCATCCCCTGACCTCT 0.373000 57 46 3.30712e-30 6.13409e-30 0.003610 1 0 KIAA0226 9711 broad.mit.edu 37 3 197402066 197402066 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:197402066C>A ENST00000273582.5 - 21 3152 c.2605_splice c.e21-1 p.E869_splice KIAA0226_ENST00000296343.5_Splice_Site_p.E914_splice NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 914 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ACGCTTTACACTCTACTCAGG 0.582000 14 35 0.00185496 0.00196481 0.001855 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110539098 110539098 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:110539098T>C ENST00000378402.5 + 77 12674 c.12570T>C c.(12568-12570)tcT>tcC p.S4190S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4190 Poly-Ser. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTCTGTCTCTagcagtggca 0.418000 HNSCC(38;0.096) 8 15 0 0 0.003080 0 0 CDH10 1008 broad.mit.edu 37 5 24535924 24535924 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:24535924A>T ENST00000264463.4 - 4 1041 c.534T>A c.(532-534)tcT>tcA p.S178S NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 178 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S178S(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTTGCACCACAGAAGTACCTG 0.458000 HNSCC(23;0.051) 15 53 0 0 0.003163 0 0 ANO4 121601 broad.mit.edu 37 12 101436247 101436247 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:101436247G>T ENST00000392979.3 + 11 1410 c.e11+1 ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 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 GCCAAGTCAGGTACGGGGAGC 0.488000 HNSCC(74;0.22) 48 56 3.73128e-16 5.83946e-16 0.003610 1 0 POLE 5426 broad.mit.edu 37 12 133226046 133226046 + Missense_Mutation SNP C C A rs149462407 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:133226046C>A ENST00000320574.5 - 31 3894 c.3851G>T c.(3850-3852)cGg>cTg p.R1284L POLE_ENST00000535270.1_Missense_Mutation_p.R1257L NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1284 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GAGGCGCTGCCGGGCCTGCAG 0.667000 DNA polymerases (catalytic subunits) 46 28 2.43468e-25 4.3546e-25 0.003610 1 0 PCK1 5105 broad.mit.edu 37 20 56139388 56139388 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:56139388G>T ENST00000319441.4 + 7 1289 c.1125G>T c.(1123-1125)gaG>gaT p.E375D PCK1_ENST00000543666.1_Missense_Mutation_p.E58D|PCK1_ENST00000535860.1_Missense_Mutation_p.E243D NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 375 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCATTGATGAGCCGCTAGCTT 0.562000 26 28 3.7963e-18 6.18072e-18 0.003330 1 0 XIRP2 129446 broad.mit.edu 37 2 167760382 167760382 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:167760382A>T ENST00000409195.1 + 2 479 c.390A>T c.(388-390)ccA>ccT p.P130P XIRP2_ENST00000409756.2_Silent_p.P130P|XIRP2_ENST00000295237.9_Silent_p.P130P|XIRP2_ENST00000409043.1_Silent_p.P130P|XIRP2_ENST00000420519.1_Silent_p.P130P|XIRP2_ENST00000409728.1_Silent_p.P130P NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 GAAACAAACCAGCTGAGTACG 0.458000 13 55 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179444017 179444017 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179444017T>C ENST00000589042.1 - 320 67964 c.67740A>G c.(67738-67740)ccA>ccG p.P22580P TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.P13640P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.P20012P|TTN_ENST00000342175.6_Silent_p.P13707P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.P13515P|TTN_ENST00000591111.1_Silent_p.P20939P|RP11-171I2.2_ENST00000603521.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20939 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) AGGAGACTGATGGAGCTGGCT 0.458000 23 63 0 0 0.003954 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953473 32953473 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:32953473G>T ENST00000321639.5 + 2 723 c.395G>T c.(394-396)cGc>cTc p.R132L NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 132 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TTCATCGTCCGCTCGCACGTG 0.701000 9 14 7.48243e-07 9.04247e-07 0.006214 1 0 ADGRG6 57211 broad.mit.edu 37 6 142759436 142759436 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:142759436C>T ENST00000230173.6 + 24 3985 c.3509C>T c.(3508-3510)tCa>tTa p.S1170L GPR126_ENST00000367608.2_Missense_Mutation_p.S1142L|GPR126_ENST00000296932.8_Missense_Mutation_p.S1142L|GPR126_ENST00000367609.3_Missense_Mutation_p.S1170L NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 1170 Ser-rich. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GGTTCCAACTCAACCTATCTT 0.358000 11 2 0 0 0.001368 0 0 TMEM145 284339 broad.mit.edu 37 19 42821921 42821921 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:42821921G>T ENST00000598766.1 + 12 1033 c.1033G>T c.(1033-1035)Gga>Tga p.G345* TMEM145_ENST00000301204.3_Nonsense_Mutation_p.G321* Q8NBT3 TM145_HUMAN transmembrane protein 145 321 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CGGGCTCATTGGACTGCAGGT 0.577000 28 10 4.87955e-14 7.17885e-14 0.005443 1 0 CASS4 57091 broad.mit.edu 37 20 55025690 55025690 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:55025690C>A ENST00000371336.3 + 4 798 c.597C>A c.(595-597)gcC>gcA p.A199A CASS4_ENST00000434344.1_Silent_p.A199A|CASS4_ENST00000360314.3_Silent_p.A199A NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 199 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ACATACCAGCCAGCCCCAAGA 0.488000 12 24 0.000151284 0.000166293 0.001855 1 0 RIMBP2 23504 broad.mit.edu 37 12 130963550 130963550 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:130963550C>T ENST00000261655.4 - 3 172 c.9G>A c.(7-9)gaG>gaA p.E3E RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 3 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GTTCAGCCGCCTCTCGCATAT 0.612000 45 28 0 0 0.003610 0 0 TBC1D4 9882 broad.mit.edu 37 13 75863090 75863090 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:75863090C>A ENST00000377636.3 - 20 3989 c.3643G>T c.(3643-3645)Gac>Tac p.D1215Y TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1152Y|TBC1D4_ENST00000425511.1_Missense_Mutation_p.D379Y|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1207Y NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1215 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TCTAGGAGGTCCATGTTTTGT 0.408000 11 26 0.000151284 0.000166293 0.001855 1 0 ZIC3 7547 broad.mit.edu 37 X 136648931 136648931 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:136648931G>T ENST00000287538.5 + 1 631 c.81G>T c.(79-81)atG>atT p.M27I ZIC3_ENST00000370606.3_Missense_Mutation_p.M27I NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 27 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) ACCACGAGATGCCCAACCGTG 0.721000 5 1 0.000602214 0.000646077 0.000602 1 0 FAM117A 81558 broad.mit.edu 37 17 47788741 47788741 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:47788741C>T ENST00000240364.2 - 8 1317 c.1238G>A c.(1237-1239)aGc>aAc p.S413N RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Missense_Mutation_p.S141N NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 413 Pro-rich. haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 TGGCCTGGGGCTGGCCGGGGG 0.647000 12 21 0 0 0.003163 0 0 DNAH3 55567 broad.mit.edu 37 16 21078605 21078605 + Splice_Site SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:21078605T>G ENST00000261383.3 - 24 3516 c.3518_splice c.e24+1 p.R1173_splice DNAH3_ENST00000415178.1_Splice_Site_p.R1173_splice NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1173 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTGGATACCTGGGGAAGAAT 0.423000 20 26 0 0 0.008871 0 0 CCDC27 148870 broad.mit.edu 37 1 3669273 3669273 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:3669273G>T ENST00000294600.2 + 1 312 c.228G>T c.(226-228)cgG>cgT p.R76R NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 76 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGGCCAGCCGGGACGCCCGGT 0.622000 18 60 1.2644e-06 1.52085e-06 0.010504 1 0 DNAH3 55567 broad.mit.edu 37 16 20981275 20981275 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:20981275G>A ENST00000261383.3 - 52 8296 c.8297C>T c.(8296-8298)gCa>gTa p.A2766V DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2766 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGCCTCGAGTGCAGGCATTGC 0.607000 23 79 0 0 0.003954 0 0 CAPN10 11132 broad.mit.edu 37 2 241533437 241533437 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:241533437G>T ENST00000391984.2 + 5 999 c.803G>T c.(802-804)cGg>cTg p.R268L CAPN10_ENST00000354082.4_Missense_Mutation_p.R268L|CAPN10_ENST00000391982.2_Missense_Mutation_p.R268L|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000404753.3_Missense_Mutation_p.R268L NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 268 Calpain catalytic. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) TGGGGCCGGCGGTGCTGGCAG 0.687000 23 74 3.62473e-10 4.77702e-10 0.012319 1 0 EPHA3 2042 broad.mit.edu 37 3 89391031 89391031 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:89391031G>T ENST00000336596.2 + 5 1322 c.1097G>T c.(1096-1098)tGt>tTt p.C366F EPHA3_ENST00000494014.1_Missense_Mutation_p.C366F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C366F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 366 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGTAAAAAATGTGGGTGGAAT 0.478000 TSP Lung(6;0.00050) 19 33 2.39187e-15 3.6431e-15 0.008871 1 0 THSD7B 80731 broad.mit.edu 37 2 138033543 138033543 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:138033543G>T ENST00000409968.1 + 12 2625 c.2447G>T c.(2446-2448)tGg>tTg p.W816L THSD7B_ENST00000272643.3_Missense_Mutation_p.W816L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.W785L 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) GAGTCTGTCTGGCAGGGAATA 0.413000 8 22 3.86212e-05 4.32502e-05 0.008291 1 0 PHIP 55023 broad.mit.edu 37 6 79695070 79695070 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:79695070T>A ENST00000275034.4 - 22 2703 c.2537_splice c.e22+1 p.S846_splice NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 846 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTCATTTACCTAGAACTGCCA 0.363000 13 30 0 0 0.002450 0 0 FGL1 2267 broad.mit.edu 37 8 17731968 17731968 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:17731968G>T ENST00000398056.2 - 6 1122 c.307C>A c.(307-309)Cag>Aag p.Q103K FGL1_ENST00000518650.1_Missense_Mutation_p.Q103K|FGL1_ENST00000381841.2_Missense_Mutation_p.Q103K|FGL1_ENST00000522444.1_Missense_Mutation_p.Q103K|FGL1_ENST00000427924.1_Missense_Mutation_p.Q103K|FGL1_ENST00000398054.1_Missense_Mutation_p.Q103K|FGL1_ENST00000381840.2_Missense_Mutation_p.Q103K Q08830 FGL1_HUMAN fibrinogen-like 1 103 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) GCTGGGCTCTGGAGAGGTTTG 0.378000 57 16 3.84483e-29 7.07902e-29 0.003610 1 0 EFR3A 23167 broad.mit.edu 37 8 132957094 132957094 + Silent SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:132957094A>C ENST00000254624.5 + 3 415 c.190A>C c.(190-192)Agg>Cgg p.R64R EFR3A_ENST00000519656.1_Silent_p.R28R|EFR3A_ENST00000334503.4_Silent_p.R64R NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 64 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) AAGGTTGAGCAGGGATGTTGT 0.373000 5 31 0 0 0.001168 0 0 DPPA2 151871 broad.mit.edu 37 3 109019251 109019251 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:109019251C>T ENST00000478945.1 - 8 1132 c.886G>A c.(886-888)Gta>Ata p.V296I NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 296 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 TACTTCTCTACTGTCATTAAT 0.348000 18 108 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179439643 179439643 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179439643A>G ENST00000589042.1 - 326 71440 c.71216T>C c.(71215-71217)gTt>gCt p.V23739A TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14799A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21171A|TTN_ENST00000342175.6_Missense_Mutation_p.V14866A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14674A|TTN_ENST00000591111.1_Missense_Mutation_p.V22098A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22098 Fibronectin type-III 72. 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) ATCAGATGAAACTTCATCAAA 0.443000 10 25 0 0 0.008291 0 0 TENM2 57451 broad.mit.edu 37 5 167643927 167643927 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:167643927G>T ENST00000519204.1 + 21 3988 c.3870_splice c.e21+1 p.Q1290_splice TENM2_ENST00000403607.2_Splice_Site_p.Q1235_splice|TENM2_ENST00000545108.1_Splice_Site_p.Q1410_splice|TENM2_ENST00000518659.1_Splice_Site_p.Q1411_splice|TENM2_ENST00000520394.1_Splice_Site_p.Q1172_splice teneurin transmembrane protein 2 ATGTAGCCCAGGTGAGACTCT 0.532000 30 10 3.03874e-20 5.07944e-20 0.003271 1 0 DLG1 1739 broad.mit.edu 37 3 196812495 196812495 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:196812495T>A ENST00000346964.2 - 17 2082 c.1893A>T c.(1891-1893)ccA>ccT p.P631P DLG1_ENST00000452595.1_Silent_p.P515P|DLG1_ENST00000450955.1_Silent_p.P598P|DLG1_ENST00000448528.2_Silent_p.P631P|DLG1_ENST00000443183.1_Silent_p.P515P|DLG1_ENST00000422288.1_Silent_p.P580P|DLG1_ENST00000392382.2_Silent_p.P598P|DLG1_ENST00000357674.4_Silent_p.P598P|DLG1_ENST00000314062.3_Silent_p.P580P|DLG1_ENST00000419354.1_Silent_p.P631P NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 631 SH3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCTCACCATCTGGTGTAACCT 0.448000 34 36 0 0 0.003271 0 0 SERPINB2 5055 broad.mit.edu 37 18 61564427 61564427 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:61564427G>T ENST00000457692.1 + 5 724 c.391G>T c.(391-393)Ggt>Tgt p.G131C SERPINB2_ENST00000299502.4_Missense_Mutation_p.G131C|SERPINB2_ENST00000482254.1_3'UTR NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 131 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TAAGCTGTTTGGTGAGAAGTC 0.423000 38 10 3.62531e-18 5.91001e-18 0.004289 1 0 CFH 3075 broad.mit.edu 37 1 196643001 196643001 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:196643001C>G ENST00000367429.4 + 3 499 c.259C>G c.(259-261)Cat>Gat p.H87D CFH_ENST00000439155.2_Missense_Mutation_p.H87D|CFH_ENST00000359637.2_Missense_Mutation_p.H87D NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 87 Sushi 2. 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 GCCCTGTGGACATCCTGGAGA 0.348000 13 66 0 0 0.002450 0 0 KDM4E 390245 broad.mit.edu 37 11 94759534 94759534 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:94759534C>T ENST00000450979.2 + 1 1113 c.813C>T c.(811-813)acC>acT p.T271T NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 271 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 TCATGGTGACCTTTCCCTATG 0.502000 11 33 0 0 0.010729 0 0 EPHB1 2047 broad.mit.edu 37 3 134911548 134911548 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:134911548C>G ENST00000398015.3 + 11 2383 c.2013C>G c.(2011-2013)atC>atG p.I671M EPHB1_ENST00000493838.1_Missense_Mutation_p.I232M NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 671 Protein kinase. 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 AGGCGAGCATCATGGGCCAGT 0.542000 10 33 0 0 0.001368 0 0 CACNA2D1 781 broad.mit.edu 37 7 81693628 81693628 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:81693628C>A ENST00000356860.3 - 9 1109 c.771G>T c.(769-771)ctG>ctT p.L257L CACNA2D1_ENST00000423588.1_Silent_p.L257L|CACNA2D1_ENST00000356253.5_Silent_p.L257L NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 257 VWFA. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ACACATCCACCAGAATAAGCA 0.328000 9 7 3.86212e-05 4.32502e-05 0.008291 1 0 BOD1L1 259282 broad.mit.edu 37 4 13603773 13603773 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:13603773G>A ENST00000040738.5 - 10 4886 c.4751C>T c.(4750-4752)aCt>aTt p.T1584I NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1584 DNA binding AGCAAAAACAGTGCATTCACT 0.483000 10 26 0 0 0.008291 0 0 CLPB 81570 broad.mit.edu 37 11 72012963 72012963 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:72012963C>A ENST00000294053.3 - 12 1476 c.1303G>T c.(1303-1305)Gag>Tag p.E435* CLPB_ENST00000538021.1_Nonsense_Mutation_p.E43*|CLPB_ENST00000340729.5_Nonsense_Mutation_p.E376*|CLPB_ENST00000543042.1_Nonsense_Mutation_p.E234*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.E390*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.E405* NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 435 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGGCCACCCTCCTCATGGCCA 0.512000 59 77 2.44813e-32 4.5953e-32 0.003610 1 0 RASGRP2 10235 broad.mit.edu 37 11 64503016 64503016 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:64503016C>G ENST00000377494.1 - 10 2216 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q RASGRP2_ENST00000394432.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000377497.3_Missense_Mutation_p.E432Q Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 432 EF-hand 1. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAGCTCACCTCCACCATCTTC 0.647000 27 31 0 0 0.008361 0 0 PTPRF 5792 broad.mit.edu 37 1 44086827 44086827 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:44086827G>T ENST00000359947.4 + 33 5919 c.5579G>T c.(5578-5580)cGc>cTc p.R1860L PTPRF_ENST00000422171.2_Missense_Mutation_p.R1219L|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1851L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1851L|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1860L|PTPRF_ENST00000496447.1_3'UTR NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1860 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) GAGCGCATGCGCTACGAGGGC 0.617000 157 17 1.01513e-63 2.03027e-63 0.003610 1 0 DCST1 149095 broad.mit.edu 37 1 155019788 155019788 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:155019788C>A ENST00000295542.1 + 14 1708 c.1612_splice c.e14+1 p.P538_splice DCST1_ENST00000368419.2_Splice_Site_p.P538_splice|DCST1_ENST00000392480.1_Splice_Site_p.P538_splice|DCST1_ENST00000423025.2_Splice_Site_p.P513_splice NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 538 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AAACAACATGCGTGAGTGATG 0.547000 27 42 7.41945e-09 9.45942e-09 0.005443 1 0 PHLDB2 90102 broad.mit.edu 37 3 111603476 111603476 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:111603476C>T ENST00000431670.2 + 2 963 c.552C>T c.(550-552)tcC>tcT p.S184S PHLDB2_ENST00000393925.3_Silent_p.S184S|PHLDB2_ENST00000393923.3_Silent_p.S211S|PHLDB2_ENST00000481953.1_Silent_p.S184S|PHLDB2_ENST00000412622.1_Silent_p.S184S|PHLDB2_ENST00000477695.1_Silent_p.S184S|PHLDB2_ENST00000478922.1_Silent_p.S184S NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 184 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 ATGGAAGTTCCCTGAGTGATG 0.552000 28 56 0 0 0.005443 0 0 RBM24 221662 broad.mit.edu 37 6 17292138 17292138 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:17292138G>A ENST00000379052.5 + 4 735 c.499G>A c.(499-501)Gcc>Acc p.A167T RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Missense_Mutation_p.A122T|RBM24_ENST00000425446.2_Missense_Mutation_p.A109T NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 167 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) tgctgctgctgccgccgccgc 0.602000 15 27 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179592014 179592014 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179592014C>T ENST00000589042.1 - 69 20302 c.20078G>A c.(20077-20079)gGa>gAa p.G6693E TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5449E|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G6376E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6376 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G5449V(1) 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) TTCTGGGGATCCAGCTATCTT 0.418000 10 33 0 0 0.008291 0 0 FGFR4 2264 broad.mit.edu 37 5 176517421 176517421 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:176517421A>T ENST00000292408.4 + 3 367 c.122A>T c.(121-123)cAa>cTa p.Q41L FGFR4_ENST00000393648.2_Missense_Mutation_p.Q41L|FGFR4_ENST00000393637.1_Missense_Mutation_p.Q41L|FGFR4_ENST00000292410.3_Missense_Mutation_p.Q41L|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q41L NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 41 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CTGGAGCAGCAAGAGCAGGAG 0.657000 TSP Lung(9;0.080) 23 7 0 0 0.002299 0 0 EPHA3 2042 broad.mit.edu 37 3 89391033 89391033 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:89391033G>T ENST00000336596.2 + 5 1324 c.1099G>T c.(1099-1101)Ggg>Tgg p.G367W EPHA3_ENST00000494014.1_Missense_Mutation_p.G367W|EPHA3_ENST00000452448.2_Missense_Mutation_p.G367W NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 367 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TAAAAAATGTGGGTGGAATAT 0.483000 TSP Lung(6;0.00050) 19 33 2.39187e-15 3.6431e-15 0.008871 1 0 NUMBL 9253 broad.mit.edu 37 19 41179275 41179275 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:41179275C>T ENST00000252891.4 - 8 1177 c.1010G>A c.(1009-1011)cGc>cAc p.R337H NUMBL_ENST00000540131.1_Missense_Mutation_p.R296H|NUMBL_ENST00000598779.1_Missense_Mutation_p.R296H NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 337 cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) GAAGTCAGTGCGGCGCTGCAG 0.607000 9 13 0 0 0.001855 0 0 LYAR 55646 broad.mit.edu 37 4 4276138 4276138 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:4276138T>A ENST00000343470.4 - 7 1028 c.788A>T c.(787-789)gAg>gTg p.E263V LYAR_ENST00000452476.1_Missense_Mutation_p.E263V NM_017816.2 NP_060286.1 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 263 Lys-rich. nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CACGTGTGCCTCTTCCTCACT 0.582000 92 141 0 0 0.003610 0 0 TTC8 123016 broad.mit.edu 37 14 89337958 89337958 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:89337958A>G ENST00000338104.6 + 12 1215 c.1163A>G c.(1162-1164)tAt>tGt p.Y388C TTC8_ENST00000536576.1_Missense_Mutation_p.Y133C|TTC8_ENST00000358622.5_Missense_Mutation_p.Y174C|TTC8_ENST00000380656.2_Missense_Mutation_p.Y372C|TTC8_ENST00000354441.6_Missense_Mutation_p.Y107C|TTC8_ENST00000345383.5_Missense_Mutation_p.Y362C|TTC8_ENST00000346301.4_Missense_Mutation_p.Y332C Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 398 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGTTGCTTCTATGCCCAGCAG 0.448000 11 38 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179429977 179429977 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:179429977G>T ENST00000589042.1 - 326 81106 c.80882C>A c.(80881-80883)gCa>gAa p.A26961E TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18021E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A24393E|TTN_ENST00000342175.6_Missense_Mutation_p.A18088E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A17896E|TTN_ENST00000591111.1_Missense_Mutation_p.A25320E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25320 Fibronectin type-III 96. 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) ATTTTCTGTTGCTGTGCCTGC 0.413000 29 99 2.12542e-12 2.98991e-12 0.006320 1 0 OR4A5 81318 broad.mit.edu 37 11 51412250 51412250 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:51412250G>T ENST00000319760.6 - 1 198 c.146C>A c.(145-147)gCc>gAc p.A49D NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 49 IA -> FS (in Ref. 1; BAC05754). 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) GGAAGGGCTGGCAATAATATC 0.438000 13 33 9.31168e-06 1.07251e-05 0.001855 1 0 SLC4A3 6508 broad.mit.edu 37 2 220497732 220497732 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:220497732G>T ENST00000358055.3 + 9 1789 c.e9+1 SLC4A3_ENST00000373762.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site|SLC4A3_ENST00000317151.3_Splice_Site P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAAGCACAGGTGCCGGGGTG 0.622000 28 17 1.75199e-13 2.52706e-13 0.007291 1 0 NFKBIZ 64332 broad.mit.edu 37 3 101573503 101573503 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:101573503G>T ENST00000326172.5 + 6 1534 c.1419G>T c.(1417-1419)ctG>ctT p.L473L NFKBIZ_ENST00000394054.2_Silent_p.L373L|NFKBIZ_ENST00000326151.5_Silent_p.L351L NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 473 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TTCACATGCTGGATATTAAAG 0.463000 8 57 0.000157383 0.000171941 0.003080 1 0 APOB 338 broad.mit.edu 37 2 21230991 21230991 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:21230991C>T ENST00000233242.1 - 26 8876 c.8749G>A c.(8749-8751)Ggc>Agc p.G2917S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2917 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) GCTATGTGGCCAGCTTTCAAC 0.458000 34 108 0 0 0.003755 0 0 SYT4 6860 broad.mit.edu 37 18 40850516 40850516 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:40850516C>A ENST00000255224.3 - 4 1436 c.1068G>T c.(1066-1068)gaG>gaT p.E356D SYT4_ENST00000586678.1_5'UTR|SYT4_ENST00000590752.1_Missense_Mutation_p.E338D NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 356 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AGACAAACAGCTCATTGAACA 0.428000 34 34 8.16721e-17 1.28945e-16 0.010818 1 0 TBL2 26608 broad.mit.edu 37 7 72984917 72984917 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:72984917C>A ENST00000305632.5 - 7 1505 c.1264G>T c.(1264-1266)Gag>Tag p.E422* TBL2_ENST00000432538.1_Nonsense_Mutation_p.E386*|TBL2_ENST00000459913.1_5'UTR NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 422 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CGGGTGCTCTCGTTGGAGGCC 0.677000 7 9 2.0095e-06 2.38926e-06 0.001984 1 0 GMPS 8833 broad.mit.edu 37 3 155611422 155611422 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:155611422T>A ENST00000496455.1 + 2 478 c.143T>A c.(142-144)cTg>cAg p.L48Q GMPS_ENST00000295920.7_Intron NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 48 Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGAGGGAACTGTTCGTGCAG 0.458000 T MLL AML 15 10 0 0 0.002450 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1147325 1147325 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:1147325C>A ENST00000379236.3 - 5 635 c.631G>T c.(631-633)Ggg>Tgg p.G211W NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 211 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCTTACCCCCGGGGACCTCC 0.736000 12 5 5.50884e-06 6.38617e-06 0.001368 1 0 GAL3ST3 89792 broad.mit.edu 37 11 65812812 65812812 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:65812812T>A ENST00000312006.4 - 2 356 c.75A>T c.(73-75)ctA>ctT p.L25L GAL3ST3_ENST00000527878.1_Silent_p.L25L NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 25 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 TGCTGCACCCTAGCACCAGCA 0.677000 OREG0021093 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 14 0 0 0.006214 0 0 MST1 4485 broad.mit.edu 37 3 49721622 49721622 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:49721622C>T ENST00000449682.2 - 18 2378 c.2016_splice c.e18-1 p.G673_splice NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 659 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CCGTAGTCACCCTGGCAGGTA 0.567000 4 20 0 0 0.006122 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378522 113378522 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:113378522C>T ENST00000316407.4 - 7 2417 c.2007G>A c.(2005-2007)caG>caA p.Q669Q KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.Q669Q NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 669 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AAGCAAAGAGCTGTCCATTTA 0.398000 31 69 0 0 0.009535 0 0 GREB1 9687 broad.mit.edu 37 2 11696778 11696778 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:11696778G>C ENST00000381486.2 + 2 338 c.38G>C c.(37-39)cGc>cCc p.R13P GREB1_ENST00000263834.5_Missense_Mutation_p.R13P|GREB1_ENST00000381483.2_Missense_Mutation_p.R13P|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000234142.5_Missense_Mutation_p.R13P NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 13 integral to membrane p.R13H(3) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AAGACGACACGCTTTGAAGAG 0.517000 14 87 0 0 0.001855 0 0 ENDOU 8909 broad.mit.edu 37 12 48107062 48107062 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:48107062G>T ENST00000422538.3 - 7 983 c.861C>A c.(859-861)ttC>ttA p.F287L ENDOU_ENST00000542202.1_Missense_Mutation_p.F53L|ENDOU_ENST00000545824.2_Missense_Mutation_p.F224L|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.F246L NM_001172439.1 NP_001165910.1 P21128 ENDOU_HUMAN endonuclease, polyU-specific 287 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity p.F246L(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 TCCCACCTGAGAAGACATGTT 0.498000 39 68 1.15505e-17 1.86356e-17 0.009718 1 0 EVX2 344191 broad.mit.edu 37 2 176945402 176945402 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:176945402C>T ENST00000308618.4 - 3 1000 c.864G>A c.(862-864)ccG>ccA p.P288P NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 288 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGCCCACGTGCGGGTAGTAGT 0.711000 15 20 0 0 0.002450 0 0 NNT 23530 broad.mit.edu 37 5 43675653 43675653 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:43675653A>G ENST00000264663.5 + 18 2896 c.2675A>G c.(2674-2676)tAt>tGt p.Y892C NNT_ENST00000512996.2_Missense_Mutation_p.Y761C|NNT_ENST00000344920.4_Missense_Mutation_p.Y892C NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 892 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CTTGGAGGCTATGGCACCACT 0.418000 9 52 0 0 0.006214 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366666 40366666 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:40366666G>T ENST00000406785.1 - 7 2501 c.2312C>A c.(2311-2313)tCc>tAc p.S771Y SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S802Y|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542024.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S802Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S807Y|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S807Y|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S799Y|SLC8A1-AS1_ENST00000444629.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 807 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CATGAGGATGGAGACAATGAA 0.502000 31 24 8.58068e-18 1.3862e-17 0.007291 1 0 GEN1 348654 broad.mit.edu 37 2 17963153 17963153 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:17963153G>T ENST00000381254.2 + 14 2888 c.2674G>T c.(2674-2676)Gat>Tat p.D892Y GEN1_ENST00000317402.7_Missense_Mutation_p.D892Y|SMC6_ENST00000402989.1_Intron NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 892 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TACTTGTTTGGATAGCCCTCT 0.338000 Homologous recombination 16 33 2.23348e-06 2.64553e-06 0.004007 1 0 RAD51AP1 10635 broad.mit.edu 37 12 4662196 4662196 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:4662196G>A ENST00000228843.9 + 8 705 c.655G>A c.(655-657)Gac>Aac p.D219N RAD51AP1_ENST00000321524.7_Missense_Mutation_p.D219N|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D84N|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D202N|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.D202N|RAD51AP1_ENST00000544931.1_3'UTR NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 219 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TGAGGATAATGACGAAGACTT 0.313000 10 38 0 0 0.010729 0 0 CACNA1E 777 broad.mit.edu 37 1 181767574 181767574 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:181767574C>T ENST00000526775.1 + 46 6525 c.6360C>T c.(6358-6360)atC>atT p.I2120I CACNA1E_ENST00000367567.4_Silent_p.I1746I|CACNA1E_ENST00000367573.2_Silent_p.I2182I|CACNA1E_ENST00000367570.1_Silent_p.I2139I|CACNA1E_ENST00000357570.5_Silent_p.I2133I|CACNA1E_ENST00000358338.5_Silent_p.I2071I|CACNA1E_ENST00000360108.3_Silent_p.I2163I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2182 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CGGGCAGCATCTCTCCACCTG 0.637000 42 40 0 0 0.008740 0 0 TLR10 81793 broad.mit.edu 37 4 38776612 38776612 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:38776612G>T ENST00000308973.4 - 4 1205 c.600C>A c.(598-600)gaC>gaA p.D200E TLR10_ENST00000506111.1_Missense_Mutation_p.D200E|TLR10_ENST00000508334.1_Missense_Mutation_p.D200E|TLR10_ENST00000361424.2_Missense_Mutation_p.D200E NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 200 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 AGAAATTTGTGTCCATTGGTA 0.343000 38 20 4.92203e-23 8.55886e-23 0.006230 1 0 ADAM23 8745 broad.mit.edu 37 2 207414883 207414883 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:207414883C>T ENST00000264377.3 + 9 1260 c.933_splice c.e9+1 p.T311_splice ADAM23_ENST00000374415.3_Splice_Site_p.T311_splice|ADAM23_ENST00000374416.1_Splice_Site_p.T311_splice NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 311 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GATCACAAAACGGTAAGAATA 0.279000 5 23 0 0 0.000602 0 0 CCDC50 152137 broad.mit.edu 37 3 191092871 191092871 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:191092871G>T ENST00000392456.3 + 6 1059 c.469G>T c.(469-471)Gcc>Tcc p.A157S CCDC50_ENST00000392455.3_Intron NM_178335.2 NP_848018.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 153 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) GTCAAGGAGGGCCAGGGAATT 0.448000 9 24 9.70103e-10 1.26255e-09 0.008291 1 0 DST 667 broad.mit.edu 37 6 56373489 56373489 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:56373489C>A ENST00000370754.5 - 75 18983 c.18984G>T c.(18982-18984)gaG>gaT p.E6328D DST_ENST00000370769.4_Missense_Mutation_p.E6150D|DST_ENST00000361203.3_Missense_Mutation_p.E6039D|DST_ENST00000244364.6_Missense_Mutation_p.E3736D|DST_ENST00000421834.2_Missense_Mutation_p.E4062D|DST_ENST00000370788.2_Missense_Mutation_p.E3953D|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.E5824D|DST_ENST00000340834.4_5'UTR Q03001 DYST_HUMAN dystonin 6148 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGGCTTCCCTCTCTTCCACCA 0.413000 19 50 9.7654e-05 0.000108006 0.007413 1 0 MROH7 374977 broad.mit.edu 37 1 55119634 55119634 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:55119634C>A ENST00000414150.2 + 3 1313 c.1035C>A c.(1033-1035)ttC>ttA p.F345L MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.F345L|MROH7_ENST00000339553.5_Missense_Mutation_p.F345L|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.F345L|MROH7_ENST00000545244.1_Intron maestro heat-like repeat family member 7 GCCTCCTGTTCAGCGACACCT 0.567000 15 32 3.27435e-08 4.09539e-08 0.002450 1 0 FLNC 2318 broad.mit.edu 37 7 128491636 128491636 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:128491636C>T ENST00000325888.8 + 35 6057 c.5796C>T c.(5794-5796)ttC>ttT p.F1932F FLNC_ENST00000346177.6_Silent_p.F1899F|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1932 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 TCGTGCGCTTCGATGACAAGC 0.577000 14 59 0 0 0.001855 0 0 CCL15 6359 broad.mit.edu 37 17 34325410 34325410 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:34325410C>T ENST00000354059.4 - 3 706 c.154G>A c.(154-156)Gac>Aac p.D52N CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.D52N|CCL14_ENST00000536149.1_5'UTR NM_032965.4 NP_116741.1 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 52 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTGCAGCAGTCAGCAGCAAAG 0.493000 3 9 0 0 0.009096 0 0 ATP13A2 23400 broad.mit.edu 37 1 17323579 17323579 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:17323579C>A ENST00000452699.1 - 12 1305 c.1116G>T c.(1114-1116)ggG>ggT p.G372G ATP13A2_ENST00000326735.8_Silent_p.G377G|ATP13A2_ENST00000502860.1_5'UTR|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.G372G NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 377 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGATGAGGGTCCCGCAGAAGA 0.662000 43 23 2.95478e-19 4.89336e-19 0.008740 1 0 OR6Y1 391112 broad.mit.edu 37 1 158516949 158516949 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:158516949C>A ENST00000302617.3 - 1 946 c.947G>T c.(946-948)gGg>gTg p.G316V NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 316 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) TCCCTGGGGCCCACTTCCTCT 0.453000 22 35 3.8784e-16 6.06212e-16 0.012319 1 0 ABI3BP 25890 broad.mit.edu 37 3 100617622 100617622 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:100617622G>A ENST00000471714.1 - 4 575 c.466C>T c.(466-468)Cac>Tac p.H156Y ABI3BP_ENST00000495063.1_Missense_Mutation_p.H156Y|ABI3BP_ENST00000284322.5_Missense_Mutation_p.H156Y Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 156 Fibronectin type-III 1. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTGGGACAGTGACTTGGCAAT 0.453000 12 63 0 0 0.010729 0 0 PROX1 5629 broad.mit.edu 37 1 214171498 214171498 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:214171498A>G ENST00000366958.4 + 2 2228 c.1620A>G c.(1618-1620)ccA>ccG p.P540P PROX1_ENST00000261454.4_Silent_p.P540P|PROX1_ENST00000435016.1_Silent_p.P540P|PROX1_ENST00000498508.2_Silent_p.P540P NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 540 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding p.P540P(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTTGTTCACCAGCACACCCGC 0.522000 24 48 0 0 0.002299 0 0 DNAAF2 55172 broad.mit.edu 37 14 50092641 50092641 + Silent SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:50092641A>C ENST00000298292.8 - 3 2213 c.2133T>G c.(2131-2133)tcT>tcG p.S711S DNAAF2_ENST00000406043.3_Silent_p.S663S NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 711 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 TAACTGCTATAGATGAATCAG 0.343000 3 15 0 0 0.004672 0 0 AIFM3 150209 broad.mit.edu 37 22 21327772 21327772 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:21327772G>T ENST00000399167.2 + 3 448 c.208G>T c.(208-210)Gct>Tct p.A70S AIFM3_ENST00000335375.5_Missense_Mutation_p.R94S|AIFM3_ENST00000399163.2_Missense_Mutation_p.A70S|AIFM3_ENST00000333607.6_Missense_Mutation_p.A70S|AIFM3_ENST00000405089.1_Missense_Mutation_p.A76S|AIFM3_ENST00000440238.2_Missense_Mutation_p.A70S 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) TTGCGTGGAGGCTGCTGTCTG 0.692000 43 19 2.56662e-36 4.90596e-36 0.013114 1 0 PRUNE2 158471 broad.mit.edu 37 9 79324793 79324793 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:79324793G>C ENST00000428286.1 - 8 2520 c.1320C>G c.(1318-1320)gcC>gcG p.A440A PRUNE2_ENST00000376718.3_Silent_p.A799A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 799 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATGCACTCCAGGCTGGGAATG 0.507000 18 6 0 0 0.004990 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267011 66267011 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:66267011G>T ENST00000327268.4 - 6 1454 c.1290C>A c.(1288-1290)agC>agA p.S430R ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.S430R NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 430 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GTCCTGCTATGCTCTGAATGA 0.463000 14 45 1.3612e-06 1.62928e-06 0.003163 1 0 GOLGA3 2802 broad.mit.edu 37 12 133354252 133354252 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:133354252T>A ENST00000204726.3 - 19 4280 c.3722_splice c.e19+1 p.Q1241_splice GOLGA3_ENST00000450791.2_Splice_Site_p.Q1241_splice|GOLGA3_ENST00000456883.2_Splice_Site_p.Q1241_splice NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1241 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) AGGCACTCACTGAAGGTCGTC 0.597000 29 42 0 0 0.008361 0 0 TMEM119 338773 broad.mit.edu 37 12 108985685 108985685 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:108985685C>T ENST00000392806.3 - 2 643 c.475G>A c.(475-477)Gac>Aac p.D159N NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 159 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GGCCTGCTGTCGGGGGCTCTG 0.677000 13 26 0 0 0.002450 0 0 KCNIP4 80333 broad.mit.edu 37 4 21950327 21950327 + Translation_Start_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:21950327C>T ENST00000382152.2 - 0 95 KCNIP4_ENST00000447367.2_De_novo_Start_OutOfFrame NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 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) CGGGTCTGCACGGGAGCGCAC 0.716000 4 8 0 0 0.009096 0 0 ORAOV1 220064 broad.mit.edu 37 11 69488079 69488079 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:69488079C>A ENST00000279147.4 - 2 168 c.61G>T c.(61-63)Gaa>Taa p.E21* ORAOV1_ENST00000535657.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000539414.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000536870.1_Intron|ORAOV1_ENST00000542341.1_Nonsense_Mutation_p.E21* NM_153451.2 NP_703152.1 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 21 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CGATACCCTTCCCCATGAAAC 0.483000 26 94 6.36457e-07 7.72885e-07 0.003954 1 0 PITX2 5308 broad.mit.edu 37 4 111539292 111539292 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:111539292G>A ENST00000354925.2 - 7 2648 c.943C>T c.(943-945)Cgg>Tgg p.R315W PITX2_ENST00000394598.2_Missense_Mutation_p.R315W|PITX2_ENST00000394595.3_3'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.R322W|PITX2_ENST00000355080.5_Missense_Mutation_p.R269W NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 315 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.R315R(1)|p.R322R(1) breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CACACGGGCCGGTCCACTGCA 0.622000 29 8 0 0 0.006320 0 0 CPS1 1373 broad.mit.edu 37 2 211476930 211476930 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:211476930C>T ENST00000233072.5 + 20 2677 c.2481C>T c.(2479-2481)ctC>ctT p.L827L CPS1_ENST00000451903.2_Silent_p.L376L|CPS1_ENST00000430249.2_Silent_p.L833L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 827 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) CTCCCCGTCTCCCAATGAACA 0.433000 18 45 0 0 0.004990 0 0 CXCR1 3577 broad.mit.edu 37 2 219029096 219029096 + Missense_Mutation SNP C C T rs140728083 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:219029096C>T ENST00000295683.2 - 2 959 c.839G>A c.(838-840)cGc>cAc p.R280H NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 280 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GATGTTGTTGCGGCGCTCACA 0.577000 12 68 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9088849 9088849 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:9088849G>T ENST00000397910.4 - 1 3169 c.2966C>A c.(2965-2967)gCc>gAc p.A989D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 989 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 GAGAGAAGTGGCAGAGGTTGA 0.463000 67 101 2.19297e-23 3.8357e-23 0.003610 1 0 CDK15 65061 broad.mit.edu 37 2 202712183 202712183 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:202712183G>A ENST00000450471.2 + 9 1017 c.931G>A c.(931-933)Gag>Aag p.E311K CDK15_ENST00000434439.1_Missense_Mutation_p.E311K|CDK15_ENST00000374598.4_Missense_Mutation_p.E311K|CDK15_ENST00000410091.3_Missense_Mutation_p.E260K|CDK15_ENST00000260967.2_Missense_Mutation_p.E260K|CDK15_ENST00000488419.1_3'UTR NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 311 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) TGAACAGCTGGAGAAAATCTG 0.383000 22 51 0 0 0.002780 0 0 MUC17 140453 broad.mit.edu 37 7 100686270 100686270 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:100686270C>T ENST00000306151.4 + 3 11637 c.11573C>T c.(11572-11574)cCt>cTt p.P3858L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3858 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCTCCATACCTGCTGAAGTC 0.478000 55 40 0 0 0.003610 0 0 LRTM1 57408 broad.mit.edu 37 3 54959164 54959164 + Nonsense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:54959164G>C ENST00000273286.5 - 2 248 c.86C>G c.(85-87)tCa>tGa p.S29* CACNA2D3_ENST00000474759.1_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 29 LRRNT. 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) ATTTGTAGATGACTGACAGTA 0.463000 12 1 0 0 0.010729 0 0 SULF1 23213 broad.mit.edu 37 8 70540099 70540099 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:70540099A>C ENST00000260128.4 + 17 2757 c.2040A>C c.(2038-2040)caA>caC p.Q680H SULF1_ENST00000402687.4_Missense_Mutation_p.Q680H|SULF1_ENST00000419716.3_Missense_Mutation_p.Q680H|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Missense_Mutation_p.Q680H NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 680 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) GCAGTAAACAAAGGTGAGCTT 0.408000 86 59 0 0 0.003610 0 0 PRRC2B 84726 broad.mit.edu 37 9 134371220 134371220 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:134371220A>G ENST00000357304.4 + 31 6704 c.6649A>G c.(6649-6651)Atc>Gtc p.I2217V PRRC2B_ENST00000405995.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000458550.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000465931.1_3'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2217 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 AACCGGAGCGATCAAGCCTCG 0.632000 13 5 0 0 0.001368 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233928 61233928 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:61233928G>T ENST00000382768.1 + 7 962 c.962G>T c.(961-963)cGg>cTg p.R321L SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 301 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TCCTTCCCCCGGTTCACCCTG 0.448000 180 49 3.55815e-84 7.15057e-84 0.003610 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120298883 120298883 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:120298883C>T ENST00000397843.2 + 8 678 c.512C>T c.(511-513)cCc>cTc p.P171L ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P152L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P68L NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 171 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.P171L(1) NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CATATGTCTCCCATCATGACA 0.498000 T MLL AML 73 60 0 0 0.003610 0 0 PRDM10 56980 broad.mit.edu 37 11 129775622 129775622 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:129775622T>C ENST00000358825.5 - 21 3421 c.3190A>G c.(3190-3192)Atg>Gtg p.M1064V PRDM10_ENST00000360871.3_Missense_Mutation_p.M1060V|PRDM10_ENST00000304538.6_Missense_Mutation_p.M927V|PRDM10_ENST00000526082.1_Missense_Mutation_p.M978V|PRDM10_ENST00000423662.2_Missense_Mutation_p.M965V|PRDM10_ENST00000528746.1_Missense_Mutation_p.M1021V NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1051 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGCGTCATCATTTGAATCTCA 0.433000 22 12 0 0 0.012319 0 0 TRIP6 7205 broad.mit.edu 37 7 100469167 100469167 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:100469167C>A ENST00000200457.4 + 7 1362 c.1002C>A c.(1000-1002)gcC>gcA p.A334A NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 334 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCAACAGGCCACCCTGGAGA 0.627000 25 24 9.39395e-14 1.37558e-13 0.006320 1 0 VCPIP1 80124 broad.mit.edu 37 8 67547476 67547476 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:67547476C>A ENST00000310421.4 - 3 3187 c.2929G>T c.(2929-2931)Gat>Tat p.D977Y NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 977 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TTAACTAAATCTTCAACATCA 0.443000 64 160 8.73484e-25 1.55562e-24 0.003610 1 0 ANKRD17 26057 broad.mit.edu 37 4 74021863 74021863 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:74021863C>A ENST00000358602.4 - 4 841 c.725G>T c.(724-726)tGt>tTt p.C242F ANKRD17_ENST00000509867.2_Missense_Mutation_p.C129F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.C242F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 242 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCTTCTGAACAGGCTTCTGC 0.378000 14 6 2.31682e-05 2.62266e-05 0.003163 1 0 SETBP1 26040 broad.mit.edu 37 18 42531132 42531132 + Silent SNP C C G rs140403091 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:42531132C>G ENST00000282030.5 + 4 2123 c.1827C>G c.(1825-1827)ccC>ccG p.P609P NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 609 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) CCACCAGCCCCGTCAGTCCCA 0.532000 Schinzel-Giedion syndrome 30 40 0 0 0.007291 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219734 4219734 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:4219734G>T ENST00000600132.1 + 19 3426 c.3150G>T c.(3148-3150)aaG>aaT p.K1050N ANKRD24_ENST00000262970.5_Missense_Mutation_p.K1140N|ANKRD24_ENST00000318934.4_Missense_Mutation_p.K1050N NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1050 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CTCTGGACAAGGCCAAGGAGA 0.647000 35 11 4.65686e-17 7.38024e-17 0.003755 1 0 PTPRM 5797 broad.mit.edu 37 18 8253261 8253261 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:8253261T>A ENST00000332175.8 + 17 3601 c.2564T>A c.(2563-2565)cTg>cAg p.L855Q PTPRM_ENST00000580170.1_Missense_Mutation_p.L868Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.L642Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.L793Q|PTPRM_ENST00000400060.4_Missense_Mutation_p.L869Q NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 855 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) ACCAGCAGCCTGGTGCAGTCC 0.592000 7 10 0 0 0.001984 0 0 USH2A 7399 broad.mit.edu 37 1 215853675 215853675 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:215853675G>T ENST00000366943.2 - 62 12496 c.12110C>A c.(12109-12111)aCa>aAa p.T4037K USH2A_ENST00000307340.3_Missense_Mutation_p.T4037K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4037 Fibronectin type-III 25. 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) GCGATATGTTGTGAATGGTTC 0.398000 HNSCC(13;0.011) 29 59 6.90743e-12 9.54536e-12 0.003755 1 0 ZFX 7543 broad.mit.edu 37 X 24228809 24228809 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:24228809C>T ENST00000379177.1 + 11 2161 c.1734C>T c.(1732-1734)tgC>tgT p.C578C ZFX_ENST00000338565.3_Silent_p.C528C|ZFX_ENST00000304543.5_Silent_p.C578C|ZFX_ENST00000540034.1_Silent_p.C617C|ZFX_ENST00000539115.1_Silent_p.C349C|ZFX_ENST00000379188.3_Silent_p.C578C NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CGTACCAATGCCAGTACTGCG 0.433000 45 16 0 0 0.011902 0 0 RPL31P11 641311 broad.mit.edu 37 1 161654835 161654835 + RNA SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:161654835C>G ENST00000426558.1 - 0 207 NR_002595.1 GTTCCCATCTCCTTCATGCCA 0.512000 11 8 0 0 0.010729 0 0 DYTN 391475 broad.mit.edu 37 2 207516619 207516619 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:207516619G>A ENST00000452335.2 - 12 1776 c.1660C>T c.(1660-1662)Ctg>Ttg p.L554L NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 554 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CCACTGTACAGGTCCATGTTT 0.463000 17 31 0 0 0.004990 0 0 TRPS1 7227 broad.mit.edu 37 8 116631772 116631772 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:116631772C>A ENST00000395715.3 - 3 1130 c.553G>T c.(553-555)Gcc>Tcc p.A185S TRPS1_ENST00000520276.1_Missense_Mutation_p.A176S|TRPS1_ENST00000519674.1_Missense_Mutation_p.A172S|TRPS1_ENST00000519076.1_Missense_Mutation_p.A126S|TRPS1_ENST00000220888.5_Missense_Mutation_p.A172S NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 172 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGACAATTGGCTTGACCACTC 0.488000 Langer-Giedion syndrome 48 129 8.72198e-27 1.57802e-26 0.003610 1 0 ACO1 48 broad.mit.edu 37 9 32430486 32430486 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:32430486G>A ENST00000379923.1 + 15 1846 c.1640G>A c.(1639-1641)cGg>cAg p.R547Q ACO1_ENST00000541043.1_Missense_Mutation_p.R448Q|ACO1_ENST00000309951.5_Missense_Mutation_p.R547Q NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 547 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CCCAACACCCGGGCCAACTAT 0.448000 21 58 0 0 0.012319 0 0 CACNA1C 775 broad.mit.edu 37 12 2705067 2705067 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:2705067C>T ENST00000399655.1 + 20 2956 c.2691C>T c.(2689-2691)gtC>gtT p.V897V CACNA1C_ENST00000335762.5_Silent_p.V922V|CACNA1C_ENST00000399641.1_Silent_p.V897V|CACNA1C_ENST00000327702.7_Silent_p.V897V|CACNA1C_ENST00000399629.1_Silent_p.V897V|CACNA1C_ENST00000399601.1_Silent_p.V897V|CACNA1C_ENST00000344100.3_Silent_p.V897V|CACNA1C_ENST00000402845.3_Silent_p.V897V|CACNA1C_ENST00000399638.1_Silent_p.V897V|CACNA1C_ENST00000399595.1_Silent_p.V897V|CACNA1C_ENST00000399606.1_Silent_p.V897V|CACNA1C_ENST00000347598.4_Silent_p.V897V|CACNA1C_ENST00000399634.1_Silent_p.V897V|CACNA1C_ENST00000399649.1_Silent_p.V897V|CACNA1C_ENST00000399591.1_Silent_p.V897V|CACNA1C_ENST00000399603.1_Silent_p.V897V|CACNA1C_ENST00000399617.1_Silent_p.V897V|CACNA1C_ENST00000399637.1_Silent_p.V897V|CACNA1C_ENST00000399644.1_Silent_p.V897V|CACNA1C_ENST00000480911.1_Silent_p.V897V|CACNA1C_ENST00000399621.1_Silent_p.V897V|CACNA1C_ENST00000399597.1_Silent_p.V897V|CACNA1C_ENST00000406454.3_Silent_p.V897V 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 897 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) ACCGCATTGTCAATGACACGA 0.572000 11 69 0 0 0.008291 0 0 TGM1 7051 broad.mit.edu 37 14 24729776 24729776 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:24729776G>A ENST00000206765.6 - 4 760 c.637C>T c.(637-639)Ccc>Tcc p.P213S TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 213 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) ATGGCGTTGGGGGAAGTGTGG 0.587000 52 39 0 0 0.003610 0 0 KRT72 140807 broad.mit.edu 37 12 52981443 52981443 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:52981443G>T ENST00000293745.2 - 7 1367 c.1282C>A c.(1282-1284)Cgc>Agc p.R428S KRT72_ENST00000537672.2_Missense_Mutation_p.R428S|KRT72_ENST00000354310.4_Missense_Mutation_p.R386S|KRT72_ENST00000398066.3_Missense_Mutation_p.R240S NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 428 Coil 2.|Rod. R -> L (in dbSNP:rs11170183). keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) AGCAGCTTGCGGTAGGTGGCG 0.612000 63 82 2.89935e-36 5.53352e-36 0.003610 1 0 IQCE 23288 broad.mit.edu 37 7 2608599 2608599 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:2608599G>T ENST00000402050.2 + 3 280 c.96G>T c.(94-96)agG>agT p.R32S IQCE_ENST00000438376.2_Missense_Mutation_p.R16S|IQCE_ENST00000404984.1_Intron|IQCE_ENST00000325979.7_Intron NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 32 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) AAGCAAAAAGGAAAGCTTTCC 0.512000 27 12 1.42536e-11 1.95246e-11 0.004656 1 0 TG 7038 broad.mit.edu 37 8 134145856 134145856 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:134145856G>T ENST00000220616.4 + 47 8180 c.8140G>T c.(8140-8142)Gac>Tac p.D2714Y TG_ENST00000519543.1_Missense_Mutation_p.D847Y|TG_ENST00000377869.1_Missense_Mutation_p.D2657Y|TG_ENST00000542445.1_Missense_Mutation_p.D1084Y NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2714 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) GAAGAAAGCCGACTGCTCCTT 0.547000 10 71 0.000442599 0.00047647 0.006214 1 0 PLCH2 9651 broad.mit.edu 37 1 2435900 2435900 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:2435900C>G ENST00000419816.2 + 22 3773 c.3499C>G c.(3499-3501)Cgc>Ggc p.R1167G PLCH2_ENST00000378483.2_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1131G|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378486.3_Missense_Mutation_p.R1167G O75038 PLCH2_HUMAN phospholipase C, eta 2 1167 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGGCCTGGGCCGCAGCCGTGA 0.677000 21 45 0 0 0.008871 0 0 UNC13B 10497 broad.mit.edu 37 9 35403172 35403172 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:35403172G>T ENST00000378495.3 + 37 4468 c.4246G>T c.(4246-4248)Gtg>Ttg p.V1416L UNC13B_ENST00000396787.1_Missense_Mutation_p.V1447L|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1435L NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1416 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGGGTCTGGTGTGGACGATCC 0.512000 31 26 3.90053e-15 5.91218e-15 0.012213 1 0 MAGEC1 9947 broad.mit.edu 37 X 140994417 140994417 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:140994417G>C ENST00000285879.4 + 4 1513 c.1227G>C c.(1225-1227)caG>caC p.Q409H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 409 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) CTCCTCTCCAGATTCCTATGA 0.483000 HNSCC(15;0.026) 128 111 0 0 0.003610 0 0 HEATR2 54919 broad.mit.edu 37 7 803566 803566 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:803566C>T ENST00000297440.6 + 8 1758 c.1738C>T c.(1738-1740)Cac>Tac p.H580Y HEATR2_ENST00000313147.5_Missense_Mutation_p.H580Y NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 580 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CTGGACCGCACACTCGCCGGA 0.662000 27 118 0 0 0.007291 0 0 POP1 10940 broad.mit.edu 37 8 99135611 99135611 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:99135611C>T ENST00000401707.2 + 2 127 c.46C>T c.(46-48)Cag>Tag p.Q16* POP1_ENST00000349693.3_Nonsense_Mutation_p.Q16* NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 16 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AATGAGAAACCAGCCTACCAA 0.403000 7 66 0 0 0.001984 0 0 TRBV2 28620 broad.mit.edu 37 7 142001199 142001199 + RNA SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:142001199G>T ENST00000455382.2 + 0 365 TCACTCTGAAGATCCGGTCCA 0.438000 8 8 5.18039e-06 6.04459e-06 0.003080 1 0 ZIC3 7547 broad.mit.edu 37 X 136649221 136649221 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:136649221G>T ENST00000287538.5 + 1 921 c.371G>T c.(370-372)aGc>aTc p.S124I ZIC3_ENST00000370606.3_Missense_Mutation_p.S124I NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 124 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CGCCAGCGCAGCTCCGGGCTC 0.692000 6 2 0.00116845 0.00124079 0.001168 1 0 PTCH2 8643 broad.mit.edu 37 1 45292949 45292949 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:45292949A>T ENST00000447098.2 - 16 2415 c.2404T>A c.(2404-2406)Tct>Act p.S802T PTCH2_ENST00000372192.3_Missense_Mutation_p.S802T NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 802 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) ATGCGCCCAGAAGCCCAGTCC 0.632000 Basal Cell Nevus syndrome 41 37 0 0 0.009718 0 0 ZNF621 285268 broad.mit.edu 37 3 40573785 40573785 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:40573785G>T ENST00000339296.5 + 5 976 c.524G>T c.(523-525)gGg>gTg p.G175V ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.G175V|ZNF621_ENST00000431278.1_Missense_Mutation_p.G64V|ZNF621_ENST00000490457.1_Intron NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) AGTCATACTGGGGAAAAGCCC 0.403000 23 6 2.89027e-11 3.91625e-11 0.002299 1 0 TUBB1 81027 broad.mit.edu 37 20 57597947 57597947 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:57597947C>A ENST00000217133.1 + 2 374 c.105C>A c.(103-105)agC>agA p.S35R NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 35 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) TGGCTGGGAGCGACCGCGGGG 0.587000 14 36 1.5739e-10 2.08963e-10 0.004007 1 0 DPY19L2P2 349152 broad.mit.edu 37 7 102898120 102898120 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:102898120C>A ENST00000312132.4 - 0 2452 GTTTCTAGTCCAAATAAATTC 0.353000 4 38 0.00909568 0.0094583 0.009096 1 0 PAX1 5075 broad.mit.edu 37 20 21689880 21689880 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:21689880C>G ENST00000398485.2 + 4 1134 c.1080C>G c.(1078-1080)gcC>gcG p.A360A PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.A336A NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 360 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCCTCTCTGCCGTGGGCGGCT 0.697000 65 122 0 0 0.003610 0 0 C9 735 broad.mit.edu 37 5 39316073 39316073 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:39316073T>A ENST00000263408.4 - 6 769 c.674A>T c.(673-675)aAa>aTa p.K225I C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 225 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GATGATACTTTTAAATGCTTC 0.308000 7 78 0 0 0.001984 0 0 OR52I1 390037 broad.mit.edu 37 11 4615655 4615655 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:4615655C>T ENST00000450052.2 + 2 459 c.459C>T c.(457-459)gcC>gcT p.A153A OR52I1_ENST00000530443.2_Silent_p.A129A Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTATGTAGCCATCTGCAAGC 0.498000 15 32 0 0 0.012319 0 0 MYO3B 140469 broad.mit.edu 37 2 171238560 171238560 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:171238560G>T ENST00000334231.6 + 10 1033 c.1033G>T c.(1033-1035)Gtg>Ttg p.V345L MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V336L|MYO3B_ENST00000408978.4_Missense_Mutation_p.V336L Q8WXR4 MYO3B_HUMAN myosin IIIB 336 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ACCTTATCATGTGGAAGATGC 0.383000 10 41 3.86212e-05 4.32502e-05 0.008291 1 0 MXRA5 25878 broad.mit.edu 37 X 3235641 3235641 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:3235641G>T ENST00000217939.6 - 6 6235 c.6081C>A c.(6079-6081)gcC>gcA p.A2027A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2027 Ig-like C2-type 4. 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) CTGCATTGCTGGCCACGCACT 0.647000 23 14 1.64293e-13 2.37523e-13 0.003330 1 0 BTAF1 9044 broad.mit.edu 37 10 93773444 93773444 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:93773444G>T ENST00000265990.6 + 31 4640 c.4332G>T c.(4330-4332)tgG>tgT p.W1444C BTAF1_ENST00000544642.1_Missense_Mutation_p.W272C NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1444 Helicase ATP-binding. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TGGAGCTGTGGTCATTATTTG 0.383000 39 28 4.67007e-22 8.03149e-22 0.008740 1 0 PCDHA7 56141 broad.mit.edu 37 5 140216116 140216116 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:140216116G>T ENST00000525929.1 + 1 2148 c.2148G>T c.(2146-2148)ctG>ctT p.L716L PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.L716L|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACCCTGCTGCTGTACACGG 0.612000 46 12 1.23713e-20 2.07904e-20 0.003610 1 0 TENM4 26011 broad.mit.edu 37 11 78369639 78369639 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:78369639G>T ENST00000278550.7 - 34 8236 c.7774C>A c.(7774-7776)Cga>Aga p.R2592R NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.R2592*(2) GCAACCCTTCGCCCATCCTCA 0.527000 17 24 1.45105e-14 2.17051e-14 0.006122 1 0 GPR78 27201 broad.mit.edu 37 4 8588916 8588916 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:8588916C>A ENST00000382487.4 + 3 1335 c.918C>A c.(916-918)gcC>gcA p.A306A GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 306 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A306A(1) central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 AAGTCCTGGCCGGCATGGTGC 0.652000 26 13 8.24728e-16 1.2795e-15 0.004656 1 0 UBC 7316 broad.mit.edu 37 12 125396341 125396341 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:125396341T>A ENST00000536769.1 - 1 3553 c.1977A>T c.(1975-1977)gaA>gaT p.E659D UBC_ENST00000339647.5_Missense_Mutation_p.E659D|UBC_ENST00000546120.1_Missense_Mutation_p.E583D|UBC_ENST00000538617.1_Missense_Mutation_p.E279D P0CG48 UBC_HUMAN ubiquitin C 659 Ubiquitin-like 9. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGCGTCCATCTTCCAGCTGTT 0.507000 44 212 0 0 0.011902 0 0 PI15 51050 broad.mit.edu 37 8 75756325 75756325 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:75756325G>T ENST00000260113.2 + 3 562 c.383G>T c.(382-384)cGc>cTc p.R128L RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128L NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 128 extracellular region peptidase inhibitor activity p.R128H(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CTATCTGTACGCACTGGAAGG 0.408000 21 249 1.42536e-11 1.95246e-11 0.004656 1 0 HMCN1 83872 broad.mit.edu 37 1 186120336 186120336 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:186120336G>T ENST00000271588.4 + 94 14842 c.14613G>T c.(14611-14613)ggG>ggT p.G4871G HMCN1_ENST00000367492.2_Silent_p.G4871G NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4871 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAATAGGTGGGCCCCAGCGAG 0.398000 26 71 2.41591e-17 3.86496e-17 0.004656 1 0 CACNG4 27092 broad.mit.edu 37 17 65021095 65021095 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:65021095G>T ENST00000262138.3 + 3 426 c.424G>T c.(424-426)Ggc>Tgc p.G142C NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 142 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity p.G142S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) CCTCAGTGCCGGCATCCTCTT 0.662000 18 41 1.33834e-09 1.73817e-09 0.007413 1 0 CTNND2 1501 broad.mit.edu 37 5 11364904 11364904 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:11364904C>A ENST00000304623.8 - 8 1465 c.1276G>T c.(1276-1278)Gac>Tac p.D426Y CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.D426Y|CTNND2_ENST00000503622.1_Missense_Mutation_p.D89Y|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.D335Y NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 426 D -> V (in Ref. 1; AAC63103). multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding 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 TAGACGCGGTCTTCATAGATG 0.627000 194 54 9.97002e-88 2.00683e-87 0.003610 1 0 RUNX1T1 862 broad.mit.edu 37 8 92972709 92972709 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:92972709A>T ENST00000523629.1 - 12 2030 c.1576T>A c.(1576-1578)Tgc>Agc p.C526S RUNX1T1_ENST00000518844.1_Missense_Mutation_p.C499S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.C499S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.C537S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.C489S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.C526S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.C489S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.C489S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 526 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGCCACTGCAGGTTTCACTC 0.493000 11 100 0 0 0.010729 0 0 CDH20 28316 broad.mit.edu 37 18 59203799 59203799 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:59203799G>T ENST00000262717.4 + 8 1743 c.1345G>T c.(1345-1347)Gca>Tca p.A449S CDH20_ENST00000538374.1_Missense_Mutation_p.A449S|CDH20_ENST00000536675.2_Missense_Mutation_p.A449S Q9HBT6 CAD20_HUMAN cadherin 20, type 2 449 Cadherin 4. 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) CCTAATGACAGCAAGACCCCT 0.423000 48 47 1.76056e-25 3.1579e-25 0.011902 1 0 ZW10 9183 broad.mit.edu 37 11 113631282 113631282 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:113631282C>G ENST00000200135.3 - 4 517 c.373G>C c.(373-375)Gca>Cca p.A125P NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 125 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TCTGTTAATGCACAATTATAT 0.343000 20 86 0 0 0.008871 0 0 CEP350 9857 broad.mit.edu 37 1 180006120 180006120 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:180006120C>G ENST00000367607.3 + 17 4424 c.4006C>G c.(4006-4008)Ctg>Gtg p.L1336V NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1336 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ACTCAGTTATCTGAACGCCAT 0.468000 4 8 0 0 0.009096 0 0 COX5A 9377 broad.mit.edu 37 15 75221558 75221558 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:75221558C>T ENST00000322347.6 - 2 269 c.116G>A c.(115-117)cGc>cAc p.R39H COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000562233.1_Missense_Mutation_p.R39H|COX5A_ENST00000564811.1_Missense_Mutation_p.R39H|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.R39H NM_004255.3 NP_004246.2 P20674 COX5A_HUMAN cytochrome c oxidase subunit Va 39 respiratory electron transport chain mitochondrial inner membrane cytochrome-c oxidase activity|electron carrier activity|metal ion binding endometrium(1)|large_intestine(1)|pancreas(1) 3 GGAATAGCAGCGAACTGACTG 0.383000 35 34 0 0 0.004289 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47370295 47370295 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:47370295G>T ENST00000337137.4 + 9 1291 c.1125_splice c.e9+1 p.Q375_splice TBC1D22A_ENST00000406733.1_Splice_Site_p.Q328_splice|TBC1D22A_ENST00000355704.3_Splice_Site_p.Q297_splice|TBC1D22A_ENST00000407381.3_Splice_Site_p.Q316_splice NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 375 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) ATGGCATTCAGGTGAGCGCCC 0.657000 11 1 0.00010058 0.000110948 0.001368 1 0 KCNG1 3755 broad.mit.edu 37 20 49620679 49620679 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:49620679C>T ENST00000371571.4 - 3 1724 c.1439G>A c.(1438-1440)cGg>cAg p.R480Q RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 480 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CTGCGCCCTCCGGAACATCAC 0.572000 14 40 0 0 0.002450 0 0 DSC3 1825 broad.mit.edu 37 18 28587018 28587018 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:28587018A>T ENST00000434452.1 - 12 1897 c.1743T>A c.(1741-1743)taT>taA p.Y581* DSC3_ENST00000360428.4_Nonsense_Mutation_p.Y581* NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 581 Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AAATGACTACATATTCTTGAA 0.373000 27 40 0 0 0.003954 0 0 GPR125 166647 broad.mit.edu 37 4 22389609 22389609 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:22389609C>A ENST00000334304.5 - 19 3954 c.3685G>T c.(3685-3687)Gag>Tag p.E1229* GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1229 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TACTGTCTCTCTCTGTAGGCT 0.493000 20 82 1.96292e-10 2.59786e-10 0.010504 1 0 NBPF15 284565 broad.mit.edu 37 1 148594439 148594439 + Silent SNP A A G rs146739148 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:148594439A>G ENST00000442702.2 + 21 2879 c.1812A>G c.(1810-1812)ttA>ttG p.L604L NBPF15_ENST00000369187.3_Silent_p.L604L NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 604 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CTGAAGTCTTACAGGACTCAC 0.463000 10 306 0 0 0.010729 0 0 CSMD2 114784 broad.mit.edu 37 1 33992820 33992820 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:33992820C>T ENST00000373381.4 - 65 10386 c.10210G>A c.(10210-10212)Gag>Aag p.E3404K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3260 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) AGCGGTGGCTCCCGGGCAGTG 0.507000 12 35 0 0 0.001855 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995855 57995855 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:57995855C>T ENST00000316770.2 - 1 535 c.493G>A c.(493-495)Gcc>Acc p.A165T NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) AAGATTAAGGCGGTGAGCTGC 0.652000 6 22 0 0 0.001168 0 0 DYTN 391475 broad.mit.edu 37 2 207569613 207569613 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:207569613C>A ENST00000452335.2 - 5 553 c.437G>T c.(436-438)cGc>cTc p.R146L DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 146 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCGAGTCATGCGTGGCCCAGA 0.373000 4 21 0.00024832 0.000269641 0.009096 1 0 ZNF775 285971 broad.mit.edu 37 7 150093882 150093882 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:150093882G>T ENST00000329630.5 + 3 420 c.313G>T c.(313-315)Ggt>Tgt p.G105C NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCGGCGAGGGTCACTTTGT 0.687000 7 10 8.12818e-05 8.99778e-05 0.001984 1 0 NCOA2 10499 broad.mit.edu 37 8 71071833 71071833 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:71071833C>A ENST00000452400.2 - 10 1212 c.1031G>T c.(1030-1032)gGc>gTc p.G344V NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 344 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AACAAGAGTGCCATCAGACAA 0.398000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 43 130 8.69298e-16 1.34366e-15 0.006999 1 0 COL27A1 85301 broad.mit.edu 37 9 117020860 117020860 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:117020860G>T ENST00000356083.3 + 28 3572 c.3181G>T c.(3181-3183)Gca>Tca p.A1061S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1061 Collagen-like 7.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CATGAGGGGAGCAAAGGGACG 0.622000 12 6 1.15088e-07 1.42241e-07 0.004007 1 0 PZP 5858 broad.mit.edu 37 12 9312930 9312930 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:9312930G>A ENST00000261336.2 - 24 3057 c.3029C>T c.(3028-3030)gCc>gTc p.A1010V PZP_ENST00000381997.2_Missense_Mutation_p.A796V NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ATAGCCAACGGCCTTGGCCTT 0.403000 69 14 0 0 0.003610 0 0 SPOCD1 90853 broad.mit.edu 37 1 32267264 32267264 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:32267264C>T ENST00000360482.2 - 3 1555 c.e3+1 SPOCD1_ENST00000533231.1_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site|SPOCD1_ENST00000257100.3_Splice_Site NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 transcription, DNA-dependent p.?(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TAAAAACCTACGTAGCACACA 0.502000 10 50 0 0 0.006214 0 0 NAV2 89797 broad.mit.edu 37 11 19854036 19854036 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:19854036A>T ENST00000396085.1 + 2 635 c.274A>T c.(274-276)Aca>Tca p.T92S NAV2_ENST00000360655.4_Missense_Mutation_p.T28S|NAV2_ENST00000349880.4_Missense_Mutation_p.T92S|NAV2_ENST00000540292.1_Missense_Mutation_p.T23S|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000527559.2_Missense_Mutation_p.T21S|NAV2_ENST00000396087.3_Missense_Mutation_p.T92S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 92 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACAGATCTACACAGACTGGGC 0.542000 53 64 0 0 0.003610 0 0 AGPAT1 10554 broad.mit.edu 37 6 32138714 32138714 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:32138714C>A ENST00000395499.1 - 3 913 c.334_splice c.e3+1 p.G112_splice AGPAT1_ENST00000375107.3_Splice_Site_p.G112_splice|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000395496.1_Splice_Site_p.G112_splice|AGPAT1_ENST00000395497.1_Splice_Site_p.G112_splice|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375104.2_Splice_Site_p.G112_splice|AGPAT1_ENST00000336984.6_Splice_Site_p.G112_splice Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 112 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 GGGGTCTCACCAAGCAGATCG 0.587000 90 23 1.80868e-48 3.55489e-48 0.003610 1 0 SCML2 10389 broad.mit.edu 37 X 18323337 18323337 + Splice_Site SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:18323337T>C ENST00000251900.4 - 7 646 c.e7-2 NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TGGTGGTTCCTATCAAAACAT 0.373000 34 16 0 0 0.003271 0 0 CFAP54 144535 broad.mit.edu 37 12 97078951 97078951 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:97078951G>T ENST00000524981.3 + 9 1302 c.1302G>T c.(1300-1302)gaG>gaT p.E434D Q6ZTY8 CL063_HUMAN 408 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 ACAGTGAGGAGTTTCTGTCAA 0.493000 24 29 3.6726e-16 5.75482e-16 0.003954 1 0 NEK11 79858 broad.mit.edu 37 3 130799421 130799421 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:130799421G>T ENST00000383366.4 + 4 618 c.325G>T c.(325-327)Gag>Tag p.E109* NEK11_ENST00000511262.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000507910.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E109*|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E109* NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 109 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CATTATCACGGAGTACTGTGA 0.418000 6 11 0.00116845 0.00124079 0.001168 1 0 ABL2 27 broad.mit.edu 37 1 179095711 179095711 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:179095711G>T ENST00000502732.1 - 4 691 c.488C>A c.(487-489)aCc>aAc p.T163N ABL2_ENST00000408940.3_Missense_Mutation_p.T127N|ABL2_ENST00000511413.1_Missense_Mutation_p.T163N|ABL2_ENST00000507173.1_Missense_Mutation_p.T142N|ABL2_ENST00000392043.3_Missense_Mutation_p.T142N|ABL2_ENST00000367623.4_Missense_Mutation_p.T142N|ABL2_ENST00000512653.1_Missense_Mutation_p.T148N|ABL2_ENST00000504405.1_Missense_Mutation_p.T127N|ABL2_ENST00000344730.3_Missense_Mutation_p.T148N NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 163 SH3. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GTTCACTGGGGTGATGTAGTT 0.517000 T ETV6 AML 24 64 1.85244e-09 2.40337e-09 0.003330 1 0 RNGTT 8732 broad.mit.edu 37 6 89600240 89600240 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:89600240T>A ENST00000369485.4 - 8 1056 c.870A>T c.(868-870)aaA>aaT p.K290N RNGTT_ENST00000538899.1_Missense_Mutation_p.K230N|RNGTT_ENST00000265607.6_Missense_Mutation_p.K290N|RNGTT_ENST00000369475.3_Missense_Mutation_p.K290N NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 290 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TCCAGCTTACTTTGTATGGCT 0.348000 11 6 0 0 0.010729 0 0 MARCH11 441061 broad.mit.edu 37 5 16067808 16067808 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:16067808G>T ENST00000332432.8 - 4 1180 c.981C>A c.(979-981)gcC>gcA p.A327A NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 327 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 CGATGTCTGTGGCTTTGTCAT 0.473000 35 51 9.78485e-24 1.72544e-23 0.002836 1 0 LRP1B 53353 broad.mit.edu 37 2 141143466 141143466 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:141143466G>T ENST00000389484.3 - 67 11498 c.10527C>A c.(10525-10527)aaC>aaA p.N3509K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3509 LDL-receptor class A 25. 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) ACTTACTACAGTTTTCTTCAT 0.378000 TSP Lung(27;0.18) 10 39 0.000442599 0.00047647 0.006214 1 0 OR5D18 219438 broad.mit.edu 37 11 55587976 55587976 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:55587976T>A ENST00000333976.4 + 1 891 c.871T>A c.(871-873)Tac>Aac p.Y291N NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCCCCTGATCTACAGTCTGAG 0.458000 34 33 0 0 0.002836 0 0 ROBO2 6092 broad.mit.edu 37 3 77671422 77671422 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:77671422C>A ENST00000461745.1 + 23 4499 c.3599C>A c.(3598-3600)cCg>cAg p.P1200Q ROBO2_ENST00000332191.8_Missense_Mutation_p.P1200Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1216Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1200 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCAGTTCCACCGTTAGGTTAT 0.408000 39 35 2.66277e-13 3.80569e-13 0.006999 1 0 BZRAP1 9256 broad.mit.edu 37 17 56386583 56386583 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:56386583T>A ENST00000355701.3 - 22 4920 c.4050A>T c.(4048-4050)gcA>gcT p.A1350A BZRAP1_ENST00000343736.4_Silent_p.A1350A|BZRAP1_ENST00000268893.6_Silent_p.A1290A NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1350 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAGAACAGCCTGCCCCTGAct 0.617000 17 32 0 0 0.004007 0 0 PTPN14 5784 broad.mit.edu 37 1 214546179 214546179 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:214546179C>A ENST00000366956.5 - 16 3105 c.2911G>T c.(2911-2913)Gtg>Ttg p.V971L PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 971 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCGCCAACCACCACCTAAAAA 0.522000 25 16 9.57634e-11 1.28094e-10 0.003330 1 0 CASKIN1 57524 broad.mit.edu 37 16 2237441 2237441 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:2237441G>A ENST00000343516.6 - 7 731 c.639C>T c.(637-639)atC>atT p.I213I NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 213 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GGTTAATGTCGATGCCGGCTT 0.677000 17 22 0 0 0.004990 0 0 PLK4 10733 broad.mit.edu 37 4 128804507 128804507 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:128804507T>C ENST00000270861.5 + 3 491 c.217T>C c.(217-219)Ttg>Ctg p.L73L PLK4_ENST00000515069.1_Silent_p.L73L|PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000507249.1_Silent_p.L73L|PLK4_ENST00000513090.1_Intron|PLK4_ENST00000514379.1_Silent_p.L32L NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 73 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TCCTTCTATCTTGGAGGTAAG 0.303000 9 16 0 0 0.004482 0 0 MATN4 8785 broad.mit.edu 37 20 43932928 43932928 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:43932928G>C ENST00000537548.1 - 4 827 c.583C>G c.(583-585)Ctc>Gtc p.L195V MATN4_ENST00000342716.4_Missense_Mutation_p.L195V|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000353917.5_Missense_Mutation_p.L195V|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372754.1_Missense_Mutation_p.L195V|MATN4_ENST00000360607.5_Missense_Mutation_p.L195V|MATN4_ENST00000372756.1_Missense_Mutation_p.L195V O95460 MATN4_HUMAN matrilin 4 195 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GACTCTACGAGGAAGACGTGC 0.647000 10 37 0 0 0.001368 0 0 HCN1 348980 broad.mit.edu 37 5 45303797 45303797 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:45303797C>A ENST00000303230.4 - 6 1579 c.1522G>T c.(1522-1524)Gtg>Ttg p.V508L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 508 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.V508M(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTTTTACCCACGGCTCCTTCT 0.393000 22 68 1.28384e-07 1.58361e-07 0.012319 1 0 FST 10468 broad.mit.edu 37 5 52780023 52780023 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:52780023T>C ENST00000396947.3 + 4 787 c.621T>C c.(619-621)tgT>tgC p.C207C FST_ENST00000256759.3_Silent_p.C207C NM_006350.3 NP_006341.1 P19883 FST_HUMAN follistatin 207 Kazal-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) AATATCTCTGTGGGAATGATG 0.517000 43 70 0 0 0.010771 0 0 F13B 2165 broad.mit.edu 37 1 197029495 197029495 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:197029495C>A ENST00000367412.1 - 5 849 c.e5+1 NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TAAAAATTTACCTTCGCATAC 0.318000 25 35 7.01153e-11 9.39876e-11 0.007291 1 0 FOXN4 121643 broad.mit.edu 37 12 109719578 109719578 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:109719578G>T ENST00000299162.5 - 9 1032 c.928C>A c.(928-930)Cgg>Agg p.R310R FOXN4_ENST00000355216.1_Silent_p.R130R NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 310 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 CTTTCAGGCCGGTCGGAGATC 0.667000 23 19 1.64293e-13 2.37523e-13 0.003330 1 0 OR5D18 219438 broad.mit.edu 37 11 55587975 55587975 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:55587975C>T ENST00000333976.4 + 1 890 c.870C>T c.(868-870)atC>atT p.I290I NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ATCCCCTGATCTACAGTCTGA 0.453000 33 33 0 0 0.012213 0 0 RBMS1 5937 broad.mit.edu 37 2 161143570 161143570 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:161143570C>A ENST00000348849.3 - 7 1096 c.666G>T c.(664-666)aaG>aaT p.K222N RBMS1_ENST00000409289.2_Missense_Mutation_p.K189N|RBMS1_ENST00000392753.3_Missense_Mutation_p.K222N|RBMS1_ENST00000409075.1_Missense_Mutation_p.K189N|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.K189N NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 222 RRM 2. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) CATCAGCAAACTTACACAATA 0.373000 119 121 6.92432e-61 1.37607e-60 0.003610 1 0 TP53 7157 broad.mit.edu 37 17 7579361 7579361 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:7579361A>C ENST00000420246.2 - 4 458 c.326T>G c.(325-327)tTc>tGc p.F109C TP53_ENST00000359597.4_Missense_Mutation_p.F109C|TP53_ENST00000455263.2_Missense_Mutation_p.F109C|TP53_ENST00000413465.2_Missense_Mutation_p.F109C|TP53_ENST00000269305.4_Missense_Mutation_p.F109C|TP53_ENST00000445888.2_Missense_Mutation_p.F109C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 109 Interaction with HIPK1 (By similarity).|Interaction with WWOX. F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCAGACGGAAACCGTAGCT 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 55 13 0 0 0.003610 0 0 COL4A3 1285 broad.mit.edu 37 2 228168586 228168586 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:228168586A>T ENST00000396578.3 + 45 4129 c.3967A>T c.(3967-3969)Aat>Tat p.N1323Y AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1323 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) AGAAAAGGGTAATCCTGGATT 0.408000 7 37 0 0 0.003080 0 0 OR11L1 391189 broad.mit.edu 37 1 248004346 248004346 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:248004346G>C ENST00000355784.2 - 1 908 c.853C>G c.(853-855)Ctg>Gtg p.L285V NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACTGGGTTCAGCAGTGGTGTG 0.438000 28 26 0 0 0.006320 0 0 PAOX 196743 broad.mit.edu 37 10 135193899 135193899 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr10:135193899G>C ENST00000278060.5 + 2 661 c.578G>C c.(577-579)tGt>tCt p.C193S PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.C193S|PAOX_ENST00000480071.2_Missense_Mutation_p.C193S NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 331 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CTGGAATGCTGTGTGAGCGGC 0.602000 16 21 0 0 0.003163 0 0 ASTN1 460 broad.mit.edu 37 1 176903309 176903309 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:176903309C>A ENST00000367654.2 - 16 2687 c.2674G>T c.(2674-2676)Gag>Tag p.E892* ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E884*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E884*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E884* O14525 ASTN1_HUMAN astrotactin 1 892 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 TCTTCATACTCCAGCCAGAGT 0.483000 35 22 5.8336e-16 9.09548e-16 0.003271 1 0 PRAC1 84366 broad.mit.edu 37 17 46799746 46799746 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:46799746G>T ENST00000290294.3 - 1 138 c.9C>A c.(7-9)tgC>tgA p.C3* NM_032391.2 NP_115767.1 Q96KF2 PRAC_HUMAN 3 nucleus kidney(1)|lung(2) 3 AGAAATGGGCGCACAACATCG 0.532000 23 13 6.21321e-17 9.8219e-17 0.002780 1 0 CCKAR 886 broad.mit.edu 37 4 26484829 26484829 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr4:26484829C>G ENST00000295589.3 - 4 897 c.703G>C c.(703-705)Gaa>Caa p.E235Q NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 235 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) TGGTAGAGTTCCAAAGAGATT 0.383000 20 59 0 0 0.010504 0 0 DPP6 1804 broad.mit.edu 37 7 154561225 154561225 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:154561225C>A ENST00000404039.1 + 9 1377 c.790C>A c.(790-792)Ctc>Atc p.L264I DPP6_ENST00000332007.3_Missense_Mutation_p.L266I|DPP6_ENST00000377770.3_Missense_Mutation_p.L328I|DPP6_ENST00000427557.1_Missense_Mutation_p.L221I NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 328 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CATCATGGAGCTCCCAACTTA 0.527000 20 18 8.34094e-07 1.00509e-06 0.008871 1 0 ZFHX4 79776 broad.mit.edu 37 8 77776298 77776298 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:77776298C>A ENST00000521891.2 + 11 10796 c.10348C>A c.(10348-10350)Ctt>Att p.L3450I ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3424I|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3401I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3405I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3401 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) ATATCAGTGTCTTGCCTGTGA 0.453000 HNSCC(33;0.089) 20 63 1.64113e-05 1.86961e-05 0.010504 1 0 SCLY 51540 broad.mit.edu 37 2 239003163 239003163 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:239003163G>T ENST00000254663.6 + 10 1274 c.1132_splice c.e10+1 p.G378_splice SCLY_ENST00000429612.2_Splice_Site_p.G164_splice|SCLY_ENST00000422984.2_Splice_Site_p.G276_splice|SCLY_ENST00000555827.1_Splice_Site_p.G370_splice NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 370 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CCGGCTTCAAGGTGATGGCCC 0.587000 51 37 4.64027e-19 7.63418e-19 0.003610 1 0 RAVER1 125950 broad.mit.edu 37 19 10444188 10444188 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:10444188G>A ENST00000293677.6 - 1 128 c.47C>T c.(46-48)cCc>cTc p.P16L NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 0 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CGCCATCTTGGGAAACCCGGC 0.716000 26 5 0 0 0.003954 0 0 PTPRB 5787 broad.mit.edu 37 12 70949882 70949882 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:70949882C>A ENST00000334414.6 - 19 4805 c.4761G>T c.(4759-4761)acG>acT p.T1587T PTPRB_ENST00000550358.1_Silent_p.T1499T|PTPRB_ENST00000550857.1_Silent_p.T1279T|PTPRB_ENST00000451516.2_Silent_p.T1279T|PTPRB_ENST00000261266.5_Silent_p.T1369T|PTPRB_ENST00000538708.1_Silent_p.T1279T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1369 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) AGGCAATGGCCGTGGAGTTCT 0.443000 23 20 7.87624e-14 1.15604e-13 0.002780 1 0 OR51A4 401666 broad.mit.edu 37 11 4967892 4967892 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:4967892C>A ENST00000380373.2 - 1 464 c.439G>T c.(439-441)Ggg>Tgg p.G147W MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATACTATCCCTATTTGGGCA 0.423000 28 246 9.04072e-19 1.48543e-18 0.003271 1 0 CADM3 57863 broad.mit.edu 37 1 159163275 159163275 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:159163275A>T ENST00000368125.4 + 4 602 c.445A>T c.(445-447)Acc>Tcc p.T149S CADM3_ENST00000368124.4_Missense_Mutation_p.T183S NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 149 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGACACAGCCACCCTAAACTG 0.527000 36 29 0 0 0.003755 0 0 DIDO1 11083 broad.mit.edu 37 20 61542655 61542655 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:61542655C>A ENST00000266070.4 - 3 635 c.310G>T c.(310-312)Gcc>Tcc p.A104S DIDO1_ENST00000370371.4_Missense_Mutation_p.A104S|DIDO1_ENST00000370368.1_Missense_Mutation_p.A104S|DIDO1_ENST00000354665.4_Missense_Mutation_p.A104S|DIDO1_ENST00000395340.1_Missense_Mutation_p.A104S|DIDO1_ENST00000266071.5_Missense_Mutation_p.A104S|DIDO1_ENST00000395343.1_Missense_Mutation_p.A104S|DIDO1_ENST00000395335.2_Missense_Mutation_p.A104S|DIDO1_ENST00000370366.1_Missense_Mutation_p.A104S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 104 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) GCGTCTGTGGCGGGGCAGGAC 0.662000 17 20 1.5739e-10 2.08963e-10 0.004007 1 0 ROR1 4919 broad.mit.edu 37 1 64644039 64644039 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:64644039C>A ENST00000371079.1 + 9 2690 c.2315C>A c.(2314-2316)tCc>tAc p.S772Y ROR1_ENST00000545203.1_Missense_Mutation_p.S223Y NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 772 Ser/Thr-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CAGACAACCTCCCTCAGTGCC 0.512000 16 29 1.3612e-06 1.62928e-06 0.003163 1 0 SPACA7 122258 broad.mit.edu 37 13 113052421 113052421 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr13:113052421A>G ENST00000375699.3 + 2 289 c.117A>G c.(115-117)ccA>ccG p.P39P SPACA7_ENST00000283550.3_Silent_p.P70P Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 70 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 GCGAAATGCCAAGTACAGCAT 0.448000 18 34 0 0 0.012319 0 0 DSEL 92126 broad.mit.edu 37 18 65181399 65181399 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:65181399C>T ENST00000310045.7 - 2 1950 c.477G>A c.(475-477)atG>atA p.M159I NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 149 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CCATCCTGTCCATATATTCCA 0.418000 11 45 0 0 0.001368 0 0 CLCN1 1180 broad.mit.edu 37 7 143016925 143016925 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:143016925T>C ENST00000343257.2 + 2 345 c.258T>C c.(256-258)tcT>tcC p.S86S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 86 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCTCCAGTTCTACCGTGGACA 0.458000 36 60 0 0 0.006230 0 0 SAMHD1 25939 broad.mit.edu 37 20 35540893 35540893 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:35540893T>C ENST00000262878.4 - 10 1324 c.1125A>G c.(1123-1125)caA>caG p.Q375Q SAMHD1_ENST00000373694.5_Silent_p.Q160Q NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 375 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) CAACTTTGTGTTGATAAGCTC 0.353000 5 12 0 0 0.000602 0 0 NES 10763 broad.mit.edu 37 1 156640063 156640063 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:156640063C>A ENST00000368223.3 - 4 4049 c.3917G>T c.(3916-3918)aGg>aTg p.R1306M NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1306 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGTGGGGGACCTGAGGTAGAA 0.662000 28 69 1.75199e-13 2.53401e-13 0.007291 1 0 NAV3 89795 broad.mit.edu 37 12 78510663 78510663 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:78510663C>A ENST00000397909.2 + 13 2921 c.2748C>A c.(2746-2748)gtC>gtA p.V916V NAV3_ENST00000228327.6_Silent_p.V916V|NAV3_ENST00000266692.7_Silent_p.V916V|NAV3_ENST00000536525.2_Silent_p.V916V Q8IVL0 NAV3_HUMAN neuron navigator 3 916 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 ACATCACCGTCCCCTCTAGGA 0.433000 HNSCC(70;0.22) 45 55 4.75955e-12 6.6096e-12 0.003610 1 0 CPD 1362 broad.mit.edu 37 17 28758816 28758816 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:28758816G>C ENST00000225719.4 + 8 2120 c.2044G>C c.(2044-2046)Gat>Cat p.D682H CPD_ENST00000543464.2_Missense_Mutation_p.D435H NM_001304.4 NP_001295.2 O75976 CBPD_HUMAN carboxypeptidase D 682 Carboxypeptidase-like 2. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1) 36 CTACCCTTTTGATGATGATGA 0.353000 8 32 0 0 0.003080 0 0 BRINP1 1620 broad.mit.edu 37 9 121971074 121971074 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:121971074G>T ENST00000265922.3 - 7 1529 c.1068C>A c.(1066-1068)atC>atA p.I356I DBC1_ENST00000482797.1_5'UTR NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 356 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CAGTGCGTTGGATCTTTTGTC 0.577000 32 17 6.38683e-12 8.85961e-12 0.008361 1 0 ANLN 54443 broad.mit.edu 37 7 36438854 36438854 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:36438854C>T ENST00000265748.2 + 3 560 c.339C>T c.(337-339)atC>atT p.I113I ANLN_ENST00000396068.2_Silent_p.I113I NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 113 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CAGATACCATCAGTGATTCTG 0.488000 18 26 0 0 0.006122 0 0 SPTBN1 6711 broad.mit.edu 37 2 54858121 54858121 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:54858121G>T ENST00000333896.5 + 15 3283 c.2898G>T c.(2896-2898)gaG>gaT p.E966D SPTBN1_ENST00000356805.4_Missense_Mutation_p.E979D NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 979 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) AGGTCATCGAGTCCACCCAGG 0.582000 16 16 6.31663e-08 7.8504e-08 0.003163 1 0 DOCK10 55619 broad.mit.edu 37 2 225652116 225652116 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:225652116T>A ENST00000409592.3 - 49 5514 c.e49-2 DOCK10_ENST00000258390.7_Splice_Site Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CAGGATATTCTGCAATTCCCC 0.433000 57 132 0 0 0.003610 0 0 PPAPDC1A 196051 broad.mit.edu 37 10 122349007 122349007 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:122349007C>A ENST00000398250.1 + 7 1161 c.809C>A c.(808-810)cCg>cAg p.P270Q PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.P260Q|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.P207Q|PPAPDC1A_ENST00000398248.1_3'UTR NM_001030059.1 NP_001025230.1 Q5VZY2 PPC1A_HUMAN phosphatidic acid phosphatase type 2 domain containing 1A 270 phospholipid dephosphorylation integral to membrane phosphatidate phosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 20 Lung NSC(174;0.1)|all_lung(145;0.132) all cancers(201;0.0117) ACCGAAGGCCCGGTATGACCA 0.542000 18 21 1.45105e-14 2.1818e-14 0.006122 1 0 KIAA2022 340533 broad.mit.edu 37 X 73961650 73961650 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:73961650A>C ENST00000373468.1 - 3 3393 c.2742T>G c.(2740-2742)agT>agG p.S914R KIAA2022_ENST00000055682.5_Missense_Mutation_p.S914R Q5QGS0 K2022_HUMAN KIAA2022 914 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 CTCCAAATTCACTGGATTGGG 0.458000 13 19 0 0 0.002450 0 0 ABCA13 154664 broad.mit.edu 37 7 48563910 48563910 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:48563910G>T ENST00000435803.1 + 54 14142 c.14118G>T c.(14116-14118)aaG>aaT p.K4706N ABCA13_ENST00000544596.1_Missense_Mutation_p.K436N NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4706 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AAGAGGAAAAGAGAGTGTTTG 0.383000 14 14 9.31168e-06 1.07423e-05 0.001855 1 0 TMPRSS12 283471 broad.mit.edu 37 12 51281254 51281254 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:51281254C>A ENST00000398458.3 + 5 1037 c.1005C>A c.(1003-1005)atC>atA p.I335I TMPRSS12_ENST00000551456.1_3'UTR NM_182559.2 NP_872365.1 Q86WS5 TMPSC_HUMAN transmembrane (C-terminal) protease, serine 12 335 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 GTGGCCAGATCCTCATAGCTT 0.363000 53 71 1.46156e-29 2.69925e-29 0.003610 1 0 TMEM119 338773 broad.mit.edu 37 12 108985685 108985685 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:108985685C>T ENST00000392806.3 - 2 643 c.475G>A c.(475-477)Gac>Aac p.D159N NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 159 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GGCCTGCTGTCGGGGGCTCTG 0.677000 13 26 0 0 0.002450 0 0 GPR116 221395 broad.mit.edu 37 6 46826559 46826559 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:46826559C>A ENST00000283296.7 - 17 3369 c.3081G>T c.(3079-3081)ttG>ttT p.L1027F GPR116_ENST00000265417.7_Missense_Mutation_p.L1027F|GPR116_ENST00000456426.2_Missense_Mutation_p.L885F|GPR116_ENST00000362015.4_Missense_Mutation_p.L1027F|GPR116_ENST00000545669.1_Missense_Mutation_p.L456F NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 1027 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) GACAGGCTGCCAAGCTCAAGA 0.507000 30 5 5.60225e-13 7.9651e-13 0.009535 1 0 LPHN3 23284 broad.mit.edu 37 4 62542546 62542546 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:62542546G>T ENST00000512091.1 + 5 1019 c.272G>T c.(271-273)tGc>tTc p.C91F LPHN3_ENST00000507625.1_Missense_Mutation_p.C159F|LPHN3_ENST00000508946.1_Missense_Mutation_p.C91F|LPHN3_ENST00000506746.1_Missense_Mutation_p.C159F|LPHN3_ENST00000507164.1_Missense_Mutation_p.C159F|LPHN3_ENST00000509896.1_Missense_Mutation_p.C159F|LPHN3_ENST00000508693.1_Missense_Mutation_p.C159F|LPHN3_ENST00000506720.1_Missense_Mutation_p.C159F|LPHN3_ENST00000504896.1_Missense_Mutation_p.C91F|LPHN3_ENST00000506700.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514157.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514591.1_Missense_Mutation_p.C91F|LPHN3_ENST00000511324.1_Missense_Mutation_p.C159F|LPHN3_ENST00000545650.1_Missense_Mutation_p.C91F|LPHN3_ENST00000514996.1_Missense_Mutation_p.C91F Q9HAR2 LPHN3_HUMAN latrophilin 3 91 SUEL-type lectin. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GACTTCAGATGCAATAACAGA 0.368000 86 26 3.64303e-30 6.73799e-30 0.003610 1 0 OTOP2 92736 broad.mit.edu 37 17 72927022 72927022 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:72927022G>T ENST00000331427.4 + 6 1384 c.1292G>T c.(1291-1293)gGg>gTg p.G431V OTOP2_ENST00000580223.1_Missense_Mutation_p.G431V NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 431 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) GGACCGCCCGGGGCTGAGCCT 0.622000 23 71 2.52088e-20 4.23751e-20 0.002780 1 0 BTN2A3P 54718 broad.mit.edu 37 6 26431538 26431538 + RNA SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:26431538C>G ENST00000466808.2 + 0 1486 GGGCTGGACACTTCACAGAGC 0.562000 48 14 0 0 0.013114 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840431 1840431 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:1840431A>G ENST00000331238.5 - 2 703 c.685T>C c.(685-687)Ttc>Ctc p.F229L NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 229 axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 CTGTTGTTGAAGAGGAAGAGG 0.642000 5 17 0 0 0.000602 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465654 24465654 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:24465654G>T ENST00000382137.3 - 3 844 c.776C>A c.(775-777)tCc>tAc p.S259Y C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.S259Y|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 259 C1q. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 AACATTCCTGGAGAAAACAGT 0.453000 10 77 9.31168e-06 1.07423e-05 0.001855 1 0 NEK8 284086 broad.mit.edu 37 17 27065225 27065225 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:27065225A>T ENST00000268766.6 + 8 1218 c.1184A>T c.(1183-1185)cAc>cTc p.H395L AC010761.6_ENST00000584779.1_RNA NM_178170.2 NP_835464.1 Q86SG6 NEK8_HUMAN NIMA-related kinase 8 395 cytoplasm|primary cilium ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Lung NSC(42;0.0158) ACCATCAAGCACGTGGCCTGT 0.627000 16 42 0 0 0.008871 0 0 SBNO1 55206 broad.mit.edu 37 12 123801821 123801821 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:123801821A>C ENST00000420886.2 - 20 2881 c.2882T>G c.(2881-2883)gTt>gGt p.V961G SBNO1_ENST00000267176.4_Missense_Mutation_p.V960G|SBNO1_ENST00000602750.1_Missense_Mutation_p.V960G|SBNO1_ENST00000602398.1_Missense_Mutation_p.V961G NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 961 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) AGTCATATGAACTCTTCGCCT 0.383000 11 58 0 0 0.008291 0 0 SLC15A1 6564 broad.mit.edu 37 13 99354750 99354750 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:99354750C>A ENST00000376503.5 - 18 1505 c.1450G>T c.(1450-1452)Ggg>Tgg p.G484W NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 484 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CCATTTTCCCCTTTTTCTGGC 0.289000 9 16 0.000274275 0.000296245 0.004482 1 0 OR10S1 219873 broad.mit.edu 37 11 123847819 123847819 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:123847819C>A ENST00000531945.1 - 1 669 c.580G>T c.(580-582)Gac>Tac p.D194Y NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D194N(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) GGGGGTATGTCGCAGAAGAAG 0.567000 36 27 7.11191e-15 1.07709e-14 0.002836 1 0 ASIC2 40 broad.mit.edu 37 17 31618776 31618776 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:31618776C>T ENST00000225823.2 - 1 1230 c.358G>A c.(358-360)Gtg>Atg p.V120M ASIC2_ENST00000359872.6_Intron NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 76 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TCGCGGTGCACCCGCGTGTGT 0.642000 8 29 0 0 0.003080 0 0 ADCY1 107 broad.mit.edu 37 7 45701758 45701758 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:45701758T>A ENST00000297323.7 + 8 1572 c.1550T>A c.(1549-1551)aTg>aAg p.M517K ADCY1_ENST00000432715.1_Missense_Mutation_p.M292K NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 517 Interaction with calmodulin (By similarity). 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) TGCCGGAAAATGTTCAAGGCC 0.532000 9 34 0 0 0.004482 0 0 OR2D2 120776 broad.mit.edu 37 11 6913706 6913706 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:6913706A>C ENST00000299459.2 - 1 124 c.26T>G c.(25-27)gTg>gGg p.V9G NM_003700.1 NP_003691.1 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, member 2 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 18 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GAATTCTGTCACTTGTGTCTG 0.408000 13 21 0 0 0.001855 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834677 125834677 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:125834677G>T ENST00000299308.3 + 2 740 c.732G>T c.(730-732)tcG>tcT p.S244S NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 244 integral to membrane p.S244S(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATATCCACTCGGGCCTGGAGA 0.592000 38 74 1.57351e-24 2.79488e-24 0.003755 1 0 POM121 9883 broad.mit.edu 37 7 72413237 72413237 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:72413237C>G ENST00000395270.1 + 14 2951 c.1910C>G c.(1909-1911)tCc>tGc p.S637C POM121_ENST00000257622.4_Missense_Mutation_p.S637C|POM121_ENST00000446813.1_Missense_Mutation_p.S637C|POM121_ENST00000358357.3_Missense_Mutation_p.S637C|POM121_ENST00000434423.2_Missense_Mutation_p.S902C NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 902 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) TTCAGCCAGTCCCTGCACACT 0.647000 32 232 0 0 0.002836 0 0 FAM71C 196472 broad.mit.edu 37 12 100042540 100042540 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:100042540G>A ENST00000324341.1 + 1 1010 c.588G>A c.(586-588)gtG>gtA p.V196V ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 196 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) ACTCATCTGTGTTGGAGGAAG 0.517000 19 21 0 0 0.007413 0 0 ANLN 54443 broad.mit.edu 37 7 36438851 36438851 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:36438851C>T ENST00000265748.2 + 3 557 c.336C>T c.(334-336)acC>acT p.T112T ANLN_ENST00000396068.2_Silent_p.T112T NM_018685.2 NP_061155.2 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 112 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 CAGCAGATACCATCAGTGATT 0.478000 19 25 0 0 0.006122 0 0 FN1 2335 broad.mit.edu 37 2 216248813 216248813 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:216248813A>T ENST00000354785.4 - 30 5193 c.4824T>A c.(4822-4824)acT>acA p.T1608T FN1_ENST00000446046.1_Silent_p.T1517T|FN1_ENST00000357867.4_Silent_p.T1517T|FN1_ENST00000357009.2_Silent_p.T1517T|FN1_ENST00000356005.4_Silent_p.T1517T|FN1_ENST00000432072.2_Silent_p.T1608T|FN1_ENST00000345488.5_Silent_p.T1517T|FN1_ENST00000336916.4_Silent_p.T1517T|FN1_ENST00000323926.6_Silent_p.T1608T|FN1_ENST00000443816.1_Silent_p.T1517T|FN1_ENST00000359671.1_Silent_p.T1517T|FN1_ENST00000421182.1_Silent_p.T1517T|FN1_ENST00000346544.3_Silent_p.T1517T P02751 FINC_HUMAN fibronectin 1 1611 Fibronectin type-III 11. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CAGCATACACAGTGATGGTAT 0.507000 25 62 0 0 0.004656 0 0 ANO4 121601 broad.mit.edu 37 12 101436247 101436247 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:101436247G>T ENST00000392979.3 + 11 1410 c.e11+1 ANO4_ENST00000299222.9_Splice_Site|ANO4_ENST00000392977.3_Splice_Site NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 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 GCCAAGTCAGGTACGGGGAGC 0.488000 HNSCC(74;0.22) 48 56 3.73128e-16 5.85611e-16 0.003610 1 0 ATXN2L 11273 broad.mit.edu 37 16 28842109 28842109 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:28842109G>T ENST00000336783.4 + 9 1375 c.1208G>T c.(1207-1209)gGa>gTa p.G403V ATXN2L_ENST00000395547.2_Missense_Mutation_p.G403V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.G403V|ATXN2L_ENST00000382686.4_Missense_Mutation_p.G403V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.G403V|ATXN2L_ENST00000564304.1_Missense_Mutation_p.G403V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.G403V|RP11-24N18.1_ENST00000563565.1_RNA NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 403 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 GGTATCAATGGAGGTGAGTTA 0.602000 12 25 3.07112e-06 3.61274e-06 0.010729 1 0 ERBB2IP 55914 broad.mit.edu 37 5 65321770 65321770 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:65321770G>T ENST00000284037.5 + 12 1374 c.985G>T c.(985-987)Gct>Tct p.A329S ERBB2IP_ENST00000380935.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.A329S|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.A329S NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 329 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) AACTTTTGCTGCTGATCATAA 0.318000 3 11 1.23904e-05 1.42025e-05 0.000602 1 0 SLC7A13 157724 broad.mit.edu 37 8 87229998 87229998 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:87229998C>A ENST00000297524.3 - 3 983 c.880G>T c.(880-882)Gct>Tct p.A294S SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.A285S NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 294 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 GTAGAAATAGCAAAAGGCATA 0.373000 45 144 1.76056e-25 3.16749e-25 0.011902 1 0 OR4L1 122742 broad.mit.edu 37 14 20529044 20529044 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:20529044T>A ENST00000315683.1 + 1 841 c.841T>A c.(841-843)Tta>Ata p.L281I NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TATCACACCCTTACTGAATCC 0.353000 9 21 0 0 0.001368 0 0 RAB19 401409 broad.mit.edu 37 7 140125837 140125837 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:140125837G>A ENST00000275874.5 + 5 880 c.682G>A c.(682-684)Gcg>Acg p.A228T RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T A4D1S5 RAB19_HUMAN RAB19, member RAS oncogene family 181 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 9 Melanoma(164;0.0142) GGAGCTGATCGCGCGCAACAG 0.572000 21 67 0 0 0.008871 0 0 C1orf50 79078 broad.mit.edu 37 1 43241011 43241011 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:43241011G>T ENST00000372525.5 + 5 589 c.546G>T c.(544-546)caG>caT p.Q182H C1orf50_ENST00000468913.2_3'UTR|C1orf50_ENST00000536543.1_5'UTR NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 182 large_intestine(2)|ovary(1)|pancreas(1) 4 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGCTAAGCCAGTCAGTGGCCC 0.517000 50 11 9.52127e-25 1.69598e-24 0.003610 1 0 DNASE1L3 1776 broad.mit.edu 37 3 58190582 58190582 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:58190582C>T ENST00000483681.1 - 6 928 c.347G>A c.(346-348)aGt>aAt p.S116N DNASE1L3_ENST00000486455.1_Missense_Mutation_p.S86N|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.S116N|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.S116N Q13609 DNSL3_HUMAN deoxyribonuclease I-like 3 116 apoptosis|DNA catabolic process nucleus calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters breast(2)|large_intestine(4)|lung(6) 12 BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202) GTAGTGATAACTCCTCTTCAC 0.478000 15 9 0 0 0.003163 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711781 155711781 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:155711781C>A ENST00000295101.2 + 3 1939 c.1462C>A c.(1462-1464)Ctt>Att p.L488I NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 488 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) GGAAGGGAACCTTCCAGCCAA 0.413000 9 17 0.00448238 0.00470763 0.004482 1 0 SORCS1 114815 broad.mit.edu 37 10 108434840 108434840 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:108434840A>T ENST00000263054.6 - 14 1914 c.1907T>A c.(1906-1908)cTg>cAg p.L636Q SORCS1_ENST00000344440.6_Missense_Mutation_p.L636Q|SORCS1_ENST00000369698.1_Missense_Mutation_p.L171Q NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 636 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AGGCTCACCCAGAACCCCATC 0.373000 24 32 0 0 0.007291 0 0 MARCH11 441061 broad.mit.edu 37 5 16067809 16067809 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:16067809G>T ENST00000332432.8 - 4 1179 c.980C>A c.(979-981)gCc>gAc p.A327D NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 327 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 GATGTCTGTGGCTTTGTCATA 0.468000 35 53 9.78485e-24 1.7282e-23 0.002836 1 0 SCN8A 6334 broad.mit.edu 37 12 52163671 52163671 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52163671C>A ENST00000354534.5 + 18 3570 c.3392C>A c.(3391-3393)tCc>tAc p.S1131Y SCN8A_ENST00000545061.1_Missense_Mutation_p.S1131Y NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1131 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) GACACCAGCTCCTCTGAAGGA 0.512000 6 7 2.0095e-06 2.39081e-06 0.001984 1 0 GABRB2 2561 broad.mit.edu 37 5 160761777 160761777 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:160761777C>A ENST00000274547.2 - 8 1031 c.814G>T c.(814-816)Gct>Tct p.A272S GABRB2_ENST00000520240.1_Missense_Mutation_p.A272S|GABRB2_ENST00000353437.6_Missense_Mutation_p.A272S|GABRB2_ENST00000517547.1_Missense_Mutation_p.A112S|GABRB2_ENST00000517901.1_Missense_Mutation_p.A209S|GABRB2_ENST00000393959.1_Missense_Mutation_p.A272S NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 272 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACCCTTGCAGCTGAAGCATCG 0.438000 19 10 4.96729e-08 6.18568e-08 0.008871 1 0 SNX19 399979 broad.mit.edu 37 11 130781541 130781541 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:130781541T>C ENST00000265909.4 - 2 2369 c.1800A>G c.(1798-1800)cgA>cgG p.R600R SNX19_ENST00000539184.1_Silent_p.R43R|SNX19_ENST00000530356.1_5'UTR|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000533214.1_Silent_p.R600R|SNX19_ENST00000528555.1_5'UTR NM_014758.2 NP_055573.2 Q92543 SNX19_HUMAN sorting nexin 19 600 PX. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TGATGAACTTTCGTAGATCTG 0.562000 21 35 0 0 0.010504 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628390 51628390 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:51628390T>G ENST00000440804.3 + 1 226 c.159T>G c.(157-159)ccT>ccG p.P53P SIGLEC9_ENST00000250360.3_Silent_p.P53P NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 53 Ig-like V-type. 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) GGATTTACCCTGGCCCAGTAG 0.587000 40 4 0 0 0.006999 0 0 LACTB2 51110 broad.mit.edu 37 8 71556426 71556426 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:71556426C>G ENST00000276590.4 - 4 502 c.466G>C c.(466-468)Gag>Cag p.E156Q LACTB2_ENST00000517601.1_5'UTR|RP11-382J12.1_ENST00000518553.1_Intron|LACTB2_ENST00000522447.1_Missense_Mutation_p.E156Q|RP11-382J12.1_ENST00000499227.2_Intron NM_016027.2 NP_057111.1 Q53H82 LACB2_HUMAN lactamase, beta 2 156 hydrolase activity|metal ion binding endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1) 10 Breast(64;0.0716) Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166) GCATTTTCCTCTTCTAAGAGT 0.368000 47 350 0 0 0.003610 0 0 CHIT1 1118 broad.mit.edu 37 1 203192738 203192738 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:203192738G>T ENST00000367229.1 - 5 399 c.365C>A c.(364-366)tCg>tAg p.S122* CHIT1_ENST00000535569.1_Nonsense_Mutation_p.S113*|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.S103*|CHIT1_ENST00000484834.1_5'UTR NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 122 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 CCTGATGGCCGAGTTGACAAA 0.577000 29 103 4.59853e-10 6.05095e-10 0.005443 1 0 METTL16 79066 broad.mit.edu 37 17 2381013 2381013 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:2381013C>T ENST00000263092.5 - 3 422 c.295G>A c.(295-297)Gac>Aac p.D99N METTL16_ENST00000571669.1_5'UTR|METTL16_ENST00000538844.1_5'UTR NM_024086.3 NP_076991.3 Q86W50 MET16_HUMAN methyltransferase like 16 99 methyltransferase activity kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 19 GTACTTTTGTCAGAATCCTGG 0.358000 19 53 0 0 0.007413 0 0 HSD3B7 80270 broad.mit.edu 37 16 30998017 30998017 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:30998017G>T ENST00000262520.6 + 5 813 c.523G>T c.(523-525)Ggg>Tgg p.G175W HSD3B7_ENST00000353250.5_Missense_Mutation_p.G175W|HSD3B7_ENST00000297679.5_Missense_Mutation_p.G175W NM_001142777.1 NP_001136249.1 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 175 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GGAGGCCAACGGGAGGAAGGT 0.657000 25 43 1.96895e-08 2.48147e-08 0.002780 1 0 FCAR 2204 broad.mit.edu 37 19 55399576 55399576 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:55399576A>T ENST00000355524.3 + 4 574 c.564A>T c.(562-564)tcA>tcT p.S188S FCAR_ENST00000391723.3_Silent_p.S176S|FCAR_ENST00000391724.3_Silent_p.S176S|FCAR_ENST00000391726.3_Intron|FCAR_ENST00000469767.1_Silent_p.S188S|FCAR_ENST00000391725.3_Silent_p.S188S|FCAR_ENST00000345937.4_Intron|FCAR_ENST00000482092.2_3'UTR|FCAR_ENST00000359272.4_Silent_p.S176S|FCAR_ENST00000353758.4_Silent_p.S79S NM_002000.2 NP_001991.1 P24071 FCAR_HUMAN Fc fragment of IgA, receptor for 188 Ig-like C2-type 2. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) TCAATGTCTCAGGGATCTACA 0.557000 15 7 0 0 0.003163 0 0 OR4D11 219986 broad.mit.edu 37 11 59271345 59271345 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:59271345A>G ENST00000313253.1 + 1 297 c.297A>G c.(295-297)acA>acG p.T99T NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GCTGCATGACACAGATATTTC 0.473000 31 104 0 0 0.009535 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455382 187455382 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:187455382G>C ENST00000307161.5 - 2 715 c.514C>G c.(514-516)Ccg>Gcg p.P172A RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 172 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TAGATCCTCGGGTCGTACTGG 0.597000 17 13 0 0 0.006122 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142120086 142120086 + RNA SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:142120086G>T ENST00000390377.1 - 0 80 CTTTGTACCTGGGAGACTGGG 0.478000 9 37 7.48243e-07 9.03947e-07 0.006214 1 0 LRRC37A3 374819 broad.mit.edu 37 17 62865265 62865265 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:62865265G>A ENST00000584306.1 - 8 3456 c.2926C>T c.(2926-2928)Ctg>Ttg p.L976L LRRC37A3_ENST00000400877.3_Silent_p.L14L|LRRC37A3_ENST00000319651.5_Silent_p.L976L|LRRC37A3_ENST00000339474.5_Silent_p.L94L NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 976 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 ACAGTTGTCAGAGGATTGTGA 0.299000 21 74 0 0 0.012319 0 0 PDE6A 5145 broad.mit.edu 37 5 149247310 149247310 + Missense_Mutation SNP G G T rs143080578 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:149247310G>T ENST00000255266.5 - 19 2371 c.2252C>A c.(2251-2253)aCg>aAg p.T751K NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 751 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TTGCAGCACCGTGCGCTCCAG 0.557000 14 5 3.27435e-08 4.09376e-08 0.002450 1 0 TMEM225 338661 broad.mit.edu 37 11 123754046 123754046 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:123754046G>C ENST00000375026.2 - 4 693 c.477C>G c.(475-477)ctC>ctG p.L159L NM_001013743.1 NP_001013765.1 Q6GV28 TM225_HUMAN transmembrane protein 225 159 integral to membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 28 TGCACTCTAGGAGAGAGAGGA 0.443000 6 23 0 0 0.001984 0 0 BEND4 389206 broad.mit.edu 37 4 42145613 42145613 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:42145613G>C ENST00000502486.1 - 3 1465 c.886C>G c.(886-888)Cca>Gca p.P296A BEND4_ENST00000504360.1_Missense_Mutation_p.P292A NM_207406.3 NP_997289.2 Q6ZU67 BEND4_HUMAN BEN domain containing 4 296 NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 GACGTTGCTGGGGAAGTCCAG 0.557000 6 5 0 0 0.001168 0 0 CCL15 6359 broad.mit.edu 37 17 34325410 34325410 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:34325410C>T ENST00000354059.4 - 3 706 c.154G>A c.(154-156)Gac>Aac p.D52N CCL14_ENST00000536149.1_5'UTR|CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.D52N NM_032965.4 NP_116741.1 Q16663 CCL15_HUMAN chemokine (C-C motif) ligand 15 52 cell-cell signaling|cellular calcium ion homeostasis|immune response extracellular space chemoattractant activity|chemokine activity|heparin binding|signal transducer activity large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GTGCAGCAGTCAGCAGCAAAG 0.493000 3 9 0 0 0.009096 0 0 MUC5B 727897 broad.mit.edu 37 11 1263868 1263868 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:1263868A>C ENST00000447027.1 + 31 5825 c.5767A>C c.(5767-5769)Act>Cct p.T1923P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T1920P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1920 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GACTGCGTCCACTGGATCCAC 0.647000 33 65 0 0 0.003755 0 0 CACNA1E 777 broad.mit.edu 37 1 181620493 181620493 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:181620493C>A ENST00000526775.1 + 7 1136 c.971C>A c.(970-972)gCc>gAc p.A324D CACNA1E_ENST00000367573.2_Missense_Mutation_p.A324D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A275D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A324D|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A324D|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A275D NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 324 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GCCTTAGGAGCCACCTGGAAT 0.448000 17 57 9.16793e-09 1.1648e-08 0.004990 1 0 MGAM 8972 broad.mit.edu 37 7 141730165 141730165 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:141730165G>A ENST00000475668.2 + 11 1279 c.1225G>A c.(1225-1227)Gtt>Att p.V409I MGAM_ENST00000549489.2_Missense_Mutation_p.V409I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 409 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTTTCAGGATGTTCAGCATGC 0.338000 9 10 0 0 0.008291 0 0 MAP3K19 80122 broad.mit.edu 37 2 135781051 135781051 + Missense_Mutation SNP G G T rs146771223 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:135781051G>T ENST00000392915.1 - 1 168 c.49C>A c.(49-51)Ctt>Att p.L17I MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron mitogen-activated protein kinase kinase kinase 19 TTTCCCACAAGCCCAGTCCTA 0.458000 14 77 2.32078e-09 3.00337e-09 0.003163 1 0 MTHFR 4524 broad.mit.edu 37 1 11854864 11854864 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:11854864C>T ENST00000376592.1 - 6 1216 c.1088G>A c.(1087-1089)cGt>cAt p.R363H MTHFR_ENST00000376583.3_Missense_Mutation_p.R404H|MTHFR_ENST00000376585.1_Missense_Mutation_p.R404H|MTHFR_ENST00000376590.3_Missense_Mutation_p.R363H P42898 MTHR_HUMAN methylenetetrahydrofolate reductase (NAD(P)H) 363 blood circulation|folic acid metabolic process cytosol methylenetetrahydrofolate reductase (NADPH) activity|protein binding p.R363H(1) NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116) GAAGATGGGACGTACATCTTC 0.602000 35 69 0 0 0.003271 0 0 ADCY7 113 broad.mit.edu 37 16 50324465 50324465 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:50324465G>T ENST00000394697.2 + 3 609 c.269G>T c.(268-270)cGg>cTg p.R90L ADCY7_ENST00000538642.1_Missense_Mutation_p.R90L|ADCY7_ENST00000537579.1_Missense_Mutation_p.R90L|ADCY7_ENST00000254235.3_Missense_Mutation_p.R90L|ADCY7_ENST00000566433.2_Missense_Mutation_p.R90L|ADCY7_ENST00000564044.1_Intron P51828 ADCY7_HUMAN adenylate cyclase 7 90 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) TGTCTCCTGCGGCGCTGGCTC 0.657000 41 9 1.32136e-16 2.08688e-16 0.008740 1 0 PRMT3 10196 broad.mit.edu 37 11 20409612 20409612 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:20409612G>T ENST00000331079.6 + 2 293 c.76G>T c.(76-78)Gac>Tac p.D26Y PRMT3_ENST00000437750.2_Intron NM_001145167.1|NM_005788.3 NP_001138639.1|NP_005779.1 O60678 ANM3_HUMAN protein arginine methyltransferase 3 26 zinc ion binding endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1) 17 AGAACTGTCGGACAGCGGGGA 0.652000 10 19 7.48243e-07 9.03947e-07 0.006214 1 0 HS3ST2 9956 broad.mit.edu 37 16 22826281 22826281 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:22826281C>A ENST00000261374.3 + 1 784 c.350C>A c.(349-351)gCc>gAc p.A117D NM_006043.1 NP_006034.1 Q9Y278 HS3S2_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 2 117 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) TTGCCCCAAGCCCTCATTGTG 0.692000 12 18 0.00010058 0.00011093 0.001368 1 0 DOCK2 1794 broad.mit.edu 37 5 169174459 169174459 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:169174459C>T ENST00000256935.8 + 23 2407 c.2327C>T c.(2326-2328)tCc>tTc p.S776F DOCK2_ENST00000540750.1_5'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.S268F NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 776 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTCTTTGAATCCATCAACAAT 0.378000 12 7 0 0 0.001855 0 0 NR0B1 190 broad.mit.edu 37 X 30322722 30322722 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:30322722G>T ENST00000378970.4 - 2 1621 c.1387C>A c.(1387-1389)Ctg>Atg p.L463M NM_000475.4 NP_000466.2 P51843 NR0B1_HUMAN nuclear receptor subfamily 0, group B, member 1 463 Ligand-binding (By similarity). adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 24 Dexamethasone(DB01234)|Tretinoin(DB00755) AGCATTTCCAGCATCATATCA 0.443000 27 11 8.24728e-16 1.28473e-15 0.004656 1 0 OR5AP2 338675 broad.mit.edu 37 11 56409689 56409689 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:56409689T>A ENST00000544374.1 - 1 258 c.230A>T c.(229-231)gAt>gTt p.D77V OR5AP2_ENST00000302981.1_Missense_Mutation_p.D76V Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 GTAAGAGGCATCTACAAAAGA 0.448000 9 29 0 0 0.004482 0 0 ASTN1 460 broad.mit.edu 37 1 177030276 177030276 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:177030276T>A ENST00000367654.2 - 2 422 c.409A>T c.(409-411)Act>Tct p.T137S ASTN1_ENST00000424564.2_Missense_Mutation_p.T137S|ASTN1_ENST00000361833.2_Missense_Mutation_p.T137S|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.T137S O14525 ASTN1_HUMAN astrotactin 1 137 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGTTCTTCAGTGGGGTCTTGT 0.542000 93 72 0 0 0.003610 0 0 ALMS1 7840 broad.mit.edu 37 2 73680643 73680643 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:73680643G>T ENST00000264448.6 + 8 7097 c.6986G>T c.(6985-6987)aGg>aTg p.R2329M ALMS1_ENST00000377715.1_Missense_Mutation_p.R2329M|ALMS1_ENST00000409009.1_Missense_Mutation_p.R2287M NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2329 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 CCAAGCAGCAGGTGCATACAG 0.438000 17 21 4.7546e-09 6.09017e-09 0.004007 1 0 TRIM50 135892 broad.mit.edu 37 7 72738485 72738485 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:72738485C>A ENST00000333149.2 - 2 501 c.301G>T c.(301-303)Gag>Tag p.E101* TRIM50_ENST00000493498.1_5'UTR|TRIM50_ENST00000453152.1_Nonsense_Mutation_p.E101* NM_178125.2 NP_835226.1 Q86XT4 TRI50_HUMAN tripartite motif containing 50 101 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2) 20 TGGTCCTTCTCGCAGAAAAGG 0.657000 OREG0018105 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 71 1.26454e-06 1.52036e-06 0.005443 1 0 PLXNA4 91584 broad.mit.edu 37 7 132193098 132193098 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:132193098G>C ENST00000359827.3 - 2 1317 c.355C>G c.(355-357)Ctc>Gtc p.L119V PLXNA4_ENST00000423507.2_Missense_Mutation_p.L119V|PLXNA4_ENST00000321063.4_Missense_Mutation_p.L119V|PLXNA4_ENST00000378539.5_Missense_Mutation_p.L119V Q9HCM2 PLXA4_HUMAN plexin A4 119 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TAGTCTATGAGGAGCATCTTG 0.582000 15 39 0 0 0.004007 0 0 MYOF 26509 broad.mit.edu 37 10 95148894 95148894 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:95148894C>A ENST00000371501.4 - 18 1596 c.1474G>T c.(1474-1476)Gag>Tag p.E492* MYOF_ENST00000359263.4_Nonsense_Mutation_p.E492*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.E479*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.E492* Q9NZM1 MYOF_HUMAN myoferlin 492 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAGCCTACCTCTGTTTCTCCT 0.393000 12 15 2.68362e-12 3.75587e-12 0.001368 1 0 PXDNL 137902 broad.mit.edu 37 8 52366284 52366284 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:52366284A>T ENST00000356297.4 - 10 1144 c.1044T>A c.(1042-1044)acT>acA p.T348T PXDNL_ENST00000543296.1_Silent_p.T348T NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 348 Ig-like C2-type 2. 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) TACATTCCAAAGTTGTGCTGG 0.507000 10 106 0 0 0.008291 0 0 LAMA2 3908 broad.mit.edu 37 6 129419478 129419478 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:129419478C>A ENST00000421865.2 + 4 606 c.557C>A c.(556-558)aCt>aAt p.T186N NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 186 Laminin N-terminal. 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 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) TATCCCCGCACTGGGCCACCG 0.443000 24 10 6.36457e-07 7.72621e-07 0.003954 1 0 PLOD2 5352 broad.mit.edu 37 3 145795655 145795655 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:145795655G>A ENST00000282903.5 - 14 1734 c.1557C>T c.(1555-1557)ccC>ccT p.P519P PLOD2_ENST00000360060.3_Intron|PLOD2_ENST00000461497.1_Silent_p.P179P|PLOD2_ENST00000494950.1_Silent_p.P464P|RP11-274H2.2_ENST00000480247.1_RNA NM_182943.2 NP_891988.1 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 500 protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) aCACCTTTGGGGGGCTGAGCA 0.348000 20 66 0 0 0.010504 0 0 SCN1A 6323 broad.mit.edu 37 2 166909404 166909404 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:166909404A>T ENST00000423058.2 - 5 669 c.652T>A c.(652-654)Ttc>Atc p.F218I AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F218I|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F218I|SCN1A_ENST00000303395.4_Missense_Mutation_p.F218I NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 218 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) AGAACTCTGAATGTTCTCAAT 0.448000 8 27 0 0 0.004482 0 0 PSAP 5660 broad.mit.edu 37 10 73581676 73581676 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:73581676G>T ENST00000394936.3 - 8 1013 c.866C>A c.(865-867)tCc>tAc p.S289Y PSAP_ENST00000394934.1_Missense_Mutation_p.S291Y P07602 SAP_HUMAN prosaposin 289 glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 GACATTCTTGGAGGCCACTTT 0.557000 11 34 2.80697e-09 3.61762e-09 0.010729 1 0 PCDH10 57575 broad.mit.edu 37 4 134072994 134072994 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:134072994C>G ENST00000264360.4 + 1 2525 c.1699C>G c.(1699-1701)Caa>Gaa p.Q567E NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 567 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.Q567E(2) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) CATAGTGGATCAAAATGACAA 0.637000 43 8 0 0 0.008740 0 0 EDAR 10913 broad.mit.edu 37 2 109527314 109527314 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:109527314G>T ENST00000409271.1 - 8 1187 c.744C>A c.(742-744)ctC>ctA p.L248L EDAR_ENST00000376651.1_Silent_p.L248L|EDAR_ENST00000258443.2_Intron Q9UNE0 EDAR_HUMAN ectodysplasin A receptor 217 apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 AGGCTGGGGAGAGAGGAGGGA 0.662000 20 18 4.96729e-08 6.18568e-08 0.008871 1 0 CDH23 64072 broad.mit.edu 37 10 73551059 73551059 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:73551059C>T ENST00000224721.6 + 46 6240 c.6235C>T c.(6235-6237)Ctc>Ttc p.L2079F NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 2074 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CCCTGCCACCCTCACTGTCCA 0.637000 13 21 0 0 0.001855 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81065309 81065309 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:81065309G>T ENST00000334512.5 + 21 2946 c.2374G>T c.(2374-2376)Ggc>Tgc p.G792C NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 792 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TCTGCTGGAGGGCCTGGAGGT 0.607000 18 286 1.67942e-08 2.12511e-08 0.006122 1 0 AGRN 375790 broad.mit.edu 37 1 981235 981235 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:981235G>T ENST00000379370.2 + 15 2709 c.2659G>T c.(2659-2661)Ggc>Tgc p.G887C NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 887 Laminin EGF-like 2. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CCGTGCCCTGGGCCCCGCGGG 0.692000 47 34 2.77807e-22 4.82507e-22 0.013114 1 0 SPEG 10290 broad.mit.edu 37 2 220309648 220309648 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:220309648G>T ENST00000312358.7 + 3 712 c.580G>T c.(580-582)Gtc>Ttc p.V194F SPEG_ENST00000396698.1_Missense_Mutation_p.V90F|SPEG_ENST00000396695.2_5'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 194 muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGGGCAGACGGTCCTGGAGCA 0.721000 28 57 8.58068e-18 1.392e-17 0.007291 1 0 A2ML1 144568 broad.mit.edu 37 12 8995901 8995901 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:8995901T>A ENST00000299698.7 + 12 1600 c.1420T>A c.(1420-1422)Tat>Aat p.Y474N NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 318 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GCTGGTGGATTATTACATCGA 0.582000 77 14 0 0 0.003610 0 0 KCNH7 90134 broad.mit.edu 37 2 163374347 163374347 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:163374347C>G ENST00000332142.5 - 4 884 c.785G>C c.(784-786)aGa>aCa p.R262T KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R262T NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 262 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) TTCCCTTGATCTGGAATGGGA 0.493000 17 65 0 0 0.004007 0 0 FANCL 55120 broad.mit.edu 37 2 58449132 58449132 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:58449132G>A ENST00000402135.3 - 5 355 c.319C>T c.(319-321)Cct>Tct p.P107S FANCL_ENST00000403676.1_Intron|FANCL_ENST00000481670.1_5'UTR|FANCL_ENST00000233741.4_Missense_Mutation_p.P107S|FANCL_ENST00000403295.3_Missense_Mutation_p.P107S|FANCL_ENST00000540646.1_Missense_Mutation_p.P107S NM_001114636.1 NP_001108108.1 Q9NW38 FANCL_HUMAN Fanconi anemia, complementation group L 107 DNA repair cytoplasm|nucleoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|large_intestine(1)|lung(4)|ovary(2) 8 AACTGGGGAGGAGGAGGTAGT 0.363000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 19 0 0 0.001368 0 0 DHRS7C 201140 broad.mit.edu 37 17 9676190 9676190 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:9676190G>T ENST00000330255.4 - 5 636 c.624C>A c.(622-624)gcC>gcA p.A208A DHRS7C_ENST00000571134.1_Silent_p.A207A NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 208 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 CCTCCACTTCGGCTCGGAGGC 0.587000 29 5 1.55811e-20 2.62617e-20 0.008361 1 0 ITGB7 3695 broad.mit.edu 37 12 53588066 53588066 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:53588066G>T ENST00000267082.5 - 10 1455 c.1224C>A c.(1222-1224)taC>taA p.Y408* ITGB7_ENST00000550743.2_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000338737.4_Nonsense_Mutation_p.Y408*|ITGB7_ENST00000422257.3_Nonsense_Mutation_p.Y408* NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 408 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACTGGGATTCGTAAGAAATGT 0.557000 44 56 2.215e-12 3.11677e-12 0.011902 1 0 LARGE 9215 broad.mit.edu 37 22 34046644 34046644 + Silent SNP G G A rs140622529 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:34046644G>A ENST00000354992.2 - 4 688 c.117C>T c.(115-117)ccC>ccT p.P39P LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000397394.2_Silent_p.P39P|LARGE_ENST00000437602.2_Silent_p.P39P|LARGE_ENST00000337431.2_Silent_p.P39P|LARGE_ENST00000402320.1_Silent_p.P39P NM_004737.4 NP_004728.1 O95461 LARGE_HUMAN like-glycosyltransferase 39 glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation integral to Golgi membrane acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(1;0.219) ACAGAGACACGGGCTTTCCAT 0.622000 22 6 0 0 0.002299 0 0 DNAJB5 25822 broad.mit.edu 37 9 34993258 34993258 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:34993258G>T ENST00000541010.1 + 1 3040 c.28G>T c.(28-30)Ggg>Tgg p.G10W DNAJB5_ENST00000545841.1_Missense_Mutation_p.G10W|DNAJB5_ENST00000453597.3_Missense_Mutation_p.G124W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.G44W|DNAJB5_ENST00000454002.2_Missense_Mutation_p.G82W|DNAJB5_ENST00000312316.5_Missense_Mutation_p.G10W O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 10 J. protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) CAAGATTCTTGGGATCCCATC 0.493000 21 42 3.51602e-12 4.90443e-12 0.008871 1 0 CSMD3 114788 broad.mit.edu 37 8 113569102 113569102 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:113569102C>A ENST00000297405.5 - 25 4368 c.4124G>T c.(4123-4125)aGc>aTc p.S1375I CSMD3_ENST00000343508.3_Missense_Mutation_p.S1335I|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1271I|CSMD3_ENST00000352409.3_Missense_Mutation_p.S1375I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1375 Sushi 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AATGATGGTGCTACCAGCAAA 0.468000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 39 75 1.47244e-24 2.61907e-24 0.006230 1 0 FBN1 2200 broad.mit.edu 37 15 48740970 48740970 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:48740970C>A ENST00000316623.5 - 46 6121 c.5666G>T c.(5665-5667)tGc>tTc p.C1889F NM_000138.4 NP_000129.3 P35555 FBN1_HUMAN fibrillin 1 1889 EGF-like 31; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 139 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTTACCCAAGCACATGGTTTG 0.328000 8 6 2.17888e-05 2.47492e-05 0.006214 1 0 OR7A10 390892 broad.mit.edu 37 19 14952192 14952192 + Silent SNP C C A rs146303789 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:14952192C>A ENST00000248058.1 - 1 497 c.498G>T c.(496-498)ctG>ctT p.L166L NM_001005190.1 NP_001005190.1 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, member 10 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1) 19 Ovarian(108;0.203) TACAAAAGGGCAGTGGCAACA 0.428000 24 10 1.64293e-13 2.38178e-13 0.003330 1 0 LOC653786 653786 broad.mit.edu 37 16 22588087 22588087 + RNA SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:22588087G>A ENST00000550753.1 + 0 2562 NR_003676.2 GTGGGACACCGTTCCCTGGAT 0.522000 7 31 0 0 0.001984 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173848254 173848254 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:173848254G>T ENST00000264111.6 + 11 1219 c.1032G>T c.(1030-1032)gaG>gaT p.E344D RAPGEF4_ENST00000397087.3_Missense_Mutation_p.E201D|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.E345D|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.E345D|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.E192D|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.E125D|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.E174D Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 345 blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) ATGACCTAGAGATTATCTATG 0.393000 14 75 0.000151284 0.000166267 0.001855 1 0 SGIP1 84251 broad.mit.edu 37 1 67205120 67205120 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:67205120G>T ENST00000371037.4 + 22 2211 c.2134G>T c.(2134-2136)Gat>Tat p.D712Y SGIP1_ENST00000371035.3_Missense_Mutation_p.D502Y|SGIP1_ENST00000371036.3_Missense_Mutation_p.D514Y|SGIP1_ENST00000371039.1_Missense_Mutation_p.D515Y|SGIP1_ENST00000237247.6_Missense_Mutation_p.D743Y|SGIP1_ENST00000435165.2_Missense_Mutation_p.D217Y NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 712 positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 ATATAATACAGATGCAATGAC 0.542000 13 19 0.000151284 0.000166267 0.001855 1 0 TG 7038 broad.mit.edu 37 8 133941393 133941393 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:133941393C>A ENST00000220616.4 + 23 4812 c.4772C>A c.(4771-4773)tCc>tAc p.S1591Y TG_ENST00000542445.1_Missense_Mutation_p.S25Y|TG_ENST00000377869.1_Missense_Mutation_p.S1534Y NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1591 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) GCTGTCAGATCCAAAGTTCCT 0.453000 14 84 2.31682e-05 2.62211e-05 0.003163 1 0 COX19 90639 broad.mit.edu 37 7 1015098 1015098 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:1015098G>A ENST00000344111.3 - 1 137 c.48C>T c.(46-48)ccC>ccT p.P16P NM_001031617.2 NP_001026788.1 Q49B96 COX19_HUMAN cytochrome c oxidase assembly homolog 19 (S. cerevisiae) 16 cytosol endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) CCTTGTCCGGGGGCCGCGGCT 0.701000 5 21 0 0 0.000602 0 0 RELN 5649 broad.mit.edu 37 7 103252090 103252090 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:103252090T>G ENST00000428762.1 - 21 3022 c.2863A>C c.(2863-2865)Aac>Cac p.N955H RELN_ENST00000343529.5_Missense_Mutation_p.N955H|RELN_ENST00000424685.2_Missense_Mutation_p.N955H NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 955 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) AGGCCGTGGTTGGTTGAGTAC 0.458000 15 7 0 0 0.002450 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125547669 125547669 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:125547669C>T ENST00000431078.1 + 18 3304 c.2940C>T c.(2938-2940)taC>taT p.Y980Y NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 980 EGF-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACAATGGCTACCTGTGTGATT 0.547000 13 19 0 0 0.001855 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683293 50683293 + Silent SNP G G T rs111415362 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:50683293G>T ENST00000008391.3 + 2 732 c.504G>T c.(502-504)ctG>ctT p.L168L NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 168 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) GGCCCAGCCTGGGGCTGGCCG 0.622000 53 63 6.56871e-35 1.24806e-34 0.003610 1 0 PRKAA2 5563 broad.mit.edu 37 1 57159456 57159456 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:57159456C>T ENST00000371244.4 + 5 560 c.494C>T c.(493-495)tCa>tTa p.S165L NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 165 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 AATATGATGTCAGATGGTGAA 0.313000 18 30 0 0 0.006122 0 0 DCN 1634 broad.mit.edu 37 12 91572284 91572284 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:91572284C>T ENST00000551354.1 - 2 250 c.46G>A c.(46-48)Gct>Act p.A16T DCN_ENST00000546370.1_Missense_Mutation_p.A16T|DCN_ENST00000441303.2_Missense_Mutation_p.A16T|DCN_ENST00000052754.5_Missense_Mutation_p.A16T|DCN_ENST00000550099.1_Missense_Mutation_p.A16T|DCN_ENST00000420120.2_Missense_Mutation_p.A16T|DCN_ENST00000546745.1_Missense_Mutation_p.A16T|DCN_ENST00000456569.2_Missense_Mutation_p.A16T|DCN_ENST00000228329.5_Missense_Mutation_p.A16T|DCN_ENST00000425043.1_Missense_Mutation_p.A16T|DCN_ENST00000552962.1_Missense_Mutation_p.A16T|DCN_ENST00000547568.2_Missense_Mutation_p.A16T|DCN_ENST00000303320.3_Missense_Mutation_p.A16T|DCN_ENST00000393155.1_Missense_Mutation_p.A16T P07585 PGS2_HUMAN decorin 16 organ morphogenesis extracellular space central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1) 20 AACGGTCCAGCCCAGGAAACT 0.463000 OREG0022021 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 49 0 0 0.003330 0 0 SCN9A 6335 broad.mit.edu 37 2 167134813 167134813 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:167134813C>A ENST00000375387.4 - 15 2697 c.2357G>T c.(2356-2358)gGa>gTa p.G786V AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.G785V|SCN9A_ENST00000409672.1_Missense_Mutation_p.G774V|SCN9A_ENST00000303354.6_Missense_Mutation_p.G786V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 785 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TGCAAAGATTCCAGTAAAGAC 0.318000 4 13 0.00024832 0.000269371 0.009096 1 0 KIF19 124602 broad.mit.edu 37 17 72350441 72350441 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:72350441G>A ENST00000389916.4 + 18 2587 c.2449G>A c.(2449-2451)Gag>Aag p.E817K NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 817 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 CTCACTGAGCGAGGGCGACGA 0.721000 23 18 0 0 0.002299 0 0 WRN 7486 broad.mit.edu 37 8 30938390 30938390 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:30938390A>T ENST00000298139.5 + 9 1096 c.847A>T c.(847-849)Atc>Ttc p.I283F NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 283 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TAGGGTTTCTATCTTACTAAA 0.299000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 6 0 0 0 0.001168 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212158 26212158 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:26212158G>C ENST00000379034.1 + 2 344 c.195G>C c.(193-195)caG>caC p.Q65H NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 65 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 AGGAGTCTCAGGGAGTGTCAC 0.527000 27 9 0 0 0.004656 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939712 12939712 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:12939712T>C ENST00000235349.5 - 4 1160 c.1090A>G c.(1090-1092)Atc>Gtc p.I364V NM_001009611.2 NP_001009611.1 O60810 PRAM4_HUMAN PRAME family member 4 364 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) GAGTCTATGATGCCACAGTCA 0.507000 138 304 0 0 0.003610 0 0 EIF4G3 8672 broad.mit.edu 37 1 21220009 21220009 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:21220009C>A ENST00000544689.1 - 6 855 c.715G>T c.(715-717)Gta>Tta p.V239L EIF4G3_ENST00000374933.3_5'UTR|EIF4G3_ENST00000374935.3_Splice_Site|EIF4G3_ENST00000374937.3_Splice_Site|EIF4G3_ENST00000264211.8_Splice_Site|EIF4G3_ENST00000400422.1_Splice_Site|EIF4G3_ENST00000602326.1_Splice_Site|EIF4G3_ENST00000536266.1_Splice_Site|EIF4G3_ENST00000537738.1_Splice_Site O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 696 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) CTTGCACTTACAGGTACGCCT 0.473000 54 24 1.27334e-21 2.19336e-21 0.003610 1 0 VAX1 11023 broad.mit.edu 37 10 118896009 118896009 + Missense_Mutation SNP G G A rs143950742 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:118896009G>A ENST00000277905.2 - 2 647 c.403C>T c.(403-405)Cgg>Tgg p.R135W VAX1_ENST00000369206.5_Missense_Mutation_p.R135W NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 135 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) TTAAGCTGCCGGGCGAGCTCG 0.662000 6 18 0 0 0.001168 0 0 KIRREL 55243 broad.mit.edu 37 1 158063180 158063180 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:158063180T>A ENST00000368172.1 + 8 977 c.965T>A c.(964-966)cTg>cAg p.L322Q KIRREL_ENST00000360089.4_Missense_Mutation_p.L344Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.L405Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.L508Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.L524Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.L408Q Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 508 Ig-like C2-type 4. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GCGAGCATCCTGCTCATCTTC 0.582000 35 92 0 0 0.004289 0 0 TRPS1 7227 broad.mit.edu 37 8 116599801 116599801 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:116599801C>A ENST00000395715.3 - 5 2704 c.2127G>T c.(2125-2127)caG>caT p.Q709H TRPS1_ENST00000519674.1_Missense_Mutation_p.Q696H|TRPS1_ENST00000519076.1_Missense_Mutation_p.Q450H|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q700H|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q696H NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 696 Mediates interaction with GLI3. negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TAAAACTGCACTGACGGCATT 0.468000 Langer-Giedion syndrome 23 209 1.96895e-08 2.48147e-08 0.002780 1 0 DHRS7C 201140 broad.mit.edu 37 17 9683332 9683332 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:9683332G>C ENST00000330255.4 - 3 303 c.291C>G c.(289-291)gtC>gtG p.V97V DHRS7C_ENST00000571134.1_Silent_p.V96V NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C 97 extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GGTCCAACAGGACCAGCTTTG 0.512000 15 2 0 0 0.003163 0 0 KRT82 3888 broad.mit.edu 37 12 52799941 52799941 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52799941C>T ENST00000257974.2 - 1 198 c.121G>A c.(121-123)Ggg>Agg p.G41R NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 41 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) CTACCACCCCCGGGCCGGCAT 0.662000 9 20 0 0 0.006214 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31692034 31692034 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:31692034C>A ENST00000360542.3 - 1 573 c.320G>T c.(319-321)tGc>tTc p.C107F NM_203405.1 NP_981950.1 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 107 intermediate filament endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 TACTGGAAGGCAGGAACTGGA 0.537000 61 23 1.75667e-42 3.43125e-42 0.003610 1 0 TNR 7143 broad.mit.edu 37 1 175348736 175348736 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:175348736C>A ENST00000367674.1 - 9 2623 c.1915G>T c.(1915-1917)Gta>Tta p.V639L TNR_ENST00000263525.2_Missense_Mutation_p.V639L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 639 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGGACCAGTACCTCATGATAT 0.547000 16 35 2.32078e-09 3.00337e-09 0.003163 1 0 CACNA1I 8911 broad.mit.edu 37 22 40075819 40075819 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:40075819C>A ENST00000336649.4 + 36 5505 c.5505C>A c.(5503-5505)ttC>ttA p.F1835L CACNA1I_ENST00000404898.1_Missense_Mutation_p.F1794L|CACNA1I_ENST00000400164.3_Missense_Mutation_p.F1794L|CACNA1I_ENST00000401624.1_Missense_Mutation_p.F1829L|CACNA1I_ENST00000407673.1_Missense_Mutation_p.F1794L|CACNA1I_ENST00000402142.3_Missense_Mutation_p.F1829L Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1829 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) GCTCCATCTTCCACCACTACT 0.607000 9 3 0.00621372 0.00650417 0.006214 1 0 UBR5 51366 broad.mit.edu 37 8 103287962 103287962 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:103287962C>A ENST00000520539.1 - 46 7210 c.6604G>T c.(6604-6606)Gaa>Taa p.E2202* UBR5_ENST00000220959.4_Nonsense_Mutation_p.E2202*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.E2196* NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2202 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) CCAACATCTTCCATGAATACC 0.423000 36 22 1.42033e-22 2.47374e-22 0.004289 1 0 ENO1 2023 broad.mit.edu 37 1 8927283 8927283 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:8927283C>A ENST00000234590.4 - 6 456 c.337G>T c.(337-339)Ggg>Tgg p.G113W NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1, (alpha) 113 Required for repression of c-myc promoter activity. gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus phosphopyruvate hydratase complex|plasma membrane|sarcomere DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642) AGGGACACCCCCAGAATGGCG 0.547000 48 41 9.57592e-29 1.75816e-28 0.003610 1 0 OR10G9 219870 broad.mit.edu 37 11 123894513 123894513 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:123894513A>T ENST00000375024.1 + 1 794 c.794A>T c.(793-795)gAc>gTc p.D265V NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 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;0.0399) GGCTCCAGGGACGTCGTGGAT 0.522000 67 47 0 0 0.003610 0 0 ATP4A 495 broad.mit.edu 37 19 36053455 36053455 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:36053455A>T ENST00000262623.3 - 4 330 c.302T>A c.(301-303)gTc>gAc p.V101D NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 101 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCGAACTTGACGTACTCTGG 0.692000 12 12 0 0 0.010729 0 0 CHRND 1144 broad.mit.edu 37 2 233393312 233393312 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:233393312C>A ENST00000258385.3 + 5 487 c.455C>A c.(454-456)cCc>cAc p.P152H CHRND_ENST00000536614.1_Missense_Mutation_p.P152H|CHRND_ENST00000457943.2_Missense_Mutation_p.P62T|CHRND_ENST00000543200.1_Missense_Mutation_p.P137H NM_000751.2 NP_000742.1 Q07001 ACHD_HUMAN cholinergic receptor, nicotinic, delta (muscle) 152 muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1) 34 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) TCCTCCTGCCCCATCTCTGTC 0.577000 33 126 2.42023e-17 3.87608e-17 0.003271 1 0 ETV1 2115 broad.mit.edu 37 7 13971305 13971305 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:13971305A>G ENST00000343495.5 - 8 1308 c.570T>C c.(568-570)cgT>cgC p.R190R ETV1_ENST00000403685.1_Silent_p.R190R|ETV1_ENST00000420159.2_Silent_p.R150R|ETV1_ENST00000405218.2_Silent_p.R208R|ETV1_ENST00000430479.1_Silent_p.R208R|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Silent_p.R168R|ETV1_ENST00000405192.2_Silent_p.R208R|ETV1_ENST00000242066.5_Silent_p.R190R|ETV1_ENST00000399357.3_Silent_p.R105R|ETV1_ENST00000405358.4_Silent_p.R222R P50549 ETV1_HUMAN ets variant 1 208 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 GGTACATAGGACGTCCTTCCC 0.507000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 12 39 0 0 0.001368 0 0 ACTG2 72 broad.mit.edu 37 2 74129495 74129495 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:74129495G>T ENST00000409624.1 + 4 778 c.135G>T c.(133-135)atG>atT p.M45I ACTG2_ENST00000409731.3_Intron|ACTG2_ENST00000409918.1_Missense_Mutation_p.M45I|ACTG2_ENST00000345517.3_Missense_Mutation_p.M45I P63267 ACTH_HUMAN actin, gamma 2, smooth muscle, enteric 45 muscle contraction cytoskeleton|cytosol ATP binding large_intestine(3)|lung(14)|skin(1) 18 AGGGTGTGATGGTGGGAATGG 0.502000 11 30 5.50884e-06 6.39637e-06 0.001368 1 0 CCDC93 54520 broad.mit.edu 37 2 118731509 118731509 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:118731509T>A ENST00000376300.2 - 11 1000 c.863A>T c.(862-864)cAg>cTg p.Q288L CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.Q287L NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 288 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 GGACACAATCTGCTTGATCTC 0.557000 3 2 0 0 0.004672 0 0 UGT1A1 54658 broad.mit.edu 37 2 234669003 234669003 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:234669003G>A ENST00000360418.3 + 1 70 c.70G>A c.(70-72)Gtg>Atg p.V24M UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.V24M|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A5_ENST00000373414.3_Intron P22309 UD11_HUMAN 24 bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process endoplasmic reticulum membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2) 30 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054) Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197) GGGCCCAGTGGTGTCCCATGC 0.627000 10 17 0 0 0.006214 0 0 KEL 3792 broad.mit.edu 37 7 142658584 142658584 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:142658584G>T ENST00000355265.2 - 3 560 c.86C>A c.(85-87)aCt>aAt p.T29N KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 29 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CTCTTCTGGAGTGCTCTGTGG 0.542000 4 7 1.23904e-05 1.42025e-05 0.000602 1 0 TRPM1 4308 broad.mit.edu 37 15 31353686 31353686 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:31353686T>A ENST00000542188.1 - 9 1485 c.1172A>T c.(1171-1173)cAg>cTg p.Q391L TRPM1_ENST00000397795.2_Missense_Mutation_p.Q352L|TRPM1_ENST00000256552.6_Missense_Mutation_p.Q374L NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 352 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) GATGTCCTGCTGGCCCTCAGA 0.468000 4 32 0 0 0.009096 0 0 MIR551B 693136 broad.mit.edu 37 3 168269691 168269691 + RNA SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:168269691A>C ENST00000384984.1 + 0 50 NR_030294.1 GACCTGGTGCAGAACGGGAAG 0.463000 23 20 0 0 0.006320 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16848101 16848101 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:16848101C>A ENST00000355661.3 - 10 919 c.909G>T c.(907-909)caG>caT p.Q303H PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.Q303H|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.Q303H Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 303 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 TGTGGTTGGCCTGGGGGACAG 0.542000 28 44 3.1745e-13 4.53913e-13 0.008361 1 0 OR4C13 283092 broad.mit.edu 37 11 49974145 49974145 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:49974145G>A ENST00000555099.1 + 1 203 c.171G>A c.(169-171)atG>atA p.M57I NM_001001955.2 NP_001001955.2 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, member 13 57 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 GATCCCCCATGTACTTTTTCC 0.428000 117 106 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238283538 238283538 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:238283538G>T ENST00000295550.4 - 8 3648 c.3196C>A c.(3196-3198)Cgc>Agc p.R1066S COL6A3_ENST00000472056.1_Missense_Mutation_p.R459S|COL6A3_ENST00000353578.4_Missense_Mutation_p.R860S|COL6A3_ENST00000392003.2_Missense_Mutation_p.R659S|COL6A3_ENST00000392004.3_Missense_Mutation_p.R860S|COL6A3_ENST00000346358.4_Missense_Mutation_p.R866S|COL6A3_ENST00000347401.3_Missense_Mutation_p.R865S|COL6A3_ENST00000409809.1_Missense_Mutation_p.R860S NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1066 Nonhelical region.|VWFA 6. 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) ACGGCCACGCGGACCCGGTCC 0.597000 5 45 3.59834e-05 4.06515e-05 0.001168 1 0 MB21D2 151963 broad.mit.edu 37 3 192516978 192516978 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:192516978C>A ENST00000392452.2 - 2 993 c.673G>T c.(673-675)Ggt>Tgt p.G225C NM_178496.3 NP_848591.2 Q8IYB1 M21D2_HUMAN Mab-21 domain containing 2 225 endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 31 CTCCCTACACCCAGAATGATG 0.468000 11 31 3.86212e-05 4.32419e-05 0.008291 1 0 GPR148 344561 broad.mit.edu 37 2 131487510 131487510 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:131487510C>A ENST00000309926.4 + 1 868 c.786C>A c.(784-786)acC>acA p.T262T NM_207364.2 NP_997247.2 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 262 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CCAGGGGCACCCTGCTGATCC 0.572000 42 87 8.01111e-26 1.44754e-25 0.010771 1 0 ZHX3 23051 broad.mit.edu 37 20 39833104 39833104 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:39833104C>T ENST00000309060.3 - 4 868 c.453G>A c.(451-453)gtG>gtA p.V151V ZHX3_ENST00000559234.1_Silent_p.V151V|ZHX3_ENST00000560361.1_Silent_p.V151V|ZHX3_ENST00000544979.2_Silent_p.V151V|ZHX3_ENST00000540170.1_Silent_p.V151V|ZHX3_ENST00000557816.1_Silent_p.V151V|ZHX3_ENST00000432768.2_Silent_p.V151V|ZHX3_ENST00000558993.1_Silent_p.V151V Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 151 negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TGCTCTGCTCCACAACCACAT 0.552000 33 74 0 0 0.002836 0 0 COL3A1 1281 broad.mit.edu 37 2 189856949 189856949 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:189856949C>A ENST00000304636.3 + 14 1161 c.991C>A c.(991-993)Caa>Aaa p.Q331K COL3A1_ENST00000317840.5_Missense_Mutation_p.Q331K NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 331 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CAGTGATGGTCAACCAGTAAG 0.348000 15 36 3.41278e-10 4.50487e-10 0.004990 1 0 IL18R1 8809 broad.mit.edu 37 2 103013009 103013009 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:103013009A>T ENST00000409599.1 + 12 1645 c.1289A>T c.(1288-1290)cAc>cTc p.H430L IL18R1_ENST00000233957.1_Missense_Mutation_p.H430L Q13478 IL18R_HUMAN interleukin 18 receptor 1 430 TIR. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 GATGAAATCCACTCACTGATA 0.358000 8 20 0 0 0.006214 0 0 KIF17 57576 broad.mit.edu 37 1 21014335 21014335 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:21014335A>T ENST00000247986.2 - 8 1794 c.1484T>A c.(1483-1485)gTg>gAg p.V495E KIF17_ENST00000490034.1_Intron|KIF17_ENST00000375044.1_Missense_Mutation_p.V395E|KIF17_ENST00000400463.3_Missense_Mutation_p.V495E Q9P2E2 KIF17_HUMAN kinesin family member 17 495 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) GGGTTTCACCACTGTCTCATA 0.567000 19 78 0 0 0.007413 0 0 DIDO1 11083 broad.mit.edu 37 20 61542656 61542656 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:61542656G>A ENST00000266070.4 - 3 634 c.309C>T c.(307-309)ccC>ccT p.P103P DIDO1_ENST00000370368.1_Silent_p.P103P|DIDO1_ENST00000370366.1_Silent_p.P103P|DIDO1_ENST00000370371.4_Silent_p.P103P|DIDO1_ENST00000395340.1_Silent_p.P103P|DIDO1_ENST00000395335.2_Silent_p.P103P|DIDO1_ENST00000266071.5_Silent_p.P103P|DIDO1_ENST00000354665.4_Silent_p.P103P|DIDO1_ENST00000395343.1_Silent_p.P103P NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 103 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) CGTCTGTGGCGGGGCAGGACG 0.662000 18 21 0 0 0.004990 0 0 KRT7 3855 broad.mit.edu 37 12 52639225 52639225 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52639225G>T ENST00000331817.5 + 7 1197 c.1014G>T c.(1012-1014)gaG>gaT p.E338D RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 338 Coil 2.|Rod. cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) CCATTGCCGAGGCTGAGGAGC 0.662000 27 30 3.99451e-17 6.37292e-17 0.009535 1 0 C10orf2 56652 broad.mit.edu 37 10 102749515 102749515 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:102749515G>C ENST00000370228.1 + 2 1543 c.1358G>C c.(1357-1359)cGg>cCg p.R453P C10orf2_ENST00000311916.2_Missense_Mutation_p.R453P|C10orf2_ENST00000473656.1_3'UTR NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 453 SF4 helicase. cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGACTAGCCCGGGTCATGCTG 0.532000 25 77 0 0 0.003330 0 0 PIK3CG 5294 broad.mit.edu 37 7 106508673 106508673 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:106508673G>A ENST00000359195.3 + 2 977 c.667G>A c.(667-669)Gtc>Atc p.V223I PIK3CG_ENST00000496166.1_Missense_Mutation_p.V223I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V223I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 223 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 CATCTTCATCGTCATTCACCG 0.592000 55 90 0 0 0.003610 0 0 KAT2A 2648 broad.mit.edu 37 17 40265767 40265767 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:40265767C>T ENST00000225916.5 - 18 2467 c.2414G>A c.(2413-2415)cGc>cAc p.R805H NM_021078.2 NP_066564.2 Q92830 KAT2A_HUMAN K(lysine) acetyltransferase 2A 805 Bromo. chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GTTGTACTCGCGACAGTTGGC 0.607000 12 17 0 0 0.001368 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68934401 68934401 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:68934401G>T ENST00000356291.2 - 7 749 c.690C>A c.(688-690)ggC>ggA p.G230G RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 230 Peptidase S1. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 CACACTGATGGCCTGACCCTA 0.517000 37 9 3.21399e-22 5.57448e-22 0.004878 1 0 UBL3 5412 broad.mit.edu 37 13 30341775 30341775 + Nonsense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:30341775A>C ENST00000380680.4 - 4 1426 c.281T>G c.(280-282)tTa>tGa p.L94* NM_007106.3 NP_009037.1 O95164 UBL3_HUMAN ubiquitin-like 3 94 intracellular|plasma membrane large_intestine(3)|lung(1) 4 Lung SC(185;0.0281) all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147) TGGCTCTGGTAATGTCTCTCT 0.398000 15 5 0 0 0.008871 0 0 TPTE 7179 broad.mit.edu 37 21 10906961 10906961 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:10906961C>G ENST00000298232.7 - 23 1913 c.1546G>C c.(1546-1548)Gag>Cag p.E516Q TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E534Q|TPTE_ENST00000342420.5_Missense_Mutation_p.E496Q NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 534 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) AAAAGTATCTCCACGGCAAAA 0.358000 8 9 0 0 0.003080 0 0 KIAA1715 80856 broad.mit.edu 37 2 176794802 176794802 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:176794802C>T ENST00000272748.4 - 13 1427 c.1180G>A c.(1180-1182)Gag>Aag p.E394K KIAA1715_ENST00000544803.1_Missense_Mutation_p.E425K|KIAA1715_ENST00000535310.1_3'UTR NM_030650.1 NP_085153.1 Q9C0E8 LNP_HUMAN KIAA1715 394 integral to membrane protein binding endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TTCTCAGTCTCTTGTTTCTCC 0.433000 8 59 0 0 0.003080 0 0 PEX5L 51555 broad.mit.edu 37 3 179597742 179597742 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:179597742G>T ENST00000467460.1 - 5 810 c.480C>A c.(478-480)gtC>gtA p.V160V PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_Intron|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000476138.1_Silent_p.V117V|PEX5L_ENST00000485199.1_Silent_p.V125V|PEX5L_ENST00000465751.1_Silent_p.V136V|PEX5L_ENST00000464614.1_Intron|PEX5L_ENST00000392649.3_Intron|PEX5L_ENST00000472994.1_Silent_p.V101V|PEX5L_ENST00000263962.8_Silent_p.V158V NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 160 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) AAGTCTCCGGGACTCTGAGAG 0.507000 16 50 8.00594e-06 9.27004e-06 0.007413 1 0 BCLAF1 9774 broad.mit.edu 37 6 136599569 136599569 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:136599569A>G ENST00000531224.1 - 4 702 c.450T>C c.(448-450)taT>taC p.Y150Y BCLAF1_ENST00000527536.1_Silent_p.Y150Y|BCLAF1_ENST00000527759.1_Silent_p.Y148Y|BCLAF1_ENST00000353331.4_Silent_p.Y148Y|BCLAF1_ENST00000392348.2_Silent_p.Y148Y|BCLAF1_ENST00000530767.1_Silent_p.Y150Y NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 150 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GAGATTTGCTATATGGGGATG 0.433000 59 162 0 0 0.003610 0 0 EPX 8288 broad.mit.edu 37 17 56276975 56276975 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:56276975G>T ENST00000225371.5 + 9 1467 c.1357G>T c.(1357-1359)Ggg>Tgg p.G453W NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 453 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 GCACTACAGGGGGTACTGCTC 0.597000 34 28 2.46105e-21 4.20458e-21 0.010818 1 0 ZNF804A 91752 broad.mit.edu 37 2 185800745 185800745 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:185800745C>A ENST00000302277.6 + 4 1216 c.622C>A c.(622-624)Cac>Aac p.H208N NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 208 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 CCAGGGGATTCACAGACACAA 0.428000 12 27 1.49906e-05 1.71204e-05 0.002450 1 0 KLHL26 55295 broad.mit.edu 37 19 18779735 18779735 + Missense_Mutation SNP A A G rs146678979 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:18779735A>G ENST00000300976.4 + 3 1618 c.1528A>G c.(1528-1530)Atc>Gtc p.I510V KLHL26_ENST00000599006.1_Intron NM_018316.1 NP_060786.1 Q53HC5 KLH26_HUMAN kelch-like family member 26 510 breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 17 CGGCGGCCGCATCTATGCCCT 0.682000 49 5 0 0 0.003610 0 0 TAS1R2 80834 broad.mit.edu 37 1 19166519 19166519 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:19166519C>A ENST00000375371.3 - 6 2115 c.2094G>T c.(2092-2094)ctG>ctT p.L698L NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 698 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GGCCCGTGGCCAGCATGCCAA 0.557000 25 124 1.64293e-13 2.38178e-13 0.003330 1 0 AKR1B1 231 broad.mit.edu 37 7 134133180 134133180 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:134133180C>A ENST00000285930.4 - 6 697 c.618G>T c.(616-618)gtG>gtT p.V206V NM_001628.2 NP_001619.1 P15121 ALDR_HUMAN aldo-keto reductase family 1, member B1 (aldose reductase) 206 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) AGGCGGTCACCACGATGCCTT 0.517000 39 43 1.03325e-14 1.56296e-14 0.011902 1 0 COL25A1 84570 broad.mit.edu 37 4 110223091 110223091 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:110223091G>C ENST00000399132.1 - 2 615 c.85C>G c.(85-87)Cgg>Ggg p.R29G COL25A1_ENST00000399127.1_Missense_Mutation_p.R29G|COL25A1_ENST00000399126.1_Missense_Mutation_p.R29G NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 29 collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GGCATGGTCCGGGCACAATGC 0.677000 39 14 0 0 0.006999 0 0 ZNF215 7762 broad.mit.edu 37 11 6953866 6953866 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:6953866C>T ENST00000278319.5 + 3 951 c.363C>T c.(361-363)acC>acT p.T121T ZNF215_ENST00000527171.1_3'UTR|ZNF215_ENST00000414517.2_Silent_p.T121T|ZNF215_ENST00000529903.1_Silent_p.T121T NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 121 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) ATATGGTGACCCTCATAGAAG 0.368000 5 15 0 0 0.001168 0 0 SPEG 10290 broad.mit.edu 37 2 220336998 220336998 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:220336998G>T ENST00000312358.7 + 15 4017 c.3885G>T c.(3883-3885)acG>acT p.T1295T SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1295 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) TGGCTGTGACGGGGAGGATGG 0.652000 22 40 7.87624e-14 1.16061e-13 0.002780 1 0 OXSM 54995 broad.mit.edu 37 3 25833306 25833306 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:25833306A>G ENST00000280701.3 + 2 894 c.795A>G c.(793-795)cgA>cgG p.R265R OXSM_ENST00000449808.1_3'UTR|OXSM_ENST00000420173.2_Intron NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 265 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TGGCATGTCGACCATTTCATC 0.483000 39 16 0 0 0.004289 0 0 ATP2B1 490 broad.mit.edu 37 12 90021464 90021464 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:90021464G>T ENST00000428670.3 - 7 1414 c.958C>A c.(958-960)Cgc>Agc p.R320S ATP2B1_ENST00000261173.2_Missense_Mutation_p.R320S|ATP2B1_ENST00000348959.3_Missense_Mutation_p.R320S|ATP2B1_ENST00000393164.2_Missense_Mutation_p.R63S|ATP2B1_ENST00000359142.3_Missense_Mutation_p.R320S P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 320 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 CCTTTGTTGCGATTCTCAATA 0.313000 32 42 4.3181e-19 7.13425e-19 0.002836 1 0 ELMO1 9844 broad.mit.edu 37 7 37264516 37264516 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:37264516G>T ENST00000310758.4 - 9 1316 c.669C>A c.(667-669)atC>atA p.I223I ELMO1_ENST00000448602.1_Silent_p.I223I|ELMO1_ENST00000442504.1_Silent_p.I223I NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 223 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGCCGATGGTGATCTCCTGCG 0.542000 37 75 2.19358e-23 3.8472e-23 0.005524 1 0 GRIK5 2901 broad.mit.edu 37 19 42558061 42558061 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:42558061G>T ENST00000262895.3 - 9 1076 c.1077C>A c.(1075-1077)acC>acA p.T359T GRIK5_ENST00000301218.4_Silent_p.T359T|GRIK5_ENST00000593562.1_Silent_p.T359T NM_002088.4 NP_002079.3 Q16478 GRIK5_HUMAN glutamate receptor, ionotropic, kainate 5 359 cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 35 Prostate(69;0.059) L-Glutamic Acid(DB00142) CGACCCGCCCGGTCAGCCCAT 0.632000 28 6 1.08312e-15 1.6727e-15 0.009535 1 0 WRB 7485 broad.mit.edu 37 21 40765117 40765117 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:40765117G>C ENST00000333781.5 + 4 503 c.362G>C c.(361-363)tGg>tCg p.W121S WRB_ENST00000398753.1_Missense_Mutation_p.W87S|WRB_ENST00000380708.1_Missense_Mutation_p.W87S|WRB_ENST00000466787.1_3'UTR|WRB_ENST00000541890.1_Missense_Mutation_p.W121S NM_004627.4 NP_004618.2 O00258 WRB_HUMAN tryptophan rich basic protein 121 integral to membrane|nucleolus endometrium(3) 3 Prostate(19;1.2e-06) TCACTCATTTGGAAGTATTAT 0.498000 16 41 0 0 0.007413 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802353 185802353 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:185802353G>C ENST00000302277.6 + 4 2824 c.2230G>C c.(2230-2232)Gat>Cat p.D744H NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 744 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TCTTCAAAATGATATGAAACA 0.338000 11 36 0 0 0.001368 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255552 15255552 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:15255552C>T ENST00000378116.4 - 8 2041 c.2035G>A c.(2035-2037)Gct>Act p.A679T NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 679 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 TTCATCTGAGCCAAAGCCGCG 0.632000 15 16 0 0 0.004007 0 0 MAB21L2 10586 broad.mit.edu 37 4 151504910 151504910 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:151504910G>A ENST00000317605.4 + 1 1834 c.729G>A c.(727-729)atG>atA p.M243I LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 243 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) GCCTGCTGATGGGCGGCTGCC 0.637000 25 30 0 0 0.005443 0 0 AK5 26289 broad.mit.edu 37 1 77806060 77806060 + Splice_Site SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:77806060A>T ENST00000344720.5 + 6 1647 c.e6-1 AK5_ENST00000354567.2_Splice_Site NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 TGCTCTCCACAGATCTGTACC 0.473000 23 34 0 0 0.012319 0 0 KIAA1598 57698 broad.mit.edu 37 10 118719648 118719648 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:118719648T>A ENST00000355371.4 - 4 763 c.267_splice c.e4+1 p.K89_splice KIAA1598_ENST00000392903.2_Splice_Site_p.K89_splice|KIAA1598_ENST00000260777.10_Splice_Site_p.K89_splice|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Splice_Site_p.K29_splice NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 89 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) AAGTCTCACCTTTGTTGCCAA 0.368000 9 18 0 0 0.004482 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800519 185800519 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:185800519A>T ENST00000302277.6 + 4 990 c.396A>T c.(394-396)ggA>ggT p.G132G NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 132 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GTGCTCCTGGAAGTGGCCCCA 0.333000 9 34 0 0 0.010729 0 0 OTC 5009 broad.mit.edu 37 X 38262932 38262932 + Missense_Mutation SNP T T A rs72558407 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:38262932T>A ENST00000039007.4 + 6 754 c.602T>A c.(601-603)cTg>cAg p.L201Q TM4SF2_ENST00000465127.1_Intron NM_000531.5 NP_000522.3 P00480 OTC_HUMAN ornithine carbamoyltransferase 201 L -> P (in OTCD; neonatal). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 L-Citrulline(DB00155)|L-Ornithine(DB00129) AACAATATCCTGCACTCCATC 0.483000 46 6 0 0 0.013114 0 0 VCAN 1462 broad.mit.edu 37 5 82818083 82818083 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:82818083C>A ENST00000265077.3 + 7 4523 c.3958C>A c.(3958-3960)Cct>Act p.P1320T VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.P1272T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.P1320T NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1320 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AAAATTTCACCCTGACATTAA 0.433000 30 8 1.39806e-14 2.10717e-14 0.008361 1 0 KCNJ3 3760 broad.mit.edu 37 2 155555868 155555868 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:155555868T>A ENST00000295101.2 + 1 1058 c.581T>A c.(580-582)cTc>cAc p.L194H KCNJ3_ENST00000544049.1_Missense_Mutation_p.L194H NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 194 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) GCCGAGACCCTCATGTTCAGC 0.597000 16 65 0 0 0.004007 0 0 AMPH 273 broad.mit.edu 37 7 38500884 38500884 + Splice_Site SNP T T A rs36056840 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:38500884T>A ENST00000356264.2 - 11 1231 c.1017_splice c.e11+1 p.Q339_splice AMPH_ENST00000325590.5_Splice_Site_p.Q339_splice|AMPH_ENST00000428293.2_Splice_Site_p.Q339_splice NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 339 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GGCACTTACCTGGGAAGGTGT 0.498000 58 132 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238303595 238303595 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:238303595G>T ENST00000295550.4 - 3 796 c.344C>A c.(343-345)aCc>aAc p.T115N COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.T115N|COL6A3_ENST00000347401.3_Missense_Mutation_p.T115N|COL6A3_ENST00000409809.1_Intron NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 115 Nonhelical region.|VWFA 1. 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) AGTCTGATTGGTTCCCCCAAT 0.458000 27 55 1.77063e-15 2.72438e-15 0.005443 1 0 NFATC3 4775 broad.mit.edu 37 16 68160513 68160513 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:68160513G>T ENST00000349223.5 + 3 1625 c.1401_splice c.e3+1 p.K467_splice NFATC3_ENST00000575270.1_Splice_Site_p.K467_splice|NFATC3_ENST00000329524.4_Splice_Site_p.K467_splice|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Splice_Site_p.K467_splice NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 467 RHD. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CTGTTGTGAAGGTATGAGACT 0.423000 28 8 1.5548e-18 2.55199e-18 0.005443 1 0 PLXNA3 55558 broad.mit.edu 37 X 153688605 153688605 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:153688605G>T ENST00000369682.3 + 2 257 c.82G>T c.(82-84)Gtg>Ttg p.V28L NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 28 Sema. axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCTTCGTGGTGACAGACAC 0.672000 54 14 2.27459e-33 4.30867e-33 0.003610 1 0 ZFHX4 79776 broad.mit.edu 37 8 77618174 77618174 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:77618174G>A ENST00000521891.2 + 2 2299 c.1851G>A c.(1849-1851)aaG>aaA p.K617K ZFHX4_ENST00000050961.6_Silent_p.K617K|ZFHX4_ENST00000455469.2_Silent_p.K617K|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Silent_p.K617K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 617 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) AGTGTCCAAAGTGCGACACTG 0.542000 HNSCC(33;0.089) 31 125 0 0 0.003271 0 0 SEMA4B 10509 broad.mit.edu 37 15 90771572 90771572 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:90771572C>G ENST00000411539.2 + 14 2471 c.2211C>G c.(2209-2211)ctC>ctG p.L737L SEMA4B_ENST00000379122.3_Intron|SEMA4B_ENST00000332496.6_Silent_p.L737L NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) TATTCTTGCTCTACCGGCACC 0.607000 8 12 0 0 0.006214 0 0 POP1 10940 broad.mit.edu 37 8 99170455 99170455 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:99170455G>T ENST00000401707.2 + 16 3112 c.3031G>T c.(3031-3033)Gcc>Tcc p.A1011S POP1_ENST00000349693.3_Missense_Mutation_p.A1011S NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 1011 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) GAGGCCTCCCGCCTCTCTGCA 0.527000 45 142 2.77807e-22 4.82507e-22 0.013114 1 0 AUTS2 26053 broad.mit.edu 37 7 70231275 70231275 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:70231275C>T ENST00000342771.4 + 9 1965 c.1644C>T c.(1642-1644)caC>caT p.H548H AUTS2_ENST00000406775.2_Silent_p.H548H NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 548 His-rich. breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGTTCCCCCACGCCATCCCAC 0.617000 6 19 0 0 0.001984 0 0 CLCN1 1180 broad.mit.edu 37 7 143016943 143016943 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:143016943T>C ENST00000343257.2 + 2 363 c.276T>C c.(274-276)gaT>gaC p.D92D NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 92 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ACAGCAAGGATGAGGATCACT 0.463000 36 49 0 0 0.008740 0 0 CFHR4 10877 broad.mit.edu 37 1 196884257 196884257 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:196884257C>A ENST00000367416.2 + 9 1663 c.1526C>A c.(1525-1527)cCa>cAa p.P509Q CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.P263Q|CFHR4_ENST00000367418.1_Missense_Mutation_p.P263Q NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TCGGAACCACCAAGATGCATA 0.353000 32 62 1.57019e-19 2.61144e-19 0.007835 1 0 MYO15A 51168 broad.mit.edu 37 17 18023703 18023703 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:18023703C>G ENST00000205890.5 + 2 1927 c.1589C>G c.(1588-1590)cCt>cGt p.P530R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 530 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TACGGCCACCCTTTCTGGGGC 0.701000 15 7 0 0 0.003163 0 0 OSBP 5007 broad.mit.edu 37 11 59368776 59368776 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:59368776C>G ENST00000263847.1 - 5 1583 c.1104G>C c.(1102-1104)atG>atC p.M368I NM_002556.2 NP_002547.1 P22059 OSBP1_HUMAN oxysterol binding protein 368 lipid transport Golgi membrane oxysterol binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 all_epithelial(135;0.000236) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) AATTTTCAGGCATGGTGATGA 0.393000 9 23 0 0 0.004482 0 0 ANK2 287 broad.mit.edu 37 4 114279970 114279970 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:114279970C>A ENST00000357077.4 + 38 10249 c.10196C>A c.(10195-10197)tCa>tAa p.S3399* ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Nonsense_Mutation_p.S3366*|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3366 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTTTGGATTCAAAGACCAAA 0.478000 35 12 2.68265e-12 3.75587e-12 0.002836 1 0 ALDH1A1 216 broad.mit.edu 37 9 75545838 75545838 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:75545838T>C ENST00000297785.3 - 3 323 c.269A>G c.(268-270)tAc>tGc p.Y90C ALDH1A1_ENST00000482210.1_5'UTR|ALDH1A1_ENST00000376939.1_Missense_Mutation_p.Y90C NM_000689.4 NP_000680.2 P00352 AL1A1_HUMAN aldehyde dehydrogenase 1 family, member A1 90 cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process cytosol aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1) 17 NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) AGCCAACTTGTATAATAGTCG 0.502000 62 12 0 0 0.003610 0 0 PLOD2 5352 broad.mit.edu 37 3 145841966 145841966 + Translation_Start_Site SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:145841966G>C ENST00000494950.1 - 0 254 PLOD2_ENST00000360060.3_Missense_Mutation_p.R54G|PLOD2_ENST00000282903.5_Missense_Mutation_p.R54G O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2 protein modification process|response to hypoxia rough endoplasmic reticulum membrane 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-lysine 5-dioxygenase activity|protein binding p.R54*(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Vitamin C(DB00126) TGCATAAATCGATGGAATCCA 0.318000 5 16 0 0 0.001168 0 0 SLC8A1 6546 broad.mit.edu 37 2 40366666 40366666 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:40366666G>T ENST00000406785.1 - 7 2501 c.2312C>A c.(2311-2313)tCc>tAc p.S771Y SLC8A1_ENST00000542024.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.S802Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000403092.1_Missense_Mutation_p.S807Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.S771Y|SLC8A1_ENST00000332839.4_Missense_Mutation_p.S807Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.S799Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.S771Y|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542756.1_Missense_Mutation_p.S802Y|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 807 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CATGAGGATGGAGACAATGAA 0.502000 31 24 8.58068e-18 1.392e-17 0.007291 1 0 OSBPL5 114879 broad.mit.edu 37 11 3114885 3114885 + Silent SNP G G A rs144394986 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:3114885G>A ENST00000263650.7 - 17 1977 c.1818C>T c.(1816-1818)gaC>gaT p.D606D OSBPL5_ENST00000348039.5_Silent_p.D538D|OSBPL5_ENST00000525498.1_Silent_p.D517D|OSBPL5_ENST00000542243.1_Silent_p.D237D|OSBPL5_ENST00000389989.3_Silent_p.D538D|OSBPL5_ENST00000478260.1_Silent_p.D60D NM_020896.3 NP_065947.1 Q9H0X9 OSBL5_HUMAN oxysterol binding protein-like 5 606 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 25 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) TGATAAACACGTCCCTGTCCT 0.687000 21 31 0 0 0.002780 0 0 ZNF185 7739 broad.mit.edu 37 X 152083700 152083700 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:152083700G>T ENST00000535861.1 + 3 225 c.177G>T c.(175-177)cgG>cgT p.R59R ZNF185_ENST00000370268.4_Silent_p.R59R|ZNF185_ENST00000318504.7_Silent_p.R59R|ZNF185_ENST00000539731.1_Silent_p.R59R|ZNF185_ENST00000449285.2_Silent_p.R59R|ZNF185_ENST00000324823.6_5'UTR NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 59 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) CCTCAGGCCGGAGTCGCGCCA 0.622000 7 11 2.7689e-08 3.48264e-08 0.001984 1 0 PRAMEF7 441871 broad.mit.edu 37 1 12979699 12979699 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:12979699C>G ENST00000361079.2 + 4 974 c.891C>G c.(889-891)gtC>gtG p.V297V PRAME family member 7 p.V297V(1) endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 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;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) TGGAGATGGTCGTTATGACCG 0.547000 45 138 0 0 0.003610 0 0 FAM135B 51059 broad.mit.edu 37 8 139323093 139323093 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:139323093C>A ENST00000395297.1 - 3 318 c.148G>T c.(148-150)Ggg>Tgg p.G50W NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 50 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCTGTCTGCCCAGCGATGGAG 0.557000 HNSCC(54;0.14) 8 107 0.000157383 0.000171915 0.003080 1 0 ITIH6 347365 broad.mit.edu 37 X 54783842 54783842 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:54783842T>C ENST00000218436.6 - 8 2694 c.2665A>G c.(2665-2667)Aga>Gga p.R889G NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 889 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CTGTCAGGTCTAGGAGGTAGT 0.517000 44 10 0 0 0.011902 0 0 TBC1D31 93594 broad.mit.edu 37 8 124105846 124105846 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:124105846T>C ENST00000287380.1 + 5 625 c.535T>C c.(535-537)Tta>Cta p.L179L TBC1D31_ENST00000522420.1_Silent_p.L74L|TBC1D31_ENST00000327098.5_Silent_p.L179L|TBC1D31_ENST00000309336.3_Silent_p.L179L|TBC1D31_ENST00000521676.1_Silent_p.L74L|TBC1D31_ENST00000378080.2_Silent_p.L74L NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CTTTCTACCATTAAGTAATAC 0.323000 11 80 0 0 0.001368 0 0 MEGF8 1954 broad.mit.edu 37 19 42860570 42860570 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:42860570G>T ENST00000334370.4 + 25 5021 c.4386G>T c.(4384-4386)ctG>ctT p.L1462L MEGF8_ENST00000251268.6_Silent_p.L1529L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1529 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TTGGGGGCCTGGGCCTGCCCC 0.632000 16 2 1.00905e-13 1.47476e-13 0.008871 1 0 WIPF1 7456 broad.mit.edu 37 2 175436453 175436453 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:175436453C>A ENST00000392547.2 - 5 1179 c.1080G>T c.(1078-1080)ccG>ccT p.P360P AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409891.1_Silent_p.P360P|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Silent_p.P360P|WIPF1_ENST00000409415.3_Silent_p.P360P|WIPF1_ENST00000392546.2_Silent_p.P360P|WIPF1_ENST00000359761.3_Silent_p.P360P NM_003387.4 NP_003378.3 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 360 Pro-rich. P -> PV (in Ref. 2; CAA60014). actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1) 32 TCTCACTGGGCGGGGGAGGAA 0.607000 34 106 9.45814e-24 1.67521e-23 0.004878 1 0 MBOAT2 129642 broad.mit.edu 37 2 9008594 9008594 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:9008594C>G ENST00000305997.3 - 9 1167 c.969G>C c.(967-969)ttG>ttC p.L323F MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 323 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GTTGAATTCTCAAATTGGAAA 0.363000 13 52 0 0 0.001855 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519556 113519556 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:113519556T>C ENST00000284601.3 - 4 1659 c.1591A>G c.(1591-1593)Aga>Gga p.R531G NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 531 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 AAATTTTTTCTTTGTTTTTCA 0.353000 11 63 0 0 0.008291 0 0 CA8 767 broad.mit.edu 37 8 61121394 61121394 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:61121394G>A ENST00000317995.4 - 8 1087 c.823C>T c.(823-825)Cgg>Tgg p.R275W NM_004056.4 NP_004047.3 P35219 CAH8_HUMAN carbonic anhydrase VIII 275 one-carbon metabolic process carbonate dehydratase activity|zinc ion binding endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1) 16 all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474) TGAGTGGGCCGAAAGTTGTCT 0.453000 16 70 0 0 0.004007 0 0 KCNT2 343450 broad.mit.edu 37 1 196227502 196227502 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:196227502C>A ENST00000367433.5 - 25 3062 c.2961G>T c.(2959-2961)cgG>cgT p.R987R KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.8_Silent_p.R1011R|KCNT2_ENST00000367431.4_Silent_p.R945R Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1011 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 TGCTTTTTCTCCGCAGCAAGG 0.512000 16 31 1.15088e-07 1.42187e-07 0.004007 1 0 HSD17B6 8630 broad.mit.edu 37 12 57167812 57167812 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:57167812C>T ENST00000554643.1 + 3 525 c.176C>T c.(175-177)gCg>gTg p.A59V HSD17B6_ENST00000322165.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555805.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000554150.1_Missense_Mutation_p.A59V|HSD17B6_ENST00000555159.1_Missense_Mutation_p.A59V O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 59 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) GTGCTGGCTGCGTGTCTGACG 0.597000 29 48 0 0 0.005443 0 0 OR2W3 343171 broad.mit.edu 37 1 248059389 248059389 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:248059389C>A ENST00000537741.1 + 3 758 c.501C>A c.(499-501)ccC>ccA p.P167P OR2W3_ENST00000360358.3_Silent_p.P167P Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, member 3 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3) 49 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TGCGCTTACCCCGCTGTGGGC 0.642000 15 43 3.27435e-08 4.09376e-08 0.002450 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125530445 125530445 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:125530445C>T ENST00000431078.1 + 17 2964 c.2600C>T c.(2599-2601)tCt>tTt p.S867F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 867 Laminin G-like 3. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CAGTCTCCTTCTCTTCTGAAT 0.527000 29 36 0 0 0.007291 0 0 MUC16 94025 broad.mit.edu 37 19 9082643 9082643 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:9082643C>A ENST00000397910.4 - 1 9375 c.9172G>T c.(9172-9174)Ggg>Tgg p.G3058W NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3059 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 ATGGAAGGCCCAAGAAATAGT 0.488000 39 36 9.45814e-24 1.67521e-23 0.004878 1 0 XPC 7508 broad.mit.edu 37 3 14200156 14200156 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:14200156C>A ENST00000285021.7 - 9 1441 c.1227G>T c.(1225-1227)caG>caT p.Q409H XPC_ENST00000449060.2_Missense_Mutation_p.Q372H NM_001145769.1|NM_004628.4 NP_001139241.1|NP_004619.3 Q01831 XPC_HUMAN xeroderma pigmentosum, complementation group C 409 Arg/Lys-rich (basic). nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal cytoplasm|nucleoplasm|XPC complex bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TTGCCTTCTCCTGCTTGTCTC 0.622000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 102 23 4.98428e-49 9.81207e-49 0.003610 1 0 SPTA1 6708 broad.mit.edu 37 1 158607982 158607982 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:158607982C>A ENST00000368148.3 - 36 5210 c.5030G>T c.(5029-5031)gGg>gTg p.G1677V SPTA1_ENST00000368147.3_Missense_Mutation_p.G1677V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1677 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) GTTGAAAGTCCCGCTGGAGAG 0.413000 23 19 6.44725e-10 8.47469e-10 0.002299 1 0 TOP2B 7155 broad.mit.edu 37 3 25660275 25660275 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:25660275G>C ENST00000435706.2 - 24 3315 c.3114C>G c.(3112-3114)ttC>ttG p.F1038L TOP2B_ENST00000264331.4_Missense_Mutation_p.F1043L|TOP2B_ENST00000542520.1_5'UTR Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa 1043 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GTAAATCAAAGAATTCTTTCA 0.353000 5 8 0 0 0.001984 0 0 GLT1D1 144423 broad.mit.edu 37 12 129360556 129360556 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:129360556T>A ENST00000442111.2 + 2 254 c.166T>A c.(166-168)Tgc>Agc p.C56S GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.C45S|GLT1D1_ENST00000281703.6_Missense_Mutation_p.C56S Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 56 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GGCTGAGAACTGCGAGGCTGC 0.478000 31 164 0 0 0.002836 0 0 TRPM2 7226 broad.mit.edu 37 21 45845686 45845686 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:45845686G>T ENST00000397928.1 + 25 4216 c.3771G>T c.(3769-3771)gtG>gtT p.V1257V TRPM2_ENST00000300481.9_Silent_p.V1237V|TRPM2_ENST00000397932.2_Silent_p.V1307V|TRPM2_ENST00000300482.5_Silent_p.V1257V|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 1257 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 GCTTCCCCGTGCCCAACGAGA 0.706000 9 2 1.12685e-05 1.29759e-05 0.004482 1 0 MYH2 4620 broad.mit.edu 37 17 10432175 10432175 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:10432175T>A ENST00000245503.5 - 27 3960 c.3576A>T c.(3574-3576)gaA>gaT p.E1192D MYH2_ENST00000397183.2_Missense_Mutation_p.E1192D|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1192 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 CCGCTGTGGCTTCATGCTGTA 0.587000 95 60 0 0 0.003610 0 0 USP32 84669 broad.mit.edu 37 17 58366009 58366009 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:58366009C>A ENST00000300896.4 - 5 640 c.446G>T c.(445-447)tGg>tTg p.W149L USP32_ENST00000393003.3_Missense_Mutation_p.W149L NM_032582.3 NP_115971.2 Q8NFA0 UBP32_HUMAN ubiquitin specific peptidase 32 149 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1) 62 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) TAGAAAAAGCCAATTTCTAAA 0.333000 9 27 0.00448238 0.00470763 0.004482 1 0 HECTD4 283450 broad.mit.edu 37 12 112686297 112686297 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:112686297C>G ENST00000550722.1 - 26 3927 c.3532G>C c.(3532-3534)Gtg>Ctg p.V1178L HECTD4_ENST00000377560.5_Missense_Mutation_p.V1152L|HECTD4_ENST00000430131.2_Missense_Mutation_p.V902L NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 TCCTCCATCACGTCTGGCTGA 0.353000 6 13 0 0 0.001168 0 0 CACNB4 785 broad.mit.edu 37 2 152698451 152698451 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:152698451A>T ENST00000360283.6 - 12 1426 c.1169T>A c.(1168-1170)cTc>cAc p.L390H CACNB4_ENST00000539935.1_Missense_Mutation_p.L423H|CACNB4_ENST00000427385.1_Missense_Mutation_p.L405H|CACNB4_ENST00000534999.1_Missense_Mutation_p.L389H|CACNB4_ENST00000397327.2_Missense_Mutation_p.L376H|CACNB4_ENST00000201943.5_Intron O00305 CACB4_HUMAN calcium channel, voltage-dependent, beta 4 subunit 423 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) ATATGGTGAGAGTGCCGTGGA 0.488000 25 103 0 0 0.008361 0 0 PPFIA2 8499 broad.mit.edu 37 12 82147851 82147851 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:82147851C>A ENST00000550584.2 - 2 445 c.150G>T c.(148-150)cgG>cgT p.R50R PPFIA2_ENST00000333447.7_Silent_p.R50R|PPFIA2_ENST00000549325.1_Silent_p.R50R|PPFIA2_ENST00000548586.1_Silent_p.R50R|PPFIA2_ENST00000549396.1_Silent_p.R50R|PPFIA2_ENST00000552948.1_Silent_p.R50R NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 309 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 CCTGGGTCTCCCGAAGGGTGT 0.527000 18 30 8.00594e-06 9.27004e-06 0.007413 1 0 GLDC 2731 broad.mit.edu 37 9 6604785 6604785 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:6604785C>T ENST00000321612.6 - 7 1012 c.e7-1 NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) AGGCCAGGCTCTAGAAAGGAA 0.498000 17 20 0 0 0.006122 0 0 CDH19 28513 broad.mit.edu 37 18 64218475 64218475 + Nonsense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:64218475T>A ENST00000262150.2 - 5 923 c.631A>T c.(631-633)Aaa>Taa p.K211* CDH19_ENST00000540086.1_Nonsense_Mutation_p.K211* NM_021153.2 NP_066976.1 Q9H159 CAD19_HUMAN cadherin 19, type 2 211 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7) 61 Esophageal squamous(42;0.0132) CTATCCATTTTAGAAGATATT 0.313000 23 20 0 0 0.005443 0 0 AVPR1A 552 broad.mit.edu 37 12 63543939 63543939 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:63543939C>A ENST00000299178.2 - 1 783 c.678G>T c.(676-678)gtG>gtT p.V226V NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 226 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) CCACGGGCGCCACAAAGATGC 0.622000 52 74 6.18754e-15 9.39368e-15 0.003610 1 0 AMER3 205147 broad.mit.edu 37 2 131521440 131521440 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:131521440G>T ENST00000423981.1 + 2 1905 c.1795G>T c.(1795-1797)Gcc>Tcc p.A599S AMER3_ENST00000321420.4_Missense_Mutation_p.A599S NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GTCCAGGGATGCCTCTCGAGA 0.597000 14 50 3.27435e-08 4.09376e-08 0.002450 1 0 SMARCD1 6602 broad.mit.edu 37 12 50481193 50481193 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:50481193T>C ENST00000394963.4 + 5 977 c.579T>C c.(577-579)gcT>gcC p.A193A SMARCD1_ENST00000381513.4_Silent_p.A193A NM_003076.4 NP_003067.3 Q96GM5 SMRD1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 193 Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo. chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex protein complex scaffold|transcription coactivator activity NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 18 TCAATCCGGCTAAGTCAGATG 0.517000 110 133 0 0 0.003610 0 0 SNHG14 104472715 broad.mit.edu 37 15 25339267 25339267 + RNA SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:25339267C>T ENST00000546682.1 + 0 1110 SNHG14_ENST00000553108.1_RNA|SNORD116-24_ENST00000384549.1_RNA|SNHG14_ENST00000549804.2_RNA NR_003361.1 CTTCGTTGAACTGAGGTCCAG 0.443000 19 66 0 0 0.006122 0 0 FSHR 2492 broad.mit.edu 37 2 49217719 49217719 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:49217719G>T ENST00000406846.2 - 5 551 c.432C>A c.(430-432)ctC>ctA p.L144L FSHR_ENST00000346173.3_Silent_p.L144L|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.L144L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 144 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAACTTTTTGGAGAGAATGAA 0.383000 Gonadal Dysgenesis, 46 XX 27 26 2.24059e-21 3.83316e-21 0.006320 1 0 ZFHX4 79776 broad.mit.edu 37 8 77761810 77761810 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:77761810C>T ENST00000521891.2 + 8 4156 c.3708C>T c.(3706-3708)gtC>gtT p.V1236V ZFHX4_ENST00000050961.6_Silent_p.V1191V|ZFHX4_ENST00000455469.2_Silent_p.V1191V|ZFHX4_ENST00000518282.1_Silent_p.V1210V NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1191 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) AGATGCACGTCCTATCACAGC 0.443000 HNSCC(33;0.089) 20 168 0 0 0.010504 0 0 INPP5B 3633 broad.mit.edu 37 1 38397621 38397621 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:38397621G>T ENST00000373023.2 - 7 589 c.496C>A c.(496-498)Cta>Ata p.L166I INPP5B_ENST00000373021.1_Missense_Mutation_p.L166I|INPP5B_ENST00000373024.3_Missense_Mutation_p.L166I|INPP5B_ENST00000373026.1_Missense_Mutation_p.L166I NM_005540.2 NP_005531.2 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 166 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1) 15 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CAGGTAACTAGGGCCGAGTTA 0.642000 14 31 9.31168e-06 1.07423e-05 0.001855 1 0 CCDC129 223075 broad.mit.edu 37 7 31691583 31691583 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:31691583T>A ENST00000319386.3 + 13 3291 c.2298T>A c.(2296-2298)cgT>cgA p.R766R CCDC129_ENST00000407970.3_Silent_p.R914R|CCDC129_ENST00000451887.2_Silent_p.R940R|CCDC129_ENST00000409210.1_Silent_p.R822R Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 914 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 AAACGTTACGTGAGGCCCTGA 0.483000 7 9 0 0 0.003080 0 0 OR6K6 128371 broad.mit.edu 37 1 158725560 158725560 + Silent SNP C C T rs149993086 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:158725560C>T ENST00000368144.2 + 1 1051 c.955C>T c.(955-957)Ctg>Ttg p.L319L NM_001005184.1 NP_001005184.1 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, member 6 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0378) CATCTATAGCCTGAAAAACAA 0.438000 24 64 0 0 0.003330 0 0 STAB2 55576 broad.mit.edu 37 12 104142758 104142758 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:104142758C>A ENST00000388887.2 + 59 6466 c.6262C>A c.(6262-6264)Cag>Aag p.Q2088K RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2088 EGF-like 16. 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 TTTCTGCAAACAGGACAACGG 0.577000 27 55 4.87955e-14 7.20726e-14 0.005443 1 0 SCN2A 6326 broad.mit.edu 37 2 166210893 166210893 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:166210893T>A ENST00000375437.2 + 17 3401 c.3111T>A c.(3109-3111)gaT>gaA p.D1037E SCN2A_ENST00000375427.2_Missense_Mutation_p.D1037E|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1037E|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1037E NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1037 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) AAGCTTTAGATGAAATTAAAC 0.343000 17 55 0 0 0.004990 0 0 DMD 1756 broad.mit.edu 37 X 31838176 31838176 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:31838176C>A ENST00000357033.4 - 50 7431 c.7225G>T c.(7225-7227)Gag>Tag p.E2409* DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.E2405* 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 2409 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) GCCTTCCACTCAGAGCTCAGA 0.413000 56 13 1.47633e-17 2.38264e-17 0.003610 1 0 MYH2 4620 broad.mit.edu 37 17 10446192 10446192 + Splice_Site SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:10446192C>G ENST00000245503.5 - 10 1288 c.904_splice c.e10+1 p.E302_splice MYH2_ENST00000397183.2_Splice_Site_p.E302_splice|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Splice_Site_p.E302_splice NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 302 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 CATTTCTTACCAATAAGTTCT 0.338000 8 2 0 0 0.003080 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107423241 107423241 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:107423241G>T ENST00000409382.3 - 6 2093 c.1483C>A c.(1483-1485)Ctg>Atg p.L495M ST6GAL2_ENST00000361686.4_Missense_Mutation_p.L495M NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 495 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 CCCATGTTCAGGCGCTGCACC 0.617000 37 39 1.04594e-18 1.71901e-18 0.006230 1 0 FAM135B 51059 broad.mit.edu 37 8 139155347 139155347 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:139155347G>A ENST00000395297.1 - 16 3716 c.3546C>T c.(3544-3546)gaC>gaT p.D1182D NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1182 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CTGCAAATGTGTCCATCTGGA 0.468000 HNSCC(54;0.14) 7 54 0 0 0.001984 0 0 TG 7038 broad.mit.edu 37 8 133961041 133961041 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:133961041C>T ENST00000220616.4 + 27 5294 c.5254C>T c.(5254-5256)Ctg>Ttg p.L1752L TG_ENST00000542445.1_Silent_p.L122L|TG_ENST00000377869.1_Silent_p.L1695L NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1752 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) CTGTGGGTTGCTGAGCTCACC 0.512000 36 257 0 0 0.005524 0 0 UGT2B4 7363 broad.mit.edu 37 4 70359506 70359506 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:70359506G>T ENST00000305107.6 - 2 821 c.775C>A c.(775-777)Cga>Aga p.R259R UGT2B4_ENST00000512583.1_Silent_p.R259R|UGT2B4_ENST00000381096.3_Silent_p.R123R|UGT2B4_ENST00000506580.1_5'UTR NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 259 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 CAGTAGTTTCGAATAAGCCAT 0.413000 29 17 4.22769e-11 5.71902e-11 0.006320 1 0 GFM1 85476 broad.mit.edu 37 3 158366915 158366915 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:158366915G>T ENST00000486715.1 + 5 1015 c.658G>T c.(658-660)Gaa>Taa p.E220* GFM1_ENST00000264263.5_Nonsense_Mutation_p.E220*|GFM1_ENST00000478576.1_Nonsense_Mutation_p.E220* NM_024996.5 NP_079272.4 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 220 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2) 22 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TCTTATTGAGGAACGAGCCAT 0.294000 17 48 6.94344e-10 9.06043e-10 0.006122 1 0 CGA 1081 broad.mit.edu 37 6 87796136 87796136 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:87796136C>A ENST00000369582.2 - 3 205 c.105G>T c.(103-105)acG>acT p.T35T NM_000735.3 NP_000726.1 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 35 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1) 15 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) TTTCCTGTAGCGTGCATTCTG 0.473000 15 33 2.23348e-06 2.64725e-06 0.004007 1 0 TNFRSF4 7293 broad.mit.edu 37 1 1149499 1149499 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:1149499C>A ENST00000379236.3 - 1 13 c.9G>T c.(7-9)gtG>gtT p.V3V NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 3 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCCGAGCCCCCACGCACATCC 0.692000 9 5 4.68919e-08 5.85099e-08 0.008291 1 0 CUL4B 8450 broad.mit.edu 37 X 119666391 119666391 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:119666391C>T ENST00000371322.5 - 18 2386 c.2325G>A c.(2323-2325)ctG>ctA p.L775L CUL4B_ENST00000336592.6_Silent_p.L780L|CUL4B_ENST00000404115.3_Silent_p.L793L NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 793 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GATTTTTCGCCAGAACTCTAG 0.378000 27 13 0 0 0.003271 0 0 COL4A1 1282 broad.mit.edu 37 13 110830546 110830546 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:110830546G>A ENST00000375820.4 - 32 2612 c.2491C>T c.(2491-2493)Ccc>Tcc p.P831S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 831 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) GGGAATCCGGGGAAACCCTTC 0.522000 23 37 0 0 0.002780 0 0 CADM3 57863 broad.mit.edu 37 1 159166837 159166837 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:159166837C>A ENST00000368125.4 + 7 1096 c.939C>A c.(937-939)acC>acA p.T313T CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T347T NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 313 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) CCTACTACACCCTCAATGTTA 0.488000 22 21 1.66031e-10 2.20087e-10 0.003954 1 0 DNER 92737 broad.mit.edu 37 2 230377550 230377550 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:230377550C>A ENST00000341772.4 - 6 1230 c.1096G>T c.(1096-1098)Gat>Tat p.D366Y NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 366 EGF-like 4. 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) TCATTTGCATCAATACAGCTC 0.443000 17 80 6.94344e-10 9.06043e-10 0.006122 1 0 CCDC136 64753 broad.mit.edu 37 7 128446887 128446887 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:128446887C>A ENST00000297788.4 + 9 1761 c.1394C>A c.(1393-1395)gCc>gAc p.A465D CCDC136_ENST00000487361.1_Missense_Mutation_p.A412D|CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 465 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 GATACGGTGGCCTCCTTCAAA 0.557000 18 14 6.94344e-10 9.06043e-10 0.006122 1 0 RD3 343035 broad.mit.edu 37 1 211652627 211652627 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:211652627C>A ENST00000367002.4 - 3 1502 c.339G>T c.(337-339)gaG>gaT p.E113D RD3_ENST00000484910.1_5'UTR NM_001164688.1|NM_183059.2 NP_001158160.1|NP_898882.1 Q7Z3Z2 RD3_HUMAN retinal degeneration 3 113 response to stimulus|visual perception central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689) GCTGGGACACCTCCTGCACCT 0.697000 4 7 2.56e-06 3.02853e-06 0.009096 1 0 SPAG6 9576 broad.mit.edu 37 10 22699966 22699966 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:22699966C>A ENST00000376603.2 + 10 1691 c.1549C>A c.(1549-1551)Ccg>Acg p.P517T SPAG6_ENST00000538630.1_Missense_Mutation_p.P416T|SPAG6_ENST00000376601.1_Missense_Mutation_p.P202T|SPAG6_ENST00000313311.6_Intron|SPAG6_ENST00000376624.3_Missense_Mutation_p.P441T|SPAG6_ENST00000490361.1_3'UTR|RP11-301N24.3_ENST00000422675.1_RNA O75602 SPAG6_HUMAN sperm associated antigen 6 441 cell projection organization|spermatid development axoneme|cilium|cytoplasm|flagellum|microtubule binding breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2) 27 CAAGGTGCTGCCGCATGATAG 0.363000 5 20 2.0095e-06 2.39081e-06 0.001984 1 0 MYO15A 51168 broad.mit.edu 37 17 18024001 18024001 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:18024001G>A ENST00000205890.5 + 2 2225 c.1887G>A c.(1885-1887)agG>agA p.R629R NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 629 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) TCGTGCTGAGGAGGGCCCAGC 0.741000 10 1 0 0 0.001368 0 0 HIPK2 28996 broad.mit.edu 37 7 139268706 139268706 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:139268706C>A ENST00000406875.3 - 13 2916 c.2822G>T c.(2821-2823)cGt>cTt p.R941L HIPK2_ENST00000342645.6_Missense_Mutation_p.R841L|HIPK2_ENST00000428878.2_Missense_Mutation_p.R914L NM_022740.4 NP_073577.3 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 941 Interaction with AXIN1 (By similarity).|Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding p.R941H(1) breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Melanoma(164;0.205) GTGCCCAGCACGCTGCTGCAC 0.577000 19 22 1.37522e-17 2.22233e-17 0.007413 1 0 PRKDC 5591 broad.mit.edu 37 8 48744433 48744433 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:48744433T>C ENST00000314191.2 - 61 8260 c.8204A>G c.(8203-8205)cAg>cGg p.Q2735R PRKDC_ENST00000338368.3_Missense_Mutation_p.Q2735R|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2736 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) GAGCTTCTCCTGGTCCCTCAT 0.537000 Non-homologous end-joining 46 370 0 0 0.003610 0 0 COL2A1 1280 broad.mit.edu 37 12 48367956 48367956 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:48367956C>A ENST00000380518.3 - 53 4397 c.4233G>T c.(4231-4233)ctG>ctT p.L1411L COL2A1_ENST00000337299.6_Silent_p.L1342L|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1411 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CCTGGATGAGCAGGGCCTTCT 0.587000 11 74 3.07112e-06 3.61274e-06 0.010729 1 0 DPH6 89978 broad.mit.edu 37 15 35742886 35742886 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:35742886C>A ENST00000256538.4 - 5 531 c.505_splice c.e5+1 p.G169_splice NM_080650.3 NP_542381.1 diphthamine biosynthesis 6 GGCTGCATACCCAAAGCTGCT 0.373000 14 37 6.81908e-15 1.03399e-14 0.002450 1 0 DUPD1 338599 broad.mit.edu 37 10 76803615 76803615 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:76803615G>T ENST00000338487.5 - 2 360 c.361C>A c.(361-363)Ctc>Atc p.L121I NM_001003892.1 NP_001003892.1 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase domain containing 1 121 Tyrosine-protein phosphatase. cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1) 11 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) AAGACACTGAGGTCGAAGGTG 0.682000 47 45 6.08268e-21 1.03496e-20 0.003610 1 0 OTUD6A 139562 broad.mit.edu 37 X 69282977 69282977 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:69282977C>T ENST00000338352.2 + 1 637 c.603C>T c.(601-603)gaC>gaT p.D201D NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 201 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 TCGGCTACGACGACTTCATGA 0.622000 14 22 0 0 0.003163 0 0 CPA5 93979 broad.mit.edu 37 7 129987644 129987644 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:129987644C>T ENST00000485477.1 + 3 1283 c.154C>T c.(154-156)Cag>Tag p.Q52* CPA5_ENST00000393213.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000474905.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000355388.3_Nonsense_Mutation_p.Q52*|CPA5_ENST00000461828.1_Nonsense_Mutation_p.Q52*|CPA5_ENST00000431780.2_Nonsense_Mutation_p.Q52*|CPA5_ENST00000466363.2_Nonsense_Mutation_p.Q52* Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 52 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2) 23 Melanoma(18;0.0435) AGATGAGAAGCAGCTTTCACT 0.582000 15 15 0 0 0.003163 0 0 ENGASE 64772 broad.mit.edu 37 17 77077076 77077076 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:77077076G>T ENST00000579016.1 + 6 793 c.793G>T c.(793-795)Ggg>Tgg p.G265W ENGASE_ENST00000539857.2_Missense_Mutation_p.G79W NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 265 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GCAGGTCCCAGGGGGCCTGGT 0.592000 15 33 2.31682e-05 2.62211e-05 0.003163 1 0 OR10S1 219873 broad.mit.edu 37 11 123847878 123847878 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:123847878G>T ENST00000531945.1 - 1 610 c.521C>A c.(520-522)aCc>aAc p.T174N NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 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;0.0399) GGTGAGGGAGGTGTGGATTGC 0.572000 25 26 1.64293e-13 2.38178e-13 0.003330 1 0 HERC2 8924 broad.mit.edu 37 15 28515907 28515907 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:28515907C>A ENST00000261609.7 - 10 1299 c.1191G>T c.(1189-1191)atG>atT p.M397I NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 397 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) CTAAATGGGCCATGACAACAA 0.537000 17 40 4.14922e-12 5.78124e-12 0.004007 1 0 SPTBN2 6712 broad.mit.edu 37 11 66457400 66457400 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:66457400G>A ENST00000533211.1 - 29 6156 c.5825C>T c.(5824-5826)gCg>gTg p.A1942V SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1942V|SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1942V O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 1942 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 GACTAGATCCGCGGAGGACAC 0.632000 27 53 0 0 0.006320 0 0 ZNF136 7695 broad.mit.edu 37 19 12297713 12297713 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:12297713G>A ENST00000343979.4 + 4 660 c.520G>A c.(520-522)Gga>Aga p.G174R ZNF136_ENST00000398616.2_Missense_Mutation_p.G108R NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 174 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 TAAGGAATGTGGAAAAACCTT 0.378000 3 9 0 0 0.004672 0 0 INPP4B 8821 broad.mit.edu 37 4 143114323 143114323 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:143114323C>T ENST00000513000.1 - 16 1531 c.1098G>A c.(1096-1098)gtG>gtA p.V366V INPP4B_ENST00000262992.4_Silent_p.V366V|INPP4B_ENST00000509777.1_Silent_p.V366V|INPP4B_ENST00000508116.1_Silent_p.V366V|INPP4B_ENST00000308502.4_Silent_p.V366V NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 366 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) CTGGGGCTCCCACAGTGATGA 0.428000 66 17 0 0 0.003610 0 0 TRAK2 66008 broad.mit.edu 37 2 202251067 202251067 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:202251067C>A ENST00000332624.3 - 14 2265 c.1837G>T c.(1837-1839)Gat>Tat p.D613Y NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 613 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 TCCTCTTCATCCTCTTCTAAA 0.453000 20 58 3.51602e-12 4.90443e-12 0.008871 1 0 KALRN 8997 broad.mit.edu 37 3 124053317 124053317 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:124053317G>T ENST00000360013.3 + 9 1743 c.1616G>T c.(1615-1617)tGc>tTc p.C539F KALRN_ENST00000460856.1_Missense_Mutation_p.C539F|KALRN_ENST00000240874.3_Missense_Mutation_p.C539F NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 539 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTGCAGCTCTGCGTCTTCCAG 0.602000 24 11 3.5997e-14 5.34204e-14 0.002299 1 0 GABRA3 2556 broad.mit.edu 37 X 151393252 151393252 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:151393252G>A ENST00000370314.4 - 6 855 c.617C>T c.(616-618)cCa>cTa p.P206L GABRA3_ENST00000535043.1_Missense_Mutation_p.P206L|GABRA3_ENST00000370311.1_Missense_Mutation_p.P206L NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 206 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAACTTCAGTGGGCAGGCATG 0.368000 22 63 0 0 0.002299 0 0 COL24A1 255631 broad.mit.edu 37 1 86308023 86308023 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:86308023C>T ENST00000370571.2 - 40 3882 c.3516_splice c.e40+1 p.R1172_splice COL24A1_ENST00000436319.1_Splice_Site_p.R1172_splice NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 1172 Collagen-like 12. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) AAATACTTACCCTGTACCCTG 0.303000 4 9 0 0 0.009096 0 0 PANX1 24145 broad.mit.edu 37 11 93913962 93913962 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:93913962A>G ENST00000227638.3 + 5 1593 c.1208A>G c.(1207-1209)aAc>aGc p.N403S PANX1_ENST00000436171.2_Intron NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 403 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ACAGGTATGAACATAGACAGT 0.338000 9 20 0 0 0.006214 0 0 BLK 640 broad.mit.edu 37 8 11415488 11415488 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:11415488C>A ENST00000259089.4 + 10 1562 c.970C>A c.(970-972)Ctg>Atg p.L324M BLK_ENST00000529894.1_Missense_Mutation_p.L253M|RP11-148O21.4_ENST00000528629.1_RNA NM_001715.2 NP_001706.2 P51451 BLK_HUMAN B lymphoid tyrosine kinase 324 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1) 27 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) GCTGGATTTCCTGAAGACAGA 0.557000 22 10 6.21321e-17 9.83759e-17 0.002780 1 0 GABRA2 2555 broad.mit.edu 37 4 46305630 46305630 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:46305630C>A ENST00000510861.1 - 8 877 c.e8-1 GABRA2_ENST00000356504.1_Splice_Site|GABRA2_ENST00000540012.1_Splice_Site|GABRA2_ENST00000515082.1_Splice_Site|GABRA2_ENST00000514090.1_Splice_Site|GABRA2_ENST00000507069.1_Splice_Site|GABRA2_ENST00000381620.4_Splice_Site P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GTATATTCACCTGGAAGAAAA 0.333000 9 23 0.00448238 0.00470763 0.004482 1 0 SLC5A4 6527 broad.mit.edu 37 22 32617003 32617003 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:32617003G>T ENST00000266086.4 - 14 1683 c.1672C>A c.(1672-1674)Cgc>Agc p.R558S RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 558 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CAGCACAGGCGGTACAGCTGA 0.403000 41 7 1.58521e-26 2.86847e-26 0.005524 1 0 IGKV2D-24 28885 broad.mit.edu 37 2 90044287 90044287 + RNA SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:90044287A>T ENST00000462693.1 + 0 238 CCAGCCTCCAAGACTCCTAAT 0.522000 37 121 0 0 0.007835 0 0 EIF3F 8665 broad.mit.edu 37 11 8009161 8009161 + Missense_Mutation SNP G G A rs143020927 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:8009161G>A ENST00000533626.1 + 3 888 c.262G>A c.(262-264)Ggc>Agc p.G88S EIF3F_ENST00000309828.4_Missense_Mutation_p.G88S|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000537635.1_Missense_Mutation_p.G103S O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 88 MPN. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCCTTCCCCGGCGGCCGCGT 0.672000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 12 0 0 0.008291 0 0 SLC18A3 6572 broad.mit.edu 37 10 50819209 50819209 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:50819209G>T ENST00000374115.3 + 1 863 c.423G>T c.(421-423)ttG>ttT p.L141F CHAT_ENST00000339797.1_Intron NM_003055.2 NP_003046.2 Q16572 VACHT_HUMAN solute carrier family 18 (vesicular acetylcholine transporter), member 3 141 neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 43 TGAACCCCTTGAGCGGGCCCT 0.622000 51 14 1.21353e-23 2.14033e-23 0.003610 1 0 KCNA4 3739 broad.mit.edu 37 11 30032812 30032812 + Nonsense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:30032812T>A ENST00000328224.6 - 2 2647 c.1414A>T c.(1414-1416)Aga>Tga p.R472* NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 472 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 ATGCTGGCTCTGAGGGTGTGG 0.527000 14 61 0 0 0.002450 0 0 DSC1 1823 broad.mit.edu 37 18 28736079 28736079 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:28736079T>C ENST00000257197.3 - 4 659 c.398A>G c.(397-399)aAg>aGg p.K133R DSC1_ENST00000257198.5_Missense_Mutation_p.K133R|RP11-408H20.2_ENST00000581836.1_RNA NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 133 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCATCGTCTCTTGCTGCGCTT 0.408000 27 62 0 0 0.005443 0 0 AACS 65985 broad.mit.edu 37 12 125612781 125612781 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:125612781C>T ENST00000316519.6 + 13 1590 c.1384C>T c.(1384-1386)Cgg>Tgg p.R462W AACS_ENST00000261686.6_Missense_Mutation_p.R462W|AACS_ENST00000316543.10_Missense_Mutation_p.R60W|AACS_ENST00000545511.1_Silent_p.P41P NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 462 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding p.R462R(1) breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GATTCAGGCCCGGAACCTGGG 0.542000 11 34 0 0 0.010729 0 0 WDR70 55100 broad.mit.edu 37 5 37396476 37396476 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:37396476G>T ENST00000265107.4 + 5 452 c.e5-1 WDR70_ENST00000504564.1_Splice_Site NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTATTTTCAGGGATACGAGC 0.398000 49 54 8.72198e-27 1.58054e-26 0.003610 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110467032 110467032 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:110467032C>T ENST00000378402.5 + 45 6929 c.6825C>T c.(6823-6825)gtC>gtT p.V2275V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2275 G8 1. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGCTCCCTGTCTATGGTGCCA 0.522000 HNSCC(38;0.096) 75 42 0 0 0.003610 0 0 USH2A 7399 broad.mit.edu 37 1 216019345 216019345 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:216019345T>G ENST00000366943.2 - 45 9262 c.8876A>C c.(8875-8877)tAt>tCt p.Y2959S USH2A_ENST00000307340.3_Missense_Mutation_p.Y2959S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2959 Fibronectin type-III 16. 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) AAGTGTGTAATATTCAACTTC 0.393000 HNSCC(13;0.011) 20 9 0 0 0.012319 0 0 GRM7 2917 broad.mit.edu 37 3 7188305 7188305 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:7188305G>C ENST00000486284.1 + 2 960 c.686G>C c.(685-687)aGt>aCt p.S229T GRM7_ENST00000402647.2_Missense_Mutation_p.S229T|GRM7_ENST00000389336.4_Missense_Mutation_p.S229T|GRM7_ENST00000403881.1_Missense_Mutation_p.S229T|GRM7_ENST00000357716.4_Missense_Mutation_p.S229T NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 229 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TCGGAAGGAAGTTATGGAGAG 0.522000 24 16 0 0 0.004656 0 0 GLT1D1 144423 broad.mit.edu 37 12 129431967 129431967 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:129431967C>T ENST00000442111.2 + 10 832 c.744C>T c.(742-744)agC>agT p.S248S GLT1D1_ENST00000542193.1_Silent_p.S165S|GLT1D1_ENST00000537468.1_Silent_p.S253S|GLT1D1_ENST00000281703.6_Silent_p.S168S Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 248 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) TGGTGAATAGCTCTGTCTCTG 0.473000 24 47 0 0 0.003954 0 0 NOL4 8715 broad.mit.edu 37 18 31463354 31463354 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:31463354G>T ENST00000261592.5 - 10 1874 c.1577C>A c.(1576-1578)cCa>cAa p.P526Q NOL4_ENST00000538587.1_Missense_Mutation_p.P452Q|NOL4_ENST00000535384.1_Missense_Mutation_p.P241Q|NOL4_ENST00000269185.4_Missense_Mutation_p.P310Q|NOL4_ENST00000589544.1_Missense_Mutation_p.P424Q|NOL4_ENST00000535475.1_Missense_Mutation_p.P307Q NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 526 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GGTCGCCTCTGGTTTACACTG 0.468000 39 43 9.8876e-21 1.67329e-20 0.004878 1 0 AEBP1 165 broad.mit.edu 37 7 44153353 44153353 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:44153353C>G ENST00000223357.3 + 21 3275 c.2970C>G c.(2968-2970)atC>atG p.I990M AEBP1_ENST00000450684.2_Missense_Mutation_p.I565M NM_001129.3 NP_001120.3 Q8IUX7 AEBP1_HUMAN AE binding protein 1 990 Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2) 33 GGAAGCGCATCCGGGAGATCA 0.617000 21 98 0 0 0.010504 0 0 UBE2E3 10477 broad.mit.edu 37 2 181922478 181922478 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:181922478G>T ENST00000410062.4 + 4 697 c.304G>T c.(304-306)Ggt>Tgt p.G102C UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.G102C|UBE2E3_ENST00000392415.2_Missense_Mutation_p.G102C|UBE2E3_ENST00000602959.1_Missense_Mutation_p.G102C NM_006357.2 NP_006348.1 Q969T4 UB2E3_HUMAN ubiquitin-conjugating enzyme E2E 3 102 protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth cytoplasm|nucleolus ATP binding|protein binding|ubiquitin-protein ligase activity breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1) 11 TGGTCCACCGGGTTCTGTATA 0.343000 19 109 1.28384e-07 1.58302e-07 0.012319 1 0 PADI1 29943 broad.mit.edu 37 1 17531764 17531764 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:17531764G>T ENST00000375471.4 + 1 144 c.52G>T c.(52-54)Gtg>Ttg p.V18L NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 18 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TACCCATGCCGTGTGTGTGGT 0.592000 22 6 1.50039e-11 2.05179e-11 0.012319 1 0 TTN 7273 broad.mit.edu 37 2 179528591 179528591 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179528591C>T ENST00000589042.1 - 170 36627 c.36403G>A c.(36403-36405)Gtg>Atg p.V12135M TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10284 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) GCCAAGGGCACTTTCTCTTCG 0.408000 58 193 0 0 0.003610 0 0 XYLT1 64131 broad.mit.edu 37 16 17221621 17221621 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:17221621C>A ENST00000261381.6 - 10 2209 c.2125G>T c.(2125-2127)Gtg>Ttg p.V709L NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 709 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 AGTTTGCTCACAGCCAGATTG 0.522000 85 103 1.68737e-39 3.25032e-39 0.003610 1 0 RC3H2 54542 broad.mit.edu 37 9 125621336 125621336 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:125621336C>A ENST00000373670.1 - 11 2495 c.1895G>T c.(1894-1896)tGt>tTt p.C632F RC3H2_ENST00000357244.2_Missense_Mutation_p.C632F|RC3H2_ENST00000423239.2_Missense_Mutation_p.C632F Q9HBD1 RC3H2_HUMAN ring finger and CCCH-type domains 2 632 Pro-rich. cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 GCGAGGAACACAGGGAGCCAC 0.453000 9 19 0.000274275 0.000296245 0.004482 1 0 EPHA5 2044 broad.mit.edu 37 4 66280009 66280009 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:66280009G>T ENST00000273854.3 - 7 2280 c.1680C>A c.(1678-1680)acC>acA p.T560T EPHA5_ENST00000511294.1_Silent_p.T560T|EPHA5_ENST00000432638.2_Silent_p.T396T|EPHA5_ENST00000354839.4_Silent_p.T560T NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 560 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TACACACTGGGGTGGTTTCAA 0.453000 TSP Lung(17;0.13) 28 5 3.65163e-15 5.57752e-15 0.006320 1 0 DSG2 1829 broad.mit.edu 37 18 29116302 29116302 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:29116302G>T ENST00000261590.8 + 11 1770 c.1561G>T c.(1561-1563)Gat>Tat p.D521Y NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 521 cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) AGAGGACCTGGATGGACACCC 0.463000 34 36 5.04308e-16 7.89516e-16 0.006230 1 0 APOA4 337 broad.mit.edu 37 11 116693874 116693874 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:116693874G>T ENST00000357780.3 - 1 148 c.34C>A c.(34-36)Ctg>Atg p.L12M NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ACAGCCACCAGGGCCAGGGTC 0.587000 66 88 3.07281e-33 5.80318e-33 0.003610 1 0 RYR3 6263 broad.mit.edu 37 15 33893708 33893708 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:33893708G>T ENST00000389232.4 + 17 1947 c.1877G>T c.(1876-1878)cGg>cTg p.R626L RYR3_ENST00000415757.3_Missense_Mutation_p.R626L NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 626 B30.2/SPRY 1. 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) TTGCTGCCCCGGAGAAACCTA 0.527000 5 22 1.23904e-05 1.42025e-05 0.000602 1 0 MYH4 4622 broad.mit.edu 37 17 10358039 10358039 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:10358039G>T ENST00000255381.2 - 22 2634 c.2524C>A c.(2524-2526)Ccc>Acc p.P842T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 842 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.P842T(1) 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 TTGAGGAGGGGCTTGATCTTG 0.453000 51 49 1.07234e-20 1.81229e-20 0.003610 1 0 GDPD3 79153 broad.mit.edu 37 16 30124062 30124062 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:30124062C>A ENST00000406256.3 - 3 612 c.235G>T c.(235-237)Gac>Tac p.D79Y NM_024307.2 NP_077283.2 Q7L5L3 GDPD3_HUMAN glycerophosphodiester phosphodiesterase domain containing 3 79 GDPD. glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6) 11 ACCACTCTGTCCCGTGTCAGC 0.657000 OREG0023731 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 50 4.78724e-31 8.93334e-31 0.003610 1 0 LAMB4 22798 broad.mit.edu 37 7 107704254 107704254 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:107704254G>T ENST00000388781.3 - 22 3096 c.3013C>A c.(3013-3015)Ctc>Atc p.L1005I LAMB4_ENST00000388780.3_Missense_Mutation_p.L1005I|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1005I NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1005 Laminin EGF-like 10. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGTTTGCAGAGCTGGCAGTTT 0.522000 118 53 2.12763e-61 4.22828e-61 0.003610 1 0 FSHR 2492 broad.mit.edu 37 2 49195959 49195959 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:49195959C>A ENST00000406846.2 - 9 851 c.732G>T c.(730-732)ctG>ctT p.L244L FSHR_ENST00000346173.3_Intron|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000304421.4_Silent_p.L218L NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 244 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACCTGGCCCTCAGCTTCTTAA 0.433000 Gonadal Dysgenesis, 46 XX 35 21 1.90571e-15 2.92862e-15 0.004289 1 0 TRPC5 7224 broad.mit.edu 37 X 111155752 111155752 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:111155752G>T ENST00000262839.2 - 3 1585 c.667C>A c.(667-669)Ctg>Atg p.L223M NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 223 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TCCCAGCCCAGACGGAAGGCA 0.557000 44 106 9.84934e-19 1.62088e-18 0.010771 1 0 LRP1B 53353 broad.mit.edu 37 2 141093184 141093184 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:141093184C>T ENST00000389484.3 - 78 13087 c.12116_splice c.e78+1 p.G4039_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4039 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) ATTAACCTACCCTCTTTTAGG 0.368000 TSP Lung(27;0.18) 22 88 0 0 0.012319 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733126 52733126 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:52733126T>A ENST00000360540.5 - 7 1265 c.859A>T c.(859-861)Act>Tct p.T287S PCMTD1_ENST00000522514.1_Missense_Mutation_p.T287S|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.T211S NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 287 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) AATACGTAAGTGTTAATTCTC 0.393000 6 126 0 0 0.008291 0 0 ENPP2 5168 broad.mit.edu 37 8 120629482 120629482 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:120629482C>A ENST00000427067.2 - 7 747 c.565_splice c.e7-1 p.R189_splice ENPP2_ENST00000522826.1_Splice_Site_p.R193_splice|ENPP2_ENST00000075322.6_Splice_Site_p.R193_splice|ENPP2_ENST00000259486.6_Splice_Site_p.R193_splice Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 193 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGCCACAAGACCCTGGAAAGA 0.383000 11 45 3.07112e-06 3.61274e-06 0.010729 1 0 SLC35F2 54733 broad.mit.edu 37 11 107663485 107663485 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:107663485C>A ENST00000525071.1 - 11 1562 c.974G>T c.(973-975)tGg>tTg p.W325L SLC35F2_ENST00000429869.1_Silent_p.V327V|SLC35F2_ENST00000375682.4_Silent_p.V280V|SLC35F2_ENST00000525815.1_Silent_p.V327V|SLC35F2_ENST00000265836.7_Silent_p.V179V Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 329 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) GGATAAACCCCACCATGATGA 0.547000 9 15 2.17888e-05 2.47492e-05 0.006214 1 0 SLC12A5 57468 broad.mit.edu 37 20 44676202 44676202 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:44676202G>T ENST00000454036.1 + 15 2042 c.1966G>T c.(1966-1968)Gag>Tag p.E656* SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.E633* NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 656 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CAAGTACATTGAGTACCGTgg 0.572000 32 74 2.42023e-17 3.87608e-17 0.003271 1 0 PPP1R16B 26051 broad.mit.edu 37 20 37546873 37546873 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:37546873C>A ENST00000299824.1 + 11 1457 c.1268C>A c.(1267-1269)cCt>cAt p.P423H PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P381H NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 423 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CTGGACATGCCTGTTGAGAAT 0.577000 42 139 2.59497e-14 3.86931e-14 0.007835 1 0 DHRS4 10901 broad.mit.edu 37 14 24424307 24424307 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:24424307G>A ENST00000313250.5 + 2 395 c.192G>A c.(190-192)cgG>cgA p.R64R DHRS4_ENST00000397073.2_Silent_p.R46R|DHRS4_ENST00000543741.2_Silent_p.R64R|DHRS4_ENST00000397074.3_Silent_p.R64R|DHRS4_ENST00000397075.3_Silent_p.R64R|DHRS4_ENST00000558581.1_Silent_p.R64R|DHRS4_ENST00000382761.3_Silent_p.R46R|DHRS4_ENST00000421831.1_Silent_p.R46R|DHRS4_ENST00000559632.1_Silent_p.R64R|DHRS4_ENST00000308178.8_Silent_p.R46R|DHRS4_ENST00000558263.1_Silent_p.R64R NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 64 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TCAGCAGCCGGAAGCAGCAGA 0.667000 21 62 0 0 0.012319 0 0 PDE10A 10846 broad.mit.edu 37 6 165846533 165846533 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:165846533C>A ENST00000366882.1 - 8 746 c.592G>T c.(592-594)Ggt>Tgt p.G198C PDE10A_ENST00000539869.2_Missense_Mutation_p.G208C|PDE10A_ENST00000354448.4_Missense_Mutation_p.G198C Q9Y233 PDE10_HUMAN phosphodiesterase 10A 198 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) ATCAAGTCACCAATTGCAGTG 0.443000 17 23 1.5739e-10 2.09075e-10 0.004007 1 0 NRCAM 4897 broad.mit.edu 37 7 107872908 107872908 + Missense_Mutation SNP T T C rs150121000 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:107872908T>C ENST00000379028.3 - 7 759 c.289A>G c.(289-291)Atg>Gtg p.M97V NRCAM_ENST00000425651.2_Missense_Mutation_p.M97V|NRCAM_ENST00000351718.4_Missense_Mutation_p.M91V|NRCAM_ENST00000413765.2_Missense_Mutation_p.M97V|NRCAM_ENST00000379022.4_Missense_Mutation_p.M97V|NRCAM_ENST00000379024.4_Missense_Mutation_p.M97V Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 97 Ig-like 1. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CCAGGCTTCATGGTGACCAGA 0.473000 35 89 0 0 0.003755 0 0 IGDCC4 57722 broad.mit.edu 37 15 65684694 65684694 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:65684694C>T ENST00000352385.2 - 11 2109 c.1900G>A c.(1900-1902)Gca>Aca p.A634T NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 634 Fibronectin type-III 3. integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 TTCAACTCTGCAGGGGCAAAA 0.557000 13 34 0 0 0.001855 0 0 MIR876 100126310 broad.mit.edu 37 9 28863632 28863632 + RNA SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:28863632T>A ENST00000401147.1 - 0 72 NR_030597.1 TGTGAAGCACTATGAATTACT 0.403000 24 24 0 0 0.003954 0 0 DDX23 9416 broad.mit.edu 37 12 49233639 49233639 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:49233639T>C ENST00000308025.3 - 5 547 c.468A>G c.(466-468)gaA>gaG p.E156E DDX23_ENST00000553182.1_5'UTR NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 156 Glu-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 TAGCCTCAGCTTCTTCCTCAG 0.453000 19 27 0 0 0.012319 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020721 33020721 + RNA SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:33020721C>T ENST00000565407.2 + 0 129 RP11-19N8.2_ENST00000567619.1_RNA CCTGTCCAGCCTCTGGATTCA 0.567000 135 163 0 0 0.003610 0 0 NARS2 79731 broad.mit.edu 37 11 78204233 78204233 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:78204233G>A ENST00000281038.5 - 7 1073 c.698C>T c.(697-699)aCt>aTt p.T233I NARS2_ENST00000528850.1_Missense_Mutation_p.T6I NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 233 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) AAACACTTGAGTAAAAGCTCT 0.353000 23 31 0 0 0.003954 0 0 APOA4 337 broad.mit.edu 37 11 116692386 116692386 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:116692386C>A ENST00000357780.3 - 3 502 c.388G>T c.(388-390)Gag>Tag p.E130* NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) tgctgaagctctcgcaggttg 0.667000 11 15 1.58986e-06 1.89875e-06 0.008291 1 0 COL6A2 1292 broad.mit.edu 37 21 47537831 47537831 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:47537831G>A ENST00000300527.4 + 12 1201 c.1097G>A c.(1096-1098)cGa>cAa p.R366Q COL6A2_ENST00000409416.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000397763.1_Missense_Mutation_p.R366Q|COL6A2_ENST00000357838.4_Missense_Mutation_p.R366Q|COL6A2_ENST00000310645.5_Missense_Mutation_p.R366Q NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 366 Triple-helical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CCAGGGGAGCGAGGAGACCAA 0.682000 10 18 0 0 0.010729 0 0 SERPINE1 5054 broad.mit.edu 37 7 100773862 100773862 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:100773862C>A ENST00000223095.4 + 3 589 c.432C>A c.(430-432)gtC>gtA p.V144V SERPINE1_ENST00000445463.2_Silent_p.V129V NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 144 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) GGAGCACGGTCAAGCAAGTGG 0.537000 116 120 1.01443e-56 2.00645e-56 0.003610 1 0 RIMS2 9699 broad.mit.edu 37 8 104709475 104709475 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:104709475C>A ENST00000406091.3 + 2 338 c.338C>A c.(337-339)aCa>aAa p.T113K NM_001100117.2 NP_001093587.1 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 144 RabBD. 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) TATTGCCAAACAAAGTTCTGT 0.418000 HNSCC(12;0.0054) 42 140 4.18559e-23 7.3102e-23 0.003610 1 0 GPRIN2 9721 broad.mit.edu 37 10 46999723 46999723 + Missense_Mutation SNP G G T rs71265691 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:46999723G>T ENST00000374314.4 + 1 1798 c.843G>T c.(841-843)agG>agT p.R281S GPRIN2_ENST00000374317.1_Missense_Mutation_p.R281S O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 281 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 TCCACTGTAGGTTGTCTGGGG 0.602000 23 40 5.35047e-06 6.2472e-06 0.003330 1 0 SH2D1B 117157 broad.mit.edu 37 1 162372571 162372571 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:162372571T>G ENST00000367929.2 - 2 265 c.156A>C c.(154-156)acA>acC p.T52T SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Silent_p.T52T NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 52 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGATTCGGTATGTGTAGACAA 0.368000 7 33 0 0 0.001984 0 0 SECTM1 6398 broad.mit.edu 37 17 80282697 80282697 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:80282697C>A ENST00000269389.3 - 3 514 c.164G>T c.(163-165)tGc>tTc p.C55F SECTM1_ENST00000580437.1_Missense_Mutation_p.C55F NM_003004.2 NP_002995.1 Q8WVN6 SCTM1_HUMAN secreted and transmembrane 1 55 immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade extracellular space|Golgi apparatus|integral to membrane|plasma membrane cytokine activity|signal transducer activity endometrium(1)|large_intestine(2)|lung(1) 4 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) GGAGATGTTGCAGGACATGAC 0.602000 3 9 6.4e-05 7.11016e-05 0.004672 1 0 PPM1E 22843 broad.mit.edu 37 17 57057409 57057409 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:57057409T>C ENST00000308249.2 + 7 1414 c.1285T>C c.(1285-1287)Tac>Cac p.Y429H NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 438 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GACCGAAGACTACCTCATTCT 0.512000 10 25 0 0 0.001855 0 0 UNC80 285175 broad.mit.edu 37 2 210650818 210650818 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:210650818G>T ENST00000439458.1 + 5 709 c.629G>T c.(628-630)aGt>aTt p.S210I UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.S210I NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 210 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 CGTCTGGCCAGTGGGCTTGTT 0.502000 23 76 3.5997e-14 5.34204e-14 0.002299 1 0 BMPR1A 657 broad.mit.edu 37 10 88651967 88651967 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:88651967G>T ENST00000372037.2 + 5 851 c.314G>T c.(313-315)gGa>gTa p.G105V NM_004329.2 NP_004320.2 P36894 BMR1A_HUMAN bone morphogenetic protein receptor, type IA 105 BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway integral to membrane|plasma membrane ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1) 24 AAATATGAAGGATCTGATTTT 0.408000 """Mis, N, F""" gastrointestinal polyps Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2 10 15 9.70103e-10 1.26325e-09 0.008291 1 0 C19orf12 83636 broad.mit.edu 37 19 30199321 30199321 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:30199321C>A ENST00000392278.2 - 2 159 c.33G>T c.(31-33)acG>acT p.T11T C19orf12_ENST00000592153.1_5'UTR|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000323670.9_5'UTR|C19orf12_ENST00000392276.1_Intron NM_001031726.3 NP_001026896.2 Q9NSK7 CS012_HUMAN chromosome 19 open reading frame 12 0 integral to membrane Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183) TGATAGTCATCGTGGCGGGCC 0.517000 30 44 2.20474e-14 3.29921e-14 0.003755 1 0 ARHGAP5 394 broad.mit.edu 37 14 32560934 32560934 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:32560934A>G ENST00000345122.3 + 2 1374 c.1059A>G c.(1057-1059)ctA>ctG p.L353L ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000556611.1_Silent_p.L353L|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Silent_p.L353L|ARHGAP5_ENST00000539826.2_Silent_p.L353L NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 353 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TGCCAAATCTAGAAGAGATTG 0.328000 40 28 0 0 0.007835 0 0 CEP350 9857 broad.mit.edu 37 1 180062310 180062310 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:180062310A>G ENST00000367607.3 + 34 7488 c.7070A>G c.(7069-7071)aAg>aGg p.K2357R CEP350_ENST00000490141.1_3'UTR NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 2357 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 AAGAACACAAAGGAAAAAGAT 0.343000 12 7 0 0 0.010729 0 0 MTRR 4552 broad.mit.edu 37 5 7892928 7892928 + Missense_Mutation SNP G G A rs137853061 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:7892928G>A ENST00000264668.2 + 11 1570 c.1540G>A c.(1540-1542)Gga>Aga p.G514R MTRR_ENST00000440940.2_Missense_Mutation_p.G487R NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 514 FAD-binding FR-type. G -> R (in cblE). methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) TCTGCGGAAGGGAGTATGTAC 0.478000 111 45 0 0 0.003610 0 0 HMG20A 10363 broad.mit.edu 37 15 77771520 77771520 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:77771520G>T ENST00000381714.3 + 10 1335 c.e10-1 HMG20A_ENST00000336216.4_Splice_Site NM_018200.2 NP_060670.1 Q9NP66 HM20A_HUMAN high mobility group 20A chromatin modification nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 TCTCACTTCAGGAAGTGGAGA 0.378000 8 45 4.68919e-08 5.85099e-08 0.008291 1 0 ZNF688 146542 broad.mit.edu 37 16 30582916 30582916 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:30582916C>A ENST00000223459.6 - 1 1139 c.35G>T c.(34-36)aGg>aTg p.R12M ZNF688_ENST00000395219.1_Intron|ZNF688_ENST00000567855.1_Missense_Mutation_p.R12M|ZNF688_ENST00000563707.1_Missense_Mutation_p.R12M NM_145271.3 NP_660314.1 P0C7X2 ZN688_HUMAN zinc finger protein 688 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 CTCCCCGGGCCTCGGCGCCAG 0.776000 3 1 6.4e-05 7.11016e-05 0.004672 1 0 DSE 29940 broad.mit.edu 37 6 116752286 116752286 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:116752286C>T ENST00000331677.3 + 5 1284 c.840C>T c.(838-840)ttC>ttT p.F280F DSE_ENST00000452085.3_Silent_p.F280F|DSE_ENST00000359564.2_Silent_p.F280F|DSE_ENST00000537543.1_Silent_p.F299F Q9UL01 DSE_HUMAN dermatan sulfate epimerase 280 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) AGAGGCACTTCAACATCAACC 0.468000 11 22 0 0 0.008291 0 0 NPAP1 23742 broad.mit.edu 37 15 24921201 24921201 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:24921201A>T ENST00000329468.2 + 1 661 c.187A>T c.(187-189)Agc>Tgc p.S63C NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTCAGCAGCCAGCATCTTCGT 0.731000 14 46 0 0 0.002450 0 0 CD200R1L 344807 broad.mit.edu 37 3 112564525 112564525 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:112564525C>A ENST00000488794.1 - 2 504 c.e2+1 CD200R1L_ENST00000398214.1_Splice_Site|CD200R1L_ENST00000448932.1_Splice_Site Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 ATCAGACTTACCAGACACCAT 0.338000 40 43 1.76056e-25 3.16749e-25 0.011902 1 0 TTF1 7270 broad.mit.edu 37 9 135277662 135277662 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:135277662C>A ENST00000334270.2 - 2 586 c.547G>T c.(547-549)Gca>Tca p.A183S NM_001205296.1|NM_007344.3 NP_001192225.1|NP_031370.2 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase I 183 N-terminal region (NRD) (By similarity). negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) GTGTCCCTTGCCCGCTGGCTC 0.498000 24 9 5.35356e-11 7.21091e-11 0.002780 1 0 PCDHB15 56121 broad.mit.edu 37 5 140627302 140627302 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:140627302C>A ENST00000231173.3 + 1 2156 c.2156C>A c.(2155-2157)gCg>gAg p.A719E NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 719 A -> V (in a breast cancer sample; somatic mutation). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.A719V(1) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGAGCAGGGCGGCCTCAGTG 0.647000 120 49 4.9928e-70 1.00015e-69 0.003610 1 0 RBM8A 9939 broad.mit.edu 37 1 145507688 145507688 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:145507688C>T ENST00000330165.7 + 1 91 c.22C>T c.(22-24)Cac>Tac p.H8Y RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000596355.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RBM8A_ENST00000369307.3_Missense_Mutation_p.H8Y|RP11-315I20.1_ENST00000447686.2_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA NM_005105.3 NP_005096.1 Q9Y5S9 RBM8A_HUMAN RNA binding motif protein 8A 8 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck mRNA binding|nucleotide binding|protein binding kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTAGATCTTCACGAGGCTGG 0.602000 OREG0013748 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 4 0 0 0.003080 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220680 118220680 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:118220680A>T ENST00000402510.2 - 11 4512 c.4513T>A c.(4513-4515)Tcg>Acg p.S1505T NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1505 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 ATTGGGCCCGAGGGCACTGAA 0.488000 15 7 0 0 0.003163 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433718 73433718 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:73433718G>T ENST00000263666.4 - 10 2113 c.1999C>A c.(1999-2001)Cct>Act p.P667T PDZRN3_ENST00000479530.1_Missense_Mutation_p.P384T|PDZRN3_ENST00000462146.2_Missense_Mutation_p.P324T|PDZRN3_ENST00000535920.1_Missense_Mutation_p.P389T|PDZRN3_ENST00000466780.1_Missense_Mutation_p.P324T NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 667 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) GGGCCGCTAGGGTAGTACAGG 0.652000 21 93 4.35082e-09 5.58436e-09 0.010504 1 0 RAD51AP1 10635 broad.mit.edu 37 12 4657954 4657954 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:4657954G>T ENST00000228843.9 + 7 609 c.559G>T c.(559-561)Ggc>Tgc p.G187C RAD51AP1_ENST00000543041.1_Missense_Mutation_p.G52C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.G170C|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.G187C|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.G170C NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 187 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TCTTCTGGAAGGCAGTGATGG 0.403000 58 8 3.84483e-29 7.06953e-29 0.003610 1 0 FLG 2312 broad.mit.edu 37 1 152280877 152280877 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:152280877C>G ENST00000368799.1 - 3 6520 c.6485G>C c.(6484-6486)gGa>gCa p.G2162A FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2162 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGAGTGTCCAGACCTATC 0.567000 Ichthyosis 244 375 0 0 0.003610 0 0 COPA 1314 broad.mit.edu 37 1 160281721 160281721 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:160281721T>C ENST00000241704.7 - 11 1242 c.1013A>G c.(1012-1014)gAc>gGc p.D338G COPA_ENST00000368069.3_Missense_Mutation_p.D338G NM_001098398.1|NM_004371.3 NP_001091868.1|NP_004362.2 P53621 COPA_HUMAN coatomer protein complex, subunit alpha 338 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 46 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TAAGAATCGGTCCTTGACATA 0.493000 6 31 0 0 0.003080 0 0 LAMB4 22798 broad.mit.edu 37 7 107704224 107704224 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:107704224G>T ENST00000388781.3 - 22 3126 c.3043C>A c.(3043-3045)Ctc>Atc p.L1015I LAMB4_ENST00000388780.3_Missense_Mutation_p.L1015I|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1015I NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1015 Laminin EGF-like 10. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GTCTGATTGAGGGCTGATCCA 0.522000 34 143 1.47197e-15 2.26763e-15 0.007835 1 0 FCHSD2 9873 broad.mit.edu 37 11 72598594 72598594 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:72598594C>A ENST00000409314.1 - 13 1307 c.1139G>T c.(1138-1140)gGa>gTa p.G380V FCHSD2_ENST00000409418.4_Missense_Mutation_p.G356V|FCHSD2_ENST00000458644.2_Missense_Mutation_p.G220V|FCHSD2_ENST00000311172.7_Missense_Mutation_p.G300V|FCHSD2_ENST00000409853.1_Missense_Mutation_p.G300V O94868 FCSD2_HUMAN FCH and double SH3 domains 2 356 protein binding endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1) 22 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) TACAGCAGCTCCATGACACTC 0.358000 32 62 1.74807e-11 2.38269e-11 0.010818 1 0 RPL31P11 641311 broad.mit.edu 37 1 161654836 161654836 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:161654836C>A ENST00000426558.1 - 0 206 NR_002595.1 TTCCCATCTCCTTCATGCCAA 0.512000 11 8 1.61879e-10 2.14811e-10 0.001368 1 0 ZNF423 23090 broad.mit.edu 37 16 49671819 49671819 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:49671819G>T ENST00000561648.1 - 4 1297 c.1244C>A c.(1243-1245)tCc>tAc p.S415Y ZNF423_ENST00000562871.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000562520.1_Missense_Mutation_p.S355Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.S415Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.S298Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.S355Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.S298Y NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 415 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GTCCCGCTTGGAACAATAGGG 0.612000 19 33 5.03518e-11 6.78938e-11 0.007413 1 0 IGHV4-31 28396 broad.mit.edu 37 14 106805611 106805611 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:106805611C>A ENST00000438142.2 - 0 105 CTGGGAGCTGCCACCAGCAGG 0.532000 22 49 3.99451e-17 6.37292e-17 0.009535 1 0 TMEM132B 114795 broad.mit.edu 37 12 126135290 126135290 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:126135290C>T ENST00000299308.3 + 7 1698 c.1690C>T c.(1690-1692)Cag>Tag p.Q564* TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.Q76* NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 564 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGCTCCCTGCAGTACCAGCA 0.572000 21 54 0 0 0.002299 0 0 TRPM1 4308 broad.mit.edu 37 15 31353687 31353687 + Nonsense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:31353687G>A ENST00000542188.1 - 9 1484 c.1171C>T c.(1171-1173)Cag>Tag p.Q391* TRPM1_ENST00000397795.2_Nonsense_Mutation_p.Q352*|TRPM1_ENST00000256552.6_Nonsense_Mutation_p.Q374* NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 352 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) ATGTCCTGCTGGCCCTCAGAA 0.468000 4 32 0 0 0.009096 0 0 OR6N2 81442 broad.mit.edu 37 1 158747146 158747146 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:158747146A>T ENST00000339258.1 - 1 279 c.280T>A c.(280-282)Ttt>Att p.F94I NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) CATCCTGCAAAAGAAATGGTT 0.443000 32 78 0 0 0.008361 0 0 FBXL7 23194 broad.mit.edu 37 5 15936989 15936989 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:15936989G>T ENST00000504595.1 + 4 1651 c.1170G>T c.(1168-1170)acG>acT p.T390T FBXL7_ENST00000510662.1_Silent_p.T343T|FBXL7_ENST00000329673.7_Silent_p.T378T NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 390 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 AGGGCATCACGGACCACGGTG 0.627000 24 29 3.83957e-06 4.51248e-06 0.002780 1 0 CCDC63 160762 broad.mit.edu 37 12 111319093 111319093 + Missense_Mutation SNP G G C rs143591206 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:111319093G>C ENST00000308208.5 + 7 1088 c.846G>C c.(844-846)agG>agC p.R282S CCDC63_ENST00000552694.1_Missense_Mutation_p.R203S|CCDC63_ENST00000545036.1_Missense_Mutation_p.R242S NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 282 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGGCCAAAAGGGAGGAAGGTA 0.507000 13 22 0 0 0.001855 0 0 FAM98A 25940 broad.mit.edu 37 2 33810093 33810093 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:33810093C>G ENST00000238823.8 - 8 1447 c.1307G>C c.(1306-1308)gGa>gCa p.G436A FAM98A_ENST00000441530.2_Missense_Mutation_p.G241A|FAM98A_ENST00000403368.1_3'UTR Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 437 Gly-rich. NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) ACCCTGGTATCCACTTCCTGT 0.567000 54 51 0 0 0.003610 0 0 CKAP4 10970 broad.mit.edu 37 12 106633389 106633389 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:106633389C>A ENST00000378026.4 - 2 1358 c.1222G>T c.(1222-1224)Gga>Tga p.G408* NM_006825.3 NP_006816.2 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 408 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 GAGTCCAGTCCCTGACTCTTT 0.627000 46 49 8.72198e-27 1.58054e-26 0.003610 1 0 OR4L1 122742 broad.mit.edu 37 14 20529046 20529046 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:20529046A>T ENST00000315683.1 + 1 843 c.843A>T c.(841-843)ttA>ttT p.L281F NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TCACACCCTTACTGAATCCGA 0.353000 9 20 0 0 0.001368 0 0 ING1 3621 broad.mit.edu 37 13 111367799 111367799 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:111367799C>T ENST00000375774.3 + 1 471 c.9C>T c.(7-9)ttC>ttT p.F3F ING1_ENST00000333219.7_Intron|ING1_ENST00000464141.1_3'UTR|ING1_ENST00000338450.7_Intron|ING1_ENST00000375775.3_Intron NM_005537.4 NP_005528.3 Q9UK53 ING1_HUMAN inhibitor of growth family, member 1 3 cell cycle|negative regulation of cell growth|negative regulation of cell proliferation nucleus zinc ion binding endometrium(4)|large_intestine(6)|lung(1)|ovary(1) 12 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.188) TGATGTCCTTCGTGGAATGTC 0.527000 28 31 0 0 0.006320 0 0 NF1 4763 broad.mit.edu 37 17 29548883 29548883 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:29548883C>T ENST00000358273.4 + 15 2040 c.1657C>T c.(1657-1659)Cat>Tat p.H553Y NF1_ENST00000356175.3_Missense_Mutation_p.H553Y|NF1_ENST00000431387.4_Missense_Mutation_p.H553Y NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 553 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) GCTGGTTCTTCATCAGTTAGA 0.303000 """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) 18 5 0 0 0.010504 0 0 LMX1A 4009 broad.mit.edu 37 1 165175220 165175220 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:165175220T>A ENST00000342310.3 - 8 1251 c.869A>T c.(868-870)tAc>tTc p.Y290F LMX1A_ENST00000294816.2_Missense_Mutation_p.Y290F|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.Y290F NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 290 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGAGCCGTGTAGGGGTTCAT 0.582000 36 37 0 0 0.006999 0 0 LRP2 4036 broad.mit.edu 37 2 169997053 169997053 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:169997053T>C ENST00000263816.3 - 72 13396 c.13111A>G c.(13111-13113)Atc>Gtc p.I4371V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4371 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GGCAGTTCGATGGCTGCAGGA 0.552000 10 34 0 0 0.006214 0 0 FAM171B 165215 broad.mit.edu 37 2 187605149 187605149 + Missense_Mutation SNP G G C rs139449443 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:187605149G>C ENST00000304698.5 + 2 636 c.433G>C c.(433-435)Gtg>Ctg p.V145L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 145 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AGATGGCTACGTGTTGACCCC 0.343000 5 12 0 0 0.000602 0 0 NUDT22 84304 broad.mit.edu 37 11 63995073 63995073 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:63995073G>C ENST00000279206.3 + 3 670 c.514G>C c.(514-516)Gac>Cac p.D172H NUDT22_ENST00000441250.2_Intron NM_001128612.2|NM_032344.2 NP_001122084.1|NP_115720.1 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 22 172 Nudix hydrolase. hydrolase activity breast(1)|endometrium(1)|large_intestine(2)|lung(4) 8 CCAGCACCAGGACCTCGCTGG 0.612000 10 70 0 0 0.001368 0 0 BTBD3 22903 broad.mit.edu 37 20 11903919 11903919 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:11903919G>C ENST00000405977.1 + 5 1799 c.1174G>C c.(1174-1176)Ggt>Cgt p.G392R BTBD3_ENST00000378226.2_Missense_Mutation_p.G392R|BTBD3_ENST00000254977.3_Missense_Mutation_p.G331R|BTBD3_ENST00000399006.2_Missense_Mutation_p.G331R Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 392 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GCGCTATCGTGGTCGCTGTGA 0.522000 21 41 0 0 0.008871 0 0 GPR26 2849 broad.mit.edu 37 10 125426162 125426162 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:125426162G>C ENST00000284674.1 + 1 292 c.239G>C c.(238-240)cGc>cCc p.R80P NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 80 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) CGCCTGTGCCGCCTGGCTGCC 0.701000 7 1 0 0 0.001984 0 0 OR6N1 128372 broad.mit.edu 37 1 158735734 158735734 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:158735734C>G ENST00000335094.2 - 1 758 c.739G>C c.(739-741)Gtg>Ctg p.V247L NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 247 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) ATGAGAACCACAGTGAAGTGG 0.532000 62 52 0 0 0.003610 0 0 COL6A3 1293 broad.mit.edu 37 2 238253296 238253296 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:238253296G>T ENST00000295550.4 - 36 7817 c.7365C>A c.(7363-7365)acC>acA p.T2455T COL6A3_ENST00000472056.1_Silent_p.T1848T|COL6A3_ENST00000353578.4_Silent_p.T2249T|COL6A3_ENST00000346358.4_Silent_p.T2255T|COL6A3_ENST00000347401.3_Silent_p.T2254T|COL6A3_ENST00000409809.1_Silent_p.T2249T NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2455 Nonhelical region.|VWFA 11. 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) GGATCTCCGTGGTCACCTCGT 0.547000 26 66 3.28513e-13 4.68663e-13 0.003954 1 0 PADI3 51702 broad.mit.edu 37 1 17603297 17603297 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:17603297G>T ENST00000375460.3 + 13 1521 c.1481G>T c.(1480-1482)gGg>gTg p.G494V NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 494 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) GCCAGCCCTGGGGCCTGCTTC 0.627000 3 16 0.00909568 0.0094577 0.009096 1 0 NRCAM 4897 broad.mit.edu 37 7 107818536 107818536 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:107818536A>C ENST00000379028.3 - 26 3343 c.2873T>G c.(2872-2874)tTg>tGg p.L958W NRCAM_ENST00000425651.2_Missense_Mutation_p.L958W|NRCAM_ENST00000351718.4_Missense_Mutation_p.L942W|NRCAM_ENST00000413765.2_Missense_Mutation_p.L939W|NRCAM_ENST00000379022.4_Missense_Mutation_p.L958W|NRCAM_ENST00000379024.4_Missense_Mutation_p.L939W Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 958 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CACAATCTTCAAAGACGAGGG 0.438000 28 7 0 0 0.006320 0 0 SPP1 6696 broad.mit.edu 37 4 88898093 88898093 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:88898093G>T ENST00000237623.7 + 2 194 c.46G>T c.(46-48)Gcc>Tcc p.A16S SPP1_ENST00000360804.4_Missense_Mutation_p.A16S|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Missense_Mutation_p.A16S NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 16 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CATCACCTGTGCCATACCAGT 0.388000 8 8 0.00307968 0.00324804 0.003080 1 0 CHML 1122 broad.mit.edu 37 1 241797805 241797805 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:241797805T>C ENST00000366553.1 - 1 1427 c.1264A>G c.(1264-1266)Ata>Gta p.I422V OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 422 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) AAGTGATCTATAATTGCTTTA 0.353000 33 8 0 0 0.009535 0 0 CR2 1380 broad.mit.edu 37 1 207651379 207651379 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:207651379C>A ENST00000367057.3 + 16 3241 c.3052C>A c.(3052-3054)Cac>Aac p.H1018N CR2_ENST00000367058.3_Missense_Mutation_p.H959N|CR2_ENST00000458541.2_Missense_Mutation_p.H932N|CR2_ENST00000367059.3_Missense_Mutation_p.H897N NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 959 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 CCAATCGGATCACCAATGGAA 0.522000 6 6 0.00116845 0.00123857 0.001168 1 0 PABPC5 140886 broad.mit.edu 37 X 90690916 90690916 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:90690916G>T ENST00000312600.3 + 2 554 c.340G>T c.(340-342)Gac>Tac p.D114Y PABPC5_ENST00000373105.1_Intron NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 114 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 CAAAAACCTGGACAAATCCAT 0.408000 22 36 2.37509e-13 3.41948e-13 0.010504 1 0 ADAMTS5 11096 broad.mit.edu 37 21 28307054 28307054 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:28307054C>A ENST00000284987.5 - 4 1541 c.1420G>T c.(1420-1422)Gac>Tac p.D474Y AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 474 Peptidase M12B. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CGTGGTAGGTCCAGCAAACAG 0.507000 27 7 8.58068e-18 1.392e-17 0.007291 1 0 NPHS1 4868 broad.mit.edu 37 19 36322587 36322587 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:36322587C>A ENST00000378910.5 - 24 3243 c.3244G>T c.(3244-3246)Ggg>Tgg p.G1082W NPHS1_ENST00000353632.6_Intron NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 1082 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGACCCCCCCGACACAGGAG 0.652000 7 10 0.000157383 0.000171915 0.003080 1 0 MYO18B 84700 broad.mit.edu 37 22 26423063 26423063 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:26423063C>A ENST00000335473.7 + 43 7373 c.7123C>A c.(7123-7125)Ctg>Atg p.L2375M MYO18B_ENST00000407587.2_Missense_Mutation_p.L2376M|MYO18B_ENST00000536101.1_Missense_Mutation_p.L2375M NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2375 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGGGACATGCTGTTGTCGCC 0.567000 61 21 3.79397e-19 6.28486e-19 0.003610 1 0 DDN 23109 broad.mit.edu 37 12 49390743 49390743 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:49390743C>A ENST00000421952.2 - 2 1937 c.1916G>T c.(1915-1917)gGc>gTc p.G639V NM_015086.1 NP_055901.2 O94850 DEND_HUMAN dendrin 639 Interaction with CD2AP and NPHS1 (By similarity). dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 8 ATCAGAGGAGCCGCTATGGAC 0.657000 OREG0021778 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 6 0.000157383 0.000171915 0.003080 1 0 VAMP4 8674 broad.mit.edu 37 1 171679938 171679938 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:171679938C>A ENST00000236192.7 - 5 567 c.181G>T c.(181-183)Gat>Tat p.D61Y VAMP4_ENST00000367740.2_Missense_Mutation_p.D60Y|VAMP4_ENST00000415773.1_Missense_Mutation_p.D60Y|VAMP4_ENST00000482519.1_5'UTR NM_001185127.1|NM_003762.4 NP_001172056.1|NP_003753.2 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 61 v-SNARE coiled-coil homology. vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) ATAACTTCATCCACTTGATTC 0.303000 16 56 2.31682e-05 2.62211e-05 0.003163 1 0 MUC16 94025 broad.mit.edu 37 19 9088131 9088131 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:9088131T>A ENST00000397910.4 - 1 3887 c.3684A>T c.(3682-3684)tcA>tcT p.S1228S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1228 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 ATGCCTCCAATGATGTGGCTG 0.512000 151 62 0 0 0.003610 0 0 KCNB2 9312 broad.mit.edu 37 8 73849053 73849053 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:73849053C>T ENST00000523207.1 + 3 2051 c.1463C>T c.(1462-1464)tCg>tTg p.S488L NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 488 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) AATCACCTGTCGCCAAGCCGG 0.527000 20 236 0 0 0.012319 0 0 STRA8 346673 broad.mit.edu 37 7 134939889 134939889 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:134939889C>A ENST00000275764.3 + 8 830 c.830C>A c.(829-831)cCa>cAa p.P277Q NM_182489.1 NP_872295.1 Q7Z7C7 STRA8_HUMAN stimulated by retinoic acid 8 277 DNA replication|regulation of transcription, DNA-dependent cytoplasm|nucleus breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1) 16 AGCTGCAACCCAGAAAACCCA 0.443000 49 58 1.32667e-27 2.42868e-27 0.003610 1 0 ERCC5 2073 broad.mit.edu 37 13 103514550 103514550 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:103514550G>T ENST00000355739.4 + 8 2474 c.1051G>T c.(1051-1053)Gcc>Tcc p.A351S BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.C776F NM_000123.3 NP_000114.2 excision repair cross-complementing rodent repair deficiency, complementation group 5 breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 51 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) TATGCAAGCTGCCCTGCTGGG 0.512000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 24 41 9.95505e-16 1.54309e-15 0.002299 1 0 FNDC1 84624 broad.mit.edu 37 6 159653822 159653822 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:159653822C>T ENST00000297267.9 + 11 2478 c.2278C>T c.(2278-2280)Cgg>Tgg p.R760W FNDC1_ENST00000340366.6_Missense_Mutation_p.R697W NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 760 Ser-rich. extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TGCGCCATCACGGTCCACCAT 0.622000 18 20 0 0 0.008871 0 0 TBC1D4 9882 broad.mit.edu 37 13 75884154 75884154 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:75884154C>G ENST00000377636.3 - 14 2863 c.2517G>C c.(2515-2517)ctG>ctC p.L839L TBC1D4_ENST00000425511.1_Silent_p.L56L|TBC1D4_ENST00000431480.2_Silent_p.L831L|TBC1D4_ENST00000377625.2_Silent_p.L776L NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 839 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) ACAAGCTCCTCAGTTCTTTTG 0.418000 11 30 0 0 0.008291 0 0 BRWD3 254065 broad.mit.edu 37 X 79960239 79960239 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:79960239C>A ENST00000373275.4 - 23 2875 c.2659G>T c.(2659-2661)Gat>Tat p.D887Y BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 887 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TTTTCCTCATCAGAGCTGCTG 0.348000 23 6 1.55795e-14 2.33692e-14 0.012319 1 0 SCCPDH 51097 broad.mit.edu 37 1 246890200 246890200 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:246890200C>A ENST00000366510.3 + 2 573 c.197C>A c.(196-198)cCa>cAa p.P66Q NM_016002.2 NP_057086.2 Q8NBX0 SCPDH_HUMAN saccharopine dehydrogenase (putative) 66 midbody binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1) 17 all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618) all_cancers(173;0.0343) OV - Ovarian serous cystadenocarcinoma(106;0.00323) GBM - Glioblastoma multiforme(49;0.0896) TTAGGAAGACCAACACTGTCA 0.368000 5 21 0.000602214 0.000644899 0.000602 1 0 ENPEP 2028 broad.mit.edu 37 4 111464189 111464189 + Missense_Mutation SNP C C A rs139405480 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:111464189C>A ENST00000265162.5 + 13 2305 c.1963C>A c.(1963-1965)Cgt>Agt p.R655S NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 655 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) TTCAGCAGATCGTGCAAGTCT 0.333000 27 11 8.53417e-09 1.08648e-08 0.002836 1 0 HDX 139324 broad.mit.edu 37 X 83730299 83730299 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:83730299T>A ENST00000297977.5 - 2 218 c.107A>T c.(106-108)cAg>cTg p.Q36L HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Missense_Mutation_p.Q36L NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 36 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CTGTGCACACTGTAATATGAG 0.338000 17 30 0 0 0.007413 0 0 PSD4 23550 broad.mit.edu 37 2 113950125 113950125 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:113950125G>T ENST00000245796.6 + 6 1992 c.1797G>T c.(1795-1797)gaG>gaT p.E599D PSD4_ENST00000441564.2_Missense_Mutation_p.E571D NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 599 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATCGCCTGGAGGGCTTCCGGA 0.597000 21 20 4.63292e-17 7.36335e-17 0.008871 1 0 CPB2 1361 broad.mit.edu 37 13 46648091 46648091 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:46648091C>A ENST00000181383.4 - 6 524 c.508G>T c.(508-510)Gcc>Tcc p.A170S CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.A170S NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 170 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) GCATTTTTGGCTGCTTGTTCT 0.383000 12 5 6.40141e-05 7.11016e-05 0.010729 1 0 RNF165 494470 broad.mit.edu 37 18 44030685 44030685 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:44030685G>T ENST00000269439.7 + 6 790 c.739G>T c.(739-741)Gac>Tac p.D247Y RNF165_ENST00000543885.1_Missense_Mutation_p.D55Y NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 247 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) GCAGCTCGAGGACAGGTTGGG 0.522000 23 31 4.59853e-10 6.05095e-10 0.005443 1 0 SP140 11262 broad.mit.edu 37 2 231106193 231106193 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:231106193G>T ENST00000392045.3 + 4 595 c.481G>T c.(481-483)Ggt>Tgt p.G161C SP140_ENST00000343805.6_Missense_Mutation_p.G161C|SP140_ENST00000350136.5_Missense_Mutation_p.G141C|SP140_ENST00000420434.3_Missense_Mutation_p.G161C|SP140_ENST00000417495.3_Missense_Mutation_p.G161C|SP140_ENST00000486687.2_Missense_Mutation_p.G161C NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 161 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) ACTACCATATGGTAAACAAGG 0.363000 11 11 0.000978159 0.00104215 0.010729 1 0 EIF2B2 8892 broad.mit.edu 37 14 75469831 75469831 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:75469831C>T ENST00000266126.5 + 1 218 c.138C>T c.(136-138)atC>atT p.I46I NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 46 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) GCCAGATCATCACGGACCACC 0.667000 8 33 0 0 0.003080 0 0 GANAB 23193 broad.mit.edu 37 11 62400735 62400735 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:62400735C>A ENST00000346178.4 - 8 720 c.705G>T c.(703-705)gaG>gaT p.E235D GANAB_ENST00000534779.1_Missense_Mutation_p.E121D|GANAB_ENST00000540933.1_Missense_Mutation_p.E116D|GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000356638.3_Missense_Mutation_p.E213D NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 213 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 TCCCCTGAGTCTCCTCTGGCT 0.527000 66 68 9.65139e-37 1.84214e-36 0.003610 1 0 GPR158 57512 broad.mit.edu 37 10 25839917 25839917 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:25839917T>C ENST00000376351.3 + 6 1776 c.1417T>C c.(1417-1419)Tac>Cac p.Y473H NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 473 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 TGTTATTTTGTACTTTGAGCC 0.423000 11 44 0 0 0.010729 0 0 PDLIM7 9260 broad.mit.edu 37 5 176923490 176923490 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:176923490C>T ENST00000355841.2 - 2 90 c.24G>A c.(22-24)ctG>ctA p.L8L PDLIM7_ENST00000356618.4_Silent_p.L8L|PDLIM7_ENST00000355572.2_Silent_p.L8L|PDLIM7_ENST00000359895.2_Silent_p.L8L|PDLIM7_ENST00000393551.1_Silent_p.L8L|RP11-1334A24.6_ENST00000506025.1_RNA NM_005451.3 NP_005442.2 Q9NR12 PDLI7_HUMAN PDZ and LIM domain 7 (enigma) 8 PDZ. cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis cytoplasm|focal adhesion protein binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 10 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTGGCCCCTCCAGCACTACTT 0.642000 5 5 0 0 0.000602 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751263 162751263 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:162751263G>T ENST00000375514.5 + 11 1499 c.1212G>T c.(1210-1212)caG>caT p.Q404H SLC4A10_ENST00000272716.5_Missense_Mutation_p.Q393H|SLC4A10_ENST00000421911.1_Missense_Mutation_p.Q423H|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.Q423H|SLC4A10_ENST00000415876.2_Missense_Mutation_p.Q393H|SLC4A10_ENST00000535165.1_Missense_Mutation_p.R394M NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 423 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTCTGGATCAGGTTACTGTTC 0.363000 25 44 1.64293e-13 2.38178e-13 0.003330 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121653039 121653039 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:121653039T>A ENST00000393386.2 + 12 4350 c.3939T>A c.(3937-3939)gcT>gcA p.A1313A PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1313 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 ATGTATTTGCTACACCTGTTT 0.373000 18 13 0 0 0.007413 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617822 54617822 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:54617822C>T ENST00000302287.3 + 4 999 c.593C>T c.(592-594)cCt>cTt p.P198L VSTM2A_ENST00000402026.2_Missense_Mutation_p.P197L|VSTM2A_ENST00000407838.3_Missense_Mutation_p.P198L|VSTM2A_ENST00000402613.3_Missense_Mutation_p.P198L|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000404951.1_Missense_Mutation_p.P198L Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 198 extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) ACCTCCAGCCCTCAAGTGGTA 0.522000 13 10 0 0 0.002450 0 0 MYPN 84665 broad.mit.edu 37 10 69881364 69881364 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:69881364C>T ENST00000358913.5 + 2 657 c.169C>T c.(169-171)Caa>Taa p.Q57* MYPN_ENST00000540630.1_Nonsense_Mutation_p.Q57*|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Nonsense_Mutation_p.Q57* NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 57 Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AGGCGGAGGCCAAGATGACCT 0.527000 20 44 0 0 0.010504 0 0 MYH2 4620 broad.mit.edu 37 17 10428089 10428089 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:10428089G>C ENST00000245503.5 - 34 5340 c.4956C>G c.(4954-4956)acC>acG p.T1652T MYH2_ENST00000397183.2_Silent_p.T1652T|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1652 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 GGATGCCTTGGGTGTTCCTGT 0.502000 50 54 0 0 0.003610 0 0 GRID2 2895 broad.mit.edu 37 4 94436514 94436514 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:94436514C>A ENST00000282020.4 + 13 2403 c.2145C>A c.(2143-2145)agC>agA p.S715R GRID2_ENST00000510992.1_Missense_Mutation_p.S620R NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 715 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) TCAACCGAAGCAATGGATCGG 0.468000 5 22 3.59834e-05 4.06515e-05 0.001168 1 0 FAM71C 196472 broad.mit.edu 37 12 100042044 100042044 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:100042044A>C ENST00000324341.1 + 1 514 c.92A>C c.(91-93)cAa>cCa p.Q31P ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron NM_153364.3 NP_699195.1 Q8NEG0 FA71C_HUMAN family with sequence similarity 71, member C 31 breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) CTGCAGCGGCAACTGTACAAA 0.493000 44 57 0 0 0.010771 0 0 UQCRC2 7385 broad.mit.edu 37 16 21968823 21968823 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:21968823G>T ENST00000268379.4 + 3 967 c.203G>T c.(202-204)gGc>gTc p.G68V UQCRC2_ENST00000561553.1_Missense_Mutation_p.G68V NM_003366.2 NP_003357.2 P22695 QCR2_HUMAN ubiquinol-cytochrome c reductase core protein II 68 aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(48;0.0264) ATTAAAGCAGGCAGTAGATAT 0.383000 28 66 1.7367e-05 1.97804e-05 0.006320 1 0 PHLPP1 23239 broad.mit.edu 37 18 60612425 60612425 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:60612425G>A ENST00000400316.4 + 12 3490 c.1709G>A c.(1708-1710)tGc>tAc p.C570Y PHLPP1_ENST00000262719.5_Missense_Mutation_p.C1082Y NM_194449.3 NP_919431.2 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein phosphatase 1 1082 PH. apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity endometrium(2)|kidney(2)|lung(13) 17 ATCATGAATTGCAGGCGCATG 0.428000 39 14 0 0 0.004289 0 0 MYEF2 50804 broad.mit.edu 37 15 48444431 48444431 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:48444431C>A ENST00000324324.7 - 11 1417 c.1138_splice c.e11+1 p.G380_splice MYEF2_ENST00000267836.6_Splice_Site_p.G380_splice NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 380 Gly-rich. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) TTATACATACCTCCTCCAATT 0.299000 42 43 7.88023e-25 1.40767e-24 0.003610 1 0 LRRTM3 347731 broad.mit.edu 37 10 68686953 68686953 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:68686953C>A ENST00000361320.4 + 2 857 c.279C>A c.(277-279)gaC>gaA p.D93E CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron NM_178011.3 NP_821079.3 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 93 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 TATACCTTGACCATAACCATA 0.378000 39 37 5.71845e-15 8.69204e-15 0.005524 1 0 OR5D18 219438 broad.mit.edu 37 11 55587400 55587400 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:55587400G>T ENST00000333976.4 + 1 315 c.295G>T c.(295-297)Gta>Tta p.V99L NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TTTAGGATGCGTAGTACAATT 0.428000 37 119 1.30998e-17 2.11964e-17 0.005524 1 0 DENND5B 160518 broad.mit.edu 37 12 31577523 31577523 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:31577523G>T ENST00000389082.5 - 10 2601 c.2337C>A c.(2335-2337)gcC>gcA p.A779A DENND5B_ENST00000536562.1_Silent_p.A814A|DENND5B_ENST00000306833.6_Silent_p.A814A NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 779 RUN 1. integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CACAAAGGCTGGCGATCAAGG 0.537000 84 23 7.2426e-40 1.40158e-39 0.003610 1 0 DUSP23 54935 broad.mit.edu 37 1 159752065 159752065 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:159752065C>A ENST00000368107.1 + 2 488 c.390C>A c.(388-390)ccC>ccA p.P130P DUSP23_ENST00000368108.3_Silent_p.P130P|DUSP23_ENST00000368109.1_Silent_p.P130P Q9BVJ7 DUS23_HUMAN dual specificity phosphatase 23 130 Tyrosine-protein phosphatase. cytosol|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity lung(1) 1 all_hematologic(112;0.0537) GACTACGACCCGGCTCCATCG 0.582000 18 47 6.94344e-10 9.06043e-10 0.006122 1 0 OR4N2 390429 broad.mit.edu 37 14 20296176 20296176 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:20296176C>A ENST00000315947.1 + 1 569 c.569C>A c.(568-570)aCc>aAc p.T190N OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 190 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGGCCTGCACCGACACATTT 0.522000 32 44 1.08312e-15 1.6727e-15 0.009535 1 0 ABI3 51225 broad.mit.edu 37 17 47295236 47295236 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:47295236C>A ENST00000225941.1 + 3 919 c.421C>A c.(421-423)Ctc>Atc p.L141I ABI3_ENST00000419580.2_Missense_Mutation_p.L135I NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 141 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) CAGGAGACCCCTCAACTTTGG 0.637000 HNSCC(55;0.14) 55 13 1.59911e-31 2.9885e-31 0.003610 1 0 NSD1 64324 broad.mit.edu 37 5 176696757 176696757 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:176696757G>A ENST00000439151.2 + 16 5503 c.5458G>A c.(5458-5460)Gtg>Atg p.V1820M NSD1_ENST00000361032.4_Missense_Mutation_p.V1717M|NSD1_ENST00000354179.4_Missense_Mutation_p.V1551M|NSD1_ENST00000347982.4_Missense_Mutation_p.V1551M NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 1820 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GGAGGGTGACGTGAGCAGCAA 0.453000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 18 64 0 0 0.007413 0 0 LRP1B 53353 broad.mit.edu 37 2 141625381 141625381 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:141625381G>T ENST00000389484.3 - 27 5328 c.4357C>A c.(4357-4359)Ctc>Atc p.L1453I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1453 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) CCATCATAGAGGGCTGAATAA 0.388000 TSP Lung(27;0.18) 19 35 1.01871e-10 1.3619e-10 0.008871 1 0 PELO 53918 broad.mit.edu 37 5 52096767 52096767 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:52096767G>T ENST00000274311.2 + 2 1524 c.539G>T c.(538-540)cGg>cTg p.R180L ITGA1_ENST00000504086.1_Intron|ITGA1_ENST00000282588.6_Intron|PELO_ENST00000506949.1_Intron NM_015946.4 NP_057030.3 Q9BRX2 PELO_HUMAN pelota homolog (Drosophila) 180 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1) 11 Lung NSC(810;4.94e-05)|Breast(144;0.0848) CAGCATGACCGGGCCTTGGAG 0.542000 51 53 2.6238e-40 5.08538e-40 0.003610 1 0 MYH6 4624 broad.mit.edu 37 14 23871692 23871692 + Silent SNP C C A rs148091079 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:23871692C>A ENST00000405093.3 - 12 1192 c.1122G>T c.(1120-1122)gcG>gcT p.A374A MYH6_ENST00000356287.3_Silent_p.A374A NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 374 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) CGTCTGGCTCCGCCTGCTCCT 0.617000 47 45 4.10826e-27 7.48802e-27 0.003610 1 0 KCNQ2 3785 broad.mit.edu 37 20 62076037 62076037 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:62076037C>A ENST00000354587.3 - 4 841 c.665G>T c.(664-666)gGc>gTc p.G222V KCNQ2_ENST00000359125.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.G222V|KCNQ2_ENST00000344462.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000370221.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.G222V|KCNQ2_ENST00000430658.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370226.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.G222V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.G222V|KCNQ2_ENST00000370222.3_Missense_Mutation_p.G222V O43526 KCNQ2_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 2 222 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) GACCACAGAGCCCAGCAGCTT 0.687000 9 6 1.12685e-05 1.29759e-05 0.004482 1 0 NUP210 23225 broad.mit.edu 37 3 13420447 13420447 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:13420447T>C ENST00000254508.5 - 8 1092 c.1010A>G c.(1009-1011)aAc>aGc p.N337S NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 337 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)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GATAGTGCTGTTGGGTAACCT 0.468000 46 22 0 0 0.003610 0 0 LIPC 3990 broad.mit.edu 37 15 58830623 58830623 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:58830623G>T ENST00000414170.3 + 3 467 c.180G>T c.(178-180)caG>caT p.Q60H LIPC_ENST00000433326.2_Missense_Mutation_p.Q60H|LIPC_ENST00000356113.6_Missense_Mutation_p.Q60H|LIPC_ENST00000299022.5_Missense_Mutation_p.Q60H P11150 LIPC_HUMAN lipase, hepatic 60 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) AAACCAATCAGGGCTGTCAGA 0.483000 33 114 5.60225e-13 7.9651e-13 0.009535 1 0 GRM7 2917 broad.mit.edu 37 3 7494431 7494431 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:7494431C>T ENST00000486284.1 + 6 1586 c.1312C>T c.(1312-1314)Cca>Tca p.P438S GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.P438S|GRM7_ENST00000389336.4_Missense_Mutation_p.P438S|GRM7_ENST00000403881.1_Missense_Mutation_p.P438S|GRM7_ENST00000357716.4_Missense_Mutation_p.P438S NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 438 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) GGGTGTCTGCCCAGAGATGGA 0.473000 16 7 0 0 0.007413 0 0 CLCA2 9635 broad.mit.edu 37 1 86900349 86900349 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:86900349C>T ENST00000370565.4 + 6 1055 c.893C>T c.(892-894)cCt>cTt p.P298L NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 298 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) GAGCTTCCACCTCCTCCCACA 0.488000 31 48 0 0 0.003271 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146585 156146585 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:156146585C>T ENST00000368285.3 + 15 2350 c.2083C>T c.(2083-2085)Ctt>Ttt p.L695F SEMA4A_ENST00000355014.2_Missense_Mutation_p.L695F|SEMA4A_ENST00000368284.1_Missense_Mutation_p.L563F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.L563F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.L695F NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 695 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TGCCTTAGTGCTTTCAGGAGC 0.637000 19 60 0 0 0.002780 0 0 MCTP1 79772 broad.mit.edu 37 5 94353140 94353140 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:94353140C>T ENST00000515393.1 - 2 768 c.769G>A c.(769-771)Gat>Aat p.D257N MCTP1_ENST00000429576.2_Missense_Mutation_p.D36N|MCTP1_ENST00000312216.8_Missense_Mutation_p.D36N|MCTP1_ENST00000505208.1_Missense_Mutation_p.D36N NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 257 C2 1. 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) ATTCCGGGATCAGCCAAGGGG 0.378000 30 14 0 0 0.002836 0 0 USH2A 7399 broad.mit.edu 37 1 216172274 216172274 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:216172274C>A ENST00000366943.2 - 34 6998 c.6612G>T c.(6610-6612)atG>atT p.M2204I USH2A_ENST00000307340.3_Missense_Mutation_p.M2204I O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2204 Fibronectin type-III 8. 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) CGTATTGTAGCATATGATCCT 0.368000 HNSCC(13;0.011) 11 22 2.80697e-09 3.61762e-09 0.010729 1 0 C2orf73 129852 broad.mit.edu 37 2 54587621 54587621 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:54587621C>T ENST00000398634.2 + 5 828 c.786C>T c.(784-786)ggC>ggT p.G262G C2orf73_ENST00000491538.1_Intron|C2orf73_ENST00000405749.1_Intron NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 262 breast(2) 2 AGACCTCAGGCGCCACTCAAA 0.433000 4 8 0 0 0.000602 0 0 STEAP1 26872 broad.mit.edu 37 7 89790487 89790487 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:89790487A>G ENST00000297205.2 + 3 653 c.453A>G c.(451-453)ccA>ccG p.P151P STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 151 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) AGAAGTTTCCACATTGGTTGG 0.403000 18 55 0 0 0.007413 0 0 HHIPL2 79802 broad.mit.edu 37 1 222712052 222712052 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:222712052G>A ENST00000343410.6 - 5 1573 c.1515C>T c.(1513-1515)gtC>gtT p.V505V NM_024746.3 NP_079022.2 Q6UWX4 HIPL2_HUMAN HHIP-like 2 505 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 GBM - Glioblastoma multiforme(131;0.0185) AACCACGATAGACATAACCTC 0.468000 16 13 0 0 0.004007 0 0 FAM47C 442444 broad.mit.edu 37 X 37028078 37028078 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:37028078C>A ENST00000358047.3 + 1 1647 c.1595C>A c.(1594-1596)tCc>tAc p.S532Y NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 532 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 ATTCTGGTGTCCAGTCTCCAC 0.612000 151 27 3.64178e-58 7.21453e-58 0.003610 1 0 TTLL1 25809 broad.mit.edu 37 22 43460212 43460212 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:43460212G>T ENST00000331018.7 - 6 862 c.622C>A c.(622-624)Cca>Aca p.P208T TTLL1_ENST00000266254.7_Missense_Mutation_p.P208T O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 208 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1) 23 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) CAGCGCAGTGGACGGTACGTG 0.468000 19 8 7.45023e-12 1.03005e-11 0.010504 1 0 NAV3 89795 broad.mit.edu 37 12 78510664 78510664 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:78510664C>A ENST00000397909.2 + 13 2922 c.2749C>A c.(2749-2751)Ccc>Acc p.P917T NAV3_ENST00000228327.6_Missense_Mutation_p.P917T|NAV3_ENST00000266692.7_Missense_Mutation_p.P917T|NAV3_ENST00000536525.2_Missense_Mutation_p.P917T Q8IVL0 NAV3_HUMAN neuron navigator 3 917 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CATCACCGTCCCCTCTAGGAA 0.433000 HNSCC(70;0.22) 45 54 3.2641e-12 4.56319e-12 0.013114 1 0 GMPS 8833 broad.mit.edu 37 3 155615827 155615827 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:155615827G>T ENST00000496455.1 + 3 656 c.321G>T c.(319-321)atG>atT p.M107I GMPS_ENST00000295920.7_Intron|GMPS_ENST00000476145.1_3'UTR NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 107 Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GCTATGGTATGCAGGTATGTC 0.358000 T MLL AML 48 133 5.2432e-18 8.55003e-18 0.003610 1 0 MTNR1B 4544 broad.mit.edu 37 11 92715432 92715432 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:92715432C>A ENST00000257068.2 + 2 1049 c.1043C>A c.(1042-1044)cCa>cAa p.P348Q NM_005959.3 NP_005950.1 P49286 MTR1B_HUMAN melatonin receptor 1B 348 G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission integral to plasma membrane melatonin receptor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 33 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) Ramelteon(DB00980) CTGCAGAGCCCAGCTCCACCC 0.572000 22 70 1.64113e-05 1.87089e-05 0.010504 1 0 RBMS1 5937 broad.mit.edu 37 2 161174686 161174686 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:161174686A>G ENST00000348849.3 - 3 734 c.304T>C c.(304-306)Tgc>Cgc p.C102R RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.C102R|RBMS1_ENST00000409075.1_Missense_Mutation_p.C69R|RBMS1_ENST00000409972.1_Missense_Mutation_p.C69R|RBMS1_ENST00000409289.2_Missense_Mutation_p.C69R NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 102 RRM 1. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) ATACCTTTGCATTTGTTCGTT 0.284000 6 21 0 0 0.001168 0 0 PHLDB2 90102 broad.mit.edu 37 3 111681104 111681104 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:111681104A>T ENST00000431670.2 + 13 3433 c.3022A>T c.(3022-3024)Agc>Tgc p.S1008C PHLDB2_ENST00000393925.3_Missense_Mutation_p.S1008C|PHLDB2_ENST00000393923.3_Missense_Mutation_p.S992C|PHLDB2_ENST00000412622.1_Missense_Mutation_p.S965C|PHLDB2_ENST00000495180.1_Missense_Mutation_p.S499C|PHLDB2_ENST00000481953.1_Missense_Mutation_p.S965C|PHLDB2_ENST00000470699.2_3'UTR NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 1008 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GAGCCTCGATAGCTCTGATAG 0.428000 68 44 0 0 0.003610 0 0 FRMPD2 143162 broad.mit.edu 37 10 49400802 49400802 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:49400802C>T ENST00000374201.3 - 16 2392 c.2090G>A c.(2089-2091)gGc>gAc p.G697D FRMPD2_ENST00000305531.3_Missense_Mutation_p.G672D|FRMPD2_ENST00000407470.4_Missense_Mutation_p.G665D NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 697 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) ACTCAGCAGGCCTCCTGCAGC 0.537000 12 38 0 0 0.010729 0 0 RYR3 6263 broad.mit.edu 37 15 33895564 33895564 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:33895564A>G ENST00000389232.4 + 18 2233 c.2164_splice c.e18+1 p.S721_splice RYR3_ENST00000415757.3_Splice_Site_p.S721_splice NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 721 B30.2/SPRY 1. 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) ACCTTTGGTCAGGTGAGTACC 0.468000 106 90 0 0 0.003610 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683290 50683290 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:50683290C>A ENST00000008391.3 + 2 729 c.501C>A c.(499-501)agC>agA p.S167R NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 167 S -> N (in Ref. 1; AAK16926). DNA binding|sequence-specific DNA binding transcription factor activity p.S167S(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) CAGGGCCCAGCCTGGGGCTGG 0.632000 51 62 1.56989e-16 2.47629e-16 0.003610 1 0 HSPA12B 116835 broad.mit.edu 37 20 3729935 3729935 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:3729935G>T ENST00000254963.2 + 9 1052 c.907G>T c.(907-909)Gta>Tta p.V303L HSPA12B_ENST00000542646.1_Missense_Mutation_p.V137L NM_001197327.1|NM_052970.4 NP_001184256.1|NP_443202.3 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 303 ATP binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 GGAGTCAGGCGTAGGAGAGCT 0.627000 5 20 1.23904e-05 1.42025e-05 0.000602 1 0 PCDHA4 56144 broad.mit.edu 37 5 140188221 140188221 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:140188221C>A ENST00000530339.1 + 1 1449 c.1449C>A c.(1447-1449)gaC>gaA p.D483E PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.D483E|PCDHA4_ENST00000512229.2_Missense_Mutation_p.D483E|PCDHA3_ENST00000522353.2_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGACGCGGACGCGCAGGAGA 0.657000 37 16 1.59361e-14 2.38756e-14 0.006999 1 0 ZNF724P 440519 broad.mit.edu 37 19 23405738 23405738 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:23405738G>C ENST00000418100.1 - 4 1426 c.1309C>G c.(1309-1311)Ctt>Gtt p.L437V endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 TGTGTAGTAAGTTGTGAGAAC 0.388000 12 34 0 0 0.010729 0 0 CHD6 84181 broad.mit.edu 37 20 40076594 40076594 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:40076594C>A ENST00000373233.3 - 24 3878 c.3701G>T c.(3700-3702)cGg>cTg p.R1234L CHD6_ENST00000309279.7_Missense_Mutation_p.R717L NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1234 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) GTACAGCATCCGGACTCGCAA 0.403000 42 33 3.43241e-23 6.01152e-23 0.009718 1 0 TNN 63923 broad.mit.edu 37 1 175067700 175067700 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:175067700G>A ENST00000239462.4 + 9 2201 c.2088G>A c.(2086-2088)gaG>gaA p.E696E NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 696 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGGACCAGGAGAGCAAGAAGG 0.582000 13 74 0 0 0.002450 0 0 GLRA1 2741 broad.mit.edu 37 5 151266284 151266284 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:151266284T>C ENST00000274576.4 - 3 542 c.250A>G c.(250-252)Atg>Gtg p.M84V GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000545569.1_Start_Codon_SNP_p.M1V|GLRA1_ENST00000455880.2_Missense_Mutation_p.M84V NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 84 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TTACTCACCATGGTTGTCTCA 0.463000 40 15 0 0 0.008740 0 0 AIM1L 55057 broad.mit.edu 37 1 26664907 26664907 + Missense_Mutation SNP A A T rs151324745 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:26664907A>T ENST00000527815.1 - 6 833 c.784T>A c.(784-786)Tac>Aac p.Y262N AIM1L_ENST00000308182.5_Missense_Mutation_p.Y91N|AIM1L_ENST00000522993.1_5'UTR NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 91 Beta/gamma crystallin 'Greek key' 6. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GAGGTGGGGTACTCTCCAGGT 0.587000 22 56 0 0 0.002780 0 0 POM121L12 285877 broad.mit.edu 37 7 53103601 53103601 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:53103601G>T ENST00000408890.4 + 1 253 c.237G>T c.(235-237)gaG>gaT p.E79D NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 79 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 ACCTCATCGAGGTGCGGCCCA 0.711000 11 38 3.86212e-05 4.32419e-05 0.008291 1 0 ZNF662 389114 broad.mit.edu 37 3 42950387 42950387 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:42950387G>C ENST00000541208.1 + 3 506 c.137G>C c.(136-138)aGg>aCg p.R46T ZNF662_ENST00000422021.1_Missense_Mutation_p.R46T|ZNF662_ENST00000440367.2_Missense_Mutation_p.R46T|ZNF662_ENST00000328199.6_Missense_Mutation_p.R106T|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000430067.2_3'UTR Q6ZS27 ZN662_HUMAN zinc finger protein 662 46 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) GAGGCCCCAAGGGGCATCTCC 0.517000 11 25 0 0 0.010729 0 0 PROX2 283571 broad.mit.edu 37 14 75321869 75321869 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:75321869G>C ENST00000556084.2 - 3 1063 c.1064C>G c.(1063-1065)cCa>cGa p.P355R RP11-316E14.6_ENST00000553381.1_RNA|PROX2_ENST00000556489.2_Missense_Mutation_p.P582R|PROX2_ENST00000445876.1_Missense_Mutation_p.P582R NM_001080408.2 NP_001073877.2 Q3B8N5 PROX2_HUMAN prospero homeobox 2 582 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding kidney(1)|large_intestine(2)|lung(3) 6 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00652) GAATATCTCTGGGATGTCACT 0.463000 3 9 0 0 0.004672 0 0 IDE 3416 broad.mit.edu 37 10 94230104 94230104 + Splice_Site SNP T T A rs139681738 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:94230104T>A ENST00000265986.6 - 18 2173 c.e18-2 IDE_ENST00000496903.1_Splice_Site|IDE_ENST00000371581.5_Splice_Site NM_004969.3 NP_004960.2 P14735 IDE_HUMAN insulin-degrading enzyme beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation cell surface|extracellular space|soluble fraction ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2) 33 Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGTTACATCTGCAAAGGTGT 0.448000 27 80 0 0 0.004656 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883478 19883478 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:19883478C>A ENST00000300571.2 - 2 881 c.690G>T c.(688-690)aaG>aaT p.K230N GPRC5B_ENST00000569479.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000537135.1_Missense_Mutation_p.K256N|GPRC5B_ENST00000535671.1_Missense_Mutation_p.K230N|GPRC5B_ENST00000569847.1_Missense_Mutation_p.K230N NM_016235.1 NP_057319.1 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, member B 230 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 CCCCGTTCAGCTTCCACCTCT 0.572000 31 34 9.65021e-13 1.36893e-12 0.010818 1 0 USP13 8975 broad.mit.edu 37 3 179460012 179460012 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:179460012A>C ENST00000263966.3 + 12 1879 c.1408A>C c.(1408-1410)Agc>Cgc p.S470R USP13_ENST00000496897.1_Missense_Mutation_p.S405R|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 470 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AGAAAACCCAAGCGATGTTTT 0.448000 8 21 0 0 0.008291 0 0 KLHL36 79786 broad.mit.edu 37 16 84695417 84695417 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:84695417G>T ENST00000564996.1 + 5 1670 c.1529G>T c.(1528-1530)cGc>cTc p.R510L KLHL36_ENST00000258157.5_Missense_Mutation_p.R447L NM_024731.2 NP_079007.2 Q8N4N3 KLH36_HUMAN kelch-like family member 36 510 endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 TCCATGGAGCGCTTCGACGTG 0.682000 15 6 1.49906e-05 1.71204e-05 0.002450 1 0 CDH7 1005 broad.mit.edu 37 18 63525089 63525089 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:63525089T>A ENST00000536984.2 + 8 1967 c.1273T>A c.(1273-1275)Ttc>Atc p.F425I CDH7_ENST00000323011.3_Missense_Mutation_p.F425I|CDH7_ENST00000397968.2_Missense_Mutation_p.F425I Q9ULB5 CADH7_HUMAN cadherin 7, type 2 425 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) GGAGAGATACTTCAATATTGA 0.388000 12 23 0 0 0.001368 0 0 SERPINA3 12 broad.mit.edu 37 14 95080781 95080781 + Missense_Mutation SNP G G T rs140910224 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:95080781G>T ENST00000553947.1 + 5 966 c.78G>T c.(76-78)atG>atT p.M26I SERPINA3_ENST00000393080.4_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000393078.3_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000467132.1_Start_Codon_SNP_p.M1I|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 1 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) AGTTGAGAATGGAGAGAATGT 0.592000 12 42 7.03913e-09 8.97972e-09 0.001368 1 0 PADI1 29943 broad.mit.edu 37 1 17552534 17552534 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:17552534A>G ENST00000375471.4 + 6 625 c.533A>G c.(532-534)cAg>cGg p.Q178R NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 178 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) CCAGACCTGCAGGACATGTCC 0.562000 33 82 0 0 0.009535 0 0 FRMPD4 9758 broad.mit.edu 37 X 12722507 12722507 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:12722507C>G ENST00000380682.1 + 11 1606 c.1100C>G c.(1099-1101)cCc>cGc p.P367R NM_014728.3 NP_055543.2 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 367 FERM. positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3) 22 ACTTTTCTTCCCTCTGCTGTG 0.373000 16 16 0 0 0.003163 0 0 DCHS1 8642 broad.mit.edu 37 11 6661763 6661763 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:6661763G>T ENST00000299441.3 - 2 1493 c.1082C>A c.(1081-1083)tCc>tAc p.S361Y NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 361 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACAGTCATGGAGGGCTGATT 0.582000 16 41 3.57192e-18 5.85515e-18 0.006122 1 0 TEKT4 150483 broad.mit.edu 37 2 95539816 95539816 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:95539816G>T ENST00000295201.4 + 3 813 c.676G>T c.(676-678)Gtg>Ttg p.V226L AC097374.2_ENST00000568768.1_RNA NM_144705.2 NP_653306.1 Q8WW24 TEKT4_HUMAN tektin 4 226 cell projection organization|microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 28 GAGCACCGAGGTGCAGGCTCA 0.652000 19 57 1.00905e-13 1.47476e-13 0.008871 1 0 RGS7BP 401190 broad.mit.edu 37 5 63905072 63905072 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:63905072C>A ENST00000334025.2 + 6 1093 c.767C>A c.(766-768)tCa>tAa p.S256* NM_001029875.1|NM_001271890.1|NM_001271891.1 NP_001025046.1|NP_001258819.1|NP_001258820.1 Q6MZT1 R7BP_HUMAN regulator of G-protein signaling 7 binding protein 256 negative regulation of signal transduction cytoplasm|nucleus|plasma membrane breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|stomach(1) 11 Lung NSC(810;0.000518)|Prostate(74;0.0435)|Ovarian(174;0.186) Lung(70;0.147) TGTCTCATCTCAAGCTAGGTG 0.478000 20 4 2.37509e-13 3.41948e-13 0.010504 1 0 TSHZ3 57616 broad.mit.edu 37 19 31767539 31767539 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:31767539G>T ENST00000240587.4 - 2 3487 c.3160C>A c.(3160-3162)Cac>Aac p.H1054N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 1054 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TTAACAGCGTGCTTGCTGGCA 0.478000 22 32 7.45023e-12 1.03005e-11 0.010504 1 0 PLD1 5337 broad.mit.edu 37 3 171431773 171431773 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:171431773A>T ENST00000356327.5 - 9 891 c.821T>A c.(820-822)tTc>tAc p.F274Y PLD1_ENST00000342215.6_Missense_Mutation_p.F274Y|PLD1_ENST00000340989.4_Missense_Mutation_p.F274Y|PLD1_ENST00000351298.4_Missense_Mutation_p.F274Y NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 274 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CAGCAGGACGAAGGCAATGGC 0.358000 29 28 0 0 0.008361 0 0 BICC1 80114 broad.mit.edu 37 10 60272971 60272971 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:60272971G>T ENST00000373886.3 + 1 72 c.68G>T c.(67-69)aGc>aTc p.S23I NM_001080512.1 NP_001073981.1 Q9H694 BICC1_HUMAN bicaudal C homolog 1 (Drosophila) 23 multicellular organismal development RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 44 AGCGAGCGCAGCACCGACTCC 0.751000 7 3 0.00198382 0.00209579 0.001984 1 0 SPTBN1 6711 broad.mit.edu 37 2 54852007 54852007 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:54852007C>T ENST00000333896.5 + 10 1595 c.1210C>T c.(1210-1212)Cag>Tag p.Q404* SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.Q417* NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 417 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GCTCATAAGACAGGAGAAACT 0.493000 18 20 0 0 0.004990 0 0 MSH4 4438 broad.mit.edu 37 1 76262883 76262883 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:76262883C>T ENST00000263187.3 + 1 317 c.213C>T c.(211-213)ccC>ccT p.P71P NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 71 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 GCAGCCTTCCCTGCCCCGCGC 0.667000 Mismatch excision repair (MMR) 5 8 0 0 0.001168 0 0 CYYR1 116159 broad.mit.edu 37 21 27945254 27945254 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:27945254G>A ENST00000299340.4 - 1 349 c.6C>T c.(4-6)gaC>gaT p.D2D CYYR1_ENST00000400043.3_Silent_p.D2D|CYYR1_ENST00000435845.2_Silent_p.D110D NM_052954.2 NP_443186.1 Q96J86 CYYR1_HUMAN cysteine/tyrosine-rich 1 2 integral to membrane large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 15 GCCTCGGAGCGTCCATCCAAG 0.647000 25 22 0 0 0.004656 0 0 FZD10 11211 broad.mit.edu 37 12 130647701 130647701 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:130647701G>C ENST00000539839.1 + 1 698 c.116G>C c.(115-117)cGc>cCc p.R39P FZD10_ENST00000229030.4_Missense_Mutation_p.A72P NM_007197.3 NP_009128.1 Q9ULW2 FZD10_HUMAN frizzled family receptor 10 0 FZ. brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GCACGAGTTCGCGCCGCTGGT 0.637000 35 29 0 0 0.003755 0 0 MGA 23269 broad.mit.edu 37 15 42058484 42058484 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:42058484A>G ENST00000219905.7 + 24 8385 c.8204A>G c.(8203-8205)aAt>aGt p.N2735S MGA_ENST00000545763.1_Missense_Mutation_p.N2526S|MGA_ENST00000566586.1_Missense_Mutation_p.N2526S|MGA_ENST00000570161.1_Missense_Mutation_p.N2735S|MGA_ENST00000389936.4_Missense_Mutation_p.N2696S NM_001164273.1 NP_001157745.1 Q8IWI9 MGAP_HUMAN MGA, MAX dimerization protein 2696 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) GACGTTTCCAATATGCAGAAA 0.418000 4 27 0 0 0.009096 0 0 SEZ6 124925 broad.mit.edu 37 17 27308831 27308831 + Silent SNP G G A rs1976197 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:27308831G>A ENST00000317338.12 - 2 710 c.282C>T c.(280-282)ttC>ttT p.F94F SEZ6_ENST00000360295.9_Silent_p.F94F|SEZ6_ENST00000335960.6_Silent_p.F94F|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000442608.3_Silent_p.F94F Q53EL9 SEZ6_HUMAN seizure related 6 homolog (mouse) 94 Pro-rich. 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) GGTCAGGCTGGAAGGGCAGTG 0.632000 19 31 0 0 0.008871 0 0 GHR 2690 broad.mit.edu 37 5 42629194 42629194 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:42629194G>T ENST00000230882.4 + 3 315 c.125G>T c.(124-126)gGc>gTc p.G42V GHR_ENST00000357703.3_Intron|GHR_ENST00000537449.1_5'UTR NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 42 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTTAATCCAGGCCTAAAGACA 0.378000 48 2 6.03219e-31 1.12398e-30 0.003610 1 0 BEND6 221336 broad.mit.edu 37 6 56846713 56846713 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:56846713C>A ENST00000370748.3 + 2 540 c.105C>A c.(103-105)gaC>gaA p.D35E BEND6_ENST00000370746.3_Missense_Mutation_p.D35E|BEND6_ENST00000370745.1_Missense_Mutation_p.D35E|BEND6_ENST00000370750.2_Missense_Mutation_p.D35E Q5SZJ8 BEND6_HUMAN BEN domain containing 6 35 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1) 17 CAAATAGTGACATGGATAAAG 0.338000 19 21 4.35082e-09 5.58436e-09 0.010504 1 0 ARID4A 5926 broad.mit.edu 37 14 58772772 58772772 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:58772772T>C ENST00000355431.3 + 5 589 c.216T>C c.(214-216)gaT>gaC p.D72D ARID4A_ENST00000395168.3_Silent_p.D72D|ARID4A_ENST00000348476.3_Silent_p.D72D|ARID4A_ENST00000431317.2_Silent_p.D72D NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 72 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGACATCTGATGGATCTTTTC 0.348000 6 52 0 0 0.001168 0 0 APBB1 322 broad.mit.edu 37 11 6422868 6422868 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:6422868T>C ENST00000389906.2 - 9 1538 c.1439A>G c.(1438-1440)cAc>cGc p.H480R APBB1_ENST00000533407.1_Missense_Mutation_p.H219R|APBB1_ENST00000530885.1_Missense_Mutation_p.H258R|APBB1_ENST00000524626.1_5'UTR|APBB1_ENST00000311051.3_Missense_Mutation_p.H478R|APBB1_ENST00000299402.6_Missense_Mutation_p.H478R NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 480 PID 1. apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GCGAAACACGTGGCACTTGAG 0.587000 16 25 0 0 0.004990 0 0 CCDC102B 79839 broad.mit.edu 37 18 66506000 66506000 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:66506000G>T ENST00000360242.5 + 3 781 c.664G>T c.(664-666)Gat>Tat p.D222Y CCDC102B_ENST00000319445.6_Missense_Mutation_p.D222Y|CCDC102B_ENST00000358653.5_Missense_Mutation_p.D222Y|CCDC102B_ENST00000584156.1_Missense_Mutation_p.D222Y|CCDC102B_ENST00000577772.1_3'UTR NM_024781.2 NP_079057.2 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 222 breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1) 36 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) GCCCAATCTAGATGGTGTTGA 0.373000 6 8 5.9392e-07 7.22382e-07 0.001168 1 0 AK7 122481 broad.mit.edu 37 14 96875234 96875234 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:96875234C>T ENST00000267584.4 + 4 498 c.454C>T c.(454-456)Ctg>Ttg p.L152L AK7_ENST00000554313.1_3'UTR NM_152327.3 NP_689540.2 Q96M32 KAD7_HUMAN adenylate kinase 7 152 cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 31 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) ATTTATTTTACTGTCGACGGT 0.468000 16 23 0 0 0.004990 0 0 OXCT2 64064 broad.mit.edu 37 1 40236278 40236278 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:40236278C>A ENST00000327582.5 - 1 742 c.650G>T c.(649-651)cGg>cTg p.R217L BMP8B_ENST00000397360.2_Intron|BMP8B_ENST00000372827.3_Intron NM_022120.1 NP_071403.1 Q9BYC2 SCOT2_HUMAN 3-oxoacid CoA transferase 2 217 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) GTTTCCTGCCCGGTCGGCCTT 0.622000 OREG0013400 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 13 2.52991e-16 3.98556e-16 0.003610 1 0 KRT72 140807 broad.mit.edu 37 12 52984737 52984737 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52984737C>A ENST00000293745.2 - 6 1057 c.972G>T c.(970-972)gaG>gaT p.E324D KRT72_ENST00000537672.2_Missense_Mutation_p.E324D|KRT72_ENST00000354310.4_Intron|KRT72_ENST00000398066.3_Missense_Mutation_p.E136D NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 324 Coil 2.|Rod. keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) TGACCTGCAGCTCCTGGATCT 0.542000 31 42 4.3181e-19 7.13425e-19 0.002836 1 0 ANKK1 255239 broad.mit.edu 37 11 113269850 113269850 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:113269850G>T ENST00000303941.3 + 8 1253 c.1159G>T c.(1159-1161)Gac>Tac p.D387Y NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 387 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CCACGAGGTAGACGTGGACTG 0.617000 3 8 0.004672 0.00489857 0.004672 1 0 CABP1 9478 broad.mit.edu 37 12 121098927 121098927 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:121098927G>A ENST00000453000.1 + 5 1313 c.801G>A c.(799-801)atG>atA p.M267I CABP1_ENST00000351200.2_Missense_Mutation_p.M128I|CABP1_ENST00000288616.3_Missense_Mutation_p.M188I|CABP1_ENST00000316803.3_Missense_Mutation_p.M331I Q9NZU7 CABP1_HUMAN calcium binding protein 1 331 EF-hand 2. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GAGAGGCTATGAGGAAGCTCC 0.532000 56 49 0 0 0.003610 0 0 VCAM1 7412 broad.mit.edu 37 1 101186080 101186080 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:101186080A>T ENST00000294728.2 + 2 214 c.113A>T c.(112-114)cAg>cTg p.Q38L VCAM1_ENST00000370115.1_Missense_Mutation_p.Q38L|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q38L|VCAM1_ENST00000370119.4_Missense_Mutation_p.Q38L NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 38 Ig-like C2-type 1. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TATCTTGCTCAGATTGGTGAC 0.433000 29 13 0 0 0.010818 0 0 MTERF 7978 broad.mit.edu 37 7 91504069 91504069 + Translation_Start_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:91504069T>A ENST00000419292.1 - 0 55 MTERF_ENST00000406735.2_De_novo_Start_OutOfFrame|CTB-104F4.2_ENST00000454222.1_RNA|MTERF_ENST00000351870.3_Missense_Mutation_p.K13N Q99551 MTERF_HUMAN mitochondrial transcription termination factor DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription mitochondrial nucleoid double-stranded DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1) 14 all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176) AGTTCAAACCTTTTGAAATGC 0.343000 7 14 0 0 0.003080 0 0 POU3F3 5455 broad.mit.edu 37 2 105472187 105472187 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:105472187C>G ENST00000361360.2 + 1 219 c.219C>G c.(217-219)gtC>gtG p.V73V RP11-13J10.1_ENST00000598623.1_RNA NM_006236.1 NP_006227.1 P20264 PO3F3_HUMAN POU class 3 homeobox 3 73 Gly-rich. metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation nucleus sequence-specific DNA binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 12 TCAAGATGGTCCAGAGCGACT 0.761000 4 18 0 0 0.009096 0 0 FAM24A 118670 broad.mit.edu 37 10 124672368 124672368 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:124672368C>A ENST00000368894.1 + 3 337 c.216C>A c.(214-216)acC>acA p.T72T NM_001029888.1 NP_001025059.1 A6NFZ4 FA24A_HUMAN family with sequence similarity 24, member A 72 extracellular region large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 9 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141) AAGCCACCACCATGGAGTCTT 0.502000 20 46 1.33834e-09 1.73734e-09 0.007413 1 0 OR2T34 127068 broad.mit.edu 37 1 248737347 248737347 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:248737347C>A ENST00000328782.2 - 1 733 c.712G>T c.(712-714)Ggc>Tgc p.G238C NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G238S(1) breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TTCCTGCGGCCGGCGGCAGAA 0.562000 108 69 3.10586e-51 6.12381e-51 0.003610 1 0 CCDC11 220136 broad.mit.edu 37 18 47788483 47788483 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:47788483C>A ENST00000398545.4 - 2 293 c.176G>T c.(175-177)cGg>cTg p.R59L NM_145020.3 NP_659457.2 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 59 endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1) 20 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) CAAGCGATCCCGCTCACTTGA 0.478000 20 29 8.28177e-16 1.28691e-15 0.007413 1 0 GP5 2814 broad.mit.edu 37 3 194118183 194118183 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:194118183G>T ENST00000401815.1 - 1 900 c.829C>A c.(829-831)Ccg>Acg p.P277T GP5_ENST00000323007.3_Missense_Mutation_p.P277T P40197 GPV_HUMAN glycoprotein V (platelet) 277 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) TCTGCCAGCGGGTTCTCGAAC 0.617000 21 23 8.10497e-08 1.0063e-07 0.010504 1 0 CFAP54 144535 broad.mit.edu 37 12 97147590 97147590 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:97147590T>A ENST00000524981.3 + 23 3107 c.3107T>A c.(3106-3108)cTt>cAt p.L1036H Q6ZTY8 CL063_HUMAN 1010 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 TTACCTGCTCTTCATCTGTTT 0.433000 37 61 0 0 0.003755 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151055096 151055096 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:151055096G>T ENST00000367328.1 + 3 591 c.279G>T c.(277-279)gtG>gtT p.V93V PLEKHG1_ENST00000358517.2_Silent_p.V93V NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 93 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AGTGGAGAGTGGACTCAAACG 0.602000 25 8 7.88262e-20 1.31447e-19 0.003330 1 0 AVPR1A 552 broad.mit.edu 37 12 63543938 63543938 + Missense_Mutation SNP C C A rs112945642 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:63543938C>A ENST00000299178.2 - 1 784 c.679G>T c.(679-681)Gcg>Tcg p.A227S NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 227 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) ACCACGGGCGCCACAAAGATG 0.622000 51 75 4.00472e-15 6.09456e-15 0.003610 1 0 CCDC54 84692 broad.mit.edu 37 3 107096481 107096481 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:107096481T>A ENST00000261058.1 + 1 294 c.47T>A c.(46-48)aTg>aAg p.M16K NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 16 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 GCTAGGCAGATGTGGACTTCA 0.418000 59 51 0 0 0.003610 0 0 TBX19 9095 broad.mit.edu 37 1 168282075 168282075 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:168282075G>T ENST00000367821.3 + 8 1233 c.1182G>T c.(1180-1182)gtG>gtT p.V394V TBX19_ENST00000465440.1_3'UTR NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 394 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) CCCCTTCTGTGCTCTCCACCC 0.647000 13 60 5.50884e-06 6.39637e-06 0.001368 1 0 SNHG14 104472715 broad.mit.edu 37 15 25474020 25474020 + RNA SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:25474020G>C ENST00000453082.2 + 0 1332 NR_003343.1 CTGAAACTCTGACCCTTCCTG 0.592000 32 27 0 0 0.008361 0 0 FHOD3 80206 broad.mit.edu 37 18 34298168 34298168 + Silent SNP G G T rs73949877 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:34298168G>T ENST00000257209.4 + 16 2504 c.2382G>T c.(2380-2382)ccG>ccT p.P794P FHOD3_ENST00000590592.1_Silent_p.P969P|FHOD3_ENST00000359247.4_Silent_p.P777P|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Silent_p.P756P NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 777 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AAACAGCGCCGGTGCAGCCGA 0.537000 43 97 6.33695e-27 1.15334e-26 0.007835 1 0 ZFHX4 79776 broad.mit.edu 37 8 77767432 77767432 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:77767432A>G ENST00000521891.2 + 10 8723 c.8275A>G c.(8275-8277)Aca>Gca p.T2759A ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2714A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2714A|ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2733A NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2714 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) TGTTAGTAAAACAGCAGAGCT 0.388000 HNSCC(33;0.089) 22 64 0 0 0.002299 0 0 FOLH1 2346 broad.mit.edu 37 11 49178291 49178291 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:49178291C>A ENST00000340334.7 - 16 1924 c.1556G>T c.(1555-1557)aGa>aTa p.R519I FOLH1_ENST00000256999.2_Missense_Mutation_p.R534I|FOLH1_ENST00000533034.1_Missense_Mutation_p.R519I|FOLH1_ENST00000343844.4_Missense_Mutation_p.R226I|FOLH1_ENST00000356696.3_Missense_Mutation_p.R534I NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 534 NAALADase. proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) ATACCGTGCTCTGCCTGAAGC 0.308000 45 42 4.09171e-25 7.31955e-25 0.003610 1 0 ASTN1 460 broad.mit.edu 37 1 176905413 176905413 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:176905413G>C ENST00000367654.2 - 15 2508 c.2495C>G c.(2494-2496)gCc>gGc p.A832G ASTN1_ENST00000424564.2_Missense_Mutation_p.A824G|ASTN1_ENST00000361833.2_Missense_Mutation_p.A824G|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.A824G O14525 ASTN1_HUMAN astrotactin 1 832 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CTGAGAGATGGCCACTTGGTT 0.542000 11 50 0 0 0.010729 0 0 MYBPC1 4604 broad.mit.edu 37 12 102057219 102057219 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:102057219C>A ENST00000549145.1 + 21 2301 c.2201C>A c.(2200-2202)cCt>cAt p.P734H MYBPC1_ENST00000547405.1_Missense_Mutation_p.P695H|MYBPC1_ENST00000545503.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000541119.1_Missense_Mutation_p.P709H|MYBPC1_ENST00000441232.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000553190.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000452455.2_Missense_Mutation_p.P721H|MYBPC1_ENST00000392934.3_Missense_Mutation_p.P708H|MYBPC1_ENST00000551300.1_Missense_Mutation_p.P622H|MYBPC1_ENST00000361685.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000361466.2_Missense_Mutation_p.P746H|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.P702H|MYBPC1_ENST00000550270.1_Missense_Mutation_p.P721H|MYBPC1_ENST00000547509.1_Missense_Mutation_p.P707H|MYBPC1_ENST00000360610.2_Missense_Mutation_p.P721H Q00872 MYPC1_HUMAN myosin binding protein C, slow type 721 Fibronectin type-III 2. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ACAAGCCCTCCTACTCTTCTG 0.453000 38 80 4.14481e-20 6.93012e-20 0.006230 1 0 NLRP9 338321 broad.mit.edu 37 19 56223834 56223834 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:56223834T>G ENST00000332836.2 - 7 2651 c.2624A>C c.(2623-2625)cAg>cCg p.Q875P NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 875 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) TGCACATAACTGTCTGACACC 0.413000 33 9 0 0 0.004289 0 0 KIAA1045 23349 broad.mit.edu 37 9 34976209 34976209 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:34976209C>A ENST00000242315.3 + 4 707 c.625C>A c.(625-627)Cgg>Agg p.R209R KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Silent_p.R209R NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 209 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GACCTTTCAGCGGTGTAAAGT 0.507000 22 21 2.21704e-12 3.11677e-12 0.002780 1 0 BTBD10 84280 broad.mit.edu 37 11 13435091 13435091 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:13435091T>G ENST00000278174.5 - 6 1039 c.794A>C c.(793-795)aAa>aCa p.K265T BTBD10_ENST00000528120.1_Missense_Mutation_p.K217T|BTBD10_ENST00000530907.1_Missense_Mutation_p.K273T NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 265 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) ATCTCTACATTTAATAGTGCT 0.323000 95 165 0 0 0.003610 0 0 GDF10 2662 broad.mit.edu 37 10 48429305 48429305 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:48429305G>T ENST00000224605.2 - 2 846 c.581C>A c.(580-582)gCg>gAg p.A194E NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 194 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CGGTGGGGGCGCCAGGGCCAT 0.731000 21 5 1.22574e-08 1.55574e-08 0.002299 1 0 POLE 5426 broad.mit.edu 37 12 133209285 133209285 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:133209285G>T ENST00000320574.5 - 44 6144 c.6101C>A c.(6100-6102)tCc>tAc p.S2034Y POLE_ENST00000535270.1_Missense_Mutation_p.S2007Y NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 2034 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGCCTCCTGGGAGAGCTGGCT 0.647000 DNA polymerases (catalytic subunits) 31 36 3.86903e-22 6.69209e-22 0.002836 1 0 PSG4 5672 broad.mit.edu 37 19 43702373 43702373 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:43702373A>G ENST00000405312.3 - 3 722 c.485T>C c.(484-486)aTg>aCg p.M162T PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Missense_Mutation_p.M162T NM_002780.3 NP_002771.2 Q00888 PSG4_HUMAN pregnancy specific beta-1-glycoprotein 4 162 Ig-like C2-type 1. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 24 Prostate(69;0.00682) CACAGCCTCCATGGCCTCCCT 0.542000 111 45 0 0 0.003610 0 0 ENGASE 64772 broad.mit.edu 37 17 77077075 77077075 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:77077075A>T ENST00000579016.1 + 6 792 c.792A>T c.(790-792)ccA>ccT p.P264P ENGASE_ENST00000539857.2_Silent_p.P78P NM_001042573.2 NP_001036038.1 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 264 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1) 25 GGCAGGTCCCAGGGGGCCTGG 0.592000 15 33 0 0 0.003163 0 0 DIS3 22894 broad.mit.edu 37 13 73350083 73350083 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:73350083C>T ENST00000377767.4 - 5 902 c.802G>A c.(802-804)Gac>Aac p.D268N DIS3_ENST00000545453.1_Missense_Mutation_p.D106N|DIS3_ENST00000377780.4_Missense_Mutation_p.D238N NM_014953.3 NP_055768.3 Q9Y2L1 RRP44_HUMAN DIS3 mitotic control homolog (S. cerevisiae) 268 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding p.D268N(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TCTTCATTGTCGCCATGAATC 0.303000 Multiple Myeloma(4;0.011) 5 14 0 0 0.000602 0 0 ATP6V0A2 23545 broad.mit.edu 37 12 124209239 124209239 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:124209239C>T ENST00000330342.3 + 4 581 c.333C>T c.(331-333)gtC>gtT p.V111V NM_012463.3 NP_036595.2 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a2 111 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) TGAGAGAAGTCACTAAGAACA 0.398000 51 174 0 0 0.003610 0 0 MORC1 27136 broad.mit.edu 37 3 108773722 108773722 + Missense_Mutation SNP C C G rs114679116 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:108773722C>G ENST00000232603.5 - 14 1265 c.1183G>C c.(1183-1185)Gca>Cca p.A395P MORC1_ENST00000483760.1_Missense_Mutation_p.A395P NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 395 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 ACCACGCCTGCGCCAAGTCTG 0.303000 31 20 0 0 0.009535 0 0 DBNDD1 79007 broad.mit.edu 37 16 90072808 90072808 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:90072808C>T ENST00000392973.3 - 3 1161 c.430G>A c.(430-432)Gac>Aac p.D144N DBNDD1_ENST00000002501.6_Missense_Mutation_p.D138N|DBNDD1_ENST00000304733.3_Missense_Mutation_p.D158N|DBNDD1_ENST00000568838.1_Missense_Mutation_p.D258N Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 138 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) CGCTCGGGGTCGCCTAGGGGC 0.682000 5 15 0 0 0.001168 0 0 RASSF2 9770 broad.mit.edu 37 20 4768348 4768348 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:4768348C>T ENST00000478553.1 - 7 714 c.e7-1 RASSF2_ENST00000379376.2_Silent_p.Q248Q|RASSF2_ENST00000379400.3_Silent_p.Q248Q P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 CACATGGGCCCTGGAGGATTC 0.557000 29 29 0 0 0.006320 0 0 MDGA1 266727 broad.mit.edu 37 6 37623514 37623514 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:37623514C>A ENST00000434837.2 - 4 1719 c.541G>T c.(541-543)Gac>Tac p.D181Y MDGA1_ENST00000505425.1_Missense_Mutation_p.D181Y|MDGA1_ENST00000297153.7_Missense_Mutation_p.D181Y NM_153487.3 NP_705691.1 Q8NFP4 MDGA1_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 1 181 Ig-like 2. brain development|neuron migration|spinal cord association neuron differentiation anchored to plasma membrane central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 38 ACCCCATTGTCCTGGCTGTGG 0.602000 12 5 0.00185496 0.00196131 0.001855 1 0 CCDC85A 114800 broad.mit.edu 37 2 56420123 56420123 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:56420123G>A ENST00000407595.2 + 2 1290 c.788G>A c.(787-789)aGa>aAa p.R263K RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 263 His-rich. breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CAGAAACCCAGAGCCTGTGGA 0.657000 17 37 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179469749 179469749 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179469749C>T ENST00000589042.1 - 280 54379 c.54155G>A c.(54154-54156)gGc>gAc p.G18052D TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16411D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9112D|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8987D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15484D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9179D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16411 Fibronectin type-III 31. 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) GAACACTGAGCCAAGGCGATT 0.448000 84 108 0 0 0.003610 0 0 EPG5 57724 broad.mit.edu 37 18 43464770 43464770 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:43464770T>A ENST00000282041.5 - 30 5150 c.5116A>T c.(5116-5118)Atc>Ttc p.I1706F EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 1706 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 ATGCCACTGATAAATACCTTG 0.398000 11 9 0 0 0.010729 0 0 APOB 338 broad.mit.edu 37 2 21237382 21237382 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:21237382C>A ENST00000233242.1 - 24 3907 c.3780G>T c.(3778-3780)gaG>gaT p.E1260D NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1260 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) GGAGGTTGAACTCCTTCAGGC 0.458000 14 32 2.61681e-11 3.55139e-11 0.002450 1 0 UGT3A2 167127 broad.mit.edu 37 5 36066872 36066872 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:36066872A>G ENST00000282507.3 - 1 121 c.20T>C c.(19-21)cTt>cCt p.L7P UGT3A2_ENST00000513300.1_Missense_Mutation_p.L7P|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_5'UTR NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 7 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACTAGAAGAAGCACTCGCTG 0.607000 72 273 0 0 0.003610 0 0 TTC18 118491 broad.mit.edu 37 10 75053068 75053068 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:75053068C>T ENST00000401621.2 - 17 2053 c.1933G>A c.(1933-1935)Gca>Aca p.A645T TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.A645T|TTC18_ENST00000310715.3_Missense_Mutation_p.A645T|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000355577.3_Missense_Mutation_p.A114T Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 645 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TTGACTTCTGCTTCAAATGCA 0.378000 18 15 0 0 0.007413 0 0 DOPEY2 9980 broad.mit.edu 37 21 37623566 37623566 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:37623566G>A ENST00000399151.3 + 22 5190 c.5105G>A c.(5104-5106)cGt>cAt p.R1702H NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1702 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAAGCCCAGCGTCACAGTAAG 0.423000 12 36 0 0 0.001368 0 0 CASS4 57091 broad.mit.edu 37 20 55025690 55025690 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:55025690C>A ENST00000371336.3 + 4 798 c.597C>A c.(595-597)gcC>gcA p.A199A CASS4_ENST00000360314.3_Silent_p.A199A|CASS4_ENST00000434344.1_Silent_p.A199A NM_001164114.1|NM_020356.3 NP_001157586.1|NP_065089.2 Q9NQ75 CASS4_HUMAN Cas scaffolding protein family member 4 199 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 54 ACATACCAGCCAGCCCCAAGA 0.488000 12 24 0.000151284 0.000166267 0.001855 1 0 KLB 152831 broad.mit.edu 37 4 39409048 39409048 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:39409048C>T ENST00000257408.4 + 1 576 c.479C>T c.(478-480)cCc>cTc p.P160L NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta 160 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 AGGCTTTTCCCCGATGGAATA 0.383000 40 28 0 0 0.004878 0 0 WDFY3 23001 broad.mit.edu 37 4 85687018 85687018 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:85687018T>G ENST00000322366.6 - 32 5540 c.5133A>C c.(5131-5133)ggA>ggC p.G1711G WDFY3_ENST00000295888.4_Silent_p.G1711G Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 1711 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAAGCCATCCTCCACCACTGA 0.403000 27 10 0 0 0.010818 0 0 OR2T10 127069 broad.mit.edu 37 1 248756850 248756850 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:248756850T>C ENST00000330500.2 - 1 250 c.220A>G c.(220-222)Att>Gtt p.I74V NM_001004693.1 NP_001004693.1 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, member 10 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGACAGAAATATATGTCAAG 0.443000 12 26 0 0 0.010729 0 0 OR3A3 8392 broad.mit.edu 37 17 3324735 3324735 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:3324735C>A ENST00000291231.1 + 1 874 c.874C>A c.(874-876)Ccc>Acc p.P292T NM_012373.2 NP_036505.2 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, member 3 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1) 9 TGTGATCAACCCCATGCTGAA 0.498000 97 13 1.40862e-40 2.73438e-40 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179451449 179451449 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179451449A>G ENST00000589042.1 - 308 64403 c.64179T>C c.(64177-64179)gaT>gaC p.D21393D TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.D19752D|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.D12453D|TTN_ENST00000460472.2_Silent_p.D12328D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.D18825D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.D12520D|TTN-AS1_ENST00000590743.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 19752 Ig-like 113. 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) TAGCACCTCCATCACGTAGGG 0.478000 48 62 0 0 0.013114 0 0 PCDHB15 56121 broad.mit.edu 37 5 140627303 140627303 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:140627303G>C ENST00000231173.3 + 1 2157 c.2157G>C c.(2155-2157)gcG>gcC p.A719A NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 719 A -> V (in a breast cancer sample; somatic mutation). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAGCAGGGCGGCCTCAGTGG 0.647000 116 48 0 0 0.003610 0 0 SGK3 23678 broad.mit.edu 37 8 67755688 67755688 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:67755688A>G ENST00000396596.1 + 14 1194 c.978_splice c.e14-1 p.Y327_splice SGK3_ENST00000521435.1_3'UTR|C8orf44-SGK3_ENST00000519289.1_Splice_Site_p.Y327_splice|SGK3_ENST00000520976.1_Intron|SGK3_ENST00000345714.4_Splice_Site_p.Y327_splice|SGK3_ENST00000522398.1_Splice_Site_p.Y327_splice|SGK3_ENST00000521198.2_Splice_Site_p.Y327_splice NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 327 Protein kinase. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTTCTATAGTATCTTGCACCT 0.313000 4 66 0 0 0.009096 0 0 POU6F2 11281 broad.mit.edu 37 7 39379546 39379546 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:39379546C>A ENST00000518318.2 + 5 859 c.817C>A c.(817-819)Ccg>Acg p.P273T POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265T|POU6F2_ENST00000403058.1_Missense_Mutation_p.P273T P78424 PO6F2_HUMAN POU class 6 homeobox 2 273 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 ctccagccccCCGCAGAAACC 0.622000 40 40 6.5261e-18 1.06282e-17 0.008740 1 0 MARCH5 54708 broad.mit.edu 37 10 94100552 94100552 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:94100552G>T ENST00000358935.2 + 3 693 c.361G>T c.(361-363)Gtg>Ttg p.V121L MARCH5_ENST00000467521.2_3'UTR NM_017824.4 NP_060294.1 Q9NX47 MARH5_HUMAN membrane-associated ring finger (C3HC4) 5 121 cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane GTPase binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 AGCAGTGACAGTGATGCAGGT 0.358000 44 29 1.89013e-27 3.45513e-27 0.003610 1 0 UNC13C 440279 broad.mit.edu 37 15 54305511 54305511 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:54305511C>A ENST00000545554.1 + 1 411 c.411C>A c.(409-411)agC>agA p.S137R UNC13C_ENST00000537900.1_Missense_Mutation_p.S137R|UNC13C_ENST00000260323.11_Missense_Mutation_p.S137R Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 137 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) TAAGGAGTAGCACAGAAAACC 0.458000 7 26 8.12818e-05 8.99624e-05 0.001984 1 0 CBX2 84733 broad.mit.edu 37 17 77757746 77757746 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:77757746C>T ENST00000310942.4 + 5 608 c.504C>T c.(502-504)ccC>ccT p.P168P NM_005189.2 NP_005180.1 Q14781 CBX2_HUMAN chromobox homolog 2 168 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GACGAAAGCCCCTGCCCCCAG 0.677000 14 35 0 0 0.003163 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70744686 70744686 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:70744686C>A ENST00000260126.3 - 2 929 c.223G>T c.(223-225)Ggc>Tgc p.G75C SLCO5A1_ENST00000524945.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.G75C|SLCO5A1_ENST00000528658.1_5'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 75 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) GGGTTCGGGCCTTGCTTCAAC 0.652000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 69 6.40141e-05 7.11016e-05 0.010729 1 0 OR5T1 390155 broad.mit.edu 37 11 56043464 56043464 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:56043464G>T ENST00000313033.2 + 1 436 c.350G>T c.(349-351)tGt>tTt p.C117F NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) TTTCTTGCTTGTACTTTTGGA 0.403000 78 62 2.84431e-33 5.37973e-33 0.003610 1 0 STAT1 6772 broad.mit.edu 37 2 191843668 191843668 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:191843668G>A ENST00000361099.3 - 21 2174 c.1787C>T c.(1786-1788)cCg>cTg p.P596L STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.P596L|STAT1_ENST00000392323.2_Missense_Mutation_p.P598L|STAT1_ENST00000409465.1_Missense_Mutation_p.P596L NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 596 SH2. activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GAAGGTCCCCGGCTGCTGGTC 0.582000 13 22 0 0 0.001368 0 0 USP13 8975 broad.mit.edu 37 3 179426668 179426668 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:179426668G>T ENST00000263966.3 + 6 1199 c.728G>T c.(727-729)gGg>gTg p.G243V USP13_ENST00000496897.1_Missense_Mutation_p.G178V|USP13_ENST00000482333.1_3'UTR NM_003940.2 NP_003931.2 Q92995 UBP13_HUMAN ubiquitin specific peptidase 13 (isopeptidase T-3) 243 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 46 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GGGGGCAACGGGCATGCGCTG 0.557000 31 59 3.99451e-17 6.37292e-17 0.009535 1 0 GPR158 57512 broad.mit.edu 37 10 25887846 25887846 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:25887846G>C ENST00000376351.3 + 11 3650 c.3291G>C c.(3289-3291)gaG>gaC p.E1097D GPR158_ENST00000490549.1_3'UTR NM_020752.2 NP_065803.2 Q5T848 GP158_HUMAN G protein-coupled receptor 158 1097 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 TTCTCCCAGAGAGGGCAAAAG 0.512000 19 61 0 0 0.006122 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57873156 57873156 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:57873156C>T ENST00000393797.2 - 5 439 c.247G>A c.(247-249)Ggg>Agg p.G83R ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G12R|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G91R|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G12R|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G12R Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 12 SH3. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CCTAGGATCCCCCAGGAACTT 0.597000 23 40 0 0 0.003330 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136544 40136544 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:40136544C>A ENST00000278198.2 - 2 3262 c.1299G>T c.(1297-1299)ggG>ggT p.G433G LRRC4C_ENST00000527150.1_Silent_p.G433G|LRRC4C_ENST00000530763.1_Silent_p.G433G|LRRC4C_ENST00000528697.1_Silent_p.G433G Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 433 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CAGTAGTATTCCCAACGGAAT 0.443000 27 119 4.22769e-11 5.71902e-11 0.006320 1 0 KIAA1324 57535 broad.mit.edu 37 1 109737089 109737089 + Missense_Mutation SNP C C G rs147403321 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:109737089C>G ENST00000369939.3 + 15 2177 c.1994C>G c.(1993-1995)cCg>cGg p.P665R KIAA1324_ENST00000529753.1_Missense_Mutation_p.P578R|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 665 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CGCAACACTCCGACCAGGACT 0.557000 32 11 0 0 0.003271 0 0 ZFP57 346171 broad.mit.edu 37 6 29644687 29644687 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:29644687C>A ENST00000376883.1 - 3 445 c.34G>T c.(34-36)Gat>Tat p.D12Y ZFP57_ENST00000376881.3_Missense_Mutation_p.D12Y|ZFP57_ENST00000488757.1_Missense_Mutation_p.D32Y Q9NU63 ZFP57_HUMAN ZFP57 zinc finger protein 0 DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CTCCAGCAATCTCTCTTCATG 0.547000 74 13 4.14589e-37 7.94947e-37 0.003610 1 0 RNF152 220441 broad.mit.edu 37 18 59483374 59483374 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:59483374T>A ENST00000312828.3 - 2 1422 c.323A>T c.(322-324)aAg>aTg p.K108M NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 108 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) CGCACGCTCCTTGGAGATGGG 0.627000 36 28 0 0 0.003271 0 0 CCER1 196477 broad.mit.edu 37 12 91348150 91348150 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:91348150A>G ENST00000358859.2 - 1 803 c.370T>C c.(370-372)Tgc>Cgc p.C124R CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 CCGCTCCAGCAGGAGCAGCAG 0.682000 15 25 0 0 0.004007 0 0 ATAD2 29028 broad.mit.edu 37 8 124361643 124361643 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:124361643T>C ENST00000287394.5 - 14 1795 c.1688A>G c.(1687-1689)gAc>gGc p.D563G ATAD2_ENST00000521903.1_5'UTR NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 563 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCCTCTGCTGTCCAATCCATC 0.388000 18 113 0 0 0.010504 0 0 COL5A2 1290 broad.mit.edu 37 2 189975122 189975122 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:189975122T>A ENST00000374866.3 - 2 425 c.151A>T c.(151-153)Agg>Tgg p.R51W NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 51 VWFC. 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) CAAATGTCCCTGTTTAAGTAC 0.418000 18 30 0 0 0.012319 0 0 OR6B2 389090 broad.mit.edu 37 2 240969769 240969769 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:240969769C>A ENST00000402971.2 - 1 137 c.78G>T c.(76-78)ctG>ctT p.L26L NM_001005853.1 NP_001005853.1 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, member 2 26 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1) 15 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) GGAGGAAGAGCAGGTACTGCA 0.607000 27 72 3.65163e-15 5.57752e-15 0.006320 1 0 IKZF5 64376 broad.mit.edu 37 10 124753978 124753978 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:124753978C>G ENST00000368886.5 - 5 898 c.578G>C c.(577-579)aGa>aCa p.R193T PSTK_ENST00000497219.1_Intron NM_001271840.1 NP_001258769.1 Q9H5V7 IKZF5_HUMAN IKAROS family zinc finger 5 (Pegasus) 193 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|lung(3)|prostate(1) 6 all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222) Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754) TAGTGCTCTTCTGCTATAGCC 0.413000 31 88 0 0 0.002836 0 0 CADM3 57863 broad.mit.edu 37 1 159166236 159166236 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:159166236C>A ENST00000368125.4 + 6 931 c.774C>A c.(772-774)ggC>ggA p.G258G CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.G292G NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 258 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGGGTCGCGGCAATCCAGTGT 0.507000 OREG0013913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 6 3.86212e-05 4.32419e-05 0.008291 1 0 BCL9 607 broad.mit.edu 37 1 147090787 147090787 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:147090787C>T ENST00000234739.3 + 8 1566 c.826C>T c.(826-828)Cgg>Tgg p.R276W NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 276 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) TCCCCTGGACCGGGAGAGTCC 0.592000 T """IGH@, IGL@""" B-ALL 17 64 0 0 0.004990 0 0 GNPAT 8443 broad.mit.edu 37 1 231406610 231406610 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:231406610G>C ENST00000366647.4 + 10 1555 c.1386G>C c.(1384-1386)tcG>tcC p.S462S GNPAT_ENST00000366646.3_Silent_p.S401S NM_014236.3 NP_055051.1 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 462 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 23 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) CCGGAGACTCGGAAGTGGTCG 0.507000 47 15 0 0 0.003610 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862951 10862951 + RNA SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:10862951T>G ENST00000559480.1 + 0 247 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 TGCACAGAAGTTCCAGGCCAG 0.532000 94 127 0 0 0.003610 0 0 DLG2 1740 broad.mit.edu 37 11 83180381 83180381 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:83180381C>A ENST00000398309.2 - 20 2637 c.2167G>T c.(2167-2169)Ggc>Tgc p.G723C DLG2_ENST00000404783.3_Missense_Mutation_p.G201C|DLG2_ENST00000376104.2_Missense_Mutation_p.G828C|DLG2_ENST00000426717.2_Missense_Mutation_p.G187C|DLG2_ENST00000532653.1_Missense_Mutation_p.G705C|DLG2_ENST00000524982.1_Missense_Mutation_p.G719C|DLG2_ENST00000330014.6_Missense_Mutation_p.G644C|DLG2_ENST00000531015.1_Missense_Mutation_p.G690C|DLG2_ENST00000418306.2_Missense_Mutation_p.G602C|DLG2_ENST00000280241.8_Missense_Mutation_p.G762C|DLG2_ENST00000543673.1_Missense_Mutation_p.G828C|DLG2_ENST00000376106.3_Missense_Mutation_p.G187C|DLG2_ENST00000537455.1_Missense_Mutation_p.G473C NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 723 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TAGTCTCTGCCATCCACCTCG 0.368000 9 63 0.000442599 0.000475188 0.006214 1 0 SLC9A8 23315 broad.mit.edu 37 20 48491357 48491357 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:48491357T>A ENST00000417961.1 + 11 1332 c.1123_splice c.e11+1 p.C374_splice SLC9A8_ENST00000361573.2_Splice_Site_p.C358_splice|SLC9A8_ENST00000541138.1_Splice_Site_p.C58_splice|SLC9A8_ENST00000539601.1_Splice_Site_p.C139_splice NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 358 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CCTTCTTATGTGGTGAGTTCT 0.547000 24 101 0 0 0.003954 0 0 ARC 23237 broad.mit.edu 37 8 143694774 143694774 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:143694774C>T ENST00000356613.2 - 1 2059 c.859G>A c.(859-861)Gag>Aag p.E287K NM_015193.3 NP_056008.1 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated protein 287 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 13 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) AGGTCCAGCTCGCGCTGGATG 0.642000 13 68 0 0 0.001368 0 0 BATF2 116071 broad.mit.edu 37 11 64756724 64756724 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:64756724A>T ENST00000301887.4 - 3 832 c.702T>A c.(700-702)cgT>cgA p.R234R BATF2_ENST00000435842.2_Silent_p.R149R|BATF2_ENST00000527716.1_Silent_p.R210R NM_138456.3 NP_612465.3 Q8N1L9 BATF2_HUMAN basic leucine zipper transcription factor, ATF-like 2 234 nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|skin(1) 9 TGCTCTGCAGACGTGCAAGCC 0.637000 23 28 0 0 0.003330 0 0 SIRPB2 284759 broad.mit.edu 37 20 1458023 1458023 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:1458023T>A ENST00000381630.1 - 4 550 c.527A>T c.(526-528)cAg>cTg p.Q176L SIRPB2_ENST00000444444.1_Silent_p.A175A|SIRPB2_ENST00000359801.3_Silent_p.A273A|SIRPB2_ENST00000537284.1_Silent_p.A135A Q5JXA9 SIRB2_HUMAN signal-regulatory protein beta 2 0 Ig-like V-type 2. integral to membrane endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TGGTGAATTCTGCCTCTTTGG 0.517000 57 91 0 0 0.003610 0 0 KRT31 3881 broad.mit.edu 37 17 39551865 39551865 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:39551865G>T ENST00000251645.2 - 4 651 c.599C>A c.(598-600)aCc>aAc p.T200N NM_002277.2 NP_002268.2 Q15323 K1H1_HUMAN keratin 31 200 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 31 Breast(137;0.000496) GCAGCGCAGGGTATTGACCTC 0.493000 28 12 2.12542e-12 2.99469e-12 0.006320 1 0 UNC79 57578 broad.mit.edu 37 14 94008975 94008975 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:94008975C>A ENST00000553484.1 + 14 1842 c.1688C>A c.(1687-1689)aCc>aAc p.T563N UNC79_ENST00000555664.1_Missense_Mutation_p.T563N|UNC79_ENST00000393151.2_Missense_Mutation_p.T563N|UNC79_ENST00000256339.4_Missense_Mutation_p.T386N Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 563 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 TGGCTGAAGACCGTATGTGAT 0.478000 70 55 5.88917e-42 1.14674e-41 0.003610 1 0 MCC 4163 broad.mit.edu 37 5 112676326 112676326 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:112676326C>A ENST00000408903.3 - 3 932 c.517G>T c.(517-519)Gag>Tag p.E173* CTD-2201G3.1_ENST00000416046.2_RNA NM_001085377.1 NP_001078846.1 P23508 CRCM_HUMAN mutated in colorectal cancers 0 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) CCGCCATACTCGAGCAGCTTC 0.577000 13 18 7.03913e-09 8.97972e-09 0.001368 1 0 OR4N5 390437 broad.mit.edu 37 14 20612261 20612261 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:20612261T>A ENST00000333629.1 + 1 367 c.367T>A c.(367-369)Tac>Aac p.Y123N NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 123 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) CTTTGACCGCTACATCGCCAT 0.483000 43 74 0 0 0.007835 0 0 OR2W5 441932 broad.mit.edu 37 1 247654765 247654765 + RNA SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:247654765C>G ENST00000522351.1 + 0 396 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 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;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) CCACCGAGTGCGTCCTCCTGG 0.602000 26 56 0 0 0.005443 0 0 HERC1 8925 broad.mit.edu 37 15 63990931 63990931 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:63990931G>T ENST00000443617.2 - 26 4988 c.4901C>A c.(4900-4902)gCa>gAa p.A1634E RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1634 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 ACTTACTTCTGCCCTTAACTG 0.423000 3 21 0.00024832 0.000269371 0.009096 1 0 PM20D2 135293 broad.mit.edu 37 6 89868113 89868113 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:89868113A>G ENST00000275072.4 + 5 1077 c.982A>G c.(982-984)Atg>Gtg p.M328V NM_001010853.1 NP_001010853.1 Q8IYS1 P20D2_HUMAN peptidase M20 domain containing 2 328 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1) 12 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) GAAAGCCTATATGGAAAATGG 0.308000 35 7 0 0 0.004289 0 0 DDO 8528 broad.mit.edu 37 6 110714269 110714269 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:110714269G>T ENST00000368924.3 - 5 834 c.819C>A c.(817-819)tcC>tcA p.S273S DDO_ENST00000368925.1_Silent_p.S245S|DDO_ENST00000368923.3_Silent_p.S214S NM_003649.2 NP_003640.2 Q99489 OXDD_HUMAN D-aspartate oxidase 245 aspartate catabolic process peroxisome binding|D-amino-acid oxidase activity|D-aspartate oxidase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3) 24 all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327) all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046) CTGCATCCGGGGACAGATTCC 0.522000 77 30 1.45978e-39 2.82059e-39 0.003610 1 0 SPAM1 6677 broad.mit.edu 37 7 123593726 123593726 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:123593726G>T ENST00000340011.5 + 3 459 c.102G>T c.(100-102)ttG>ttT p.L34F SPAM1_ENST00000402183.2_Missense_Mutation_p.L34F|SPAM1_ENST00000439500.1_Missense_Mutation_p.L34F|SPAM1_ENST00000223028.7_Missense_Mutation_p.L34F|SPAM1_ENST00000460182.1_Missense_Mutation_p.L34F NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 34 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) CATGTTGCTTGACTCTGAATT 0.418000 7 30 5.4927e-09 7.02125e-09 0.004482 1 0 GSG1L 146395 broad.mit.edu 37 16 27818864 27818864 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:27818864C>G ENST00000380898.2 - 7 980 c.431G>C c.(430-432)aGg>aCg p.R144T GSG1L_ENST00000569166.1_Missense_Mutation_p.R144T|GSG1L_ENST00000380897.3_Missense_Mutation_p.R126T|GSG1L_ENST00000447459.2_Missense_Mutation_p.R281T|GSG1L_ENST00000395724.3_Missense_Mutation_p.R230T Q6UXU4 GSG1L_HUMAN GSG1-like 281 integral to membrane endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4) 17 GCTCCCGTCCCTCTTCTCCAT 0.483000 15 16 0 0 0.002450 0 0 BNC1 646 broad.mit.edu 37 15 83932172 83932172 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:83932172G>C ENST00000345382.2 - 4 1916 c.1831C>G c.(1831-1833)Cgt>Ggt p.R611G RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R604G NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 611 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R611C(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 ACTGATTCACGATGGCAGGGC 0.547000 48 25 0 0 0.013114 0 0 BAI1 575 broad.mit.edu 37 8 143620762 143620762 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:143620762G>T ENST00000517894.1 + 27 4588 c.3694G>T c.(3694-3696)Gcc>Tcc p.A1232S BAI1_ENST00000323289.5_Missense_Mutation_p.A1232S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1232 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CGTGGATCTGGCCTGTAGATC 0.667000 14 6 2.48551e-13 3.56616e-13 0.004990 1 0 MYOC 4653 broad.mit.edu 37 1 171621499 171621499 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:171621499G>T ENST00000037502.5 - 1 312 c.253C>A c.(253-255)Ctg>Atg p.L85M NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 85 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GTGGCCTCCAGGTCTAAGCGT 0.602000 22 50 0.00229938 0.00242712 0.002299 1 0 EYS 346007 broad.mit.edu 37 6 66205227 66205227 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:66205227C>T ENST00000503581.1 - 4 614 c.77G>A c.(76-78)cGg>cAg p.R26Q EYS_ENST00000370621.3_Missense_Mutation_p.R26Q|EYS_ENST00000342421.5_Missense_Mutation_p.R26Q|EYS_ENST00000370616.2_Missense_Mutation_p.R26Q|EYS_ENST00000370618.3_Missense_Mutation_p.R26Q|EYS_ENST00000393380.2_Missense_Mutation_p.R26Q NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 26 response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 CACCAATTGCCGTCTACATGT 0.398000 30 5 0 0 0.007291 0 0 UNC5D 137970 broad.mit.edu 37 8 35579785 35579785 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:35579785C>A ENST00000287272.2 + 8 1027 c.1007C>A c.(1006-1008)gCc>gAc p.A336D UNC5D_ENST00000404895.2_Missense_Mutation_p.A392D|UNC5D_ENST00000453357.2_Missense_Mutation_p.A387D|UNC5D_ENST00000420357.1_Missense_Mutation_p.A325D|UNC5D_ENST00000416672.1_Missense_Mutation_p.A397D Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 392 TSP type-1 2. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GCCGTCGTGGCCGTTGCAGTC 0.532000 57 96 1.08141e-31 2.024e-31 0.003610 1 0 LMBRD1 55788 broad.mit.edu 37 6 70462161 70462161 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:70462161C>G ENST00000370577.3 - 4 624 c.395G>C c.(394-396)aGt>aCt p.S132T LMBRD1_ENST00000370570.1_Missense_Mutation_p.S59T NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 132 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 AGTACATTTACTAGTATCATC 0.294000 9 7 0 0 0.004482 0 0 CCDC27 148870 broad.mit.edu 37 1 3669272 3669272 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:3669272G>T ENST00000294600.2 + 1 311 c.227G>T c.(226-228)cGg>cTg p.R76L NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 76 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ATGGCCAGCCGGGACGCCCGG 0.622000 18 61 8.34094e-07 1.00476e-06 0.008871 1 0 TMEM132D 121256 broad.mit.edu 37 12 129694181 129694181 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:129694181G>T ENST00000422113.2 - 5 1653 c.1327C>A c.(1327-1329)Ctc>Atc p.L443I RP11-669N7.3_ENST00000542578.1_lincRNA NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 443 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTCCCCGTGAGGATGGCTGTG 0.602000 12 59 4.36969e-10 5.76193e-10 0.001855 1 0 MUC17 140453 broad.mit.edu 37 7 100674437 100674437 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:100674437G>C ENST00000306151.4 + 2 183 c.119G>C c.(118-120)gGg>gCg p.G40A NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 40 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GATGGAGGAGGGTGCATCTCC 0.522000 20 96 0 0 0.002299 0 0 TNNI3 7137 broad.mit.edu 37 19 55666188 55666188 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:55666188C>G ENST00000344887.5 - 6 435 c.293G>C c.(292-294)cGa>cCa p.R98P TNNI3_ENST00000588882.1_Missense_Mutation_p.R73P|CTD-2587H24.4_ENST00000587871.1_3'UTR|TNNI3_ENST00000590463.1_5'UTR NM_000363.4 NP_000354.4 P19429 TNNI3_HUMAN troponin I type 3 (cardiac) 98 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) GTGGAGCTGTCGGCACAAGTC 0.587000 23 10 0 0 0.003330 0 0 PAK7 57144 broad.mit.edu 37 20 9546657 9546657 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:9546657G>T ENST00000378429.3 - 6 1911 c.1365C>A c.(1363-1365)atC>atA p.I455I PAK7_ENST00000353224.5_Silent_p.I455I|PAK7_ENST00000378423.1_Silent_p.I455I NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 455 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGCCTTCCCCGATTTTGATAA 0.562000 63 98 1.85257e-25 3.32826e-25 0.003610 1 0 COL3A1 1281 broad.mit.edu 37 2 189850439 189850439 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:189850439C>T ENST00000304636.3 + 4 552 c.382C>T c.(382-384)Caa>Taa p.Q128* COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q128* NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 128 axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TATTCCAGGACAACCAGGGTC 0.443000 16 29 0 0 0.007413 0 0 DDHD1 80821 broad.mit.edu 37 14 53525260 53525260 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:53525260C>A ENST00000357758.3 - 9 2110 c.1927G>T c.(1927-1929)Gac>Tac p.D643Y DDHD1_ENST00000395606.1_Missense_Mutation_p.D650Y|DDHD1_ENST00000323669.5_Missense_Mutation_p.D643Y NM_030637.2 NP_085140.2 Q8NEL9 DDHD1_HUMAN DDHD domain containing 1 643 DDHD. lipid catabolic process cytoplasm hydrolase activity|metal ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1) 25 Breast(41;0.037) AAAATATGGTCTTGACTTCCA 0.393000 14 27 1.49906e-05 1.71204e-05 0.002450 1 0 LRP1B 53353 broad.mit.edu 37 2 141819818 141819818 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:141819818C>G ENST00000389484.3 - 8 2009 c.1038G>C c.(1036-1038)ggG>ggC p.G346G NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 346 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) TGGCGACATTCCCGTAGTCAG 0.448000 TSP Lung(27;0.18) 10 51 0 0 0.008291 0 0 PAX5 5079 broad.mit.edu 37 9 36882061 36882061 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:36882061G>T ENST00000358127.4 - 8 1026 c.952C>A c.(952-954)Cac>Aac p.H318N PAX5_ENST00000414447.1_Missense_Mutation_p.H275N|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.H318N|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.H210N|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.H275N NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 318 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGGGGGACGTGTGGAGGGTAC 0.637000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 9 20 2.27111e-07 2.7894e-07 0.001368 1 0 ANO7 50636 broad.mit.edu 37 2 242144350 242144350 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:242144350G>T ENST00000274979.8 + 10 1225 c.1122G>T c.(1120-1122)ctG>ctT p.L374L ANO7_ENST00000402430.3_Silent_p.L373L NM_001001891.3 NP_001001891.2 Q6IWH7 ANO7_HUMAN anoctamin 7 374 cell junction|chloride channel complex|cytosol chloride channel activity NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2) 32 GCTGCTTCCTGGTGTTCTCAG 0.642000 22 58 4.26978e-12 5.93603e-12 0.003330 1 0 ST18 9705 broad.mit.edu 37 8 53085144 53085144 + Splice_Site SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:53085144C>G ENST00000276480.7 - 10 961 c.e10-1 NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 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) ATGATTTCCTCTATGGAAAAA 0.308000 23 9 0 0 0.002780 0 0 SAG 6295 broad.mit.edu 37 2 234224723 234224723 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:234224723G>T ENST00000409110.1 + 3 308 c.78G>T c.(76-78)gtG>gtT p.V26V NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 26 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) TCTTGCAGGTGACCATCTACC 0.507000 3 6 2.56e-06 3.02853e-06 0.009096 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686543 125686543 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:125686543C>A ENST00000371126.1 - 1 291 c.49G>T c.(49-51)Gag>Tag p.E17* NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 17 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCGTCCGCCTCGACCGCGGGC 0.726000 37 12 2.6416e-12 3.70948e-12 0.006230 1 0 RASSF2 9770 broad.mit.edu 37 20 4768349 4768349 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:4768349T>G ENST00000379400.3 - 10 938 c.743A>C c.(742-744)cAg>cCg p.Q248P RASSF2_ENST00000379376.2_Missense_Mutation_p.Q248P|RASSF2_ENST00000478553.1_Splice_Site NM_014737.2 NP_055552.1 P50749 RASF2_HUMAN Ras association (RalGDS/AF-6) domain family member 2 248 Ras-associating. cell cycle|signal transduction nucleus protein binding endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2) 34 ACATGGGCCCTGGAGGATTCG 0.552000 29 32 0 0 0.006320 0 0 VWA3A 146177 broad.mit.edu 37 16 22144393 22144393 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:22144393G>A ENST00000389398.5 + 20 2141 c.2045G>A c.(2044-2046)cGc>cAc p.R682H VWA3A_ENST00000389397.4_5'UTR NM_173615.3 NP_775886.3 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 682 VWFA 1. extracellular region p.R682H(2) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1) 7 GBM - Glioblastoma multiforme(48;0.0439) GCAGGTGGCCGCTTCCACTGG 0.582000 5 22 0 0 0.000602 0 0 OR51I2 390064 broad.mit.edu 37 11 5474973 5474973 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:5474973C>T ENST00000341449.2 + 1 336 c.255C>T c.(253-255)ttC>ttT p.F85F AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron NM_001004754.2 NP_001004754.1 Q9H344 O51I2_HUMAN olfactory receptor, family 51, subfamily I, member 2 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCGAACCTTCTGCCTCAATG 0.488000 23 52 0 0 0.003954 0 0 C6 729 broad.mit.edu 37 5 41181494 41181494 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:41181494G>A ENST00000263413.3 - 7 1158 c.894C>T c.(892-894)gcC>gcT p.A298A C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.A298A NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 298 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding p.A298A(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) CTTGTTTGAAGGCAGAATTAT 0.353000 14 96 0 0 0.003163 0 0 KCNH7 90134 broad.mit.edu 37 2 163256746 163256746 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:163256746C>A ENST00000332142.5 - 10 2459 c.2360G>T c.(2359-2361)aGa>aTa p.R787I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 787 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) AATGGAGCCTCTGGATAAGAA 0.443000 21 54 1.00905e-13 1.47476e-13 0.008871 1 0 AKAP1 8165 broad.mit.edu 37 17 55183864 55183864 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:55183864G>C ENST00000337714.3 + 2 1272 c.1039G>C c.(1039-1041)Gct>Cct p.A347P AKAP1_ENST00000572557.1_Missense_Mutation_p.A347P|AKAP1_ENST00000571629.1_Missense_Mutation_p.A347P|AKAP1_ENST00000539273.1_Missense_Mutation_p.A347P|AKAP1_ENST00000314126.3_Missense_Mutation_p.A347P NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 347 PKA-RII subunit binding domain. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) GATTAAGCGGGCTGCCTTCCA 0.517000 44 42 0 0 0.003610 0 0 TRIM27 5987 broad.mit.edu 37 6 28872321 28872321 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:28872321C>A ENST00000377199.3 - 8 1424 c.1068G>T c.(1066-1068)ctG>ctT p.L356L TRIM27_ENST00000377194.3_Intron NM_006510.4 NP_006501.1 P14373 TRI27_HUMAN tripartite motif containing 27 356 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 CACAGGGAAACAGATTGAACC 0.542000 T RET papillary thyroid 37 4 2.42023e-17 3.87608e-17 0.003271 1 0 UBAP2L 9898 broad.mit.edu 37 1 154209593 154209593 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:154209593T>G ENST00000428931.1 + 8 851 c.684T>G c.(682-684)ttT>ttG p.F228L UBAP2L_ENST00000271877.7_Missense_Mutation_p.F239L|UBAP2L_ENST00000343815.6_Missense_Mutation_p.F228L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.F228L NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 228 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CTGGCCACTTTGAACCAGATG 0.403000 27 55 0 0 0.005443 0 0 IQUB 154865 broad.mit.edu 37 7 123143031 123143031 + Silent SNP G G A rs143722337 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:123143031G>A ENST00000466202.1 - 5 1410 c.834C>T c.(832-834)ccC>ccT p.P278P IQUB_ENST00000488987.1_5'UTR|IQUB_ENST00000324698.6_Silent_p.P278P|IQUB_ENST00000434450.1_Silent_p.P278P Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 278 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGAGTCTTTCGGGAATCCTTT 0.353000 14 54 0 0 0.001855 0 0 IFIT5 24138 broad.mit.edu 37 10 91177355 91177355 + Nonsense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:91177355C>G ENST00000371795.4 + 2 612 c.399C>G c.(397-399)taC>taG p.Y133* IFIT5_ENST00000416601.1_Nonsense_Mutation_p.Y133* NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 133 binding endometrium(1)|large_intestine(4)|lung(4) 9 CTTCTAACTACAAGTTGGAGT 0.433000 13 29 0 0 0.001368 0 0 CD276 80381 broad.mit.edu 37 15 73996311 73996311 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:73996311A>T ENST00000318443.5 + 5 1347 c.1045A>T c.(1045-1047)Agc>Tgc p.S349C CD276_ENST00000561213.1_Missense_Mutation_p.S349C|CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000537340.2_Missense_Mutation_p.S203C NM_001024736.1 NP_001019907.1 Q5ZPR3 CD276_HUMAN CD276 molecule 349 Ig-like V-type 2. cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 GGATTTCGGCAGCGCTGCCGT 0.667000 8 15 0 0 0.004482 0 0 CD300A 11314 broad.mit.edu 37 17 72462876 72462876 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:72462876G>A ENST00000360141.3 + 1 322 c.34G>A c.(34-36)Gtc>Atc p.V12I CD300A_ENST00000310828.5_Missense_Mutation_p.V12I|CD300A_ENST00000361933.3_Missense_Mutation_p.V12I|CD300A_ENST00000392625.3_Missense_Mutation_p.V12I NM_001256841.1|NM_007261.3 NP_001243770.1|NP_009192.2 Q9UGN4 CLM8_HUMAN CD300a molecule 12 cell adhesion integral to membrane|plasma membrane receptor activity breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1) 16 GCTTCTCTGGGTCCCAGGTGA 0.662000 3 0 0 0 0.009096 0 0 ANKRD13B 124930 broad.mit.edu 37 17 27935961 27935961 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:27935961G>C ENST00000394859.3 + 5 668 c.514G>C c.(514-516)Gac>Cac p.D172H RP11-68I3.2_ENST00000581474.1_RNA NM_152345.4 NP_689558.4 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 172 cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 16 CCTGGGCTTTGACCACATGAC 0.617000 14 29 0 0 0.004007 0 0 LRRK2 120892 broad.mit.edu 37 12 40672061 40672061 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:40672061C>T ENST00000298910.7 + 18 2297 c.2239C>T c.(2239-2241)Cag>Tag p.Q747* LRRK2_ENST00000343742.2_Nonsense_Mutation_p.Q747* NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 747 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TTTAATTTGTCAGGTAAATAT 0.378000 107 10 0 0 0.003610 0 0 LAMB4 22798 broad.mit.edu 37 7 107706881 107706881 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:107706881G>T ENST00000388781.3 - 20 2694 c.2611C>A c.(2611-2613)Ctt>Att p.L871I LAMB4_ENST00000388780.3_Missense_Mutation_p.L871I|LAMB4_ENST00000205386.4_Missense_Mutation_p.L871I NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 871 Laminin EGF-like 8. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GGATCACAAAGTTCAGCAAAC 0.488000 7 54 5.18039e-06 6.05425e-06 0.003080 1 0 KCNH1 3756 broad.mit.edu 37 1 211192569 211192569 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:211192569G>T ENST00000367007.4 - 6 757 c.588C>A c.(586-588)ccC>ccA p.P196P KCNH1_ENST00000271751.4_Silent_p.P196P NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 196 myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GCTTGTACTGGGGAAGGATGT 0.433000 21 14 2.37509e-13 3.41948e-13 0.010504 1 0 RTP2 344892 broad.mit.edu 37 3 187416724 187416724 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:187416724G>T ENST00000358241.1 - 2 668 c.240C>A c.(238-240)cgC>cgA p.R80R NM_001004312.2 NP_001004312.2 Q5QGT7 RTP2_HUMAN receptor (chemosensory) transporter protein 2 80 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding large_intestine(3)|lung(14)|skin(1) 18 all_cancers(143;4.06e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0515) CCCGCTGGGCGCGGTCCAGGA 0.657000 15 17 0.000219431 0.000239484 0.002450 1 0 MYH15 22989 broad.mit.edu 37 3 108182078 108182078 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:108182078T>C ENST00000273353.3 - 17 1860 c.1804A>G c.(1804-1806)Atc>Gtc p.I602V NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 602 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CAACCACTGATATTATAAGGT 0.373000 51 99 0 0 0.003610 0 0 PLXNA4 91584 broad.mit.edu 37 7 131865396 131865396 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:131865396A>T ENST00000359827.3 - 19 4550 c.3588T>A c.(3586-3588)gaT>gaA p.D1196E PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1196E Q9HCM2 PLXA4_HUMAN plexin A4 1196 IPT/TIG 4. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCAGCTGGACATCTGACACGG 0.607000 6 32 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179434970 179434970 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179434970C>A ENST00000589042.1 - 326 76113 c.75889G>T c.(75889-75891)Gtt>Ttt p.V25297F TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V23656F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16357F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V16232F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22729F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V16424F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 23656 Ig-like 124. 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) TTCTTGGCAACTACTGGCTCA 0.418000 13 53 5.50884e-06 6.39637e-06 0.001368 1 0 PRDM10 56980 broad.mit.edu 37 11 129814700 129814700 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:129814700C>G ENST00000358825.5 - 6 959 c.728G>C c.(727-729)gGc>gCc p.G243A PRDM10_ENST00000423662.2_Missense_Mutation_p.G157A|PRDM10_ENST00000304538.6_Missense_Mutation_p.G157A|PRDM10_ENST00000528746.1_Missense_Mutation_p.G217A|PRDM10_ENST00000526082.1_Missense_Mutation_p.G157A|PRDM10_ENST00000360871.3_Missense_Mutation_p.G243A NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 243 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CAGCTCCGAGCCCCTGACGAG 0.552000 23 72 0 0 0.002299 0 0 ZNF728 388523 broad.mit.edu 37 19 23159821 23159821 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:23159821A>T ENST00000594710.1 - 4 463 c.318T>A c.(316-318)tgT>tgA p.C106* NM_001267716.1 NP_001254645.1 zinc finger protein 728 TCTCATGTCCACATTTTTCAT 0.348000 20 20 0 0 0.007413 0 0 BDKRB2 624 broad.mit.edu 37 14 96707718 96707718 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:96707718C>T ENST00000542454.2 + 3 4060 c.972C>T c.(970-972)tgC>tgT p.C324C BDKRB2_ENST00000554311.1_Silent_p.C351C|BDKRB2_ENST00000306005.3_Silent_p.C351C|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.C324C P30411 BKRB2_HUMAN bradykinin receptor B2 351 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) AGGGAGTGTGCCAGAAAGGGG 0.572000 3 33 0 0 0.001168 0 0 LDHAL6B 92483 broad.mit.edu 37 15 59499602 59499602 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:59499602C>A ENST00000307144.4 + 1 561 c.463C>A c.(463-465)Cgc>Agc p.R155S MYO1E_ENST00000288235.4_Intron NM_033195.2 NP_149972.1 Q9BYZ2 LDH6B_HUMAN lactate dehydrogenase A-like 6B 155 glycolysis cytoplasm L-lactate dehydrogenase activity|protein binding endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1) 10 NADH(DB00157) GGGAGAAACGCGCCTTAATTT 0.418000 61 39 2.30037e-20 3.87203e-20 0.003610 1 0 SYT16 83851 broad.mit.edu 37 14 62547902 62547902 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:62547902G>A ENST00000430451.2 + 4 1541 c.1344G>A c.(1342-1344)atG>atA p.M448I NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 448 C2 1. 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) GAGAGAGAATGATGGGAGAGA 0.532000 7 20 0 0 0.001984 0 0 LRP1B 53353 broad.mit.edu 37 2 142004822 142004822 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:142004822C>G ENST00000389484.3 - 5 1536 c.565G>C c.(565-567)Gac>Cac p.D189H NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 189 EGF-like 2; calcium-binding (Potential). 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) GATCTGTTGTCTGGCTGCATT 0.383000 TSP Lung(27;0.18) 13 53 0 0 0.001368 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28296872 28296872 + Missense_Mutation SNP C C A rs147165669 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:28296872C>A ENST00000284987.5 - 8 2414 c.2293G>T c.(2293-2295)Gcc>Tcc p.A765S AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 765 Spacer. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TGGTCTTTGGCTTTGAACTGT 0.443000 59 18 4.33383e-22 7.48571e-22 0.003610 1 0 GATA4 2626 broad.mit.edu 37 8 11607676 11607676 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:11607676G>C ENST00000335135.4 + 4 1398 c.840G>C c.(838-840)acG>acC p.T280T GATA4_ENST00000528712.1_Silent_p.T74T|GATA4_ENST00000532059.1_Silent_p.T281T NM_002052.3 NP_002043.2 P43694 GATA4_HUMAN GATA binding protein 4 280 Poly-Thr. atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10) 13 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CCACCACCACGCTGTGGCGCC 0.622000 24 10 0 0 0.004656 0 0 ZNF217 7764 broad.mit.edu 37 20 52193228 52193228 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:52193228C>A ENST00000371471.2 - 4 2500 c.2075G>T c.(2074-2076)gGg>gTg p.G692V ZNF217_ENST00000302342.3_Missense_Mutation_p.G692V O75362 ZN217_HUMAN zinc finger protein 217 692 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GTGAAGAGCCCCCACGGATAA 0.423000 74 130 6.5469e-37 1.2515e-36 0.003610 1 0 KIAA1755 85449 broad.mit.edu 37 20 36869448 36869448 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:36869448G>T ENST00000279024.4 - 3 1356 c.1085C>A c.(1084-1086)aCc>aAc p.T362N NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 362 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TGAGTTGTGGGTGGGTGCTTT 0.542000 96 91 1.15966e-41 2.25459e-41 0.003610 1 0 UMOD 7369 broad.mit.edu 37 16 20348729 20348729 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:20348729C>A ENST00000396134.2 - 9 1846 c.1723G>T c.(1723-1725)Gag>Tag p.E575* UMOD_ENST00000396138.4_Nonsense_Mutation_p.E591*|UMOD_ENST00000570689.1_Nonsense_Mutation_p.E542*|UMOD_ENST00000302509.4_Nonsense_Mutation_p.E542*|UMOD_ENST00000396142.2_Nonsense_Mutation_p.E542*|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Nonsense_Mutation_p.E575* NM_001278614.1 NP_001265543.1 P07911 UROM_HUMAN uromodulin 542 ZP. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 TGGGAGGACTCCCCATTCTCC 0.473000 18 40 1.56452e-12 2.21185e-12 0.007413 1 0 CSMD3 114788 broad.mit.edu 37 8 113347650 113347650 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:113347650G>T ENST00000297405.5 - 45 7317 c.7073C>A c.(7072-7074)gCt>gAt p.A2358D CSMD3_ENST00000343508.3_Missense_Mutation_p.A2318D|CSMD3_ENST00000455883.2_Missense_Mutation_p.A2254D|CSMD3_ENST00000352409.3_Missense_Mutation_p.A2288D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 2358 CUB 13. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGATTCCAAAGCGGTATTGCC 0.418000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 65 3.07112e-06 3.61274e-06 0.010729 1 0 PHLDB3 653583 broad.mit.edu 37 19 43979578 43979578 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:43979578T>C ENST00000292140.5 - 16 2267 c.1907A>G c.(1906-1908)gAa>gGa p.E636G NM_198850.3 NP_942147.3 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, member 3 636 breast(1)|central_nervous_system(1)|lung(5) 7 Prostate(69;0.0153) GGCGTGGTTTTCGTCAGCGGC 0.672000 6 17 0 0 0.003080 0 0 PDCD6IP 10015 broad.mit.edu 37 3 33870350 33870350 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:33870350G>T ENST00000307296.3 + 7 1100 c.723G>T c.(721-723)gtG>gtT p.V241V PDCD6IP_ENST00000457054.2_Silent_p.V246V Q8WUM4 PDC6I_HUMAN programmed cell death 6 interacting protein 241 BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9. apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport cytosol|melanosome|microtubule organizing center calcium-dependent protein binding central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1) 23 TCCAGGAGGTGTTCCCTGTCT 0.448000 26 16 2.44723e-14 3.65337e-14 0.004656 1 0 ADCY2 108 broad.mit.edu 37 5 7784549 7784549 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:7784549T>C ENST00000338316.4 + 19 2545 c.2456T>C c.(2455-2457)gTt>gCt p.V819A ADCY2_ENST00000537121.1_Missense_Mutation_p.V639A NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 819 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 ACACTGCTTGTTCTGGGTAGA 0.378000 51 88 0 0 0.003610 0 0 CPS1 1373 broad.mit.edu 37 2 211502454 211502454 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:211502454A>T ENST00000233072.5 + 22 2912 c.2716A>T c.(2716-2718)Agg>Tgg p.R906W CPS1_ENST00000430249.2_Missense_Mutation_p.R912W|CPS1_ENST00000451903.2_Missense_Mutation_p.R455W|CPS1_ENST00000497121.1_3'UTR NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 906 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) AACCCTGAAAAGGGCAAAGGA 0.413000 14 29 0 0 0.003163 0 0 CDK4 1019 broad.mit.edu 37 12 58145434 58145434 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:58145434C>A ENST00000257904.6 - 2 432 c.67G>T c.(67-69)Gcc>Tcc p.A23S CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000312990.6_Missense_Mutation_p.A23S NM_000075.3 NP_000066.1 P11802 CDK4_HUMAN cyclin-dependent kinase 4 23 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GGATCACGGGCCTTGTACACT 0.552000 Mis melanoma Hereditary Melanoma 32 50 6.50621e-10 8.54324e-10 0.002836 1 0 TMPRSS6 164656 broad.mit.edu 37 22 37485704 37485704 + Silent SNP G G T rs148065950 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:37485704G>T ENST00000381792.2 - 7 890 c.750C>A c.(748-750)ctC>ctA p.L250L TMPRSS6_ENST00000406725.1_Silent_p.L250L|TMPRSS6_ENST00000346753.3_Silent_p.L259L|TMPRSS6_ENST00000442782.2_Silent_p.L259L|TMPRSS6_ENST00000406856.1_Silent_p.L250L Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 259 CUB 1. angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 ACTCCAGCCGGAGTTTGAGCA 0.677000 15 4 9.16793e-09 1.1648e-08 0.004990 1 0 BAG6 7917 broad.mit.edu 37 6 31617043 31617043 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:31617043C>A ENST00000404765.2 - 4 645 c.356G>T c.(355-357)gGg>gTg p.G119V BAG6_ENST00000211379.5_Missense_Mutation_p.G119V|BAG6_ENST00000375964.6_Missense_Mutation_p.G119V|BAG6_ENST00000375976.4_Missense_Mutation_p.G119V|BAG6_ENST00000439687.2_Missense_Mutation_p.G119V|BAG6_ENST00000362049.6_Missense_Mutation_p.G119V P46379 BAG6_HUMAN BCL2-associated athanogene 6 119 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GGCCCCAGGCCCCCGAGTACC 0.587000 99 12 2.35538e-29 4.34361e-29 0.003610 1 0 PROSC 11212 broad.mit.edu 37 8 37632908 37632908 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:37632908A>T ENST00000328195.3 + 6 573 c.506A>T c.(505-507)aAc>aTc p.N169I NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 169 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) GAGCACATAAACGCCAAGTGT 0.478000 95 30 0 0 0.003610 0 0 TRAT1 50852 broad.mit.edu 37 3 108572490 108572490 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:108572490C>A ENST00000295756.6 + 6 557 c.327C>A c.(325-327)tgC>tgA p.C109* TRAT1_ENST00000426646.1_Nonsense_Mutation_p.C72* NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 109 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 CACAGATGTGCTACGCCTCAC 0.413000 18 83 1.00905e-13 1.47476e-13 0.008871 1 0 XIST 7503 broad.mit.edu 37 X 73071574 73071574 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:73071574C>A ENST00000429829.1 - 0 1014 NR_001564.2 TCTGCCTGACCTGCTATCATC 0.473000 31 9 3.80469e-20 6.36994e-20 0.009535 1 0 PCDHA1 56147 broad.mit.edu 37 5 140166961 140166961 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:140166961C>T ENST00000504120.2 + 1 1086 c.1086C>T c.(1084-1086)gaC>gaT p.D362D PCDHA1_ENST00000394633.3_Silent_p.D362D|PCDHA1_ENST00000378133.3_Silent_p.D362D NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGAGGACGCTCCACTCA 0.517000 31 9 0 0 0.008361 0 0 MEGF10 84466 broad.mit.edu 37 5 126781278 126781278 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:126781278C>A ENST00000274473.6 + 21 2888 c.2621C>A c.(2620-2622)gCa>gAa p.A874E MEGF10_ENST00000503335.2_Missense_Mutation_p.A874E|MEGF10_ENST00000510828.1_Intron NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 874 cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) TTCCTACTGGCATTGTTCATT 0.473000 27 12 3.28513e-13 4.68663e-13 0.003954 1 0 FAM3C 10447 broad.mit.edu 37 7 120991232 120991232 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:120991232C>A ENST00000359943.3 - 9 772 c.559G>T c.(559-561)Ggg>Tgg p.G187W NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 187 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) ATGCCCTTCCCACCACAGAAG 0.418000 16 23 5.03518e-11 6.78938e-11 0.007413 1 0 IL16 3603 broad.mit.edu 37 15 81592382 81592382 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:81592382C>A ENST00000394660.2 + 14 3075 c.2715C>A c.(2713-2715)tcC>tcA p.S905S IL16_ENST00000302987.4_Silent_p.S905S|IL16_ENST00000394652.2_Silent_p.S204S|IL16_ENST00000560230.1_3'UTR NM_001172128.1|NM_172217.3 NP_001165599.1|NP_757366.2 Q14005 IL16_HUMAN interleukin 16 905 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1) 57 AAGTACTGTCCTCGGGGTCCC 0.642000 31 54 7.01153e-11 9.4037e-11 0.007291 1 0 TTN 7273 broad.mit.edu 37 2 179606386 179606386 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179606386C>A ENST00000589042.1 - 48 11798 c.11574G>T c.(11572-11574)gtG>gtT p.V3858V TTN_ENST00000591111.1_Silent_p.V3541V|TTN_ENST00000359218.5_Silent_p.V3620V|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Silent_p.V3495V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.V3687V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3541 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) GGGTTAATAGCACTCCATTAA 0.413000 13 85 4.93089e-13 7.02652e-13 0.002450 1 0 OR4K2 390431 broad.mit.edu 37 14 20344870 20344870 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:20344870C>A ENST00000298642.2 + 1 480 c.444C>A c.(442-444)tcC>tcA p.S148S NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 148 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) TGGTGGCTTCCTGGATTATGG 0.468000 38 84 9.8876e-21 1.67329e-20 0.004878 1 0 SETBP1 26040 broad.mit.edu 37 18 42531800 42531800 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:42531800C>T ENST00000282030.5 + 4 2791 c.2495C>T c.(2494-2496)cCc>cTc p.P832L NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 832 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) CTGTCTCCACCCAGACTGATG 0.517000 Schinzel-Giedion syndrome 26 44 0 0 0.003954 0 0 NOV 4856 broad.mit.edu 37 8 120430298 120430298 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:120430298C>A ENST00000259526.3 + 3 538 c.310_splice c.e3-1 p.A104_splice NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 104 IGFBP N-terminal. regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) AATATTCTAGCGGTAGAGGGA 0.458000 103 53 3.27315e-48 6.41332e-48 0.003610 1 0 C8orf34 116328 broad.mit.edu 37 8 69434070 69434070 + Missense_Mutation SNP C C T rs138458632 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:69434070C>T ENST00000337103.4 + 5 2061 c.469C>T c.(469-471)Cgt>Tgt p.R157C C8orf34_ENST00000348340.2_Missense_Mutation_p.R182C|C8orf34_ENST00000518698.1_Missense_Mutation_p.R268C|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000539993.1_Missense_Mutation_p.R182C Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 182 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TCTGAGGCCCCGTGTGATTGG 0.408000 9 77 0 0 0.004482 0 0 APBA2 321 broad.mit.edu 37 15 29385416 29385416 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:29385416G>C ENST00000558402.1 + 8 1807 c.1208G>C c.(1207-1209)cGg>cCg p.R403P APBA2_ENST00000558259.1_Missense_Mutation_p.R403P|APBA2_ENST00000558330.1_Missense_Mutation_p.R403P|APBA2_ENST00000411764.1_Missense_Mutation_p.R403P|APBA2_ENST00000561069.1_Missense_Mutation_p.R403P Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 403 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) GCCGTCAGCCGGGTCAAGGTA 0.597000 4 37 0 0 0.009096 0 0 LOC647264 647264 broad.mit.edu 37 13 64321049 64321049 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:64321049G>T ENST00000453638.2 + 1 116 c.116G>T c.(115-117)gGc>gTc p.G39V endometrium(2)|lung(1)|urinary_tract(1) 4 tatggaactggctacagctgt 0.552000 9 46 0.000274275 0.000296245 0.004482 1 0 METAP1D 254042 broad.mit.edu 37 2 172942622 172942622 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:172942622G>T ENST00000315796.4 + 7 1189 c.802_splice c.e7+1 p.A268_splice METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 268 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 TTGGCATCATGGTAAGAAAGT 0.408000 20 26 2.32416e-17 3.74133e-17 0.002299 1 0 AKAP10 11216 broad.mit.edu 37 17 19827722 19827722 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:19827722C>T ENST00000225737.6 - 11 1907 c.1751_splice c.e11+1 p.G584_splice AKAP10_ENST00000395536.3_Splice_Site_p.G526_splice NM_007202.3 NP_009133.2 O43572 AKA10_HUMAN A kinase (PRKA) anchor protein 10 584 blood coagulation|protein localization cytosol|mitochondrion|plasma membrane signal transducer activity NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 21 all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165) TAAGCTTACCCGGCATATGTC 0.289000 5 17 0 0 0.000602 0 0 ZFHX4 79776 broad.mit.edu 37 8 77763592 77763592 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:77763592G>T ENST00000521891.2 + 10 4883 c.4435G>T c.(4435-4437)Gat>Tat p.D1479Y ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1434Y|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1434Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1453Y NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1434 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) TATGTCCCAGGATGACCATGG 0.507000 HNSCC(33;0.089) 50 20 3.39706e-21 5.79579e-21 0.003610 1 0 KIF26B 55083 broad.mit.edu 37 1 245319810 245319810 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:245319810C>T ENST00000407071.2 + 2 730 c.290C>T c.(289-291)cCg>cTg p.P97L NM_018012.3 NP_060482.2 Q2KJY2 KI26B_HUMAN kinesin family member 26B 97 Gly-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ACTAGTTCGCCGGGCTCCTTG 0.781000 4 2 0 0 0.009096 0 0 NPAP1 23742 broad.mit.edu 37 15 24924112 24924112 + Nonsense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:24924112C>G ENST00000329468.2 + 1 3572 c.3098C>G c.(3097-3099)tCa>tGa p.S1033* NM_018958.2 NP_061831.2 nuclear pore associated protein 1 AGTTCCACATCAGGAGAACTC 0.547000 15 30 0 0 0.003163 0 0 ZSWIM2 151112 broad.mit.edu 37 2 187692726 187692726 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:187692726T>C ENST00000295131.2 - 9 1926 c.1887A>G c.(1885-1887)gaA>gaG p.E629E NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger, SWIM-type containing 2 629 apoptosis zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1) 52 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164) ATTGAACTCCTTCTATTATTA 0.294000 7 19 0 0 0.003080 0 0 LRP1B 53353 broad.mit.edu 37 2 141243066 141243066 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:141243066C>A ENST00000389484.3 - 59 10242 c.9271G>T c.(9271-9273)Gca>Tca p.A3091S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3091 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) ACAGCAAGTGCATTGGGGACC 0.368000 TSP Lung(27;0.18) 14 28 2.23348e-06 2.64725e-06 0.004007 1 0 SPATA31E1 286234 broad.mit.edu 37 9 90502201 90502201 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:90502201C>A ENST00000325643.5 + 4 2865 c.2799C>A c.(2797-2799)ccC>ccA p.P933P NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TCCAGAGGCCCCCGAGAGGGT 0.622000 25 12 2.48779e-11 3.38362e-11 0.005443 1 0 TTN 7273 broad.mit.edu 37 2 179611185 179611185 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179611185A>T ENST00000360870.5 - 46 16164 c.15942T>A c.(15940-15942)gtT>gtA p.V5314V TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8826 Ig-like 33. 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) CACTTAATTCAACTTCCAGGA 0.393000 17 35 0 0 0.004990 0 0 LRP2 4036 broad.mit.edu 37 2 170038695 170038695 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:170038695G>T ENST00000263816.3 - 51 10265 c.9980C>A c.(9979-9981)gCc>gAc p.A3327D LRP2_ENST00000461418.1_5'UTR NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3327 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGGGTGAAGGGCAAGTCCTCT 0.507000 18 57 1.99824e-07 2.45907e-07 0.004990 1 0 R3HDML 140902 broad.mit.edu 37 20 42979383 42979383 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:42979383G>A ENST00000217043.2 + 5 885 c.713G>A c.(712-714)aGc>aAc p.S238N RP5-881L22.5_ENST00000430481.1_RNA|RP5-881L22.5_ENST00000438702.1_RNA NM_178491.2 NP_848586.1 Q9H3Y0 CRSPL_HUMAN R3H domain containing-like 238 extracellular region peptidase inhibitor activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) AGCTGCAATAGCAACATGTGC 0.552000 31 74 0 0 0.012213 0 0 NRXN1 9378 broad.mit.edu 37 2 50699460 50699460 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:50699460C>A ENST00000404971.1 - 17 4679 c.3340G>T c.(3340-3342)Gga>Tga p.G1114* NRXN1_ENST00000402717.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401710.1_Nonsense_Mutation_p.G83*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.G1066*|NRXN1_ENST00000401669.2_Nonsense_Mutation_p.G1074*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.G1074* NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 1074 EGF-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 p.G1115R(1) 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) TCGATCTGTCCGTTGCAGAAA 0.433000 6 26 0.00116845 0.00123857 0.001168 1 0 SALL3 27164 broad.mit.edu 37 18 76754795 76754795 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:76754795C>A ENST00000536229.3 + 1 3114 c.2405C>A c.(2404-2406)aCc>aAc p.T802N SALL3_ENST00000575389.2_Missense_Mutation_p.T935N|SALL3_ENST00000537592.2_Missense_Mutation_p.T935N Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 969 DDDMDE -> NDNLDK (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGCTCAAGACCGAGAGGCCG 0.741000 8 1 5.18039e-06 6.05425e-06 0.003080 1 0 LSAMP 4045 broad.mit.edu 37 3 115560705 115560705 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:115560705G>T ENST00000490035.1 - 6 1405 c.906C>A c.(904-906)agC>agA p.S302R LSAMP_ENST00000539563.1_Missense_Mutation_p.S299R NM_002338.3 NP_002329.2 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 302 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) AAAGGACTAGGCTGGCATTGG 0.493000 27 63 2.65835e-16 4.18264e-16 0.007291 1 0 MYH7 4625 broad.mit.edu 37 14 23887530 23887530 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:23887530G>T ENST00000355349.3 - 30 4220 c.4058C>A c.(4057-4059)gCc>gAc p.A1353D NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1353 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCGGCCTTGGCCTCCGTCTC 0.672000 18 46 1.99824e-07 2.45907e-07 0.004990 1 0 CEP350 9857 broad.mit.edu 37 1 179982981 179982981 + Splice_Site SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:179982981G>C ENST00000367607.3 + 10 1811 c.e10-1 NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ATACTTTGCAGGGGGTCACAT 0.358000 7 44 0 0 0.003080 0 0 ADARB2 105 broad.mit.edu 37 10 1262988 1262988 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:1262988T>G ENST00000381312.1 - 7 1910 c.1585A>C c.(1585-1587)Acg>Ccg p.T529P ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 529 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) ACGGGGACCGTCCCTTCCCCG 0.652000 5 2 0 0 0.000602 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672953 113672953 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:113672953A>T ENST00000330212.3 + 3 867 c.568A>T c.(568-570)Aag>Tag p.K190* ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.K184* NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 190 integral to membrane acyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 CAGAGCCAAGAAGAATCCAGG 0.557000 26 156 0 0 0.004656 0 0 EPB41L2 2037 broad.mit.edu 37 6 131211455 131211455 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:131211455C>A ENST00000337057.3 - 11 1820 c.1639G>T c.(1639-1641)Gtc>Ttc p.V547F EPB41L2_ENST00000528282.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000527659.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525271.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000392427.3_Missense_Mutation_p.V547F|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000445890.2_Missense_Mutation_p.V547F|EPB41L2_ENST00000530481.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V547F|EPB41L2_ENST00000525193.1_Missense_Mutation_p.V547F NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 547 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) CTCCTGGAGACCCGTTTACTA 0.448000 64 19 3.07184e-27 5.60712e-27 0.003610 1 0 PPAN 56342 broad.mit.edu 37 19 10221814 10221814 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:10221814G>T ENST00000253107.7 + 12 1501 c.1395G>T c.(1393-1395)cgG>cgT p.R465R PPAN-P2RY11_ENST00000393796.4_Intron|PPAN-P2RY11_ENST00000428358.1_Intron|PPAN_ENST00000393793.1_Silent_p.R412R|PPAN_ENST00000556468.1_Intron NM_020230.5 NP_064615.3 peter pan homolog (Drosophila) endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 15 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) GCCGGGGCCGGGGCCGCCCAG 0.701000 9 1 7.48243e-07 9.03947e-07 0.006214 1 0 EPRS 2058 broad.mit.edu 37 1 220151953 220151953 + Missense_Mutation SNP G G A rs143796513 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:220151953G>A ENST00000366923.3 - 28 4287 c.4018C>T c.(4018-4020)Cgc>Tgc p.R1340C NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1340 Prolyl-tRNA synthetase. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) GCTCTAACGCGGATGTTAACA 0.393000 21 15 0 0 0.010504 0 0 IFT43 112752 broad.mit.edu 37 14 76549611 76549611 + Silent SNP G G T rs143729954 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:76549611G>T ENST00000314067.6 + 8 520 c.486G>T c.(484-486)gcG>gcT p.A162A IFT43_ENST00000238628.6_Silent_p.A167A NM_001102564.1 NP_001096034.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 162 cilium morphogenesis|intraflagellar retrograde transport endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 AAGTGCTCGCGCCGGAGCACG 0.582000 5 26 0.000602214 0.000644899 0.000602 1 0 LCLAT1 253558 broad.mit.edu 37 2 30785036 30785036 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:30785036A>T ENST00000309052.4 + 5 712 c.503A>T c.(502-504)tAt>tTt p.Y168F LCLAT1_ENST00000379509.3_Missense_Mutation_p.Y130F|LCLAT1_ENST00000359433.1_Missense_Mutation_p.Y168F|LCLAT1_ENST00000540623.1_Missense_Mutation_p.Y130F|LCLAT1_ENST00000319406.4_Missense_Mutation_p.Y168F|LCLAT1_ENST00000491680.2_3'UTR NM_182551.3 NP_872357.2 Q6UWP7 LCLT1_HUMAN lysocardiolipin acyltransferase 1 168 multicellular organismal development|phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2) 19 GCTGCTGCCTATATCTTCATT 0.333000 14 18 0 0 0.002450 0 0 GPD2 2820 broad.mit.edu 37 2 157427724 157427724 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:157427724G>T ENST00000310454.6 + 13 2059 c.1687G>T c.(1687-1689)Gtc>Ttc p.V563F GPD2_ENST00000540309.1_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.V563F|GPD2_ENST00000409674.1_Missense_Mutation_p.V563F|GPD2_ENST00000409125.4_Missense_Mutation_p.V336F NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 563 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 CTTTCTAAATGTCCAGGCAGC 0.423000 21 75 0.000375601 0.000405339 0.002780 1 0 GATA3 2625 broad.mit.edu 37 10 8100408 8100408 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:8100408G>T ENST00000379328.3 + 3 950 c.382G>T c.(382-384)Ggg>Tgg p.G128W GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.G128W NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 128 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 CGGCTCCCCGGGGCCCCTCTC 0.716000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 19 11 8.28177e-16 1.28691e-15 0.007413 1 0 NAV2 89797 broad.mit.edu 37 11 20066722 20066722 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:20066722A>T ENST00000396085.1 + 14 3769 c.3408A>T c.(3406-3408)acA>acT p.T1136T NAV2_ENST00000533917.1_Silent_p.T222T|NAV2_ENST00000311043.8_Silent_p.T222T|NAV2_ENST00000396087.3_Silent_p.T1159T|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000540292.1_Silent_p.T1090T|NAV2_ENST00000349880.4_Silent_p.T1136T|NAV2_ENST00000527559.2_Silent_p.T1088T|NAV2_ENST00000360655.4_Silent_p.T1072T NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 1159 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CCATGATCACAGCCAGCGGGG 0.582000 15 42 0 0 0.004007 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65208183 65208183 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:65208183G>T ENST00000247226.7 + 14 2088 c.1780G>T c.(1780-1782)Ggc>Tgc p.G594C PLEKHG3_ENST00000394691.1_Missense_Mutation_p.G650C|PLEKHG3_ENST00000471182.2_Missense_Mutation_p.G183C|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.G155C NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 650 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CAGCGAGAAGGGCCTGGCCCG 0.662000 11 42 3.86212e-05 4.32419e-05 0.008291 1 0 ADAD1 132612 broad.mit.edu 37 4 123350835 123350835 + Missense_Mutation SNP C C A rs55924141 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:123350835C>A ENST00000296513.2 + 13 1857 c.1672C>A c.(1672-1674)Caa>Aaa p.Q558K ADAD1_ENST00000388724.2_Missense_Mutation_p.Q547K|ADAD1_ENST00000388725.2_Missense_Mutation_p.Q540K NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 558 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTACTTACAACAACATGGCTA 0.333000 33 6 2.09667e-21 3.59674e-21 0.003755 1 0 HOXD10 3236 broad.mit.edu 37 2 176981685 176981685 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:176981685G>T ENST00000249501.4 + 1 379 c.124G>T c.(124-126)Gac>Tac p.D42Y HOXD10_ENST00000490088.2_Intron NM_002148.3 NP_002139.2 P28358 HXD10_HUMAN homeobox D10 42 nucleus sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) ACCTAGCGCAGACATGGGGAC 0.468000 25 97 2.24059e-21 3.83316e-21 0.006320 1 0 ANO4 121601 broad.mit.edu 37 12 101488070 101488070 + Splice_Site SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:101488070G>C ENST00000392979.3 + 17 1994 c.1633_splice c.e17+1 p.E545_splice ANO4_ENST00000299222.9_Splice_Site_p.E100_splice|ANO4_ENST00000550015.1_Splice_Site_p.E100_splice|ANO4_ENST00000392977.3_Splice_Site_p.E580_splice NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 580 chloride channel complex chloride channel activity p.E545*(1) 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 GACGAATTTAGGTGAGTGGAA 0.338000 HNSCC(74;0.22) 14 29 0 0 0.003163 0 0 MEGF10 84466 broad.mit.edu 37 5 126738321 126738321 + Silent SNP G G T rs139531628 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:126738321G>T ENST00000274473.6 + 9 1131 c.864G>T c.(862-864)acG>acT p.T288T MEGF10_ENST00000418761.2_Silent_p.T288T|MEGF10_ENST00000503335.2_Silent_p.T288T|MEGF10_ENST00000508365.1_Silent_p.T288T NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 288 EGF-like 5.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) ATGGAGGGACGTGTGATGCTG 0.502000 28 14 2.12542e-12 2.99469e-12 0.006320 1 0 ZFAT 57623 broad.mit.edu 37 8 135614601 135614601 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:135614601T>G ENST00000520727.1 - 7 1624 c.1325A>C c.(1324-1326)cAc>cCc p.H442P ZFAT_ENST00000377838.3_Missense_Mutation_p.H454P|ZFAT_ENST00000520356.1_Missense_Mutation_p.H442P|ZFAT_ENST00000520214.1_Missense_Mutation_p.H442P|ZFAT_ENST00000429442.2_Missense_Mutation_p.H442P|ZFAT_ENST00000523399.1_Missense_Mutation_p.H392P NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 454 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) CACGAAGGGGTGCTTCCTGAC 0.617000 71 18 0 0 0.003610 0 0 CHERP 10523 broad.mit.edu 37 19 16641581 16641581 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:16641581C>A ENST00000546361.2 - 6 936 c.786_splice c.e6+1 p.R262_splice CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Splice_Site_p.R273_splice NM_006387.5 NP_006378.3 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum protein 262 CID. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3) 24 CCCACGCACCCGGGCGATCTT 0.692000 24 9 2.70639e-06 3.1987e-06 0.002299 1 0 STK4 6789 broad.mit.edu 37 20 43629116 43629116 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:43629116G>C ENST00000372806.3 + 8 1010 c.915G>C c.(913-915)caG>caC p.Q305H STK4_ENST00000372801.1_Missense_Mutation_p.Q305H|STK4_ENST00000396731.4_Missense_Mutation_p.Q305H|STK4_ENST00000499879.2_Missense_Mutation_p.Q250H NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 305 apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) TGAAACGCCAGGAATCCCAGC 0.463000 3 17 0 0 0.004672 0 0 CEP350 9857 broad.mit.edu 37 1 179982980 179982980 + Splice_Site SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:179982980A>C ENST00000367607.3 + 10 1811 c.e10-1 NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 CATACTTTGCAGGGGGTCACA 0.358000 7 44 0 0 0.003080 0 0 KIAA1551 55196 broad.mit.edu 37 12 32138088 32138088 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:32138088G>A ENST00000312561.4 + 4 4613 c.4199G>A c.(4198-4200)aGt>aAt p.S1400N KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 CAGAAAGGAAGTGTGGGAGCT 0.348000 25 10 0 0 0.003330 0 0 USP30 84749 broad.mit.edu 37 12 109520514 109520514 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:109520514G>T ENST00000257548.5 + 10 1007 c.914G>T c.(913-915)aGg>aTg p.R305M USP30_ENST00000392784.2_Missense_Mutation_p.R274M NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 305 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 GAACACCAGAGGACCACTTTT 0.458000 7 32 5.4927e-09 7.02125e-09 0.004482 1 0 ENPP1 5167 broad.mit.edu 37 6 132173314 132173314 + Splice_Site SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:132173314G>A ENST00000360971.2 + 5 576 c.e5-1 NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 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) AAATATTTTAGGTGAGAAAAG 0.318000 12 10 0 0 0.001855 0 0 VPS51 738 broad.mit.edu 37 11 64878981 64878981 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:64878981G>A ENST00000279281.3 + 10 2363 c.2271G>A c.(2269-2271)gtG>gtA p.V757V VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) ACGAAGTGGTGGCCTCTGCTG 0.642000 10 33 0 0 0.008291 0 0 ZNF724P 440519 broad.mit.edu 37 19 23414142 23414142 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:23414142T>A ENST00000418100.1 - 3 269 c.152A>T c.(151-153)gAc>gTc p.D51V ZNF724P_ENST00000597037.1_Missense_Mutation_p.D51V endometrium(3)|kidney(1)|lung(2)|ovary(2) 8 GGTGATCAGGTCTGGCTTAGA 0.398000 23 117 0 0 0.003330 0 0 MAP3K9 4293 broad.mit.edu 37 14 71205044 71205044 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:71205044C>A ENST00000554752.2 - 8 1761 c.1762G>T c.(1762-1764)Gag>Tag p.E588* MAP3K9_ENST00000381250.4_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000555993.2_Nonsense_Mutation_p.E588*|MAP3K9_ENST00000553414.1_Nonsense_Mutation_p.E330*|MAP3K9_ENST00000554146.1_Nonsense_Mutation_p.E325* P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 588 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) GCCCTCTTCTCCTCCTCCTCC 0.572000 16 53 8.60227e-14 1.26611e-13 0.004007 1 0 XIRP2 129446 broad.mit.edu 37 2 168100000 168100000 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:168100000C>A ENST00000409195.1 + 9 2187 c.2098C>A c.(2098-2100)Cat>Aat p.H700N XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H700N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H478N|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 525 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 TGAAACTCAACATCTAGATCA 0.383000 9 32 3.09899e-07 3.80247e-07 0.004482 1 0 CSMD3 114788 broad.mit.edu 37 8 113256691 113256691 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:113256691G>T ENST00000297405.5 - 65 10578 c.10334C>A c.(10333-10335)gCa>gAa p.A3445E CSMD3_ENST00000343508.3_Missense_Mutation_p.A3405E|CSMD3_ENST00000455883.2_Missense_Mutation_p.A3276E|CSMD3_ENST00000352409.3_Missense_Mutation_p.A3375E NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3445 Sushi 28. integral to membrane|plasma membrane p.A3445V(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TGTTCCACCTGCTAAGAAGAA 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 29 80 5.91797e-21 1.00831e-20 0.012213 1 0 MRGPRD 116512 broad.mit.edu 37 11 68748244 68748244 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:68748244G>T ENST00000309106.3 - 1 211 c.212C>A c.(211-213)gCc>gAc p.A71D NM_198923.2 NP_944605.2 Q8TDS7 MRGRD_HUMAN MAS-related GPR, member D 71 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GAGGAGGTCGGCTGCCGCCAG 0.577000 33 35 3.90053e-15 5.94321e-15 0.012213 1 0 VIL1 7429 broad.mit.edu 37 2 219297606 219297606 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:219297606C>A ENST00000248444.5 + 13 1520 c.1432C>A c.(1432-1434)Cgg>Agg p.R478R VIL1_ENST00000392114.2_Silent_p.R167R NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 478 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGTCCAGATCCGGGTCCCAAT 0.542000 12 34 0.00185496 0.00196131 0.001855 1 0 SLC14A1 6563 broad.mit.edu 37 18 43319536 43319536 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:43319536C>G ENST00000589700.1 + 5 707 c.707C>G c.(706-708)tCt>tGt p.S236C RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000402943.2_Silent_p.L180L|SLC14A1_ENST00000502059.2_Silent_p.L177L|SLC14A1_ENST00000436407.3_Silent_p.L341L|SLC14A1_ENST00000321925.4_Silent_p.L285L|SLC14A1_ENST00000535474.1_Silent_p.L153L|SLC14A1_ENST00000586142.1_Silent_p.L285L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Silent_p.L341L|SLC14A1_ENST00000591541.1_5'UTR Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 0 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 ACTTTGGACTCTGGGGTTTCA 0.527000 37 45 0 0 0.003271 0 0 BCO2 83875 broad.mit.edu 37 11 112071445 112071445 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:112071445G>C ENST00000357685.5 + 7 1110 c.975G>C c.(973-975)tgG>tgC p.W325C BCO2_ENST00000531169.1_Missense_Mutation_p.W291C|BCO2_ENST00000532593.1_Missense_Mutation_p.W220C|BCO2_ENST00000438022.1_Missense_Mutation_p.W291C|BCO2_ENST00000526088.1_Missense_Mutation_p.W291C|BCO2_ENST00000393032.2_Missense_Mutation_p.W291C|BCO2_ENST00000361053.4_Missense_Mutation_p.W252C Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 325 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 GGATAAGCTGGGAACCCCAGT 0.398000 37 32 0 0 0.007835 0 0 CPS1 1373 broad.mit.edu 37 2 211502455 211502455 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:211502455G>T ENST00000233072.5 + 22 2913 c.2717G>T c.(2716-2718)aGg>aTg p.R906M CPS1_ENST00000430249.2_Missense_Mutation_p.R912M|CPS1_ENST00000451903.2_Missense_Mutation_p.R455M|CPS1_ENST00000497121.1_3'UTR NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 906 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) ACCCTGAAAAGGGCAAAGGAG 0.408000 15 29 1.15088e-07 1.42187e-07 0.004007 1 0 SSPO 23145 broad.mit.edu 37 7 149531024 149531024 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:149531024C>A ENST00000378016.2 + 0 15553 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) ACTGGGGGCCCATGACTTGGC 0.582000 6 12 5.9392e-07 7.22382e-07 0.001168 1 0 ZC3H13 23091 broad.mit.edu 37 13 46584576 46584576 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:46584576G>C ENST00000242848.4 - 7 1001 c.653C>G c.(652-654)tCt>tGt p.S218C ZC3H13_ENST00000470308.1_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.S218C Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 218 Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TCGCTTCGGAGATTTGCTAGA 0.423000 44 6 0 0 0.011902 0 0 SEC24B 10427 broad.mit.edu 37 4 110433128 110433128 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:110433128A>G ENST00000265175.5 + 9 1847 c.1792A>G c.(1792-1794)Aca>Gca p.T598A SEC24B_ENST00000399100.2_Missense_Mutation_p.T563A|SEC24B_ENST00000504968.2_Missense_Mutation_p.T628A NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 598 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) ACCAGTGATAACATCAAATAC 0.388000 16 19 0 0 0.004990 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895680 24895680 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:24895680C>A ENST00000382071.2 + 4 861 c.776C>A c.(775-777)tCc>tAc p.S259Y C1QTNF9_ENST00000332018.4_Missense_Mutation_p.S259Y|C1QTNF9-AS1_ENST00000449656.1_RNA P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 259 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) ACTGTTTTCTCCAGAAATGTT 0.448000 27 12 2.09667e-21 3.59674e-21 0.003755 1 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643060 1643060 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:1643060C>T ENST00000399682.1 - 1 308 c.264G>A c.(262-264)aaG>aaA p.K88K NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 88 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CACAGCCCCCCTTGGAACCCC 0.672000 27 85 0 0 0.005443 0 0 ADCY2 108 broad.mit.edu 37 5 7802380 7802380 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:7802380T>C ENST00000338316.4 + 21 2767 c.2678T>C c.(2677-2679)aTt>aCt p.I893T ADCY2_ENST00000537121.1_Missense_Mutation_p.I713T NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 893 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTTGCCTCCATTCCGGATTTC 0.468000 14 81 0 0 0.001855 0 0 TDRD7 23424 broad.mit.edu 37 9 100194369 100194369 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:100194369C>A ENST00000355295.4 + 4 707 c.412C>A c.(412-414)Cct>Act p.P138T TDRD7_ENST00000422139.2_Missense_Mutation_p.P64T NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 138 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TGGCAAAAAACCTAATCCAGC 0.388000 27 48 2.44723e-14 3.65337e-14 0.004656 1 0 CLRN2 645104 broad.mit.edu 37 4 17516915 17516915 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:17516915G>T ENST00000511148.2 + 1 128 c.26G>T c.(25-27)tGg>tTg p.W9L NM_001079827.2 NP_001073296.1 A0PK11 CLRN2_HUMAN clarin 2 9 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1) 15 AAAAAGGCGTGGTATGGGCTG 0.537000 7 36 0.000157383 0.000171915 0.003080 1 0 OR10A5 144124 broad.mit.edu 37 11 6866971 6866971 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:6866971C>A ENST00000299454.4 + 1 89 c.58C>A c.(58-60)Cta>Ata p.L20I OR10A5_ENST00000379831.2_Missense_Mutation_p.L24I Q9H207 O10A5_HUMAN olfactory receptor, family 10, subfamily A, member 5 20 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) CTTCTCTTCCCTACCTACTGA 0.418000 28 68 1.16021e-09 1.50923e-09 0.007291 1 0 MDM2 4193 broad.mit.edu 37 12 69210673 69210673 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:69210673G>T ENST00000462284.1 + 4 558 c.256G>T c.(256-258)Gat>Tat p.D86Y MDM2_ENST00000258148.7_Missense_Mutation_p.D86Y|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.D55Y|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.D80Y|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393410.1_Intron NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 80 Necessary for interaction with USP2.|SWIB. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TTGTTCAAATGATCTTCTAGG 0.338000 A """sarcoma, glioma, colorectal, other""" 20 22 1.55795e-14 2.33692e-14 0.012319 1 0 PDZRN3 23024 broad.mit.edu 37 3 73433800 73433800 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:73433800C>T ENST00000263666.4 - 10 2031 c.1917G>A c.(1915-1917)ccG>ccA p.P639P PDZRN3_ENST00000479530.1_Silent_p.P356P|PDZRN3_ENST00000462146.2_Silent_p.P296P|PDZRN3_ENST00000535920.1_Silent_p.P361P|PDZRN3_ENST00000466780.1_Silent_p.P296P NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 639 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) ACTCGTCCACCGGGATCCCCA 0.657000 50 110 0 0 0.003610 0 0 PELP1 27043 broad.mit.edu 37 17 4594689 4594689 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:4594689T>A ENST00000301396.4 - 2 523 c.298A>T c.(298-300)Agt>Tgt p.S100C PELP1_ENST00000574876.1_Missense_Mutation_p.S100C|PELP1_ENST00000572293.1_Missense_Mutation_p.S150C|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_5'UTR|PELP1_ENST00000269230.7_Missense_Mutation_p.S100C|PELP1_ENST00000570823.1_5'UTR Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 100 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 TTGATGGAACTGAGACGTGCA 0.463000 54 10 0 0 0.003610 0 0 GTF3C1 2975 broad.mit.edu 37 16 27509014 27509014 + Missense_Mutation SNP T T A rs146349254 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:27509014T>A ENST00000356183.4 - 14 2309 c.2294A>T c.(2293-2295)aAa>aTa p.K765I GTF3C1_ENST00000561623.1_Missense_Mutation_p.K765I NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 765 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ATCACTTTTTTTCATCCGTCC 0.443000 16 55 0 0 0.004007 0 0 KEL 3792 broad.mit.edu 37 7 142640966 142640966 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:142640966T>A ENST00000355265.2 - 14 1970 c.1496A>T c.(1495-1497)cAg>cTg p.Q499L NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 499 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) CGATCCAAGCTGTATCTGGGG 0.542000 12 9 0 0 0.001855 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828077 94828077 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:94828077G>T ENST00000285949.5 + 6 1192 c.1191_splice c.e6-1 p.G398_splice NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 398 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) CTCTCTGCAGGGCTACCAGAT 0.632000 14 54 1.5739e-10 2.09075e-10 0.004007 1 0 GOLGA6A 342096 broad.mit.edu 37 15 74368284 74368284 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:74368284G>T ENST00000290438.3 - 8 647 c.607C>A c.(607-609)Cag>Aag p.Q203K NM_001038640.2 NP_001033729.2 Q9NYA3 GOG6A_HUMAN golgin A6 family, member A 203 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1) 16 TTTATGGTCTGCTGTAACCAC 0.577000 16 126 0.00400662 0.00422211 0.004007 1 0 MKL2 57496 broad.mit.edu 37 16 14352005 14352005 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:14352005C>A ENST00000571589.1 + 16 2923 c.2751C>A c.(2749-2751)ctC>ctA p.L917L MKL2_ENST00000574045.1_Silent_p.L867L|MKL2_ENST00000318282.5_Silent_p.L867L|MKL2_ENST00000341243.5_Silent_p.L906L NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 906 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 TTGATATCCTCATTAAGAGTG 0.393000 9 25 0.000274275 0.000296245 0.004482 1 0 TMTC2 160335 broad.mit.edu 37 12 83290354 83290354 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:83290354C>T ENST00000549919.1 + 4 3199 c.1394C>T c.(1393-1395)gCg>gTg p.A465V TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V|TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 471 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTCAAGACTGCGATCAGGAAT 0.388000 13 30 0 0 0.001368 0 0 PAX5 5079 broad.mit.edu 37 9 36882063 36882063 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:36882063G>T ENST00000358127.4 - 8 1024 c.950C>A c.(949-951)cCa>cAa p.P317Q PAX5_ENST00000414447.1_Missense_Mutation_p.P274Q|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000377853.2_Missense_Mutation_p.P317Q|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.P209Q|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000520281.1_Missense_Mutation_p.P274Q NM_016734.1 NP_057953.1 Q02548 PAX5_HUMAN paired box 5 317 cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter nucleus DNA binding p.?(22) PAX5/JAK2(18) NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1) 171 all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44) GBM - Glioblastoma multiforme(29;0.0108) GGGGACGTGTGGAGGGTACCC 0.637000 """T, Mis, D, F, S""" """IGH@, ETV6, PML, FOXP1, ZNF521, ELN""" """NHL, ALL, B-ALL""" 8 21 3.07112e-06 3.61274e-06 0.010729 1 0 MRPS28 28957 broad.mit.edu 37 8 80831369 80831369 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:80831369C>A ENST00000276585.4 - 3 432 c.410G>T c.(409-411)gGa>gTa p.G137V MRPS28_ENST00000521605.1_Missense_Mutation_p.R76S|MRPS28_ENST00000521434.1_Missense_Mutation_p.G75V NM_014018.2 NP_054737.1 Q9Y2Q9 RT28_HUMAN mitochondrial ribosomal protein S28 137 mitochondrial small ribosomal subunit endometrium(1)|large_intestine(1)|lung(2)|skin(1) 5 Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06) BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805) GACCCTGGTTCCTTTCTGGTA 0.353000 70 23 1.15062e-32 2.16323e-32 0.003610 1 0 GMIP 51291 broad.mit.edu 37 19 19745413 19745413 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:19745413G>A ENST00000203556.4 - 18 2124 c.1987C>T c.(1987-1989)Ccc>Tcc p.P663S GMIP_ENST00000586269.1_Intron|GMIP_ENST00000587238.1_Missense_Mutation_p.P637S|GMIP_ENST00000445806.2_Missense_Mutation_p.P634S NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 663 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TCAGGGCTGGGGCTGGGGGTC 0.617000 109 38 0 0 0.003610 0 0 TP53BP2 7159 broad.mit.edu 37 1 223985993 223985993 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:223985993C>G ENST00000391878.2 - 13 2253 c.1485G>C c.(1483-1485)gcG>gcC p.A495A TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.A624A NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 618 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TTTTTCCTGGCGCCTGCTGTT 0.493000 53 21 0 0 0.003610 0 0 RASGRP2 10235 broad.mit.edu 37 11 64497271 64497271 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:64497271C>A ENST00000377494.1 - 13 2477 c.e13-1 RASGRP2_ENST00000377497.3_Splice_Site|RASGRP2_ENST00000394432.3_Splice_Site|RASGRP2_ENST00000354024.3_Splice_Site Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TGCCCAGGATCTGCAATAGAG 0.517000 20 53 1.56452e-12 2.21185e-12 0.007413 1 0 DSCAM 1826 broad.mit.edu 37 21 41385052 41385052 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:41385052G>A ENST00000400454.1 - 33 6425 c.5948C>T c.(5947-5949)gCt>gTt p.A1983V NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1983 HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). 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) GCTCATTTTAGCTGCCTGTCC 0.582000 9 28 0 0 0.004482 0 0 AVPR1A 552 broad.mit.edu 37 12 63543863 63543863 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:63543863C>A ENST00000299178.2 - 1 859 c.754G>T c.(754-756)Gcg>Tcg p.A252S NM_000706.4 NP_000697.1 P37288 V1AR_HUMAN arginine vasopressin receptor 1A 252 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TGGCGCGACGCCGTCTTCCCG 0.622000 51 72 3.93605e-18 6.42684e-18 0.003610 1 0 FGD6 55785 broad.mit.edu 37 12 95498862 95498862 + Splice_Site SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:95498862C>G ENST00000343958.4 - 14 3641 c.3417_splice c.e14-1 p.V1140_splice FGD6_ENST00000549499.1_Splice_Site_p.V1140_splice|FGD6_ENST00000546711.1_Splice_Site_p.V1140_splice NM_018351.3 NP_060821.3 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 1140 PH 1. actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 GGTTTTCTGACCTGGAAGAAA 0.408000 18 65 0 0 0.008871 0 0 ZNF423 23090 broad.mit.edu 37 16 49672753 49672753 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:49672753C>G ENST00000561648.1 - 4 363 c.310G>C c.(310-312)Gcc>Ccc p.A104P ZNF423_ENST00000562871.1_Missense_Mutation_p.A44P|ZNF423_ENST00000562520.1_Missense_Mutation_p.A44P|ZNF423_ENST00000262383.2_Missense_Mutation_p.A104P|ZNF423_ENST00000567169.1_5'UTR|ZNF423_ENST00000563137.2_Missense_Mutation_p.A44P|ZNF423_ENST00000535559.1_5'UTR NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 104 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GGAGACGAGGCCACCCAGGAG 0.602000 10 5 0 0 0.010729 0 0 KLF17 128209 broad.mit.edu 37 1 44584645 44584645 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:44584645G>C ENST00000372299.3 + 1 124 c.66G>C c.(64-66)gcG>gcC p.A22A KLF17_ENST00000476802.1_3'UTR NM_173484.3 NP_775755.3 Q5JT82 KLF17_HUMAN Kruppel-like factor 17 22 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.A22A(2) NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1) 18 Acute lymphoblastic leukemia(166;0.155) GGCAGGCGGCGCACCAGGCTG 0.697000 13 12 0 0 0.001855 0 0 DRC1 92749 broad.mit.edu 37 2 26676226 26676226 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:26676226C>A ENST00000288710.2 + 14 1802 c.1728C>A c.(1726-1728)agC>agA p.S576R NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) AGAAGGCGAGCATGGAGGAGA 0.562000 44 48 2.13384e-23 3.75292e-23 0.003610 1 0 ATP10B 23120 broad.mit.edu 37 5 160059308 160059308 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:160059308A>T ENST00000327245.5 - 13 2294 c.1448T>A c.(1447-1449)cTg>cAg p.L483Q CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 483 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGAGAAGGACAGGCATTGGTA 0.552000 15 33 0 0 0.002450 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2306276 2306276 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:2306276G>T ENST00000290974.2 - 8 2130 c.1791C>A c.(1789-1791)gcC>gcA p.A597A RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000515312.1_Silent_p.A527A|ZFYVE28_ENST00000511071.1_Silent_p.A567A NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 597 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 TGGCTAAGCCGGCAGCGTACG 0.687000 20 11 5.03518e-11 6.78938e-11 0.007413 1 0 LINC00521 256369 broad.mit.edu 37 14 94467751 94467751 + RNA SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:94467751G>C ENST00000444118.1 + 0 829 NR_024182.1 CATAGCCCTGGGGAAGGCCTA 0.662000 4 1 0 0 0.009096 0 0 VPS13B 157680 broad.mit.edu 37 8 100883035 100883035 + Silent SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:100883035T>G ENST00000358544.2 + 60 11601 c.11490T>G c.(11488-11490)ctT>ctG p.L3830L VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.L3805L NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3830 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) GAGCTGGACTTTCTCAGCTTC 0.418000 17 97 0 0 0.004990 0 0 PLXNA4 91584 broad.mit.edu 37 7 131870220 131870220 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:131870220C>T ENST00000359827.3 - 16 3958 c.2996G>A c.(2995-2997)cGa>cAa p.R999Q PLXNA4_ENST00000321063.4_Missense_Mutation_p.R999Q Q9HCM2 PLXA4_HUMAN plexin A4 999 IPT/TIG 2. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGATGGAGATCGCCTGGAGGG 0.592000 30 28 0 0 0.009535 0 0 POFUT2 23275 broad.mit.edu 37 21 46703297 46703297 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:46703297C>A ENST00000331343.7 - 3 554 c.e3+1 POFUT2_ENST00000471540.1_Splice_Site|POFUT2_ENST00000349485.5_Splice_Site NM_015227.4 NP_056042.1 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 20 Colorectal(79;0.243) TCAGCAGGCACCTGTAGTACT 0.687000 42 57 2.66277e-13 3.81177e-13 0.006999 1 0 TMEM71 137835 broad.mit.edu 37 8 133764037 133764037 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:133764037A>G ENST00000356838.3 - 4 450 c.308T>C c.(307-309)tTa>tCa p.L103S TMEM71_ENST00000377901.4_Missense_Mutation_p.L103S|TMEM71_ENST00000523829.1_Missense_Mutation_p.L103S|TMEM71_ENST00000517538.1_5'UTR NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 103 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTACCTAACTAAGTTCTCCTT 0.368000 16 99 0 0 0.003163 0 0 CPA3 1359 broad.mit.edu 37 3 148583101 148583101 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:148583101C>A ENST00000296046.3 + 1 59 c.7C>A c.(7-9)Ctc>Atc p.L3I RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 3 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) AACCATGAGGCTCATCCTGCC 0.483000 21 43 1.10513e-12 1.56592e-12 0.002299 1 0 LRRC66 339977 broad.mit.edu 37 4 52861699 52861699 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:52861699C>G ENST00000343457.3 - 4 1495 c.1489G>C c.(1489-1491)Gca>Cca p.A497P NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 497 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CCACTTCCTGCCCCGGTGTTG 0.547000 44 20 0 0 0.009718 0 0 RTP3 83597 broad.mit.edu 37 3 46539704 46539704 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:46539704C>A ENST00000296142.3 + 1 724 c.152C>A c.(151-153)gCc>gAc p.A51D NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 51 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) TGGACCTTCGCCAGGTGAGGG 0.493000 35 11 3.3946e-10 4.49032e-10 0.005524 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144866593 144866593 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:144866593C>T ENST00000369359.4 - 37 6095 c.6058_splice c.e37+1 p.R2019_splice PDE4DIP_ENST00000369356.4_Splice_Site_p.R1883_splice|PDE4DIP_ENST00000369354.3_Splice_Site_p.R1883_splice|PDE4DIP_ENST00000530740.1_Splice_Site_p.R1968_splice|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Splice_Site_p.R1777_splice Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1883 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCTCCTACCCCTTCCACGAG 0.527000 T PDGFRB MPD 37 201 0 0 0.006230 0 0 LILRB1 10859 broad.mit.edu 37 19 55143411 55143411 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:55143411A>T ENST00000396331.1 + 6 741 c.384A>T c.(382-384)tcA>tcT p.S128S LILRB1_ENST00000434867.2_Silent_p.S128S|LILRB1_ENST00000427581.2_Silent_p.S164S|LILRB1_ENST00000396315.1_Silent_p.S128S|LILRB1_ENST00000396317.1_Silent_p.S128S|LILRB1_ENST00000418536.2_Silent_p.S128S|LILRB1_ENST00000448689.1_Silent_p.S128S|LILRB1_ENST00000396321.2_Silent_p.S128S|LILRB1_ENST00000324602.7_Silent_p.S128S|LILRB1_ENST00000396327.3_Silent_p.S128S|LILRB1_ENST00000396332.4_Silent_p.S128S NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 128 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) CCACCCTCTCAGCCCAGCCCA 0.572000 HNSCC(37;0.09) 59 17 0 0 0.003610 0 0 ASXL3 80816 broad.mit.edu 37 18 31319459 31319459 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:31319459C>A ENST00000269197.5 + 11 2091 c.2091C>A c.(2089-2091)aaC>aaA p.N697K NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 697 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 TTATGTCCAACTTACCATTAA 0.368000 141 115 8.80896e-55 1.7396e-54 0.003610 1 0 DNAH3 55567 broad.mit.edu 37 16 20952745 20952745 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:20952745G>T ENST00000261383.3 - 59 11631 c.11632C>A c.(11632-11634)Cag>Aag p.Q3878K DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3878 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATGAGCTCCTGCCTTAGGACG 0.493000 202 311 1.10085e-114 2.21584e-114 0.003610 1 0 GFRAL 389400 broad.mit.edu 37 6 55223723 55223723 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:55223723C>A ENST00000340465.2 + 6 825 c.739C>A c.(739-741)Cgt>Agt p.R247S NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 247 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) ATGCTGGCAGCGTGTGACTAG 0.378000 46 29 3.86361e-14 5.7269e-14 0.003610 1 0 ASPM 259266 broad.mit.edu 37 1 197104364 197104364 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:197104364T>C ENST00000367409.4 - 5 2291 c.2035A>G c.(2035-2037)Aga>Gga p.R679G ASPM_ENST00000294732.7_Missense_Mutation_p.R679G NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 679 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ATCGGGTGTCTGGGAATATCT 0.338000 8 22 0 0 0.006214 0 0 KIF2B 84643 broad.mit.edu 37 17 51901177 51901177 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:51901177C>T ENST00000268919.4 + 1 939 c.783C>T c.(781-783)aaC>aaT p.N261N NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 261 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 ACCTGCAGAACCAGACCTTCT 0.542000 10 51 0 0 0.008291 0 0 TFG 10342 broad.mit.edu 37 3 100467004 100467004 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:100467004C>G ENST00000240851.4 + 8 1172 c.832C>G c.(832-834)Cag>Gag p.Q278E TFG_ENST00000418917.2_Missense_Mutation_p.Q274E|TFG_ENST00000481203.1_3'UTR|TFG_ENST00000476228.1_Missense_Mutation_p.Q274E|TFG_ENST00000490574.1_Missense_Mutation_p.Q278E NM_001195478.1|NM_001195479.1|NM_006070.5 NP_001182407.1|NP_001182408.1|NP_006061.2 Q92734 TFG_HUMAN TRK-fused gene 278 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9) large_intestine(4)|lung(2)|prostate(1)|stomach(1) 8 AAGCTATAGTCAGCAGACTGG 0.423000 T """NTRK1, ALK""" """papillary thyroid, ALCL, NSCLC""" 41 60 0 0 0.009718 0 0 GRIA4 2893 broad.mit.edu 37 11 105623799 105623799 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:105623799C>A ENST00000393127.2 + 4 786 c.340C>A c.(340-342)Cat>Aat p.H114N GRIA4_ENST00000282499.5_Missense_Mutation_p.H114N|GRIA4_ENST00000530497.1_Missense_Mutation_p.H114N|GRIA4_ENST00000428631.2_Missense_Mutation_p.H114N|GRIA4_ENST00000525187.1_Missense_Mutation_p.H114N|GRIA4_ENST00000393125.2_Missense_Mutation_p.H114N NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 114 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) CAGCGCCTTACATATCTCCCT 0.468000 11 48 1.58986e-06 1.89875e-06 0.008291 1 0 ACSM5 54988 broad.mit.edu 37 16 20448627 20448627 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:20448627G>A ENST00000331849.4 + 12 1621 c.1474G>A c.(1474-1476)Gca>Aca p.A492T NM_017888.2 NP_060358.2 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 492 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1) 51 AAGTGCCCTGGCAGAGCATCC 0.562000 11 71 0 0 0.001855 0 0 C1QB 713 broad.mit.edu 37 1 22987436 22987436 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:22987436C>A ENST00000509305.1 + 3 659 c.313C>A c.(313-315)Cca>Aca p.P105T C1QB_ENST00000314933.6_Missense_Mutation_p.P107T P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 107 Collagen-like 2. complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCCTGGAGCCCCAGGCCCCAA 0.627000 16 56 1.3612e-06 1.62877e-06 0.003163 1 0 SCAPER 49855 broad.mit.edu 37 15 77046201 77046201 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:77046201C>A ENST00000538941.2 - 15 2015 c.1076G>T c.(1075-1077)cGa>cTa p.R359L SCAPER_ENST00000324767.7_Missense_Mutation_p.R605L|SCAPER_ENST00000563290.1_Missense_Mutation_p.R605L NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 604 endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 CTGCACTTCTCGCTTAAACTC 0.378000 32 81 1.88708e-17 3.04165e-17 0.008361 1 0 CPXM2 119587 broad.mit.edu 37 10 125506516 125506516 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:125506516A>G ENST00000241305.3 - 14 2189 c.2035T>C c.(2035-2037)Tgg>Cgg p.W679R CPXM2_ENST00000368854.3_Intron NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 679 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) AGGAGGCGCCAGTAATCCCCA 0.552000 97 100 0 0 0.003610 0 0 DLD 1738 broad.mit.edu 37 7 107546743 107546743 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:107546743G>C ENST00000205402.5 + 8 895 c.614G>C c.(613-615)gGt>gCt p.G205A DLD_ENST00000537148.1_Missense_Mutation_p.G106A|DLD_ENST00000440410.1_Missense_Mutation_p.G182A|DLD_ENST00000437604.2_Missense_Mutation_p.G157A NM_000108.3 NP_000099.2 P09622 DLDH_HUMAN dihydrolipoamide dehydrogenase 205 branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle mitochondrial matrix dihydrolipoyl dehydrogenase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1) 20 NADH(DB00157) TCATCTACAGGTGCTTTATCT 0.333000 5 35 0 0 0.001984 0 0 SERPINA3 12 broad.mit.edu 37 14 95080977 95080977 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:95080977A>T ENST00000553947.1 + 5 1162 c.274A>T c.(274-276)Aag>Tag p.K92* SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.K67*|SERPINA3_ENST00000556388.1_Intron P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 67 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GTTAGTCCTGAAGGCCCCTGA 0.557000 55 35 0 0 0.003610 0 0 RYR3 6263 broad.mit.edu 37 15 34093057 34093057 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:34093057A>G ENST00000389232.4 + 68 9987 c.9918_splice c.e68+1 p.H3306_splice RYR3_ENST00000415757.3_Splice_Site_p.H3306_splice NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3306 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) TGTAAATCTCATGTAAGAACA 0.433000 6 32 0 0 0.001168 0 0 KIAA1432 57589 broad.mit.edu 37 9 5689958 5689958 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:5689958G>T ENST00000414202.2 + 3 443 c.e3-1 KIAA1432_ENST00000381532.2_Splice_Site|KIAA1432_ENST00000251879.6_Splice_Site|KIAA1432_ENST00000449720.2_Splice_Site|KIAA1432_ENST00000418622.3_Splice_Site NM_001206557.1|NM_020829.3 NP_001193486.1|NP_065880.2 Q4ADV7 RIC1_HUMAN KIAA1432 integral to membrane breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1) 45 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TTCTCTTTCAGACGGCAAATG 0.294000 12 5 2.27111e-07 2.7894e-07 0.001368 1 0 CPA4 51200 broad.mit.edu 37 7 129962351 129962351 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:129962351C>G ENST00000222482.4 + 11 1129 c.1101C>G c.(1099-1101)atC>atG p.I367M CPA4_ENST00000493259.1_Missense_Mutation_p.I263M|CPA4_ENST00000445470.2_Missense_Mutation_p.I334M NM_016352.3 NP_057436.2 Q9UI42 CBPA4_HUMAN carboxypeptidase A4 367 histone acetylation|proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Melanoma(18;0.0435) GGAGCAGCATCGACTGGGCAT 0.527000 15 58 0 0 0.006122 0 0 MDFIC 29969 broad.mit.edu 37 7 114655761 114655761 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:114655761C>T ENST00000257724.3 + 5 1103 c.840C>T c.(838-840)atC>atT p.I280I MDFIC_ENST00000393486.1_Silent_p.I171I Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 171 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 TCCACTGTATCCTGGCTTGCT 0.448000 97 432 0 0 0.003610 0 0 GAK 2580 broad.mit.edu 37 4 877135 877135 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:877135T>A ENST00000314167.4 - 13 1482 c.1372A>T c.(1372-1374)Agg>Tgg p.R458W GAK_ENST00000511163.1_Missense_Mutation_p.R379W NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 458 Phosphatase tensin-type. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) CGGTAGGTCCTCGGGGACAGG 0.587000 41 17 0 0 0.009718 0 0 KCTD8 386617 broad.mit.edu 37 4 44450425 44450425 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:44450425G>T ENST00000360029.3 - 1 399 c.116C>A c.(115-117)cCc>cAc p.P39H NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 39 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 GAAGGGCGAGGGTGCGCAggg 0.682000 HNSCC(17;0.042) 7 29 8.12818e-05 8.99624e-05 0.001984 1 0 ZNF862 643641 broad.mit.edu 37 7 149558392 149558392 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:149558392G>T ENST00000223210.4 + 7 2388 c.2143G>T c.(2143-2145)Gtc>Ttc p.V715F NM_001099220.1 NP_001092690.1 O60290 ZN862_HUMAN zinc finger protein 862 715 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|nucleic acid binding|protein dimerization activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1) 34 GTTCCAGGAGGTCATCCCGCA 0.647000 10 22 0.000442599 0.000475188 0.006214 1 0 TARS 6897 broad.mit.edu 37 5 33462206 33462206 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:33462206A>G ENST00000265112.3 + 16 2044 c.1733A>G c.(1732-1734)cAt>cGt p.H578R TARS_ENST00000541634.1_Missense_Mutation_p.H474R|TARS_ENST00000455217.2_Missense_Mutation_p.H611R|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000502553.1_Missense_Mutation_p.H578R|TARS_ENST00000414361.2_Missense_Mutation_p.H457R NM_152295.4 NP_689508.3 P26639 SYTC_HUMAN threonyl-tRNA synthetase 578 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) CTTTATAGCCATGATGGTGAT 0.358000 19 134 0 0 0.007413 0 0 MTRR 4552 broad.mit.edu 37 5 7878080 7878080 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:7878080G>T ENST00000264668.2 + 5 536 c.506G>T c.(505-507)tGg>tTg p.W169L MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000440940.2_Missense_Mutation_p.W142L|MTRR_ENST00000502509.1_3'UTR NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 169 Flavodoxin-like. methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) GTTGAGCCGTGGATTGCTGGA 0.473000 45 136 1.48526e-39 2.86541e-39 0.003610 1 0 ESYT2 57488 broad.mit.edu 37 7 158590748 158590748 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:158590748G>T ENST00000251527.5 - 3 601 c.536C>A c.(535-537)cCt>cAt p.P179H ESYT2_ENST00000497111.1_5'UTR NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 207 integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 GCAAATGAAAGGCCACATGTG 0.428000 11 26 2.80697e-09 3.61762e-09 0.010729 1 0 UNC79 57578 broad.mit.edu 37 14 94120109 94120109 + Silent SNP G G T rs142666714 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:94120109G>T ENST00000553484.1 + 38 6442 c.6288G>T c.(6286-6288)gcG>gcT p.A2096A UNC79_ENST00000555664.1_Silent_p.A2035A|UNC79_ENST00000393151.2_Silent_p.A2074A|UNC79_ENST00000256339.4_Silent_p.A1897A Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 2074 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 CCGGCAATGCGGCGGGGGTGG 0.532000 120 109 1.28113e-61 2.55005e-61 0.003610 1 0 NPAP1 23742 broad.mit.edu 37 15 24923267 24923267 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:24923267G>A ENST00000329468.2 + 1 2727 c.2253G>A c.(2251-2253)caG>caA p.Q751Q NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGCCTGCACAGTCAGTCAGGG 0.562000 84 63 0 0 0.003610 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38572906 38572906 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:38572906G>T ENST00000222345.6 + 3 1210 c.701G>T c.(700-702)gGg>gTg p.G234V NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 234 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GACGCCCGAGGGTGCCAGGCC 0.701000 16 63 3.41278e-10 4.50487e-10 0.004990 1 0 LAMC3 10319 broad.mit.edu 37 9 133942513 133942513 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:133942513C>A ENST00000361069.4 + 14 2647 c.2514C>A c.(2512-2514)acC>acA p.T838T LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 838 Laminin EGF-like 8. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGCACAACACCACGGGTGACC 0.642000 32 8 2.47316e-13 3.55251e-13 0.003271 1 0 FAM84A 151354 broad.mit.edu 37 2 14774171 14774171 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:14774171G>T ENST00000295092.2 + 2 356 c.68G>T c.(67-69)gGg>gTg p.G23V FAM84A_ENST00000331243.4_Missense_Mutation_p.G23V NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 23 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GACCCGTCGGGGATTGAAAAG 0.617000 10 20 2.17888e-05 2.47492e-05 0.006214 1 0 TOPBP1 11073 broad.mit.edu 37 3 133358846 133358846 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:133358846T>A ENST00000260810.5 - 13 2321 c.2190A>T c.(2188-2190)agA>agT p.R730S NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 730 BRCT 5. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 TTTCGTCTGCTCTCTTTCCCG 0.368000 Other conserved DNA damage response genes 16 30 0 0 0.006122 0 0 NFE2 4778 broad.mit.edu 37 12 54686778 54686778 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:54686778G>A ENST00000540264.2 - 2 1011 c.502C>T c.(502-504)Cgg>Tgg p.R168W NFE2_ENST00000435572.2_Missense_Mutation_p.R168W|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Missense_Mutation_p.R168W|NFE2_ENST00000312156.4_Missense_Mutation_p.R168W Q16621 NFE2_HUMAN nuclear factor, erythroid 2 168 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2) 16 TCGCTGCGCCGCCGACCAGCC 0.552000 57 77 0 0 0.003610 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217315567 217315567 + Splice_Site SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:217315567A>T ENST00000357276.4 + 12 2181 c.e12-1 SMARCAL1_ENST00000358207.5_Splice_Site NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) TGTTCTCTGCAGATGCCTTGG 0.612000 Schimke Immuno-Osseous Dysplasia 7 33 0 0 0.001984 0 0 MYOZ1 58529 broad.mit.edu 37 10 75397562 75397562 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:75397562C>A ENST00000359322.4 - 3 556 c.192G>T c.(190-192)caG>caT p.Q64H NM_021245.3 NP_067068.1 Q9NP98 MYOZ1_HUMAN myozenin 1 64 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CCACCCTCATCTGCCGCAGTT 0.488000 86 114 4.78148e-37 9.15417e-37 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179605447 179605447 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179605447C>A ENST00000589042.1 - 48 12737 c.12513G>T c.(12511-12513)gaG>gaT p.E4171D TTN_ENST00000591111.1_Missense_Mutation_p.E3854D|TTN_ENST00000359218.5_Missense_Mutation_p.E3933D|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3808D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E4000D NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3854 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) GTGTCTCAGGCTCTTCAGGCA 0.428000 43 45 1.47197e-15 2.26763e-15 0.007835 1 0 LINGO1 84894 broad.mit.edu 37 15 77906965 77906965 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:77906965G>C ENST00000355300.6 - 2 1458 c.1284C>G c.(1282-1284)gaC>gaG p.D428E LINGO1_ENST00000561030.1_Missense_Mutation_p.D422E NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 428 Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GGGCCTTGCGGTCCCGGATGC 0.672000 5 16 0 0 0.000602 0 0 LRP1B 53353 broad.mit.edu 37 2 141267567 141267567 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:141267567G>T ENST00000389484.3 - 52 9299 c.8328C>A c.(8326-8328)ccC>ccA p.P2776P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2776 LDL-receptor class A 17. 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) GCCAATGTCGGGGCACGCAGG 0.522000 TSP Lung(27;0.18) 27 126 1.39806e-14 2.10717e-14 0.008361 1 0 TNNI1 7135 broad.mit.edu 37 1 201382239 201382239 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:201382239C>T ENST00000361379.4 - 6 292 c.200G>A c.(199-201)cGg>cAg p.R67Q TNNI1_ENST00000555948.1_Missense_Mutation_p.R67Q|TNNI1_ENST00000336092.4_Missense_Mutation_p.R67Q|TNNI1_ENST00000367312.1_Missense_Mutation_p.R67Q NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 67 R -> W (in dbSNP:rs2296695). muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding p.R67L(2) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 GTGCAGCTCCCGGCACAGGTC 0.592000 77 289 0 0 0.003610 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767133 77767133 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:77767133G>T ENST00000521891.2 + 10 8424 c.7976G>T c.(7975-7977)cGg>cTg p.R2659L ZFHX4_ENST00000050961.6_Missense_Mutation_p.R2614L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R2614L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.R2633L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2614 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) ACACGAGCGCGGGAGAGGAAA 0.527000 HNSCC(33;0.089) 40 171 1.57019e-19 2.61144e-19 0.007835 1 0 KCNH3 23416 broad.mit.edu 37 12 49944096 49944096 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:49944096C>T ENST00000257981.6 + 10 2162 c.1902C>T c.(1900-1902)acC>acT p.T634T NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 634 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 AGGGTGGCACCGTGCTCGCCA 0.627000 37 48 0 0 0.009718 0 0 ZNF185 7739 broad.mit.edu 37 X 152083306 152083306 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:152083306G>A ENST00000535861.1 + 2 135 c.87G>A c.(85-87)atG>atA p.M29I ZNF185_ENST00000370268.4_Missense_Mutation_p.M29I|ZNF185_ENST00000318504.7_Missense_Mutation_p.M29I|ZNF185_ENST00000539731.1_Missense_Mutation_p.M29I|ZNF185_ENST00000449285.2_Missense_Mutation_p.M29I|ZNF185_ENST00000324823.6_5'UTR NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 29 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) TCAAGCAGATGAAAGTGCGAA 0.592000 9 6 0 0 0.006214 0 0 PC 5091 broad.mit.edu 37 11 66636436 66636436 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:66636436C>A ENST00000393960.1 - 10 1185 c.e10-1 PC_ENST00000393958.2_Splice_Site|PC_ENST00000355677.3_Splice_Site|PC_ENST00000393955.2_Splice_Site|PC_ENST00000524491.1_Splice_Site NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGTAGCCCACCTGTGGGGGCG 0.647000 42 55 1.59932e-28 2.93209e-28 0.007835 1 0 RGPD3 653489 broad.mit.edu 37 2 107040686 107040686 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:107040686G>T ENST00000409886.3 - 20 3824 c.3737C>A c.(3736-3738)aCa>aAa p.T1246K RGPD3_ENST00000304514.7_Missense_Mutation_p.T1246K NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1246 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCATTCTAATGTGGGCCCAGT 0.453000 126 131 8.174e-68 1.6348e-67 0.003610 1 0 DLGAP1 9229 broad.mit.edu 37 18 3534215 3534215 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:3534215C>A ENST00000315677.3 - 10 3051 c.2456G>T c.(2455-2457)cGg>cTg p.R819L DLGAP1_ENST00000539435.1_Missense_Mutation_p.R527L|DLGAP1_ENST00000515196.2_Missense_Mutation_p.R819L|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R503L|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R525L|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R535L|DLGAP1_ENST00000400145.2_Missense_Mutation_p.R517L|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R819L|DLGAP1_ENST00000400149.3_Missense_Mutation_p.R509L|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R525L NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 819 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) GTTGTTTTCCCGTTCTTCCCG 0.582000 37 34 1.49673e-21 2.57463e-21 0.006230 1 0 RASAL2 9462 broad.mit.edu 37 1 178427494 178427494 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:178427494G>C ENST00000448150.3 + 14 3852 c.3034G>C c.(3034-3036)Gcc>Ccc p.A1012P RASAL2_ENST00000462775.1_Missense_Mutation_p.A882P|RASAL2_ENST00000367649.3_Missense_Mutation_p.A1023P NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 882 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 AGGTGCCCGAGCCAAAGCCCC 0.582000 31 25 0 0 0.010818 0 0 KNG1 3827 broad.mit.edu 37 3 186437939 186437939 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:186437939G>T ENST00000265023.4 + 2 453 c.241G>T c.(241-243)Ggg>Tgg p.G81W KNG1_ENST00000287611.2_Missense_Mutation_p.G81W|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.G81W NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 81 Cystatin 1. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) AATCAAGGAGGGGGATTGTCC 0.448000 18 33 8.00594e-06 9.27004e-06 0.007413 1 0 PCSK9 255738 broad.mit.edu 37 1 55512290 55512290 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:55512290G>T ENST00000302118.5 + 3 784 c.494G>T c.(493-495)cGg>cTg p.R165L PCSK9_ENST00000452118.2_Missense_Mutation_p.R165L|PCSK9_ENST00000543384.1_Intron NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 165 Peptidase S8. cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 ACCCCTCCACGGTACCGGGCG 0.617000 15 18 2.23348e-06 2.64725e-06 0.004007 1 0 XIRP2 129446 broad.mit.edu 37 2 168101897 168101897 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:168101897A>G ENST00000409195.1 + 9 4084 c.3995A>G c.(3994-3996)cAt>cGt p.H1332R XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H1332R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H1110R|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 1157 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 GGGTCCTATCATGAAGTGACC 0.383000 11 33 0 0 0.008291 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47424817 47424817 + Missense_Mutation SNP G G C rs140857154 by1000genomes TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:47424817G>C ENST00000404338.3 + 1 2885 c.2885G>C c.(2884-2886)aGc>aCc p.S962T NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 962 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity GAGGCCTGTAGCACCACCGAA 0.463000 3 35 0 0 0.004672 0 0 KALRN 8997 broad.mit.edu 37 3 124431918 124431918 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:124431918C>T ENST00000360013.3 + 58 8339 c.8212C>T c.(8212-8214)Ccc>Tcc p.P2738S KALRN_ENST00000291478.4_Missense_Mutation_p.P1041S|KALRN_ENST00000428018.2_Missense_Mutation_p.P1009S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 2737 Protein kinase. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CCTACAGCACCCCCAGTACAT 0.498000 21 87 0 0 0.002299 0 0 FAM131C 348487 broad.mit.edu 37 1 16385088 16385088 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:16385088G>C ENST00000375662.4 - 7 870 c.687C>G c.(685-687)agC>agG p.S229R FAM131C_ENST00000494078.1_5'UTR NM_182623.2 NP_872429.2 Q96AQ9 F131C_HUMAN family with sequence similarity 131, member C 229 Pro-rich. large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TGCCAGCGGTGCTGGGGGGCT 0.736000 3 12 0 0 0.004672 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77191245 77191245 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:77191245G>T ENST00000426126.2 + 2 774 c.125G>T c.(124-126)gGa>gTa p.G42V ZDHHC17_ENST00000359019.4_Intron|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.G42V NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 42 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 TATAACCATGGATATGGTGAA 0.343000 12 12 6.72482e-11 9.04821e-11 0.003163 1 0 CHAT 1103 broad.mit.edu 37 10 50857553 50857553 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:50857553G>T ENST00000395562.2 + 11 1605 c.e11-1 CHAT_ENST00000395559.2_Splice_Site|CHAT_ENST00000351556.3_Splice_Site|CHAT_ENST00000455728.2_Splice_Site|CHAT_ENST00000339797.1_Splice_Site|CHAT_ENST00000337653.2_Splice_Site NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TGTGCCCGCAGGACGCAGAGC 0.617000 16 6 1.5739e-10 2.09075e-10 0.004007 1 0 TAS2R30 259293 broad.mit.edu 37 12 11286404 11286404 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:11286404A>C ENST00000539585.1 - 1 839 c.440T>G c.(439-441)aTa>aGa p.I147R TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_001097643.1 NP_001091112.1 taste receptor, type 2, member 30 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 ATCCATGTTTATCACAAAAAG 0.373000 30 135 0 0 0.009535 0 0 PCLO 27445 broad.mit.edu 37 7 82453732 82453732 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:82453732C>A ENST00000423517.2 - 19 14753 c.14415_splice c.e19-1 p.V4806_splice PCLO_ENST00000333891.8_Splice_Site_p.V4806_splice|PCLO_ENST00000426442.2_5'UTR NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4668 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 TCAATCAATACCTGAAAAAAA 0.313000 12 12 0.00010058 0.00011093 0.001368 1 0 RFPL2 10739 broad.mit.edu 37 22 32589152 32589152 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:32589152G>T ENST00000400236.3 - 4 1228 c.23C>A c.(22-24)gCa>gAa p.A8E RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Missense_Mutation_p.A8E|RFPL2_ENST00000400237.1_Missense_Mutation_p.A98E|RFPL2_ENST00000248980.4_Missense_Mutation_p.A37E NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 98 zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 ACAGCTGCTTGCTTCTTGGAA 0.483000 59 9 7.10663e-31 1.32221e-30 0.003610 1 0 RPGRIP1 57096 broad.mit.edu 37 14 21769237 21769237 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:21769237C>A ENST00000206660.6 + 3 331 c.331C>A c.(331-333)Cag>Aag p.Q111K RPGRIP1_ENST00000400017.2_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.Q111K|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.Q111K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 111 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) GGGATGGCGGCAGCGCCTCTC 0.741000 7 25 2.0095e-06 2.39081e-06 0.001984 1 0 ETV3L 440695 broad.mit.edu 37 1 157062832 157062832 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:157062832A>T ENST00000454449.2 - 5 979 c.695T>A c.(694-696)tTc>tAc p.F232Y NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 232 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGGAGGAGTGAAGGAGGCAAC 0.647000 7 3 0 0 0.001984 0 0 PKHD1 5314 broad.mit.edu 37 6 51774135 51774135 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:51774135C>G ENST00000371117.3 - 40 6903 c.6628G>C c.(6628-6630)Ggg>Cgg p.G2210R PKHD1_ENST00000340994.4_Missense_Mutation_p.G2210R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2210 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AAGGCTTGCCCCAAGACTTGA 0.532000 51 56 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179423219 179423219 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179423219C>A ENST00000589042.1 - 327 87191 c.86967G>T c.(86965-86967)tgG>tgT p.W28989C TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W27348C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20049C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W19924C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26421C|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W20116C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27348 Fibronectin type-III 111. 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) CACATTTAACCCAGTTTTTCT 0.448000 9 34 0.000274275 0.000296245 0.004482 1 0 RGS2 5997 broad.mit.edu 37 1 192779316 192779316 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:192779316G>T ENST00000235382.5 + 2 162 c.131G>T c.(130-132)cGt>cTt p.R44L RGS2_ENST00000483295.1_3'UTR NM_002923.3 NP_002914.1 P41220 RGS2_HUMAN regulator of G-protein signaling 2, 24kDa 44 Necessary for membrane association. cell cycle|negative regulation of cardiac muscle hypertrophy|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of MAP kinase activity|negative regulation of phospholipase activity|positive regulation of cardiac muscle contraction|regulation of adrenergic receptor signaling pathway|regulation of translation|relaxation of cardiac muscle cytosol|internal side of plasma membrane|mitochondrion|nucleolus calmodulin binding|GTPase activator activity|signal transducer activity large_intestine(3)|lung(1)|urinary_tract(1) 5 TGGAAGACCCGTTTGAGCTAC 0.358000 14 20 3.27435e-08 4.09376e-08 0.002450 1 0 KRT6C 286887 broad.mit.edu 37 12 52865270 52865270 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52865270C>T ENST00000252250.6 - 4 894 c.847G>A c.(847-849)Gaa>Aaa p.E283K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 283 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) GCTTGCAGTTCAACCTTGTTC 0.483000 33 57 0 0 0.003271 0 0 DECR2 26063 broad.mit.edu 37 16 461425 461425 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:461425G>C ENST00000219481.5 + 8 864 c.726G>C c.(724-726)aaG>aaC p.K242N DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Missense_Mutation_p.K230N NM_020664.3 NP_065715.1 Q9NUI1 DECR2_HUMAN 2,4-dienoyl CoA reductase 2, peroxisomal 242 peroxisome 2,4-dienoyl-CoA reductase (NADPH) activity|binding central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4) 9 Hepatocellular(16;0.00015) TGGGGAACAAGACCGAGATCG 0.687000 25 6 0 0 0.003330 0 0 BRINP3 339479 broad.mit.edu 37 1 190203589 190203589 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:190203589C>T ENST00000367462.3 - 5 868 c.637G>A c.(637-639)Ggt>Agt p.G213S FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G111S NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 213 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) CCAAGAGGACCAGTCCGTGTT 0.388000 5 44 0 0 0.000602 0 0 FAM171A1 221061 broad.mit.edu 37 10 15256192 15256192 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:15256192G>T ENST00000378116.4 - 8 1401 c.1395C>A c.(1393-1395)ccC>ccA p.P465P FAM171A1_ENST00000477161.1_5'UTR NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 465 P -> S (in dbSNP:rs3814165). 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 TTGCCTTTAAGGGAAAAACCT 0.463000 18 12 3.70931e-20 6.21856e-20 0.006122 1 0 OR2G6 391211 broad.mit.edu 37 1 248685360 248685360 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:248685360C>A ENST00000343414.4 + 1 445 c.413C>A c.(412-414)cCc>cAc p.P138H NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTATGCACCCCAGGTTCTGT 0.587000 26 31 9.57634e-11 1.28161e-10 0.003330 1 0 TSPEAR 54084 broad.mit.edu 37 21 45947323 45947323 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr21:45947323C>A ENST00000323084.4 - 7 1066 c.1001G>T c.(1000-1002)cGc>cTc p.R334L TSPEAR_ENST00000397916.1_Missense_Mutation_p.R266L NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 334 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CTGAGGGATGCGGAACACCTC 0.522000 46 11 9.84934e-19 1.62088e-18 0.010771 1 0 FGFR1OP 11116 broad.mit.edu 37 6 167413566 167413566 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:167413566G>C ENST00000366847.3 + 2 352 c.121G>C c.(121-123)Gtg>Ctg p.V41L FGFR1OP_ENST00000349556.4_Missense_Mutation_p.V41L|FGFR1OP_ENST00000476078.1_3'UTR NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 41 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) CCGAGCAGCTGTGTTTTTAGC 0.318000 T FGFR1 """MPD, NHL""" 13 5 0 0 0.003163 0 0 CALCRL 10203 broad.mit.edu 37 2 188243735 188243735 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:188243735C>A ENST00000409998.1 - 9 1213 c.432G>T c.(430-432)ctG>ctT p.L144L CALCRL_ENST00000392370.3_Silent_p.L144L|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Silent_p.L144L|AC007319.1_ENST00000412276.1_RNA Q16602 CALRL_HUMAN calcitonin receptor-like 144 L -> Q (in Ref. 4; BAF84319). integral to plasma membrane endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1) 32 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) CAATTATGGTCAGGTAAAACA 0.289000 14 40 6.94344e-10 9.06043e-10 0.006122 1 0 OR4K13 390433 broad.mit.edu 37 14 20502451 20502451 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:20502451G>T ENST00000315693.2 - 1 468 c.467C>A c.(466-468)tCa>tAa p.S156* NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 156 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) TTGACTAGATGAGTGCACAAA 0.463000 32 50 1.74807e-11 2.38269e-11 0.010818 1 0 CCDC80 151887 broad.mit.edu 37 3 112337825 112337825 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:112337825A>T ENST00000206423.3 - 4 3115 c.2162T>A c.(2161-2163)cTg>cAg p.L721Q CCDC80_ENST00000439685.2_Missense_Mutation_p.L721Q NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 721 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 CTTGACTCTCAGATCCACATC 0.388000 45 44 0 0 0.003610 0 0 OR2A14 135941 broad.mit.edu 37 7 143826988 143826988 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:143826988C>A ENST00000408899.2 + 1 838 c.783C>A c.(781-783)ccC>ccA p.P261P NM_001001659.1 NP_001001659.1 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, member 14 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(17)|skin(1) 22 Melanoma(164;0.0783) ACATGGCCCCCAAGTCCCGCC 0.547000 89 75 5.02048e-33 9.46719e-33 0.003610 1 0 ST8SIA1 6489 broad.mit.edu 37 12 22402033 22402033 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:22402033C>A ENST00000396037.4 - 4 973 c.e4-1 ST8SIA1_ENST00000539510.1_Splice_Site NM_003034.3 NP_003025.1 Q92185 SIA8A_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 GAGATTGCATCTAGAGAAACA 0.338000 34 7 1.74807e-11 2.38269e-11 0.010818 1 0 ZDBF2 57683 broad.mit.edu 37 2 207176280 207176280 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:207176280G>A ENST00000374423.3 + 5 7414 c.7028G>A c.(7027-7029)cGg>cAg p.R2343Q NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2343 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 ATGATGACTCGGCTAGCAAAC 0.408000 6 22 0 0 0.001168 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90576933 90576933 + RNA SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:90576933A>T ENST00000551025.1 + 0 5361 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TGAGTGATGCACAAATGGGTG 0.398000 40 17 0 0 0.007835 0 0 GRHPR 9380 broad.mit.edu 37 9 37424918 37424918 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:37424918G>T ENST00000607784.1 + 2 165 c.160G>T c.(160-162)Ggc>Tgc p.G54C GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Missense_Mutation_p.G54C Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 54 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GBM - Glioblastoma multiforme(29;0.00687) GGGGGCCCACGGCCTGCTCTG 0.667000 13 23 6.31663e-08 7.8504e-08 0.003163 1 0 TMEM47 83604 broad.mit.edu 37 X 34675043 34675043 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:34675043A>T ENST00000275954.3 - 1 362 c.104T>A c.(103-105)cTg>cAg p.L35Q NM_031442.3 NP_113630.1 Q9BQJ4 TMM47_HUMAN transmembrane protein 47 35 integral to membrane breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 CACCGCCCCCAGGTCCAGACA 0.667000 7 0 0 0 0.003080 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480640 140480640 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:140480640A>T ENST00000231130.2 + 1 407 c.407A>T c.(406-408)aAt>aTt p.N136I AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 136 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) TTCTTTGAAAATGAAATGCAT 0.393000 35 15 0 0 0.003271 0 0 PRNP 5621 broad.mit.edu 37 20 4679880 4679880 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:4679880G>C ENST00000379440.4 + 2 301 c.14G>C c.(13-15)gGc>gCc p.G5A PRNP_ENST00000430350.2_Missense_Mutation_p.G5A NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2 NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1 P04156 PRIO_HUMAN prion protein 5 axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) GCGAACCTTGGCTGCTGGATG 0.498000 31 64 0 0 0.003755 0 0 C11orf48 79081 broad.mit.edu 37 11 62430601 62430601 + Nonstop_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:62430601C>G ENST00000431002.2 - 5 2603 c.870G>C c.(868-870)taG>taC p.*290Y C11orf48_ENST00000524958.1_Missense_Mutation_p.S98T|RP11-831H9.11_ENST00000528405.1_Intron|C11orf48_ENST00000525675.1_Nonstop_Mutation_p.*123Y|C11orf48_ENST00000532208.1_Nonstop_Mutation_p.*264Y|C11orf48_ENST00000354588.3_Nonstop_Mutation_p.*264Y Q9BQE6 CK048_HUMAN chromosome 11 open reading frame 48 0 endometrium(1)|lung(5)|urinary_tract(1) 7 CTGTGGTTCACTAGTCCTGGC 0.473000 29 32 0 0 0.012213 0 0 NPAP1 23742 broad.mit.edu 37 15 24923831 24923831 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:24923831C>A ENST00000329468.2 + 1 3291 c.2817C>A c.(2815-2817)agC>agA p.S939R NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TGAGTGGCAGCATAATTCCAC 0.488000 20 70 4.35082e-09 5.58436e-09 0.010504 1 0 NAV3 89795 broad.mit.edu 37 12 78515962 78515962 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:78515962C>A ENST00000397909.2 + 16 4165 c.3992C>A c.(3991-3993)tCc>tAc p.S1331Y NAV3_ENST00000228327.6_Missense_Mutation_p.S1331Y|NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_Missense_Mutation_p.S1331Y Q8IVL0 NAV3_HUMAN neuron navigator 3 1331 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCGTTGGCCTCCAGCCCAGCA 0.532000 HNSCC(70;0.22) 36 54 1.03484e-13 1.51069e-13 0.005524 1 0 FMO1 2326 broad.mit.edu 37 1 171249944 171249944 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:171249944G>C ENST00000354841.4 + 5 778 c.647G>C c.(646-648)gGa>gCa p.G216A FMO1_ENST00000367750.3_Missense_Mutation_p.G216A|FMO1_ENST00000402921.2_Missense_Mutation_p.G153A|FMO1_ENST00000469112.1_3'UTR Q01740 FMO1_HUMAN flavin containing monooxygenase 1 216 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGCACCACCGGAGGGGGATGG 0.512000 13 40 0 0 0.002450 0 0 CCDC63 160762 broad.mit.edu 37 12 111345233 111345233 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:111345233C>T ENST00000308208.5 + 12 1887 c.1645C>T c.(1645-1647)Cct>Tct p.P549S CCDC63_ENST00000552694.1_Missense_Mutation_p.P470S|CCDC63_ENST00000545036.1_Missense_Mutation_p.P509S NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 549 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 AGACAGCCTGCCTGAGAAGGT 0.502000 23 48 0 0 0.002780 0 0 CRYBG3 131544 broad.mit.edu 37 3 97599971 97599971 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:97599971G>T ENST00000182096.4 + 4 1280 c.1216G>T c.(1216-1218)Ggg>Tgg p.G406W NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 GCTAGAAGAAGGGGAAAAGGT 0.353000 12 11 0.000978159 0.00104215 0.010729 1 0 TCEAL5 340543 broad.mit.edu 37 X 102528906 102528906 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:102528906C>A ENST00000372680.1 - 3 880 c.586G>T c.(586-588)Ggc>Tgc p.G196C NM_001012979.2 NP_001012997.1 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TCTTTCTGGCCCCTACCTCCG 0.493000 50 21 6.34439e-16 9.92003e-16 0.003610 1 0 SLC22A12 116085 broad.mit.edu 37 11 64368221 64368221 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:64368221G>T ENST00000377574.1 + 9 2156 c.1409G>T c.(1408-1410)gGc>gTc p.G470V SLC22A12_ENST00000336464.7_Missense_Mutation_p.G436V|SLC22A12_ENST00000377572.1_Missense_Mutation_p.G362V|SLC22A12_ENST00000473690.1_Missense_Mutation_p.G249V|SLC22A12_ENST00000377567.2_Missense_Mutation_p.G362V NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 470 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 ACGGCAGTGGGCTTGGGCCAG 0.672000 12 59 4.3838e-07 5.35798e-07 0.001855 1 0 NR4A1 3164 broad.mit.edu 37 12 52452475 52452475 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52452475G>C ENST00000545748.1 + 8 2701 c.1706G>C c.(1705-1707)cGg>cCg p.R569P NR4A1_ENST00000360284.3_Missense_Mutation_p.R528P|NR4A1_ENST00000394825.1_Missense_Mutation_p.R515P|NR4A1_ENST00000550082.1_Missense_Mutation_p.R528P|NR4A1_ENST00000394824.2_Missense_Mutation_p.R515P|NR4A1_ENST00000243050.1_Missense_Mutation_p.R515P P22736 NR4A1_HUMAN nuclear receptor subfamily 4, group A, member 1 515 nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2) 16 BRCA - Breast invasive adenocarcinoma(357;0.0967) CCCGCAGACCGGCATGGGCTG 0.677000 7 10 0 0 0.001984 0 0 ZNF136 7695 broad.mit.edu 37 19 12298427 12298427 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:12298427A>T ENST00000343979.4 + 4 1374 c.1234A>T c.(1234-1236)Aga>Tga p.R412* ZNF136_ENST00000398616.2_Nonsense_Mutation_p.R346* NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 412 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 AATACATGAAAGAACTCACAC 0.363000 18 7 0 0 0.006122 0 0 EIF4E2 9470 broad.mit.edu 37 2 233431634 233431634 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:233431634G>T ENST00000409514.1 + 5 513 c.471G>T c.(469-471)ggG>ggT p.G157G EIF4E2_ENST00000258416.3_Silent_p.G157G|EIF4E2_ENST00000409167.3_Silent_p.G112G|EIF4E2_ENST00000409098.1_Silent_p.G157G|EIF4E2_ENST00000409394.1_Silent_p.G112G|EIF4E2_ENST00000409322.1_Silent_p.G112G|EIF4E2_ENST00000409495.1_Silent_p.G157G O60573 IF4E2_HUMAN eukaryotic translation initiation factor 4E family member 2 157 EIF4EBP1/2/3 binding. regulation of translation cytoplasm|mRNA cap binding complex RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(2)|lung(3) 8 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCATGCTGGGGGAACAGTTCA 0.532000 17 45 5.35267e-07 6.53578e-07 0.007413 1 0 NRCAM 4897 broad.mit.edu 37 7 107818538 107818538 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:107818538A>T ENST00000379028.3 - 26 3341 c.2871T>A c.(2869-2871)tcT>tcA p.S957S NRCAM_ENST00000425651.2_Silent_p.S957S|NRCAM_ENST00000351718.4_Silent_p.S941S|NRCAM_ENST00000413765.2_Silent_p.S938S|NRCAM_ENST00000379022.4_Silent_p.S957S|NRCAM_ENST00000379024.4_Silent_p.S938S Q92823 NRCAM_HUMAN neuronal cell adhesion molecule 957 Fibronectin type-III 4. angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 65 CAATCTTCAAAGACGAGGGAG 0.438000 26 7 0 0 0.004656 0 0 C14orf105 55195 broad.mit.edu 37 14 57957781 57957781 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:57957781C>T ENST00000216445.3 - 2 368 c.232G>A c.(232-234)Gac>Aac p.D78N C14orf105_ENST00000534126.1_Missense_Mutation_p.D78N|C14orf105_ENST00000526336.1_Missense_Mutation_p.D78N|C14orf105_ENST00000422976.2_Missense_Mutation_p.D78N NM_018168.2 NP_060638.2 Q9NVL8 CN105_HUMAN chromosome 14 open reading frame 105 78 breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1) 11 AAATACATGTCTCTGGATGCT 0.333000 9 40 0 0 0.008291 0 0 SLC2A10 81031 broad.mit.edu 37 20 45355581 45355581 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:45355581G>T ENST00000359271.2 + 3 1617 c.1367G>T c.(1366-1368)tGg>tTg p.W456L NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 456 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) AGCTTCAACTGGGCGGCCAAC 0.552000 74 38 1.74474e-33 3.31e-33 0.003610 1 0 OR51D1 390038 broad.mit.edu 37 11 4661045 4661045 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:4661045C>T ENST00000357605.2 + 1 101 c.25C>T c.(25-27)Cct>Tct p.P9S NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 9 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) GCTCTTGGTCCCTATCATAGC 0.478000 31 76 0 0 0.010818 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881413 228881413 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:228881413G>T ENST00000392056.3 - 7 4203 c.4157C>A c.(4156-4158)tCt>tAt p.S1386Y SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1386Y NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1386 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) TTTGCTCAAAGATGACACTGG 0.483000 20 55 2.37509e-13 3.41948e-13 0.010504 1 0 VSIG2 23584 broad.mit.edu 37 11 124621372 124621372 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:124621372C>A ENST00000403470.1 - 2 221 c.166G>T c.(166-168)Gcc>Tcc p.A56S VSIG2_ENST00000326621.5_Missense_Mutation_p.A56S Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 56 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|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;0.0215) CACTCCAGGGCGAAGCTGTCT 0.632000 20 43 1.00905e-13 1.47476e-13 0.008871 1 0 FANCG 2189 broad.mit.edu 37 9 35074939 35074939 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:35074939C>A ENST00000378643.3 - 12 2112 c.1621G>T c.(1621-1623)Gtg>Ttg p.V541L FANCG_ENST00000476212.1_Intron NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 541 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CACATCTGCACACTGAGGAGG 0.542000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 23 90 4.16121e-05 4.65077e-05 0.002780 1 0 AEBP2 121536 broad.mit.edu 37 12 19646919 19646919 + Splice_Site SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:19646919A>G ENST00000266508.9 + 4 1174 c.1174_splice c.e4+1 p.L391_splice AEBP2_ENST00000360995.4_Splice_Site_p.L175_splice|AEBP2_ENST00000541908.1_Splice_Site_p.L162_splice|AEBP2_ENST00000398864.3_Splice_Site_p.L391_splice NM_153207.4 NP_694939.2 Q6ZN18 AEBP2_HUMAN AE binding protein 2 391 Interaction with SUZ12. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143) GACGCTCATTACGTAAGTGTT 0.358000 7 7 0 0 0.003080 0 0 FAM133B 257415 broad.mit.edu 37 7 92210862 92210862 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:92210862C>A ENST00000438306.1 - 3 280 c.50G>T c.(49-51)gGg>gTg p.G17V FAM133B_ENST00000427372.1_Missense_Mutation_p.G17V|FAM133B_ENST00000445716.1_Missense_Mutation_p.G27V NM_001040057.1 NP_001035146.1 Q5BKY9 F133B_HUMAN family with sequence similarity 133, member B 27 endometrium(1)|large_intestine(1)|ovary(1)|upper_aerodigestive_tract(1) 4 all_cancers(62;7.39e-11)|all_epithelial(64;7.03e-10)|Breast(17;0.00201)|all_lung(186;0.0384)|Lung NSC(181;0.053)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;9.78e-06)|all cancers(6;1.67e-05)|Epithelial(20;0.113)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TATTGTTGGCCCTGAAGACTG 0.373000 6 38 5.18039e-06 6.05425e-06 0.003080 1 0 TPH2 121278 broad.mit.edu 37 12 72388295 72388295 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:72388295G>A ENST00000333850.3 + 8 1159 c.1018G>A c.(1018-1020)Ggt>Agt p.G340S NM_173353.3 NP_775489.2 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 340 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 41 L-Tryptophan(DB00150) ACAAGAAATAGGTCTGGCGTC 0.413000 40 40 0 0 0.006230 0 0 TTN 7273 broad.mit.edu 37 2 179606420 179606420 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179606420G>T ENST00000589042.1 - 48 11764 c.11540C>A c.(11539-11541)cCc>cAc p.P3847H TTN_ENST00000591111.1_Missense_Mutation_p.P3530H|TTN_ENST00000359218.5_Missense_Mutation_p.P3609H|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P3484H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P3676H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3530 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) TTTAGGTTTGGGGATGCCAAT 0.418000 17 71 6.94344e-10 9.06043e-10 0.006122 1 0 ZNF467 168544 broad.mit.edu 37 7 149462853 149462853 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:149462853G>A ENST00000302017.3 - 5 1151 c.738C>T c.(736-738)tgC>tgT p.C246C ZNF467_ENST00000484747.1_Intron NM_207336.1 NP_997219.1 Q7Z7K2 ZN467_HUMAN zinc finger protein 467 246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CGCACTCCGCGCACGGGTAGG 0.677000 4 23 0 0 0.000602 0 0 SZT2 23334 broad.mit.edu 37 1 43886870 43886870 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:43886870G>T ENST00000562955.1 + 11 1522 c.1522G>T c.(1522-1524)Gcc>Tcc p.A508S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 508 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CCAGATGCTTGCCCACCTTCA 0.567000 72 9 5.29578e-48 1.03602e-47 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179616287 179616287 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179616287C>A ENST00000360870.5 - 46 11062 c.10840G>T c.(10840-10842)Gaa>Taa p.E3614* TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9474 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) TGTGTCCGTTCTGCTCTTTTC 0.383000 17 109 1.15088e-07 1.42187e-07 0.004007 1 0 VNN2 8875 broad.mit.edu 37 6 133073888 133073888 + Splice_Site SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:133073888A>C ENST00000326499.6 - 4 662 c.537_splice c.e4-1 p.Y180_splice VNN2_ENST00000525289.1_Intron|VNN2_ENST00000525270.1_Splice_Site_p.Y127_splice|RP1-55C23.7_ENST00000430895.1_RNA NM_004665.2 NP_004656.2 O95498 VNN2_HUMAN vanin 2 180 CN hydrolase. 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) TACAGGTGGTACTACAACAAA 0.408000 26 38 0 0 0.004656 0 0 SMIM19 114926 broad.mit.edu 37 8 42401673 42401673 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:42401673G>A ENST00000438528.3 + 2 107 c.58G>A c.(58-60)Gaa>Aaa p.E20K SMIM19_ENST00000417410.2_Missense_Mutation_p.E20K|SMIM19_ENST00000490331.2_Missense_Mutation_p.E20K|SMIM19_ENST00000414154.2_Missense_Mutation_p.E20K|SMIM19_ENST00000529505.1_3'UTR|SMIM19_ENST00000416469.2_Missense_Mutation_p.E20K NM_001135676.1 NP_001129148.1 small integral membrane protein 19 TACTGTTCACGAAGCCTGGAA 0.408000 19 25 0 0 0.012319 0 0 DNAJB4 11080 broad.mit.edu 37 1 78481780 78481780 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:78481780G>T ENST00000370763.5 + 3 1120 c.863G>T c.(862-864)gGa>gTa p.G288V GIPC2_ENST00000476882.1_Intron|DNAJB4_ENST00000487931.1_3'UTR NM_007034.3 NP_008965.2 Q9UDY4 DNJB4_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 4 288 protein folding|response to heat|response to unfolded protein cytoplasm|plasma membrane heat shock protein binding|unfolded protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GTGAAACCCGGAATGAGGAGA 0.398000 10 14 0.000442599 0.000475188 0.006214 1 0 ZNF577 84765 broad.mit.edu 37 19 52376759 52376759 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:52376759C>A ENST00000420592.1 - 6 1640 c.307G>T c.(307-309)Gtg>Ttg p.V103L ZNF577_ENST00000451628.2_Missense_Mutation_p.V103L|ZNF577_ENST00000301399.5_Missense_Mutation_p.V162L|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron Q9BSK1 ZN577_HUMAN zinc finger protein 577 162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 21 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019) CTCCCGCACACACTGCATTCA 0.443000 64 16 5.10652e-33 9.61498e-33 0.003610 1 0 CDH20 28316 broad.mit.edu 37 18 59203832 59203832 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:59203832C>A ENST00000262717.4 + 8 1776 c.1378C>A c.(1378-1380)Cat>Aat p.H460N CDH20_ENST00000538374.1_Missense_Mutation_p.H460N|CDH20_ENST00000536675.2_Missense_Mutation_p.H460N Q9HBT6 CAD20_HUMAN cadherin 20, type 2 460 Cadherin 4. 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) ATTTTCTTGGCATAATATCAC 0.403000 9 63 0.00448238 0.00470763 0.004482 1 0 HEPACAM2 253012 broad.mit.edu 37 7 92848567 92848567 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:92848567C>G ENST00000394468.2 - 2 354 c.277G>C c.(277-279)Gaa>Caa p.E93Q HEPACAM2_ENST00000440868.1_Missense_Mutation_p.E81Q|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.E116Q|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.E81Q NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 93 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TGTTGGTATTCCAAGTCAGGA 0.458000 23 35 0 0 0.002299 0 0 IWS1 55677 broad.mit.edu 37 2 128262644 128262644 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:128262644C>G ENST00000295321.4 - 3 1094 c.835G>C c.(835-837)Gag>Cag p.E279Q IWS1_ENST00000455721.2_Missense_Mutation_p.E286Q|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 279 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GGGGGATCCTCACTTTCCGAA 0.552000 88 105 0 0 0.003610 0 0 MAGI2 9863 broad.mit.edu 37 7 77789350 77789350 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:77789350G>T ENST00000354212.4 - 16 3090 c.2837C>A c.(2836-2838)tCc>tAc p.S946Y MAGI2_ENST00000522391.1_Missense_Mutation_p.S946Y|MAGI2_ENST00000419488.1_Missense_Mutation_p.S932Y NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 946 PDZ 5. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) ACTTATAGTGGATCCAGACTC 0.463000 15 29 1.49906e-05 1.71204e-05 0.002450 1 0 OR51A2 401667 broad.mit.edu 37 11 4976505 4976505 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:4976505C>A ENST00000380371.1 - 1 438 c.439G>T c.(439-441)Ggg>Tgg p.G147W MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATACTATCCCTATTTGGGCA 0.423000 20 7 1.08312e-15 1.6727e-15 0.009535 1 0 TTN 7273 broad.mit.edu 37 2 179432053 179432053 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179432053G>A ENST00000589042.1 - 326 79030 c.78806C>T c.(78805-78807)tCc>tTc p.S26269F TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S24628F|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S17329F|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S17204F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S23701F|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S17396F NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 24628 Fibronectin type-III 91. 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) TGCAACATTGGAAGCTCTTAA 0.383000 54 204 0 0 0.003610 0 0 OR5D14 219436 broad.mit.edu 37 11 55563407 55563407 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:55563407G>T ENST00000335605.1 + 1 376 c.376G>T c.(376-378)Gtg>Ttg p.V126L NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGACCGCTTTGTGGCCATCTG 0.527000 32 18 2.61193e-14 3.88998e-14 0.009535 1 0 CSMD2 114784 broad.mit.edu 37 1 34192228 34192228 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:34192228A>T ENST00000373381.4 - 16 2603 c.2427T>A c.(2425-2427)ccT>ccA p.P809P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 769 CUB 5. 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) TGTAGAAGCCAGGCCAGCCCG 0.597000 27 19 0 0 0.006320 0 0 PKHD1 5314 broad.mit.edu 37 6 51613290 51613290 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:51613290T>C ENST00000371117.3 - 58 9399 c.9124A>G c.(9124-9126)Att>Gtt p.I3042V PKHD1_ENST00000340994.4_Missense_Mutation_p.I3042V NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3042 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCAAACACAATATTGTCATTT 0.493000 17 49 0 0 0.004007 0 0 ILDR2 387597 broad.mit.edu 37 1 166904587 166904587 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:166904587C>A ENST00000271417.3 - 6 886 c.831G>T c.(829-831)ccG>ccT p.P277P ILDR2_ENST00000528703.1_Intron|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000526687.1_Intron|ILDR2_ENST00000529071.1_Silent_p.P258P|ILDR2_ENST00000525740.1_Intron|ILDR2_ENST00000469934.2_Silent_p.P277P NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 277 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 GAGGTGGATGCGGCTTGTCCA 0.622000 38 46 6.2361e-21 1.05963e-20 0.007835 1 0 HDAC9 9734 broad.mit.edu 37 7 18688206 18688206 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:18688206C>A ENST00000406451.3 + 11 1508 c.1358C>A c.(1357-1359)cCt>cAt p.P453H HDAC9_ENST00000441542.2_Missense_Mutation_p.P456H|HDAC9_ENST00000406072.1_Missense_Mutation_p.P440H|HDAC9_ENST00000432645.2_Missense_Mutation_p.P453H|HDAC9_ENST00000405010.3_Missense_Mutation_p.P453H|HDAC9_ENST00000456174.2_Missense_Mutation_p.P425H|HDAC9_ENST00000401921.1_Missense_Mutation_p.P412H|HDAC9_ENST00000428307.2_Missense_Mutation_p.P409H|HDAC9_ENST00000524023.1_Missense_Mutation_p.P376H|HDAC9_ENST00000417496.2_Missense_Mutation_p.P451H NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 453 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) CAGTCTGCACCTTTGCCTCAG 0.507000 52 22 7.05377e-20 1.17782e-19 0.003610 1 0 TNFRSF8 943 broad.mit.edu 37 1 12144554 12144554 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:12144554C>A ENST00000263932.2 + 2 319 c.97C>A c.(97-99)Ccc>Acc p.P33T TNFRSF8_ENST00000417814.2_Intron NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 33 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TCATGGAAACCCCAGCCACTA 0.592000 12 76 7.93312e-07 9.57472e-07 0.002450 1 0 TRIM10 10107 broad.mit.edu 37 6 30121889 30121889 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:30121889G>C ENST00000449742.2 - 7 1378 c.1303C>G c.(1303-1305)Ctt>Gtt p.L435V TRIM10_ENST00000376704.3_Intron NM_006778.3 NP_006769.2 Q9UDY6 TRI10_HUMAN tripartite motif containing 10 435 B30.2/SPRY. cytoplasm zinc ion binding ovary(1) 1 TCATAGTCAAGAGACACCCTC 0.612000 21 17 0 0 0.012319 0 0 CPLX2 10814 broad.mit.edu 37 5 175306040 175306040 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:175306040G>C ENST00000359546.4 + 4 804 c.161G>C c.(160-162)cGc>cCc p.R54P CPLX2_ENST00000393745.3_Missense_Mutation_p.R54P|CPLX2_ENST00000515094.1_Missense_Mutation_p.R54P|CPLX2_ENST00000512824.1_Missense_Mutation_p.R54P NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 54 Interaction with the SNARE complex (By similarity). mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) AAGCACGCGCGCATGGAGGCG 0.692000 5 1 0 0 0.000602 0 0 LAMC3 10319 broad.mit.edu 37 9 133914606 133914606 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:133914606G>T ENST00000361069.4 + 6 1387 c.1254G>T c.(1252-1254)ggG>ggT p.G418G LAMC3_ENST00000480883.1_3'UTR NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 418 Laminin EGF-like 3. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GTCTGCCCGGGTTCCACTCGC 0.622000 17 6 1.02788e-11 1.41334e-11 0.004990 1 0 FCRL5 83416 broad.mit.edu 37 1 157494195 157494195 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:157494195C>T ENST00000361835.3 - 10 2270 c.2113G>A c.(2113-2115)Gcc>Acc p.A705T FCRL5_ENST00000356953.4_Missense_Mutation_p.A705T|FCRL5_ENST00000368191.3_Missense_Mutation_p.A620T|FCRL5_ENST00000368190.3_Missense_Mutation_p.A705T NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 705 Ig-like C2-type 7. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCAGAGGGGGCTGAGATCTTA 0.567000 47 46 0 0 0.003610 0 0 IL5 3567 broad.mit.edu 37 5 131879088 131879088 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:131879088G>T ENST00000231454.1 - 1 126 c.83C>A c.(82-84)gCa>gAa p.A28E NM_000879.2 NP_000870.1 P05113 IL5_HUMAN interleukin 5 (colony-stimulating factor, eosinophil) 28 immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly extracellular space cytokine activity|growth factor activity|interleukin-5 receptor binding endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Pranlukast(DB01411) TTTCACCAATGCACTTGTGGG 0.453000 30 14 4.74835e-14 7.03003e-14 0.010818 1 0 ADAM11 4185 broad.mit.edu 37 17 42854956 42854956 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:42854956G>T ENST00000200557.6 + 22 2057 c.1888G>T c.(1888-1890)Gag>Tag p.E630* ADAM11_ENST00000535346.1_Nonsense_Mutation_p.E430* NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 630 Cys-rich. 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) CCAGGGCAAGGAGCTGGACTG 0.607000 57 20 1.0442e-30 1.93989e-30 0.003610 1 0 ITGA2B 3674 broad.mit.edu 37 17 42455818 42455818 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:42455818G>C ENST00000262407.5 - 20 2037 c.2006C>G c.(2005-2007)gCc>gGc p.A669G ITGA2B_ENST00000353281.4_Missense_Mutation_p.A669G NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 669 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) GCCCTCGTTGGCTGCGTCCAT 0.652000 8 10 0 0 0.003080 0 0 KRT5 3852 broad.mit.edu 37 12 52913994 52913994 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52913994G>T ENST00000252242.4 - 1 477 c.87C>A c.(85-87)cgC>cgA p.R29R NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 29 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton p.R29R(1) endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) TGAAGCTGGTGCGGGAGACAG 0.662000 10 46 1.76689e-08 2.2313e-08 0.006214 1 0 ASTN2 23245 broad.mit.edu 37 9 119568059 119568059 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:119568059A>C ENST00000313400.4 - 13 2348 c.2248T>G c.(2248-2250)Tgc>Ggc p.C750G ASTN2_ENST00000373996.3_Missense_Mutation_p.C746G|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.C699G O75129 ASTN2_HUMAN astrotactin 2 750 EGF-like 3. 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 AGCATTAAGCAGGATTTTCCA 0.473000 63 20 0 0 0.003610 0 0 EXOC8 149371 broad.mit.edu 37 1 231472716 231472716 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:231472716C>A ENST00000366645.1 - 1 882 c.764G>T c.(763-765)aGc>aTc p.S255I EXOC8_ENST00000360394.2_Missense_Mutation_p.S259I Q8IYI6 EXOC8_HUMAN exocyst complex component 8 259 PH. exocytosis|protein transport growth cone|nucleus protein binding cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1) 14 Breast(184;0.0871) all_cancers(173;0.151)|Prostate(94;0.183) GAAAATACGGCTCTCGGGGAA 0.522000 53 19 3.50607e-19 5.81562e-19 0.003610 1 0 F13B 2165 broad.mit.edu 37 1 197026446 197026446 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:197026446C>T ENST00000367412.1 - 6 998 c.955G>A c.(955-957)Gga>Aga p.G319R NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 319 Sushi 5. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GTCCATTTTCCATCTTCACAA 0.358000 21 71 0 0 0.002780 0 0 ANKRD13C 81573 broad.mit.edu 37 1 70728531 70728531 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:70728531C>A ENST00000370944.4 - 13 1809 c.e13-1 ANKRD13C_ENST00000464236.1_Intron|ANKRD13C_ENST00000262346.6_Splice_Site NM_030816.4 NP_110443.3 Q8N6S4 AN13C_HUMAN ankyrin repeat domain 13C protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process endoplasmic reticulum membrane|perinuclear region of cytoplasm receptor binding endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 19 ACAGGTATATCTACAGAGAGA 0.343000 13 18 5.50884e-06 6.39637e-06 0.001368 1 0 TCF20 6942 broad.mit.edu 37 22 42606592 42606592 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:42606592C>G ENST00000359486.3 - 1 4856 c.4720G>C c.(4720-4722)Gag>Cag p.E1574Q TCF20_ENST00000335626.4_Missense_Mutation_p.E1574Q NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GGCTTTGGCTCTCCATCTGCA 0.547000 53 19 0 0 0.003610 0 0 HERC2P3 283755 broad.mit.edu 37 15 20644533 20644533 + RNA SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:20644533C>T ENST00000428453.1 - 0 3187 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 TGGCACTACACGGCTCTTCAC 0.637000 3 5 0 0 0.004672 0 0 ZNF645 158506 broad.mit.edu 37 X 22291375 22291375 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:22291375A>T ENST00000323684.1 + 1 311 c.267A>T c.(265-267)ggA>ggT p.G89G NM_152577.3 NP_689790.1 Q8N7E2 ZN645_HUMAN zinc finger protein 645 89 intracellular zinc ion binding cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 27 ACAAAGTCGGATATAAAGTAT 0.403000 23 15 0 0 0.003954 0 0 PRRX1 5396 broad.mit.edu 37 1 170695468 170695468 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:170695468G>T ENST00000239461.6 + 3 838 c.525G>T c.(523-525)gtG>gtT p.V175V PRRX1_ENST00000497230.2_Silent_p.V175V|PRRX1_ENST00000367760.3_Silent_p.V175V|PRRX1_ENST00000476867.2_3'UTR NM_022716.2 NP_073207.1 P54821 PRRX1_HUMAN paired related homeobox 1 175 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) TGACTGCTGTGGAGCAGCCCA 0.557000 24 46 4.16121e-05 4.65077e-05 0.002780 1 0 FAM124B 79843 broad.mit.edu 37 2 225266347 225266347 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:225266347G>T ENST00000389874.3 - 1 364 c.139C>A c.(139-141)Cgg>Agg p.R47R FAM124B_ENST00000409685.3_Silent_p.R47R|FAM124B_ENST00000243806.2_Silent_p.R47R NM_024785.2 NP_079061.2 Q9H5Z6 F124B_HUMAN family with sequence similarity 124B 47 protein binding endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 16 Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138) Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825) GGACTGGCCCGTTCAGACACC 0.572000 10 39 2.80697e-09 3.61762e-09 0.010729 1 0 C20orf26 26074 broad.mit.edu 37 20 20232362 20232362 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:20232362C>G ENST00000245957.5 + 20 2359 c.2283C>G c.(2281-2283)atC>atG p.I761M C20orf26_ENST00000377293.1_Missense_Mutation_p.I117M|C20orf26_ENST00000377309.2_Missense_Mutation_p.I117M|C20orf26_ENST00000389656.3_Missense_Mutation_p.I117M NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 761 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CGGACGAGATCGTGCCCTACG 0.597000 58 75 0 0 0.003610 0 0 RYR3 6263 broad.mit.edu 37 15 33895566 33895566 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:33895566G>T ENST00000389232.4 + 18 2234 c.e18+1 RYR3_ENST00000415757.3_Splice_Site NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 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) CTTTGGTCAGGTGAGTACCTT 0.468000 103 89 3.22635e-48 6.33152e-48 0.003610 1 0 TEF 7008 broad.mit.edu 37 22 41783370 41783370 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:41783370A>T ENST00000266304.4 + 2 289 c.173A>T c.(172-174)aAg>aTg p.K58M TEF_ENST00000406644.3_Missense_Mutation_p.K28M NM_003216.3 NP_003207.1 Q10587 TEF_HUMAN thyrotrophic embryonic factor 58 rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 GAAAAGGGGAAGGAAAAGCTG 0.557000 9 32 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9084550 9084550 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:9084550G>T ENST00000397910.4 - 1 7468 c.7265C>A c.(7264-7266)aCa>aAa p.T2422K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2422 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 GGCTGTATTTGTCTCTGTTGT 0.498000 16 9 4.7546e-09 6.09017e-09 0.004007 1 0 MYBPC3 4607 broad.mit.edu 37 11 47360203 47360203 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:47360203G>A ENST00000545968.1 - 23 2230 c.2176C>T c.(2176-2178)Cgc>Tgc p.R726C MYBPC3_ENST00000256993.4_Missense_Mutation_p.R725C|MYBPC3_ENST00000399249.2_Missense_Mutation_p.R726C NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 725 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) GTCTCCACGCGGACCCGGCCC 0.642000 16 5 0 0 0.004990 0 0 KIAA0430 9665 broad.mit.edu 37 16 15728691 15728691 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:15728691C>A ENST00000396368.3 - 4 1135 c.929G>T c.(928-930)gGc>gTc p.G310V KIAA0430_ENST00000344181.3_Missense_Mutation_p.G132V|KIAA0430_ENST00000551742.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000548025.1_Missense_Mutation_p.G310V|KIAA0430_ENST00000540441.2_Missense_Mutation_p.G310V|KIAA0430_ENST00000602337.1_Missense_Mutation_p.G310V NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 309 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GGTTCCACAGCCATTACACAG 0.458000 47 61 6.68952e-21 1.13514e-20 0.013114 1 0 WDR12 55759 broad.mit.edu 37 2 203765834 203765834 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:203765834T>C ENST00000261015.3 - 3 894 c.145A>G c.(145-147)Aaa>Gaa p.K49E WDR12_ENST00000477723.1_5'UTR NM_018256.3 NP_060726.3 Q9GZL7 WDR12_HUMAN WD repeat domain 12 49 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 TCCACATGTTTGTGGAACTCT 0.373000 8 13 0 0 0.006214 0 0 RANBP2 5903 broad.mit.edu 37 2 109388981 109388981 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:109388981G>T ENST00000283195.6 + 22 8183 c.8057G>T c.(8056-8058)gGa>gTa p.G2686V NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 2686 2 X 50 AA approximate repeats.|Interaction with SUMO1.|Required for E3 SUMO-ligase activity. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AAACTTAATGGAAAACTATAT 0.323000 15 15 1.02788e-11 1.41334e-11 0.004990 1 0 PTPRC 5788 broad.mit.edu 37 1 198703512 198703512 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:198703512C>A ENST00000367376.2 + 22 2400 c.2229C>A c.(2227-2229)gcC>gcA p.A743A PTPRC_ENST00000442510.2_Silent_p.A745A|PTPRC_ENST00000352140.3_Silent_p.A695A|PTPRC_ENST00000594404.1_Silent_p.A582A|PTPRC_ENST00000348564.6_Silent_p.A584A NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 743 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 AACAGAAAGCCACAGTTATTG 0.393000 131 196 8.25677e-62 1.6461e-61 0.003610 1 0 ZNF91 7644 broad.mit.edu 37 19 23543273 23543273 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:23543273C>A ENST00000300619.7 - 4 2713 c.2508G>T c.(2506-2508)aaG>aaT p.K836N ZNF91_ENST00000397082.2_Missense_Mutation_p.K804N|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 836 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) CTGAGGAGTGCTTAAAAGCTT 0.378000 18 37 2.35188e-11 3.20224e-11 0.006122 1 0 SP140 11262 broad.mit.edu 37 2 231174726 231174726 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:231174726T>C ENST00000392045.3 + 23 2260 c.2146T>C c.(2146-2148)Tgt>Cgt p.C716R SP140_ENST00000343805.6_Missense_Mutation_p.C656R|SP140_ENST00000350136.5_Missense_Mutation_p.C585R|SP140_ENST00000420434.3_Missense_Mutation_p.C689R|SP140_ENST00000417495.3_Missense_Mutation_p.C602R|SP140_ENST00000486687.2_Missense_Mutation_p.C640R NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 716 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCATGAGGACTGTCACATCCC 0.517000 17 61 0 0 0.004990 0 0 CCDC135 84229 broad.mit.edu 37 16 57760145 57760145 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:57760145A>T ENST00000360716.3 + 14 2145 c.1924A>T c.(1924-1926)Agc>Tgc p.S642C CCDC135_ENST00000394337.4_Missense_Mutation_p.S642C|CCDC135_ENST00000336825.8_Missense_Mutation_p.S577C Q8IY82 CC135_HUMAN coiled-coil domain containing 135 642 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 CGAGGTGGACAGCAAAGGCAA 0.662000 23 9 0 0 0.003330 0 0 CSMD3 114788 broad.mit.edu 37 8 113516144 113516144 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:113516144G>T ENST00000297405.5 - 30 5202 c.4958C>A c.(4957-4959)cCa>cAa p.P1653Q CSMD3_ENST00000343508.3_Missense_Mutation_p.P1613Q|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1549Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1653Q NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1653 CUB 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCAATCAGTGGGCTATTACT 0.363000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 64 34 3.13743e-37 6.03426e-37 0.003610 1 0 DLG2 1740 broad.mit.edu 37 11 83180382 83180382 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:83180382A>T ENST00000398309.2 - 20 2636 c.2166T>A c.(2164-2166)gaT>gaA p.D722E DLG2_ENST00000404783.3_Missense_Mutation_p.D200E|DLG2_ENST00000376104.2_Missense_Mutation_p.D827E|DLG2_ENST00000426717.2_Missense_Mutation_p.D186E|DLG2_ENST00000532653.1_Missense_Mutation_p.D704E|DLG2_ENST00000524982.1_Missense_Mutation_p.D718E|DLG2_ENST00000330014.6_Missense_Mutation_p.D643E|DLG2_ENST00000531015.1_Missense_Mutation_p.D689E|DLG2_ENST00000418306.2_Missense_Mutation_p.D601E|DLG2_ENST00000280241.8_Missense_Mutation_p.D761E|DLG2_ENST00000543673.1_Missense_Mutation_p.D827E|DLG2_ENST00000376106.3_Missense_Mutation_p.D186E|DLG2_ENST00000537455.1_Missense_Mutation_p.D472E NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 722 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) AGTCTCTGCCATCCACCTCGT 0.363000 9 62 0 0 0.006214 0 0 PCLO 27445 broad.mit.edu 37 7 82390062 82390062 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:82390062G>T ENST00000333891.8 - 24 15518 c.15181C>A c.(15181-15183)Caa>Aaa p.Q5061K NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4984 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 ACCTTTTTTTGGGTAGAAATA 0.303000 10 8 1.76689e-08 2.2313e-08 0.006214 1 0 LMX1A 4009 broad.mit.edu 37 1 165175199 165175199 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:165175199T>A ENST00000342310.3 - 8 1272 c.890A>T c.(889-891)cAg>cTg p.Q297L LMX1A_ENST00000294816.2_Missense_Mutation_p.Q297L|LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_Missense_Mutation_p.Q297L NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 297 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CAGGAGCTGCTGTGGGGTGGG 0.577000 38 34 0 0 0.006230 0 0 EVC2 132884 broad.mit.edu 37 4 5642297 5642297 + Nonsense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:5642297T>A ENST00000310917.2 - 10 1905 c.1174A>T c.(1174-1176)Aga>Tga p.R392* EVC2_ENST00000344408.5_Nonsense_Mutation_p.R472*|EVC2_ENST00000344938.1_Nonsense_Mutation_p.R472* NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 472 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 ATCATCTCTCTCTGGTACTGG 0.468000 136 49 0 0 0.003610 0 0 KCNC2 3747 broad.mit.edu 37 12 75601539 75601539 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:75601539G>T ENST00000549446.1 - 2 905 c.225C>A c.(223-225)ggC>ggA p.G75G KCNC2_ENST00000298972.1_Silent_p.G75G|KCNC2_ENST00000341669.3_Silent_p.G75G|KCNC2_ENST00000540018.1_Silent_p.G75G|KCNC2_ENST00000350228.2_Silent_p.G75G|KCNC2_ENST00000548513.1_Silent_p.G75G|KCNC2_ENST00000550433.1_Silent_p.G75G|KCNC2_ENST00000393288.2_Silent_p.G75G NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 75 Gly/Pro-rich (insert). 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 CGAAGCAGCCGCCTGGCCCGg 0.766000 8 15 5.18039e-06 6.05425e-06 0.003080 1 0 OR4L1 122742 broad.mit.edu 37 14 20529045 20529045 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:20529045T>C ENST00000315683.1 + 1 842 c.842T>C c.(841-843)tTa>tCa p.L281S NM_001004717.1 NP_001004717.1 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, member 1 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) ATCACACCCTTACTGAATCCG 0.353000 9 21 0 0 0.001368 0 0 TPO 7173 broad.mit.edu 37 2 1457524 1457524 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:1457524T>C ENST00000345913.4 + 6 632 c.541T>C c.(541-543)Tat>Cat p.Y181H TPO_ENST00000382198.1_Missense_Mutation_p.Y181H|TPO_ENST00000382201.3_Missense_Mutation_p.Y181H|TPO_ENST00000346956.3_Missense_Mutation_p.Y181H|TPO_ENST00000337415.3_Missense_Mutation_p.Y181H|TPO_ENST00000329066.4_Missense_Mutation_p.Y181H|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.Y181H NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 181 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CCCTCCAGTCTATGAGGACGG 0.602000 57 41 0 0 0.003610 0 0 CRB1 23418 broad.mit.edu 37 1 197390502 197390502 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:197390502A>T ENST00000367400.3 + 6 1679 c.1544A>T c.(1543-1545)cAg>cTg p.Q515L CRB1_ENST00000538660.1_Missense_Mutation_p.Q515L|CRB1_ENST00000543483.1_Missense_Mutation_p.Q214L|CRB1_ENST00000367399.2_Missense_Mutation_p.Q403L|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.Q446L NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 515 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTCAGGTTTCAGACTGTTCAG 0.478000 33 50 0 0 0.012213 0 0 CACNA1E 777 broad.mit.edu 37 1 181765968 181765968 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:181765968G>T ENST00000526775.1 + 45 6352 c.6187G>T c.(6187-6189)Ggc>Tgc p.G2063C CACNA1E_ENST00000367573.2_Missense_Mutation_p.G2125C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G2014C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G2106C|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G2082C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1689C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G2076C NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2125 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ACCCAGTGAGGGCAGGTCACA 0.587000 3 8 0.004672 0.00489857 0.004672 1 0 CHST2 9435 broad.mit.edu 37 3 142840050 142840050 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:142840050C>G ENST00000309575.3 + 2 1776 c.392C>G c.(391-393)gCc>gGc p.A131G NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 131 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 CCTCCCGCTGCCGCCGTCGGG 0.786000 7 3 0 0 0.010729 0 0 ADRA1D 146 broad.mit.edu 37 20 4228916 4228916 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:4228916C>A ENST00000379453.4 - 1 805 c.689G>T c.(688-690)gGg>gTg p.G230V NM_000678.3 NP_000669.1 P25100 ADA1D_HUMAN adrenoceptor alpha 1D 230 cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation integral to plasma membrane alpha1-adrenergic receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 14 Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162) CAGCAGGGGCCCTACGGACAC 0.677000 4 9 0.00909568 0.0094577 0.009096 1 0 COL2A1 1280 broad.mit.edu 37 12 48367957 48367957 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:48367957A>G ENST00000380518.3 - 53 4396 c.4232T>C c.(4231-4233)cTg>cCg p.L1411P COL2A1_ENST00000337299.6_Missense_Mutation_p.L1342P|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 1411 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTGGATGAGCAGGGCCTTCTT 0.592000 11 73 0 0 0.010729 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20496662 20496662 + RNA SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:20496662G>T ENST00000555186.1 + 0 715 NR_038836.1 CAAAGCGCCCGGCTGTGTGTG 0.438000 5 22 0.00116845 0.00123857 0.001168 1 0 ARHGAP36 158763 broad.mit.edu 37 X 130217883 130217883 + Missense_Mutation SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:130217883T>G ENST00000276211.5 + 4 840 c.495T>G c.(493-495)ttT>ttG p.F165L ARHGAP36_ENST00000370921.1_Missense_Mutation_p.F29L|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.F153L NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 165 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 TCCGGCGCTTTTTCAGTCGCA 0.632000 45 17 0 0 0.009718 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128846491 128846491 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:128846491C>A ENST00000310343.9 - 19 2118 c.2119G>T c.(2119-2121)Gag>Tag p.E707* ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.E358*|ARHGAP32_ENST00000524655.1_Nonsense_Mutation_p.E633* NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 707 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGAGACTCCTCACTTTTAGCT 0.363000 29 23 2.08457e-15 3.19957e-15 0.010818 1 0 MICAL3 57553 broad.mit.edu 37 22 18300793 18300793 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:18300793G>T ENST00000441493.2 - 26 4986 c.4634C>A c.(4633-4635)aCg>aAg p.T1545K NM_015241.2 NP_056056.2 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1545 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) GGACGGGGGCGTGAAGAATTT 0.627000 13 25 1.5842e-08 2.00868e-08 0.001855 1 0 FAM117A 81558 broad.mit.edu 37 17 47788741 47788741 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:47788741C>T ENST00000240364.2 - 8 1317 c.1238G>A c.(1237-1239)aGc>aAc p.S413N FAM117A_ENST00000513602.1_Missense_Mutation_p.S141N|RP11-613C6.2_ENST00000512720.1_RNA NM_030802.3 NP_110429.1 Q9C073 F117A_HUMAN family with sequence similarity 117, member A 413 Pro-rich. haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 17 TGGCCTGGGGCTGGCCGGGGG 0.647000 12 21 0 0 0.003163 0 0 COL5A1 1289 broad.mit.edu 37 9 137704345 137704345 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:137704345G>T ENST00000371817.3 + 47 4155 c.3741G>T c.(3739-3741)caG>caT p.Q1247H NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1247 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) ACGTGGGCCAGATGGTAAGTG 0.537000 34 17 2.51541e-25 4.50618e-25 0.004878 1 0 SEMA3D 223117 broad.mit.edu 37 7 84636136 84636136 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:84636136C>A ENST00000284136.6 - 16 1933 c.1890G>T c.(1888-1890)ggG>ggT p.G630G SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 630 Ig-like C2-type. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 GATGCTCATCCCCTGACCTCT 0.373000 57 46 3.30712e-30 6.12574e-30 0.003610 1 0 FAAH2 158584 broad.mit.edu 37 X 57337123 57337123 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:57337123G>T ENST00000374900.4 + 3 493 c.373G>T c.(373-375)Ggg>Tgg p.G125W NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 125 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 GCCCTTCCTTGGGGTTCCTTT 0.418000 HNSCC(52;0.14) 14 6 1.3612e-06 1.62877e-06 0.003163 1 0 KIAA0226 9711 broad.mit.edu 37 3 197402066 197402066 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:197402066C>A ENST00000273582.5 - 21 3152 c.2605_splice c.e21-1 p.E869_splice KIAA0226_ENST00000296343.5_Splice_Site_p.E914_splice NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 914 autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) ACGCTTTACACTCTACTCAGG 0.582000 14 35 0.00185496 0.00196131 0.001855 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110539098 110539098 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:110539098T>C ENST00000378402.5 + 77 12674 c.12570T>C c.(12568-12570)tcT>tcC p.S4190S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 4190 Poly-Ser. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTCTGTCTCTagcagtggca 0.418000 HNSCC(38;0.096) 8 15 0 0 0.003080 0 0 CDH10 1008 broad.mit.edu 37 5 24535924 24535924 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:24535924A>T ENST00000264463.4 - 4 1041 c.534T>A c.(532-534)tcT>tcA p.S178S NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 178 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S178S(1) NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTTGCACCACAGAAGTACCTG 0.458000 HNSCC(23;0.051) 15 53 0 0 0.003163 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33576396 33576396 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:33576396G>T ENST00000504830.1 - 19 4070 c.3735C>A c.(3733-3735)gcC>gcA p.A1245A ADAMTS12_ENST00000352040.3_Silent_p.A1160A NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1245 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 GCAGAGTGTTGGCTGGCTTTT 0.532000 HNSCC(64;0.19) 68 276 1.72039e-30 3.19137e-30 0.003610 1 0 POLE 5426 broad.mit.edu 37 12 133226046 133226046 + Missense_Mutation SNP C C A rs149462407 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:133226046C>A ENST00000320574.5 - 31 3894 c.3851G>T c.(3850-3852)cGg>cTg p.R1284L POLE_ENST00000535270.1_Missense_Mutation_p.R1257L NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1284 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GAGGCGCTGCCGGGCCTGCAG 0.667000 DNA polymerases (catalytic subunits) 46 28 2.43468e-25 4.3678e-25 0.003610 1 0 PCK1 5105 broad.mit.edu 37 20 56139388 56139388 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:56139388G>T ENST00000319441.4 + 7 1289 c.1125G>T c.(1123-1125)gaG>gaT p.E375D PCK1_ENST00000543666.1_Missense_Mutation_p.E58D|PCK1_ENST00000535860.1_Missense_Mutation_p.E243D NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 375 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) GCATTGATGAGCCGCTAGCTT 0.562000 26 28 3.7963e-18 6.20674e-18 0.003330 1 0 XIRP2 129446 broad.mit.edu 37 2 167760382 167760382 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:167760382A>T ENST00000409195.1 + 2 479 c.390A>T c.(388-390)ccA>ccT p.P130P XIRP2_ENST00000420519.1_Silent_p.P130P|XIRP2_ENST00000409728.1_Silent_p.P130P|XIRP2_ENST00000295237.9_Silent_p.P130P|XIRP2_ENST00000409043.1_Silent_p.P130P|XIRP2_ENST00000409756.2_Silent_p.P130P NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 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 GAAACAAACCAGCTGAGTACG 0.458000 13 55 0 0 0.002450 0 0 TTN 7273 broad.mit.edu 37 2 179444017 179444017 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179444017T>C ENST00000589042.1 - 320 67964 c.67740A>G c.(67738-67740)ccA>ccG p.P22580P TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.P20939P|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.P13640P|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.P13515P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Silent_p.P20012P|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.P13707P|RP11-171I2.2_ENST00000603521.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20939 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) AGGAGACTGATGGAGCTGGCT 0.458000 23 63 0 0 0.003954 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953473 32953473 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:32953473G>T ENST00000321639.5 + 2 723 c.395G>T c.(394-396)cGc>cTc p.R132L NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 132 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TTCATCGTCCGCTCGCACGTG 0.701000 9 14 7.48243e-07 9.03947e-07 0.006214 1 0 ADGRG6 57211 broad.mit.edu 37 6 142759436 142759436 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:142759436C>T ENST00000230173.6 + 24 3985 c.3509C>T c.(3508-3510)tCa>tTa p.S1170L GPR126_ENST00000367609.3_Missense_Mutation_p.S1170L|GPR126_ENST00000367608.2_Missense_Mutation_p.S1142L|GPR126_ENST00000296932.8_Missense_Mutation_p.S1142L NM_020455.5 NP_065188.4 Q86SQ4 GP126_HUMAN G protein-coupled receptor 126 1170 Ser-rich. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 Breast(32;0.176) OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121) GGTTCCAACTCAACCTATCTT 0.358000 11 2 0 0 0.001368 0 0 TMEM145 284339 broad.mit.edu 37 19 42821921 42821921 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:42821921G>T ENST00000598766.1 + 12 1033 c.1033G>T c.(1033-1035)Gga>Tga p.G345* TMEM145_ENST00000301204.3_Nonsense_Mutation_p.G321* Q8NBT3 TM145_HUMAN transmembrane protein 145 321 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) CGGGCTCATTGGACTGCAGGT 0.577000 28 10 4.87955e-14 7.20726e-14 0.005443 1 0 RIMBP2 23504 broad.mit.edu 37 12 130963550 130963550 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:130963550C>T ENST00000261655.4 - 3 172 c.9G>A c.(7-9)gaG>gaA p.E3E RIMBP2_ENST00000535703.1_5'UTR|RIMBP2_ENST00000536002.1_5'UTR NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 3 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GTTCAGCCGCCTCTCGCATAT 0.612000 45 28 0 0 0.003610 0 0 TBC1D4 9882 broad.mit.edu 37 13 75863090 75863090 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:75863090C>A ENST00000377636.3 - 20 3989 c.3643G>T c.(3643-3645)Gac>Tac p.D1215Y TBC1D4_ENST00000425511.1_Missense_Mutation_p.D379Y|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1207Y|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D1152Y NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1215 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) TCTAGGAGGTCCATGTTTTGT 0.408000 11 26 0.000151284 0.000166267 0.001855 1 0 ZIC3 7547 broad.mit.edu 37 X 136648931 136648931 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:136648931G>T ENST00000287538.5 + 1 631 c.81G>T c.(79-81)atG>atT p.M27I ZIC3_ENST00000370606.3_Missense_Mutation_p.M27I NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 27 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) ACCACGAGATGCCCAACCGTG 0.721000 5 1 0.000602214 0.000644899 0.000602 1 0 CCDC135 84229 broad.mit.edu 37 16 57752386 57752386 + Splice_Site SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:57752386T>C ENST00000360716.3 + 9 1426 c.1206_splice c.e9+1 p.L402_splice CCDC135_ENST00000394337.4_Splice_Site_p.L402_splice|CCDC135_ENST00000336825.8_Splice_Site_p.L337_splice Q8IY82 CC135_HUMAN coiled-coil domain containing 135 402 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 GTGGAAAATCTGGTGAGTCTC 0.537000 63 28 0 0 0.003610 0 0 DNAH3 55567 broad.mit.edu 37 16 21078605 21078605 + Splice_Site SNP T T G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:21078605T>G ENST00000261383.3 - 24 3516 c.3518_splice c.e24+1 p.R1173_splice DNAH3_ENST00000415178.1_Splice_Site_p.R1173_splice NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1173 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GCTGGATACCTGGGGAAGAAT 0.423000 20 26 0 0 0.008871 0 0 CCDC27 148870 broad.mit.edu 37 1 3669273 3669273 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:3669273G>T ENST00000294600.2 + 1 312 c.228G>T c.(226-228)cgG>cgT p.R76R NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 76 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGGCCAGCCGGGACGCCCGGT 0.622000 18 60 1.2644e-06 1.52036e-06 0.010504 1 0 DNAH3 55567 broad.mit.edu 37 16 20981275 20981275 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:20981275G>A ENST00000261383.3 - 52 8296 c.8297C>T c.(8296-8298)gCa>gTa p.A2766V DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2766 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGCCTCGAGTGCAGGCATTGC 0.607000 23 79 0 0 0.003954 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776298 77776298 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:77776298C>A ENST00000521891.2 + 11 10796 c.10348C>A c.(10348-10350)Ctt>Att p.L3450I ZFHX4_ENST00000050961.6_Missense_Mutation_p.L3401I|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L3405I|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L3424I NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3401 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) ATATCAGTGTCTTGCCTGTGA 0.453000 HNSCC(33;0.089) 20 63 1.64113e-05 1.87089e-05 0.010504 1 0 EPHA3 2042 broad.mit.edu 37 3 89391031 89391031 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:89391031G>T ENST00000336596.2 + 5 1322 c.1097G>T c.(1096-1098)tGt>tTt p.C366F EPHA3_ENST00000494014.1_Missense_Mutation_p.C366F|EPHA3_ENST00000452448.2_Missense_Mutation_p.C366F NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 366 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGTAAAAAATGTGGGTGGAAT 0.478000 TSP Lung(6;0.00050) 19 33 2.39187e-15 3.66228e-15 0.008871 1 0 THSD7B 80731 broad.mit.edu 37 2 138033543 138033543 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:138033543G>T ENST00000409968.1 + 12 2625 c.2447G>T c.(2446-2448)tGg>tTg p.W816L THSD7B_ENST00000272643.3_Missense_Mutation_p.W816L|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.W785L 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) GAGTCTGTCTGGCAGGGAATA 0.413000 8 22 3.86212e-05 4.32419e-05 0.008291 1 0 PHIP 55023 broad.mit.edu 37 6 79695070 79695070 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:79695070T>A ENST00000275034.4 - 22 2703 c.2537_splice c.e22+1 p.S846_splice NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 846 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) TTCATTTACCTAGAACTGCCA 0.363000 13 30 0 0 0.002450 0 0 FGL1 2267 broad.mit.edu 37 8 17731968 17731968 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:17731968G>T ENST00000398056.2 - 6 1122 c.307C>A c.(307-309)Cag>Aag p.Q103K FGL1_ENST00000381840.2_Missense_Mutation_p.Q103K|FGL1_ENST00000518650.1_Missense_Mutation_p.Q103K|FGL1_ENST00000427924.1_Missense_Mutation_p.Q103K|FGL1_ENST00000381841.2_Missense_Mutation_p.Q103K|FGL1_ENST00000398054.1_Missense_Mutation_p.Q103K|FGL1_ENST00000522444.1_Missense_Mutation_p.Q103K Q08830 FGL1_HUMAN fibrinogen-like 1 103 Fibrinogen C-terminal. signal transduction fibrinogen complex receptor binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4) 13 Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215) GCTGGGCTCTGGAGAGGTTTG 0.378000 57 16 3.84483e-29 7.06953e-29 0.003610 1 0 EFR3A 23167 broad.mit.edu 37 8 132957094 132957094 + Silent SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:132957094A>C ENST00000254624.5 + 3 415 c.190A>C c.(190-192)Agg>Cgg p.R64R EFR3A_ENST00000334503.4_Silent_p.R64R|EFR3A_ENST00000519656.1_Silent_p.R28R NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 64 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) AAGGTTGAGCAGGGATGTTGT 0.373000 5 31 0 0 0.001168 0 0 DPPA2 151871 broad.mit.edu 37 3 109019251 109019251 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:109019251C>T ENST00000478945.1 - 8 1132 c.886G>A c.(886-888)Gta>Ata p.V296I NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 296 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 TACTTCTCTACTGTCATTAAT 0.348000 18 108 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179439643 179439643 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179439643A>G ENST00000589042.1 - 326 71440 c.71216T>C c.(71215-71217)gTt>gCt p.V23739A TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V22098A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V14799A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V14674A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V21171A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V14866A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22098 Fibronectin type-III 72. 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) ATCAGATGAAACTTCATCAAA 0.443000 10 25 0 0 0.008291 0 0 TENM2 57451 broad.mit.edu 37 5 167643927 167643927 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:167643927G>T ENST00000519204.1 + 21 3988 c.3870_splice c.e21+1 p.Q1290_splice TENM2_ENST00000545108.1_Splice_Site_p.Q1410_splice|TENM2_ENST00000403607.2_Splice_Site_p.Q1235_splice|TENM2_ENST00000518659.1_Splice_Site_p.Q1411_splice|TENM2_ENST00000520394.1_Splice_Site_p.Q1172_splice teneurin transmembrane protein 2 ATGTAGCCCAGGTGAGACTCT 0.532000 30 10 3.03874e-20 5.10118e-20 0.003271 1 0 HMCN1 83872 broad.mit.edu 37 1 186064396 186064396 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:186064396C>A ENST00000271588.4 + 68 10545 c.10316C>A c.(10315-10317)tCa>tAa p.S3439* HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S3439* NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3439 Ig-like C2-type 33. response to stimulus|visual perception basement membrane calcium ion binding p.S3439*(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 ATGGACAATTCAATGGGGACA 0.383000 25 31 7.01153e-11 9.4037e-11 0.007291 1 0 DLG1 1739 broad.mit.edu 37 3 196812495 196812495 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:196812495T>A ENST00000346964.2 - 17 2082 c.1893A>T c.(1891-1893)ccA>ccT p.P631P DLG1_ENST00000452595.1_Silent_p.P515P|DLG1_ENST00000450955.1_Silent_p.P598P|DLG1_ENST00000448528.2_Silent_p.P631P|DLG1_ENST00000443183.1_Silent_p.P515P|DLG1_ENST00000422288.1_Silent_p.P580P|DLG1_ENST00000419354.1_Silent_p.P631P|DLG1_ENST00000392382.2_Silent_p.P598P|DLG1_ENST00000357674.4_Silent_p.P598P|DLG1_ENST00000314062.3_Silent_p.P580P NM_004087.2 NP_004078.2 Q12959 DLG1_HUMAN discs, large homolog 1 (Drosophila) 631 SH3. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) TCTCACCATCTGGTGTAACCT 0.448000 34 36 0 0 0.003271 0 0 SERPINB2 5055 broad.mit.edu 37 18 61564427 61564427 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:61564427G>T ENST00000457692.1 + 5 724 c.391G>T c.(391-393)Ggt>Tgt p.G131C SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.G131C NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 131 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) TAAGCTGTTTGGTGAGAAGTC 0.423000 38 10 3.62531e-18 5.9349e-18 0.004289 1 0 CFH 3075 broad.mit.edu 37 1 196643001 196643001 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:196643001C>G ENST00000367429.4 + 3 499 c.259C>G c.(259-261)Cat>Gat p.H87D CFH_ENST00000439155.2_Missense_Mutation_p.H87D|CFH_ENST00000359637.2_Missense_Mutation_p.H87D NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 87 Sushi 2. 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 GCCCTGTGGACATCCTGGAGA 0.348000 13 66 0 0 0.002450 0 0 KDM4E 390245 broad.mit.edu 37 11 94759534 94759534 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:94759534C>T ENST00000450979.2 + 1 1113 c.813C>T c.(811-813)acC>acT p.T271T NM_001161630.1 NP_001155102.1 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4E 271 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(7)|kidney(1)|lung(3) 12 TCATGGTGACCTTTCCCTATG 0.502000 11 33 0 0 0.010729 0 0 EPHB1 2047 broad.mit.edu 37 3 134911548 134911548 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:134911548C>G ENST00000398015.3 + 11 2383 c.2013C>G c.(2011-2013)atC>atG p.I671M EPHB1_ENST00000493838.1_Missense_Mutation_p.I232M NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 671 Protein kinase. 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 AGGCGAGCATCATGGGCCAGT 0.542000 10 33 0 0 0.001368 0 0 CACNA2D1 781 broad.mit.edu 37 7 81693628 81693628 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:81693628C>A ENST00000356860.3 - 9 1109 c.771G>T c.(769-771)ctG>ctT p.L257L CACNA2D1_ENST00000423588.1_Silent_p.L257L|CACNA2D1_ENST00000356253.5_Silent_p.L257L NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 257 VWFA. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ACACATCCACCAGAATAAGCA 0.328000 9 7 3.86212e-05 4.32419e-05 0.008291 1 0 BOD1L1 259282 broad.mit.edu 37 4 13603773 13603773 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:13603773G>A ENST00000040738.5 - 10 4886 c.4751C>T c.(4750-4752)aCt>aTt p.T1584I NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1584 DNA binding AGCAAAAACAGTGCATTCACT 0.483000 10 26 0 0 0.008291 0 0 CLPB 81570 broad.mit.edu 37 11 72012963 72012963 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:72012963C>A ENST00000294053.3 - 12 1476 c.1303G>T c.(1303-1305)Gag>Tag p.E435* CLPB_ENST00000340729.5_Nonsense_Mutation_p.E376*|CLPB_ENST00000538021.1_Nonsense_Mutation_p.E43*|CLPB_ENST00000543042.1_Nonsense_Mutation_p.E234*|CLPB_ENST00000538039.1_Nonsense_Mutation_p.E405*|CLPB_ENST00000437826.2_Nonsense_Mutation_p.E390* NM_001258394.1|NM_030813.4 NP_001245323.1|NP_110440.1 Q9H078 CLPB_HUMAN ClpB caseinolytic peptidase B homolog (E. coli) 435 cellular response to heat ATP binding|nucleoside-triphosphatase activity|protein binding endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 19 TGGCCACCCTCCTCATGGCCA 0.512000 59 77 2.44813e-32 4.58888e-32 0.003610 1 0 RASGRP2 10235 broad.mit.edu 37 11 64503016 64503016 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:64503016C>G ENST00000377494.1 - 10 2216 c.1294G>C c.(1294-1296)Gag>Cag p.E432Q RASGRP2_ENST00000377497.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000394432.3_Missense_Mutation_p.E432Q|RASGRP2_ENST00000354024.3_Missense_Mutation_p.E432Q Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 432 EF-hand 1. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GAGCTCACCTCCACCATCTTC 0.647000 27 31 0 0 0.008361 0 0 PTPRF 5792 broad.mit.edu 37 1 44086827 44086827 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:44086827G>T ENST00000359947.4 + 33 5919 c.5579G>T c.(5578-5580)cGc>cTc p.R1860L PTPRF_ENST00000372414.3_Missense_Mutation_p.R1860L|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1851L|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.R1851L|PTPRF_ENST00000422171.2_Missense_Mutation_p.R1219L NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1860 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) GAGCGCATGCGCTACGAGGGC 0.617000 157 17 1.01513e-63 2.02703e-63 0.003610 1 0 DCST1 149095 broad.mit.edu 37 1 155019788 155019788 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:155019788C>A ENST00000295542.1 + 14 1708 c.1612_splice c.e14+1 p.P538_splice DCST1_ENST00000368419.2_Splice_Site_p.P538_splice|DCST1_ENST00000392480.1_Splice_Site_p.P538_splice|DCST1_ENST00000423025.2_Splice_Site_p.P513_splice NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 538 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AAACAACATGCGTGAGTGATG 0.547000 27 42 7.41945e-09 9.45528e-09 0.005443 1 0 PHLDB2 90102 broad.mit.edu 37 3 111603476 111603476 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:111603476C>T ENST00000431670.2 + 2 963 c.552C>T c.(550-552)tcC>tcT p.S184S PHLDB2_ENST00000393925.3_Silent_p.S184S|PHLDB2_ENST00000393923.3_Silent_p.S211S|PHLDB2_ENST00000412622.1_Silent_p.S184S|PHLDB2_ENST00000481953.1_Silent_p.S184S|PHLDB2_ENST00000477695.1_Silent_p.S184S|PHLDB2_ENST00000478922.1_Silent_p.S184S NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 184 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 ATGGAAGTTCCCTGAGTGATG 0.552000 28 56 0 0 0.005443 0 0 RBM24 221662 broad.mit.edu 37 6 17292138 17292138 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:17292138G>A ENST00000379052.5 + 4 735 c.499G>A c.(499-501)Gcc>Acc p.A167T RBM24_ENST00000425446.2_Missense_Mutation_p.A109T|RBM24_ENST00000318204.5_Missense_Mutation_p.A122T|RBM24_ENST00000508508.1_3'UTR NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 167 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) tgctgctgctgccgccgccgc 0.602000 15 27 0 0 0.004990 0 0 TTN 7273 broad.mit.edu 37 2 179592014 179592014 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179592014C>T ENST00000589042.1 - 69 20302 c.20078G>A c.(20077-20079)gGa>gAa p.G6693E TTN_ENST00000591111.1_Missense_Mutation_p.G6376E|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G5449E|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6376 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G5449V(1) 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) TTCTGGGGATCCAGCTATCTT 0.418000 10 33 0 0 0.008291 0 0 FGFR4 2264 broad.mit.edu 37 5 176517421 176517421 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:176517421A>T ENST00000292408.4 + 3 367 c.122A>T c.(121-123)cAa>cTa p.Q41L FGFR4_ENST00000292410.3_Missense_Mutation_p.Q41L|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000502906.1_Missense_Mutation_p.Q41L|FGFR4_ENST00000393648.2_Missense_Mutation_p.Q41L|FGFR4_ENST00000393637.1_Missense_Mutation_p.Q41L NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 41 Ig-like C2-type 1. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CTGGAGCAGCAAGAGCAGGAG 0.657000 TSP Lung(9;0.080) 23 7 0 0 0.002299 0 0 EPHA3 2042 broad.mit.edu 37 3 89391033 89391033 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:89391033G>T ENST00000336596.2 + 5 1324 c.1099G>T c.(1099-1101)Ggg>Tgg p.G367W EPHA3_ENST00000494014.1_Missense_Mutation_p.G367W|EPHA3_ENST00000452448.2_Missense_Mutation_p.G367W NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 367 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TAAAAAATGTGGGTGGAATAT 0.483000 TSP Lung(6;0.00050) 19 33 2.39187e-15 3.66228e-15 0.008871 1 0 NUMBL 9253 broad.mit.edu 37 19 41179275 41179275 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:41179275C>T ENST00000252891.4 - 8 1177 c.1010G>A c.(1009-1011)cGc>cAc p.R337H NUMBL_ENST00000540131.1_Missense_Mutation_p.R296H|NUMBL_ENST00000598779.1_Missense_Mutation_p.R296H NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 337 cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) GAAGTCAGTGCGGCGCTGCAG 0.607000 9 13 0 0 0.001855 0 0 LYAR 55646 broad.mit.edu 37 4 4276138 4276138 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:4276138T>A ENST00000343470.4 - 7 1028 c.788A>T c.(787-789)gAg>gTg p.E263V LYAR_ENST00000452476.1_Missense_Mutation_p.E263V NM_017816.2 NP_060286.1 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 263 Lys-rich. nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CACGTGTGCCTCTTCCTCACT 0.582000 92 141 0 0 0.003610 0 0 TTC8 123016 broad.mit.edu 37 14 89337958 89337958 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:89337958A>G ENST00000338104.6 + 12 1215 c.1163A>G c.(1162-1164)tAt>tGt p.Y388C TTC8_ENST00000380656.2_Missense_Mutation_p.Y372C|TTC8_ENST00000536576.1_Missense_Mutation_p.Y133C|TTC8_ENST00000345383.5_Missense_Mutation_p.Y362C|TTC8_ENST00000346301.4_Missense_Mutation_p.Y332C|TTC8_ENST00000358622.5_Missense_Mutation_p.Y174C|TTC8_ENST00000354441.6_Missense_Mutation_p.Y107C Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 398 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGTTGCTTCTATGCCCAGCAG 0.448000 11 38 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179429977 179429977 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:179429977G>T ENST00000589042.1 - 326 81106 c.80882C>A c.(80881-80883)gCa>gAa p.A26961E TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A25320E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A18021E|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A17896E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A24393E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A18088E NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 25320 Fibronectin type-III 96. 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) ATTTTCTGTTGCTGTGCCTGC 0.413000 29 99 2.12542e-12 2.99469e-12 0.006320 1 0 OR4A5 81318 broad.mit.edu 37 11 51412250 51412250 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:51412250G>T ENST00000319760.6 - 1 198 c.146C>A c.(145-147)gCc>gAc p.A49D NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 49 IA -> FS (in Ref. 1; BAC05754). 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) GGAAGGGCTGGCAATAATATC 0.438000 13 33 9.31168e-06 1.07423e-05 0.001855 1 0 SLC4A3 6508 broad.mit.edu 37 2 220497732 220497732 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:220497732G>T ENST00000358055.3 + 9 1789 c.e9+1 SLC4A3_ENST00000317151.3_Splice_Site|SLC4A3_ENST00000373760.2_Splice_Site|SLC4A3_ENST00000373762.3_Splice_Site|SLC4A3_ENST00000273063.6_Splice_Site P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGAAGCACAGGTGCCGGGGTG 0.622000 28 17 1.75199e-13 2.53401e-13 0.007291 1 0 NFKBIZ 64332 broad.mit.edu 37 3 101573503 101573503 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:101573503G>T ENST00000326172.5 + 6 1534 c.1419G>T c.(1417-1419)ctG>ctT p.L473L NFKBIZ_ENST00000326151.5_Silent_p.L351L|NFKBIZ_ENST00000394054.2_Silent_p.L373L NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 473 Interaction with NFKB1/p50 (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 TTCACATGCTGGATATTAAAG 0.463000 8 57 0.000157383 0.000171915 0.003080 1 0 APOB 338 broad.mit.edu 37 2 21230991 21230991 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:21230991C>T ENST00000233242.1 - 26 8876 c.8749G>A c.(8749-8751)Ggc>Agc p.G2917S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2917 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) GCTATGTGGCCAGCTTTCAAC 0.458000 34 108 0 0 0.003755 0 0 SYT4 6860 broad.mit.edu 37 18 40850516 40850516 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:40850516C>A ENST00000255224.3 - 4 1436 c.1068G>T c.(1066-1068)gaG>gaT p.E356D SYT4_ENST00000590752.1_Missense_Mutation_p.E338D|SYT4_ENST00000586678.1_5'UTR NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 356 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AGACAAACAGCTCATTGAACA 0.428000 34 34 8.16721e-17 1.29151e-16 0.010818 1 0 TBL2 26608 broad.mit.edu 37 7 72984917 72984917 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:72984917C>A ENST00000305632.5 - 7 1505 c.1264G>T c.(1264-1266)Gag>Tag p.E422* TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Nonsense_Mutation_p.E386* NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 422 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) CGGGTGCTCTCGTTGGAGGCC 0.677000 7 9 2.0095e-06 2.39081e-06 0.001984 1 0 GMPS 8833 broad.mit.edu 37 3 155611422 155611422 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:155611422T>A ENST00000496455.1 + 2 478 c.143T>A c.(142-144)cTg>cAg p.L48Q GMPS_ENST00000295920.7_Intron NM_003875.2 NP_003866.1 P49915 GUAA_HUMAN guanine monphosphate synthase 48 Glutamine amidotransferase type-1. glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTGAGGGAACTGTTCGTGCAG 0.458000 T MLL AML 15 10 0 0 0.002450 0 0 TNFRSF4 7293 broad.mit.edu 37 1 1147325 1147325 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:1147325C>A ENST00000379236.3 - 5 635 c.631G>T c.(631-633)Ggg>Tgg p.G211W NM_003327.3 NP_003318.1 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, member 4 211 immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity large_intestine(1)|lung(2)|urinary_tract(1) 4 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CCCTTACCCCCGGGGACCTCC 0.736000 12 5 5.50884e-06 6.39637e-06 0.001368 1 0 GAL3ST3 89792 broad.mit.edu 37 11 65812812 65812812 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:65812812T>A ENST00000312006.4 - 2 356 c.75A>T c.(73-75)ctA>ctT p.L25L GAL3ST3_ENST00000527878.1_Silent_p.L25L NM_033036.2 NP_149025.1 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 25 monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity kidney(1)|lung(9)|ovary(2)|skin(2) 14 TGCTGCACCCTAGCACCAGCA 0.677000 OREG0021093 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 14 0 0 0.006214 0 0 KIAA2018 205717 broad.mit.edu 37 3 113378522 113378522 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:113378522C>T ENST00000316407.4 - 7 2417 c.2007G>A c.(2005-2007)caG>caA p.Q669Q KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.Q669Q NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 669 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AAGCAAAGAGCTGTCCATTTA 0.398000 31 69 0 0 0.009535 0 0 GREB1 9687 broad.mit.edu 37 2 11696778 11696778 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:11696778G>C ENST00000381486.2 + 2 338 c.38G>C c.(37-39)cGc>cCc p.R13P GREB1_ENST00000263834.5_Missense_Mutation_p.R13P|GREB1_ENST00000389825.3_Intron|GREB1_ENST00000381483.2_Missense_Mutation_p.R13P|GREB1_ENST00000234142.5_Missense_Mutation_p.R13P NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 13 integral to membrane p.R13H(3) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) AAGACGACACGCTTTGAAGAG 0.517000 14 87 0 0 0.001855 0 0 ENDOU 8909 broad.mit.edu 37 12 48107062 48107062 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:48107062G>T ENST00000422538.3 - 7 983 c.861C>A c.(859-861)ttC>ttA p.F287L ENDOU_ENST00000229003.3_Missense_Mutation_p.F246L|ENDOU_ENST00000542202.1_Missense_Mutation_p.F53L|ENDOU_ENST00000545824.2_Missense_Mutation_p.F224L|RP1-197B17.3_ENST00000547799.1_lincRNA NM_001172439.1 NP_001165910.1 P21128 ENDOU_HUMAN endonuclease, polyU-specific 287 female pregnancy|immune response|proteolysis cytoplasm|extracellular space|plasma membrane endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity p.F246L(1) autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1) 14 TCCCACCTGAGAAGACATGTT 0.498000 39 68 1.15505e-17 1.87136e-17 0.009718 1 0 EVX2 344191 broad.mit.edu 37 2 176945402 176945402 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:176945402C>T ENST00000308618.4 - 3 1000 c.864G>A c.(862-864)ccG>ccA p.P288P NM_001080458.1 NP_001073927.1 Q03828 EVX2_HUMAN even-skipped homeobox 2 288 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3) 16 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115) CGCCCACGTGCGGGTAGTAGT 0.711000 15 20 0 0 0.002450 0 0 NNT 23530 broad.mit.edu 37 5 43675653 43675653 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:43675653A>G ENST00000264663.5 + 18 2896 c.2675A>G c.(2674-2676)tAt>tGt p.Y892C NNT_ENST00000344920.4_Missense_Mutation_p.Y892C|NNT_ENST00000512996.2_Missense_Mutation_p.Y761C NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 892 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) CTTGGAGGCTATGGCACCACT 0.418000 9 52 0 0 0.006214 0 0 GEN1 348654 broad.mit.edu 37 2 17963153 17963153 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:17963153G>T ENST00000381254.2 + 14 2888 c.2674G>T c.(2674-2676)Gat>Tat p.D892Y GEN1_ENST00000317402.7_Missense_Mutation_p.D892Y|SMC6_ENST00000402989.1_Intron NM_001130009.1 NP_001123481.1 Q17RS7 GEN_HUMAN GEN1 Holliday junction 5' flap endonuclease 892 DNA repair nucleus DNA binding|endonuclease activity|metal ion binding breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) TACTTGTTTGGATAGCCCTCT 0.338000 Homologous recombination 16 33 2.23348e-06 2.64725e-06 0.004007 1 0 RAD51AP1 10635 broad.mit.edu 37 12 4662196 4662196 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:4662196G>A ENST00000228843.9 + 8 705 c.655G>A c.(655-657)Gac>Aac p.D219N RAD51AP1_ENST00000543041.1_Missense_Mutation_p.D84N|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.D202N|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.D219N|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000544927.1_Missense_Mutation_p.D202N NM_001130862.1 NP_001124334.1 Q96B01 R51A1_HUMAN RAD51 associated protein 1 219 double-strand break repair via homologous recombination double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389) TGAGGATAATGACGAAGACTT 0.313000 10 38 0 0 0.010729 0 0 CACNA1E 777 broad.mit.edu 37 1 181767574 181767574 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:181767574C>T ENST00000526775.1 + 46 6525 c.6360C>T c.(6358-6360)atC>atT p.I2120I CACNA1E_ENST00000367573.2_Silent_p.I2182I|CACNA1E_ENST00000358338.5_Silent_p.I2071I|CACNA1E_ENST00000360108.3_Silent_p.I2163I|CACNA1E_ENST00000367570.1_Silent_p.I2139I|CACNA1E_ENST00000367567.4_Silent_p.I1746I|CACNA1E_ENST00000357570.5_Silent_p.I2133I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 2182 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 CGGGCAGCATCTCTCCACCTG 0.637000 42 40 0 0 0.008740 0 0 TLR10 81793 broad.mit.edu 37 4 38776612 38776612 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:38776612G>T ENST00000308973.4 - 4 1205 c.600C>A c.(598-600)gaC>gaA p.D200E TLR10_ENST00000506111.1_Missense_Mutation_p.D200E|TLR10_ENST00000508334.1_Missense_Mutation_p.D200E|TLR10_ENST00000361424.2_Missense_Mutation_p.D200E NM_001017388.2|NM_001195107.1|NM_030956.3 NP_001017388.1|NP_001182036.1|NP_112218.2 Q9BXR5 TLR10_HUMAN toll-like receptor 10 200 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 AGAAATTTGTGTCCATTGGTA 0.343000 38 20 4.92203e-23 8.58445e-23 0.006230 1 0 ADAM23 8745 broad.mit.edu 37 2 207414883 207414883 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:207414883C>T ENST00000264377.3 + 9 1260 c.933_splice c.e9+1 p.T311_splice ADAM23_ENST00000374415.3_Splice_Site_p.T311_splice|ADAM23_ENST00000374416.1_Splice_Site_p.T311_splice NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 311 Peptidase M12B. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) GATCACAAAACGGTAAGAATA 0.279000 5 23 0 0 0.000602 0 0 CCDC50 152137 broad.mit.edu 37 3 191092871 191092871 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:191092871G>T ENST00000392456.3 + 6 1059 c.469G>T c.(469-471)Gcc>Tcc p.A157S CCDC50_ENST00000392455.3_Intron NM_178335.2 NP_848018.1 Q8IVM0 CCD50_HUMAN coiled-coil domain containing 50 153 cytoplasm protein binding endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1) 23 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) GTCAAGGAGGGCCAGGGAATT 0.448000 9 24 9.70103e-10 1.26325e-09 0.008291 1 0 DST 667 broad.mit.edu 37 6 56373489 56373489 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:56373489C>A ENST00000370754.5 - 75 18983 c.18984G>T c.(18982-18984)gaG>gaT p.E6328D DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.E6039D|DST_ENST00000446842.2_Missense_Mutation_p.E5824D|DST_ENST00000370788.2_Missense_Mutation_p.E3953D|DST_ENST00000370769.4_Missense_Mutation_p.E6150D|DST_ENST00000244364.6_Missense_Mutation_p.E3736D|DST_ENST00000421834.2_Missense_Mutation_p.E4062D Q03001 DYST_HUMAN dystonin 6148 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGGCTTCCCTCTCTTCCACCA 0.413000 19 50 9.7654e-05 0.000107988 0.007413 1 0 MROH7 374977 broad.mit.edu 37 1 55119634 55119634 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:55119634C>A ENST00000414150.2 + 3 1313 c.1035C>A c.(1033-1035)ttC>ttA p.F345L MROH7_ENST00000395690.2_Missense_Mutation_p.F345L|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.F345L|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000421030.2_Missense_Mutation_p.F345L maestro heat-like repeat family member 7 GCCTCCTGTTCAGCGACACCT 0.567000 15 32 3.27435e-08 4.09376e-08 0.002450 1 0 KCNJ2 3759 broad.mit.edu 37 17 68171798 68171798 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:68171798C>A ENST00000243457.3 + 2 1001 c.618C>A c.(616-618)ggC>ggA p.G206G KCNJ2_ENST00000535240.1_Silent_p.G206G NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 206 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) TGAGAGACGGCAAGCTGTGTT 0.488000 14 47 5.01169e-05 5.59632e-05 0.004990 1 0 FLNC 2318 broad.mit.edu 37 7 128491636 128491636 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:128491636C>T ENST00000325888.8 + 35 6057 c.5796C>T c.(5794-5796)ttC>ttT p.F1932F FLNC_ENST00000346177.6_Silent_p.F1899F|RP11-309L24.2_ENST00000469965.1_RNA NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1932 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 TCGTGCGCTTCGATGACAAGC 0.577000 14 59 0 0 0.001855 0 0 ITGAX 3687 broad.mit.edu 37 16 31371149 31371149 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:31371149C>A ENST00000268296.4 + 6 680 c.559C>A c.(559-561)Cag>Aag p.Q187K ITGAX_ENST00000562522.1_Missense_Mutation_p.Q187K NM_000887.3 NP_000878.2 P20702 ITAX_HUMAN integrin, alpha X (complement component 3 receptor 4 subunit) 187 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 77 ACCCAGCACCCAGGTGTGCCT 0.592000 39 82 4.32679e-17 6.89428e-17 0.006999 1 0 ATP13A2 23400 broad.mit.edu 37 1 17323579 17323579 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:17323579C>A ENST00000452699.1 - 12 1305 c.1116G>T c.(1114-1116)ggG>ggT p.G372G ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Silent_p.G377G|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000341676.5_Silent_p.G372G NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 377 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGATGAGGGTCCCGCAGAAGA 0.662000 43 23 2.95478e-19 4.90767e-19 0.008740 1 0 OR6Y1 391112 broad.mit.edu 37 1 158516949 158516949 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:158516949C>A ENST00000302617.3 - 1 946 c.947G>T c.(946-948)gGg>gTg p.G316V NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 316 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) TCCCTGGGGCCCACTTCCTCT 0.453000 22 35 3.8784e-16 6.0794e-16 0.012319 1 0 ABI3BP 25890 broad.mit.edu 37 3 100617622 100617622 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:100617622G>A ENST00000471714.1 - 4 575 c.466C>T c.(466-468)Cac>Tac p.H156Y ABI3BP_ENST00000495063.1_Missense_Mutation_p.H156Y|ABI3BP_ENST00000284322.5_Missense_Mutation_p.H156Y Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 156 Fibronectin type-III 1. extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTGGGACAGTGACTTGGCAAT 0.453000 12 63 0 0 0.010729 0 0 PROX1 5629 broad.mit.edu 37 1 214171498 214171498 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:214171498A>G ENST00000366958.4 + 2 2228 c.1620A>G c.(1618-1620)ccA>ccG p.P540P PROX1_ENST00000435016.1_Silent_p.P540P|PROX1_ENST00000261454.4_Silent_p.P540P|PROX1_ENST00000498508.2_Silent_p.P540P NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 540 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding p.P540P(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CTTGTTCACCAGCACACCCGC 0.522000 24 48 0 0 0.002299 0 0 DNAAF2 55172 broad.mit.edu 37 14 50092641 50092641 + Silent SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:50092641A>C ENST00000298292.8 - 3 2213 c.2133T>G c.(2131-2133)tcT>tcG p.S711S DNAAF2_ENST00000406043.3_Silent_p.S663S NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 711 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 TAACTGCTATAGATGAATCAG 0.343000 3 15 0 0 0.004672 0 0 AIFM3 150209 broad.mit.edu 37 22 21327772 21327772 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:21327772G>T ENST00000399167.2 + 3 448 c.208G>T c.(208-210)Gct>Tct p.A70S AIFM3_ENST00000399163.2_Missense_Mutation_p.A70S|AIFM3_ENST00000335375.5_Missense_Mutation_p.R94S|AIFM3_ENST00000405089.1_Missense_Mutation_p.A76S|AIFM3_ENST00000440238.2_Missense_Mutation_p.A70S|AIFM3_ENST00000333607.6_Missense_Mutation_p.A70S 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) TTGCGTGGAGGCTGCTGTCTG 0.692000 43 19 2.56662e-36 4.89139e-36 0.013114 1 0 PRUNE2 158471 broad.mit.edu 37 9 79324793 79324793 + Silent SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:79324793G>C ENST00000428286.1 - 8 2520 c.1320C>G c.(1318-1320)gcC>gcG p.A440A PRUNE2_ENST00000376718.3_Silent_p.A799A Q8WUY3 PRUN2_HUMAN prune homolog 2 (Drosophila) 799 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 ATGCACTCCAGGCTGGGAATG 0.507000 18 6 0 0 0.004990 0 0 SLC16A6 9120 broad.mit.edu 37 17 66267011 66267011 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:66267011G>T ENST00000327268.4 - 6 1454 c.1290C>A c.(1288-1290)agC>agA p.S430R ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.S430R NM_001174166.1 NP_001167637.1 O15403 MOT7_HUMAN solute carrier family 16, member 6 430 integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2) 15 all_cancers(12;1.24e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) Pyruvic acid(DB00119) GTCCTGCTATGCTCTGAATGA 0.463000 14 45 1.3612e-06 1.62877e-06 0.003163 1 0 GOLGA3 2802 broad.mit.edu 37 12 133354252 133354252 + Splice_Site SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:133354252T>A ENST00000204726.3 - 19 4280 c.3722_splice c.e19+1 p.Q1241_splice GOLGA3_ENST00000456883.2_Splice_Site_p.Q1241_splice|GOLGA3_ENST00000450791.2_Splice_Site_p.Q1241_splice NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1241 Gln-rich. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) AGGCACTCACTGAAGGTCGTC 0.597000 29 42 0 0 0.008361 0 0 KCNIP4 80333 broad.mit.edu 37 4 21950327 21950327 + Translation_Start_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:21950327C>T ENST00000382152.2 - 0 95 KCNIP4_ENST00000447367.2_De_novo_Start_OutOfFrame NM_025221.5 NP_079497.2 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 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) CGGGTCTGCACGGGAGCGCAC 0.716000 4 8 0 0 0.009096 0 0 ORAOV1 220064 broad.mit.edu 37 11 69488079 69488079 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:69488079C>A ENST00000279147.4 - 2 168 c.61G>T c.(61-63)Gaa>Taa p.E21* ORAOV1_ENST00000535657.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000539414.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000542341.1_Nonsense_Mutation_p.E21*|ORAOV1_ENST00000536870.1_Intron NM_153451.2 NP_703152.1 Q8WV07 ORAV1_HUMAN oral cancer overexpressed 1 21 NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) CGATACCCTTCCCCATGAAAC 0.483000 26 94 6.36457e-07 7.72621e-07 0.003954 1 0 PITX2 5308 broad.mit.edu 37 4 111539292 111539292 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:111539292G>A ENST00000354925.2 - 7 2648 c.943C>T c.(943-945)Cgg>Tgg p.R315W PITX2_ENST00000306732.3_Missense_Mutation_p.R322W|PITX2_ENST00000355080.5_Missense_Mutation_p.R269W|PITX2_ENST00000394598.2_Missense_Mutation_p.R315W|PITX2_ENST00000394595.3_3'UTR NM_001204397.1 NP_001191326.1 Q99697 PITX2_HUMAN paired-like homeodomain 2 315 determination of left/right symmetry|organ morphogenesis transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding p.R315R(1)|p.R322R(1) breast(1)|endometrium(3)|large_intestine(1)|lung(5) 10 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00222) CACACGGGCCGGTCCACTGCA 0.622000 29 8 0 0 0.006320 0 0 CPS1 1373 broad.mit.edu 37 2 211476930 211476930 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:211476930C>T ENST00000233072.5 + 20 2677 c.2481C>T c.(2479-2481)ctC>ctT p.L827L CPS1_ENST00000430249.2_Silent_p.L833L|CPS1_ENST00000451903.2_Silent_p.L376L NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 827 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) CTCCCCGTCTCCCAATGAACA 0.433000 18 45 0 0 0.004990 0 0 OR8D2 283160 broad.mit.edu 37 11 124189924 124189924 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:124189924G>T ENST00000357438.2 - 1 260 c.170C>A c.(169-171)cCt>cAt p.P57H NM_001002918.1 NP_001002918.1 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, member 2 57 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) ATACACTGGAGGGTAAAGTTG 0.443000 14 44 9.05144e-12 1.24868e-11 0.001855 1 0 CXCR1 3577 broad.mit.edu 37 2 219029096 219029096 + Missense_Mutation SNP C C T rs140728083 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:219029096C>T ENST00000295683.2 - 2 959 c.839G>A c.(838-840)cGc>cAc p.R280H NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 280 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 GATGTTGTTGCGGCGCTCACA 0.577000 12 68 0 0 0.010729 0 0 MUC16 94025 broad.mit.edu 37 19 9088849 9088849 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:9088849G>T ENST00000397910.4 - 1 3169 c.2966C>A c.(2965-2967)gCc>gAc p.A989D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 989 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 GAGAGAAGTGGCAGAGGTTGA 0.463000 67 101 2.19297e-23 3.8472e-23 0.003610 1 0 CDK15 65061 broad.mit.edu 37 2 202712183 202712183 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:202712183G>A ENST00000450471.2 + 9 1017 c.931G>A c.(931-933)Gag>Aag p.E311K CDK15_ENST00000260967.2_Missense_Mutation_p.E260K|CDK15_ENST00000410091.3_Missense_Mutation_p.E260K|CDK15_ENST00000434439.1_Missense_Mutation_p.E311K|CDK15_ENST00000374598.4_Missense_Mutation_p.E311K|CDK15_ENST00000488419.1_3'UTR NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 311 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) TGAACAGCTGGAGAAAATCTG 0.383000 22 51 0 0 0.002780 0 0 MUC17 140453 broad.mit.edu 37 7 100686270 100686270 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:100686270C>T ENST00000306151.4 + 3 11637 c.11573C>T c.(11572-11574)cCt>cTt p.P3858L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3858 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TTCTCCATACCTGCTGAAGTC 0.478000 55 40 0 0 0.003610 0 0 LRTM1 57408 broad.mit.edu 37 3 54959164 54959164 + Nonsense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:54959164G>C ENST00000273286.5 - 2 248 c.86C>G c.(85-87)tCa>tGa p.S29* CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_5'UTR|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 29 LRRNT. 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) ATTTGTAGATGACTGACAGTA 0.463000 12 1 0 0 0.010729 0 0 SULF1 23213 broad.mit.edu 37 8 70540099 70540099 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:70540099A>C ENST00000260128.4 + 17 2757 c.2040A>C c.(2038-2040)caA>caC p.Q680H SULF1_ENST00000402687.4_Missense_Mutation_p.Q680H|SULF1_ENST00000458141.2_Missense_Mutation_p.Q680H|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.Q680H NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 680 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) GCAGTAAACAAAGGTGAGCTT 0.408000 86 59 0 0 0.003610 0 0 PRRC2B 84726 broad.mit.edu 37 9 134371220 134371220 + Missense_Mutation SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:134371220A>G ENST00000357304.4 + 31 6704 c.6649A>G c.(6649-6651)Atc>Gtc p.I2217V PRRC2B_ENST00000458550.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000405995.1_Missense_Mutation_p.I1523V|PRRC2B_ENST00000372249.1_3'UTR|PRRC2B_ENST00000465931.1_3'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 2217 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 AACCGGAGCGATCAAGCCTCG 0.632000 13 5 0 0 0.001368 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233928 61233928 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:61233928G>T ENST00000382768.1 + 7 962 c.962G>T c.(961-963)cGg>cTg p.R321L SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 301 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TCCTTCCCCCGGTTCACCCTG 0.448000 180 49 3.55815e-84 7.13907e-84 0.003610 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120298883 120298883 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:120298883C>T ENST00000397843.2 + 8 678 c.512C>T c.(511-513)cCc>cTc p.P171L ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P68L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P152L NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 171 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity p.P171L(1) NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) CATATGTCTCCCATCATGACA 0.498000 T MLL AML 73 60 0 0 0.003610 0 0 PRDM10 56980 broad.mit.edu 37 11 129775622 129775622 + Missense_Mutation SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:129775622T>C ENST00000358825.5 - 21 3421 c.3190A>G c.(3190-3192)Atg>Gtg p.M1064V PRDM10_ENST00000423662.2_Missense_Mutation_p.M965V|PRDM10_ENST00000304538.6_Missense_Mutation_p.M927V|PRDM10_ENST00000528746.1_Missense_Mutation_p.M1021V|PRDM10_ENST00000526082.1_Missense_Mutation_p.M978V|PRDM10_ENST00000360871.3_Missense_Mutation_p.M1060V NM_020228.2 NP_064613.2 Q9NQV6 PRD10_HUMAN PR domain containing 10 1051 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) AGCGTCATCATTTGAATCTCA 0.433000 22 12 0 0 0.012319 0 0 TRIP6 7205 broad.mit.edu 37 7 100469167 100469167 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:100469167C>A ENST00000200457.4 + 7 1362 c.1002C>A c.(1000-1002)gcC>gcA p.A334A NM_003302.2 NP_003293.2 Q15654 TRIP6_HUMAN thyroid hormone receptor interactor 6 334 focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent cytoplasm|cytoskeleton|focal adhesion|nucleus identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5) 14 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCAACAGGCCACCCTGGAGA 0.627000 25 24 9.39395e-14 1.38101e-13 0.006320 1 0 VCPIP1 80124 broad.mit.edu 37 8 67547476 67547476 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:67547476C>A ENST00000310421.4 - 3 3187 c.2929G>T c.(2929-2931)Gat>Tat p.D977Y NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 977 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TTAACTAAATCTTCAACATCA 0.443000 64 160 8.73484e-25 1.55811e-24 0.003610 1 0 OR52N2 390077 broad.mit.edu 37 11 5841936 5841936 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:5841936G>T ENST00000317037.2 + 1 393 c.371G>T c.(370-372)cGc>cTc p.R124L TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCCCTGGACCGCTATGTGGCC 0.542000 21 47 2.08468e-23 3.67161e-23 0.012319 1 0 ANKRD17 26057 broad.mit.edu 37 4 74021863 74021863 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:74021863C>A ENST00000358602.4 - 4 841 c.725G>T c.(724-726)tGt>tTt p.C242F ANKRD17_ENST00000509867.2_Missense_Mutation_p.C129F|ANKRD17_ENST00000330838.6_Missense_Mutation_p.C242F NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 242 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TCCTTCTGAACAGGCTTCTGC 0.378000 14 6 2.31682e-05 2.62211e-05 0.003163 1 0 SETBP1 26040 broad.mit.edu 37 18 42531132 42531132 + Silent SNP C C G rs140403091 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:42531132C>G ENST00000282030.5 + 4 2123 c.1827C>G c.(1825-1827)ccC>ccG p.P609P NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 609 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) CCACCAGCCCCGTCAGTCCCA 0.532000 Schinzel-Giedion syndrome 30 40 0 0 0.007291 0 0 ANKRD24 170961 broad.mit.edu 37 19 4219734 4219734 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:4219734G>T ENST00000600132.1 + 19 3426 c.3150G>T c.(3148-3150)aaG>aaT p.K1050N ANKRD24_ENST00000262970.5_Missense_Mutation_p.K1140N|ANKRD24_ENST00000318934.4_Missense_Mutation_p.K1050N NM_133475.1 NP_597732.1 Q8TF21 ANR24_HUMAN ankyrin repeat domain 24 1050 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 21 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181) CTCTGGACAAGGCCAAGGAGA 0.647000 35 11 4.65686e-17 7.39203e-17 0.003755 1 0 PTPRM 5797 broad.mit.edu 37 18 8253261 8253261 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:8253261T>A ENST00000332175.8 + 17 3601 c.2564T>A c.(2563-2565)cTg>cAg p.L855Q PTPRM_ENST00000400060.4_Missense_Mutation_p.L869Q|PTPRM_ENST00000580170.1_Missense_Mutation_p.L868Q|PTPRM_ENST00000444013.1_Missense_Mutation_p.L642Q|PTPRM_ENST00000400053.4_Missense_Mutation_p.L793Q NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 855 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) ACCAGCAGCCTGGTGCAGTCC 0.592000 7 10 0 0 0.001984 0 0 USH2A 7399 broad.mit.edu 37 1 215853675 215853675 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:215853675G>T ENST00000366943.2 - 62 12496 c.12110C>A c.(12109-12111)aCa>aAa p.T4037K USH2A_ENST00000307340.3_Missense_Mutation_p.T4037K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 4037 Fibronectin type-III 25. 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) GCGATATGTTGTGAATGGTTC 0.398000 HNSCC(13;0.011) 29 59 6.90743e-12 9.57117e-12 0.003755 1 0 RPL31P11 641311 broad.mit.edu 37 1 161654835 161654835 + RNA SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:161654835C>G ENST00000426558.1 - 0 207 NR_002595.1 GTTCCCATCTCCTTCATGCCA 0.512000 11 8 0 0 0.010729 0 0 DYTN 391475 broad.mit.edu 37 2 207516619 207516619 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:207516619G>A ENST00000452335.2 - 12 1776 c.1660C>T c.(1660-1662)Ctg>Ttg p.L554L NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 554 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CCACTGTACAGGTCCATGTTT 0.463000 17 31 0 0 0.004990 0 0 TRPS1 7227 broad.mit.edu 37 8 116631772 116631772 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:116631772C>A ENST00000395715.3 - 3 1130 c.553G>T c.(553-555)Gcc>Tcc p.A185S TRPS1_ENST00000519674.1_Missense_Mutation_p.A172S|TRPS1_ENST00000519076.1_Missense_Mutation_p.A126S|TRPS1_ENST00000520276.1_Missense_Mutation_p.A176S|TRPS1_ENST00000220888.5_Missense_Mutation_p.A172S NM_014112.2 NP_054831.2 Q9UHF7 TRPS1_HUMAN trichorhinophalangeal syndrome I 172 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 111 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGACAATTGGCTTGACCACTC 0.488000 Langer-Giedion syndrome 48 129 8.72198e-27 1.58054e-26 0.003610 1 0 ACO1 48 broad.mit.edu 37 9 32430486 32430486 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:32430486G>A ENST00000379923.1 + 15 1846 c.1640G>A c.(1639-1641)cGg>cAg p.R547Q ACO1_ENST00000541043.1_Missense_Mutation_p.R448Q|ACO1_ENST00000309951.5_Missense_Mutation_p.R547Q NM_001278352.1 NP_001265281.1 P21399 ACOC_HUMAN aconitase 1, soluble 547 citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) CCCAACACCCGGGCCAACTAT 0.448000 21 58 0 0 0.012319 0 0 CACNA1C 775 broad.mit.edu 37 12 2705067 2705067 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:2705067C>T ENST00000399655.1 + 20 2956 c.2691C>T c.(2689-2691)gtC>gtT p.V897V CACNA1C_ENST00000399634.1_Silent_p.V897V|CACNA1C_ENST00000399603.1_Silent_p.V897V|CACNA1C_ENST00000399595.1_Silent_p.V897V|CACNA1C_ENST00000399629.1_Silent_p.V897V|CACNA1C_ENST00000480911.1_Silent_p.V897V|CACNA1C_ENST00000335762.5_Silent_p.V922V|CACNA1C_ENST00000399641.1_Silent_p.V897V|CACNA1C_ENST00000399621.1_Silent_p.V897V|CACNA1C_ENST00000399649.1_Silent_p.V897V|CACNA1C_ENST00000327702.7_Silent_p.V897V|CACNA1C_ENST00000399597.1_Silent_p.V897V|CACNA1C_ENST00000347598.4_Silent_p.V897V|CACNA1C_ENST00000402845.3_Silent_p.V897V|CACNA1C_ENST00000344100.3_Silent_p.V897V|CACNA1C_ENST00000399601.1_Silent_p.V897V|CACNA1C_ENST00000399591.1_Silent_p.V897V|CACNA1C_ENST00000406454.3_Silent_p.V897V|CACNA1C_ENST00000399644.1_Silent_p.V897V|CACNA1C_ENST00000399638.1_Silent_p.V897V|CACNA1C_ENST00000399606.1_Silent_p.V897V|CACNA1C_ENST00000399617.1_Silent_p.V897V|CACNA1C_ENST00000399637.1_Silent_p.V897V 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 897 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) ACCGCATTGTCAATGACACGA 0.572000 11 69 0 0 0.008291 0 0 TGM1 7051 broad.mit.edu 37 14 24729776 24729776 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:24729776G>A ENST00000206765.6 - 4 760 c.637C>T c.(637-639)Ccc>Tcc p.P213S TGM1_ENST00000544573.1_Intron NM_000359.2 NP_000350.1 P22735 TGM1_HUMAN transglutaminase 1 213 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2) 24 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) ATGGCGTTGGGGGAAGTGTGG 0.587000 52 39 0 0 0.003610 0 0 KRT72 140807 broad.mit.edu 37 12 52981443 52981443 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:52981443G>T ENST00000293745.2 - 7 1367 c.1282C>A c.(1282-1284)Cgc>Agc p.R428S KRT72_ENST00000537672.2_Missense_Mutation_p.R428S|KRT72_ENST00000354310.4_Missense_Mutation_p.R386S|KRT72_ENST00000398066.3_Missense_Mutation_p.R240S NM_080747.2 NP_542785.1 Q14CN4 K2C72_HUMAN keratin 72 428 Coil 2.|Rod. R -> L (in dbSNP:rs11170183). keratin filament structural molecule activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(357;0.195) AGCAGCTTGCGGTAGGTGGCG 0.612000 63 82 2.89935e-36 5.51713e-36 0.003610 1 0 IQCE 23288 broad.mit.edu 37 7 2608599 2608599 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:2608599G>T ENST00000402050.2 + 3 280 c.96G>T c.(94-96)agG>agT p.R32S IQCE_ENST00000325979.7_Intron|IQCE_ENST00000438376.2_Missense_Mutation_p.R16S|IQCE_ENST00000404984.1_Intron NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 32 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) AAGCAAAAAGGAAAGCTTTCC 0.512000 27 12 1.42536e-11 1.95558e-11 0.004656 1 0 TG 7038 broad.mit.edu 37 8 134145856 134145856 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:134145856G>T ENST00000220616.4 + 47 8180 c.8140G>T c.(8140-8142)Gac>Tac p.D2714Y TG_ENST00000542445.1_Missense_Mutation_p.D1084Y|TG_ENST00000377869.1_Missense_Mutation_p.D2657Y|TG_ENST00000519543.1_Missense_Mutation_p.D847Y NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 2714 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) GAAGAAAGCCGACTGCTCCTT 0.547000 10 71 0.000442599 0.000475188 0.006214 1 0 PLCH2 9651 broad.mit.edu 37 1 2435900 2435900 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:2435900C>G ENST00000419816.2 + 22 3773 c.3499C>G c.(3499-3501)Cgc>Ggc p.R1167G PLCH2_ENST00000378486.3_Missense_Mutation_p.R1167G|PLCH2_ENST00000449969.1_3'UTR|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1131G|PLCH2_ENST00000378483.2_3'UTR O75038 PLCH2_HUMAN phospholipase C, eta 2 1167 intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGGCCTGGGCCGCAGCCGTGA 0.677000 21 45 0 0 0.008871 0 0 UNC13B 10497 broad.mit.edu 37 9 35403172 35403172 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:35403172G>T ENST00000378495.3 + 37 4468 c.4246G>T c.(4246-4248)Gtg>Ttg p.V1416L UNC13B_ENST00000396787.1_Missense_Mutation_p.V1447L|UNC13B_ENST00000378496.4_Missense_Mutation_p.V1435L NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1416 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) AGGGTCTGGTGTGGACGATCC 0.512000 31 26 3.90053e-15 5.94321e-15 0.012213 1 0 MAGEC1 9947 broad.mit.edu 37 X 140994417 140994417 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:140994417G>C ENST00000285879.4 + 4 1513 c.1227G>C c.(1225-1227)caG>caC p.Q409H MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 409 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) CTCCTCTCCAGATTCCTATGA 0.483000 HNSCC(15;0.026) 128 111 0 0 0.003610 0 0 HEATR2 54919 broad.mit.edu 37 7 803566 803566 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:803566C>T ENST00000297440.6 + 8 1758 c.1738C>T c.(1738-1740)Cac>Tac p.H580Y HEATR2_ENST00000313147.5_Missense_Mutation_p.H580Y NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 580 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CTGGACCGCACACTCGCCGGA 0.662000 27 118 0 0 0.007291 0 0 POP1 10940 broad.mit.edu 37 8 99135611 99135611 + Nonsense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:99135611C>T ENST00000401707.2 + 2 127 c.46C>T c.(46-48)Cag>Tag p.Q16* POP1_ENST00000349693.3_Nonsense_Mutation_p.Q16* NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 16 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AATGAGAAACCAGCCTACCAA 0.403000 7 66 0 0 0.001984 0 0 TRBV2 28620 broad.mit.edu 37 7 142001199 142001199 + RNA SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:142001199G>T ENST00000455382.2 + 0 365 TCACTCTGAAGATCCGGTCCA 0.438000 8 8 5.18039e-06 6.05425e-06 0.003080 1 0 ZIC3 7547 broad.mit.edu 37 X 136649221 136649221 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:136649221G>T ENST00000287538.5 + 1 921 c.371G>T c.(370-372)aGc>aTc p.S124I ZIC3_ENST00000370606.3_Missense_Mutation_p.S124I NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 124 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CGCCAGCGCAGCTCCGGGCTC 0.692000 6 2 0.00116845 0.00123857 0.001168 1 0 PTCH2 8643 broad.mit.edu 37 1 45292949 45292949 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:45292949A>T ENST00000447098.2 - 16 2415 c.2404T>A c.(2404-2406)Tct>Act p.S802T PTCH2_ENST00000372192.3_Missense_Mutation_p.S802T NM_001166292.1 NP_001159764.1 Q9Y6C5 PTC2_HUMAN patched 2 802 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) ATGCGCCCAGAAGCCCAGTCC 0.632000 Basal Cell Nevus syndrome 41 37 0 0 0.009718 0 0 ZNF621 285268 broad.mit.edu 37 3 40573785 40573785 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:40573785G>T ENST00000339296.5 + 5 976 c.524G>T c.(523-525)gGg>gTg p.G175V ZNF621_ENST00000431278.1_Missense_Mutation_p.G64V|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.G175V NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 175 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) AGTCATACTGGGGAAAAGCCC 0.403000 23 6 2.89027e-11 3.91827e-11 0.002299 1 0 TUBB1 81027 broad.mit.edu 37 20 57597947 57597947 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:57597947C>A ENST00000217133.1 + 2 374 c.105C>A c.(103-105)agC>agA p.S35R NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 35 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) TGGCTGGGAGCGACCGCGGGG 0.587000 14 36 1.5739e-10 2.09075e-10 0.004007 1 0 DPY19L2P2 349152 broad.mit.edu 37 7 102898120 102898120 + RNA SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:102898120C>A ENST00000312132.4 - 0 2452 GTTTCTAGTCCAAATAAATTC 0.353000 4 38 0.00909568 0.0094577 0.009096 1 0 PAX1 5075 broad.mit.edu 37 20 21689880 21689880 + Silent SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:21689880C>G ENST00000398485.2 + 4 1134 c.1080C>G c.(1078-1080)gcC>gcG p.A360A PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.A336A NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 360 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CCCTCTCTGCCGTGGGCGGCT 0.697000 65 122 0 0 0.003610 0 0 C9 735 broad.mit.edu 37 5 39316073 39316073 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:39316073T>A ENST00000263408.4 - 6 769 c.674A>T c.(673-675)aAa>aTa p.K225I C9_ENST00000509186.1_5'UTR NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 225 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) GATGATACTTTTAAATGCTTC 0.308000 7 78 0 0 0.001984 0 0 OR52I1 390037 broad.mit.edu 37 11 4615655 4615655 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:4615655C>T ENST00000450052.2 + 2 459 c.459C>T c.(457-459)gcC>gcT p.A153A OR52I1_ENST00000530443.2_Silent_p.A129A Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, member 1 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 15 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GCTATGTAGCCATCTGCAAGC 0.498000 15 32 0 0 0.012319 0 0 MYO3B 140469 broad.mit.edu 37 2 171238560 171238560 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:171238560G>T ENST00000334231.6 + 10 1033 c.1033G>T c.(1033-1035)Gtg>Ttg p.V345L MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.V336L|MYO3B_ENST00000409044.3_Missense_Mutation_p.V336L Q8WXR4 MYO3B_HUMAN myosin IIIB 336 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 ACCTTATCATGTGGAAGATGC 0.383000 10 41 3.86212e-05 4.32419e-05 0.008291 1 0 MXRA5 25878 broad.mit.edu 37 X 3235641 3235641 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:3235641G>T ENST00000217939.6 - 6 6235 c.6081C>A c.(6079-6081)gcC>gcA p.A2027A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2027 Ig-like C2-type 4. 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) CTGCATTGCTGGCCACGCACT 0.647000 23 14 1.64293e-13 2.38178e-13 0.003330 1 0 BTAF1 9044 broad.mit.edu 37 10 93773444 93773444 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:93773444G>T ENST00000265990.6 + 31 4640 c.4332G>T c.(4330-4332)tgG>tgT p.W1444C BTAF1_ENST00000544642.1_Missense_Mutation_p.W272C NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1444 Helicase ATP-binding. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) TGGAGCTGTGGTCATTATTTG 0.383000 39 28 4.67007e-22 8.05538e-22 0.008740 1 0 PCDHA7 56141 broad.mit.edu 37 5 140216116 140216116 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:140216116G>T ENST00000525929.1 + 1 2148 c.2148G>T c.(2146-2148)ctG>ctT p.L716L PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L716L|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTACCCTGCTGCTGTACACGG 0.612000 46 12 1.23713e-20 2.08797e-20 0.003610 1 0 TENM4 26011 broad.mit.edu 37 11 78369639 78369639 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:78369639G>T ENST00000278550.7 - 34 8236 c.7774C>A c.(7774-7776)Cga>Aga p.R2592R NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 p.R2592*(2) GCAACCCTTCGCCCATCCTCA 0.527000 17 24 1.45105e-14 2.1818e-14 0.006122 1 0 GPR78 27201 broad.mit.edu 37 4 8588916 8588916 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:8588916C>A ENST00000382487.4 + 3 1335 c.918C>A c.(916-918)gcC>gcA p.A306A GPR78_ENST00000509216.1_3'UTR NM_080819.4 NP_543009.2 Q96P69 GPR78_HUMAN G protein-coupled receptor 78 306 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A306A(1) central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 AAGTCCTGGCCGGCATGGTGC 0.652000 26 13 8.24728e-16 1.28473e-15 0.004656 1 0 UBC 7316 broad.mit.edu 37 12 125396341 125396341 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:125396341T>A ENST00000536769.1 - 1 3553 c.1977A>T c.(1975-1977)gaA>gaT p.E659D UBC_ENST00000339647.5_Missense_Mutation_p.E659D|UBC_ENST00000538617.1_Missense_Mutation_p.E279D|UBC_ENST00000546120.1_Missense_Mutation_p.E583D P0CG48 UBC_HUMAN ubiquitin C 659 Ubiquitin-like 9. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) TGCGTCCATCTTCCAGCTGTT 0.507000 44 212 0 0 0.011902 0 0 PI15 51050 broad.mit.edu 37 8 75756325 75756325 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:75756325G>T ENST00000260113.2 + 3 562 c.383G>T c.(382-384)cGc>cTc p.R128L RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128L NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 128 extracellular region peptidase inhibitor activity p.R128H(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) CTATCTGTACGCACTGGAAGG 0.408000 21 249 1.42536e-11 1.95558e-11 0.004656 1 0 HMCN1 83872 broad.mit.edu 37 1 186120336 186120336 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:186120336G>T ENST00000271588.4 + 94 14842 c.14613G>T c.(14611-14613)ggG>ggT p.G4871G HMCN1_ENST00000367492.2_Silent_p.G4871G NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 4871 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAATAGGTGGGCCCCAGCGAG 0.398000 26 71 2.41591e-17 3.87608e-17 0.004656 1 0 CACNG4 27092 broad.mit.edu 37 17 65021095 65021095 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:65021095G>T ENST00000262138.3 + 3 426 c.424G>T c.(424-426)Ggc>Tgc p.G142C NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 142 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity p.G142S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) CCTCAGTGCCGGCATCCTCTT 0.662000 18 41 1.33834e-09 1.73734e-09 0.007413 1 0 CTNND2 1501 broad.mit.edu 37 5 11364904 11364904 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:11364904C>A ENST00000304623.8 - 8 1465 c.1276G>T c.(1276-1278)Gac>Tac p.D426Y CTNND2_ENST00000359640.2_Missense_Mutation_p.D426Y|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.D89Y|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.D335Y NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 426 D -> V (in Ref. 1; AAC63103). multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding 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 TAGACGCGGTCTTCATAGATG 0.627000 194 54 9.97002e-88 2.00359e-87 0.003610 1 0 RUNX1T1 862 broad.mit.edu 37 8 92972709 92972709 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:92972709A>T ENST00000523629.1 - 12 2030 c.1576T>A c.(1576-1578)Tgc>Agc p.C526S RUNX1T1_ENST00000265814.3_Missense_Mutation_p.C526S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.C489S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.C499S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.C537S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.C489S|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.C489S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.C499S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 526 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CAGCCACTGCAGGTTTCACTC 0.493000 11 100 0 0 0.010729 0 0 CDH20 28316 broad.mit.edu 37 18 59203799 59203799 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:59203799G>T ENST00000262717.4 + 8 1743 c.1345G>T c.(1345-1347)Gca>Tca p.A449S CDH20_ENST00000538374.1_Missense_Mutation_p.A449S|CDH20_ENST00000536675.2_Missense_Mutation_p.A449S Q9HBT6 CAD20_HUMAN cadherin 20, type 2 449 Cadherin 4. 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) CCTAATGACAGCAAGACCCCT 0.423000 48 47 1.76056e-25 3.16749e-25 0.011902 1 0 ZW10 9183 broad.mit.edu 37 11 113631282 113631282 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:113631282C>G ENST00000200135.3 - 4 517 c.373G>C c.(373-375)Gca>Cca p.A125P NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 125 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TCTGTTAATGCACAATTATAT 0.343000 20 86 0 0 0.008871 0 0 CEP350 9857 broad.mit.edu 37 1 180006120 180006120 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:180006120C>G ENST00000367607.3 + 17 4424 c.4006C>G c.(4006-4008)Ctg>Gtg p.L1336V NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 1336 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ACTCAGTTATCTGAACGCCAT 0.468000 4 8 0 0 0.009096 0 0 COX5A 9377 broad.mit.edu 37 15 75221558 75221558 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:75221558C>T ENST00000322347.6 - 2 269 c.116G>A c.(115-117)cGc>cAc p.R39H COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000567270.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.R39H|COX5A_ENST00000564811.1_Missense_Mutation_p.R39H|COX5A_ENST00000562233.1_Missense_Mutation_p.R39H NM_004255.3 NP_004246.2 P20674 COX5A_HUMAN cytochrome c oxidase subunit Va 39 respiratory electron transport chain mitochondrial inner membrane cytochrome-c oxidase activity|electron carrier activity|metal ion binding endometrium(1)|large_intestine(1)|pancreas(1) 3 GGAATAGCAGCGAACTGACTG 0.383000 35 34 0 0 0.004289 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47370295 47370295 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr22:47370295G>T ENST00000337137.4 + 9 1291 c.1125_splice c.e9+1 p.Q375_splice TBC1D22A_ENST00000355704.3_Splice_Site_p.Q297_splice|TBC1D22A_ENST00000406733.1_Splice_Site_p.Q328_splice|TBC1D22A_ENST00000407381.3_Splice_Site_p.Q316_splice NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 375 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) ATGGCATTCAGGTGAGCGCCC 0.657000 11 1 0.00010058 0.00011093 0.001368 1 0 KCNG1 3755 broad.mit.edu 37 20 49620679 49620679 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:49620679C>T ENST00000371571.4 - 3 1724 c.1439G>A c.(1438-1440)cGg>cAg p.R480Q RP5-955M13.3_ENST00000506387.1_RNA|RP5-955M13.4_ENST00000424566.1_RNA NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 480 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CTGCGCCCTCCGGAACATCAC 0.572000 14 40 0 0 0.002450 0 0 DSC3 1825 broad.mit.edu 37 18 28587018 28587018 + Nonsense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:28587018A>T ENST00000434452.1 - 12 1897 c.1743T>A c.(1741-1743)taT>taA p.Y581* DSC3_ENST00000360428.4_Nonsense_Mutation_p.Y581* NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 581 Cadherin 5. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) AAATGACTACATATTCTTGAA 0.373000 27 40 0 0 0.003954 0 0 GPR125 166647 broad.mit.edu 37 4 22389609 22389609 + Nonsense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:22389609C>A ENST00000334304.5 - 19 3954 c.3685G>T c.(3685-3687)Gag>Tag p.E1229* GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1229 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TACTGTCTCTCTCTGTAGGCT 0.493000 20 82 1.96292e-10 2.59927e-10 0.010504 1 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158787225 158787225 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:158787225C>A ENST00000485419.1 + 1 173 c.4C>A c.(4-6)Cgt>Agt p.R2S IQCJ_ENST00000451172.1_Missense_Mutation_p.R2S|IQCJ_ENST00000397832.2_Missense_Mutation_p.R2S|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.R2S|IQCJ_ENST00000482126.1_Missense_Mutation_p.R2S|IQCJ_ENST00000481796.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 CTTCAAAATGCGTCTGGTAAT 0.408000 14 45 1.02788e-11 1.41334e-11 0.004990 1 0 CSMD2 114784 broad.mit.edu 37 1 33992820 33992820 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:33992820C>T ENST00000373381.4 - 65 10386 c.10210G>A c.(10210-10212)Gag>Aag p.E3404K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3260 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) AGCGGTGGCTCCCGGGCAGTG 0.507000 12 35 0 0 0.001855 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995855 57995855 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:57995855C>T ENST00000316770.2 - 1 535 c.493G>A c.(493-495)Gcc>Acc p.A165T NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) AAGATTAAGGCGGTGAGCTGC 0.652000 6 22 0 0 0.001168 0 0 DYTN 391475 broad.mit.edu 37 2 207569613 207569613 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:207569613C>A ENST00000452335.2 - 5 553 c.437G>T c.(436-438)cGc>cTc p.R146L DYTN_ENST00000477734.1_5'UTR NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 146 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TCGAGTCATGCGTGGCCCAGA 0.373000 4 21 0.00024832 0.000269371 0.009096 1 0 ZNF775 285971 broad.mit.edu 37 7 150093882 150093882 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:150093882G>T ENST00000329630.5 + 3 420 c.313G>T c.(313-315)Ggt>Tgt p.G105C NM_173680.3 NP_775951.2 Q96BV0 ZN775_HUMAN zinc finger protein 775 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1) 11 Ovarian(565;0.183)|Melanoma(164;0.226) OV - Ovarian serous cystadenocarcinoma(82;0.0173) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCCGGCGAGGGTCACTTTGT 0.687000 7 10 8.12818e-05 8.99624e-05 0.001984 1 0 NCOA2 10499 broad.mit.edu 37 8 71071833 71071833 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:71071833C>A ENST00000452400.2 - 10 1212 c.1031G>T c.(1030-1032)gGc>gTc p.G344V NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 344 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) AACAAGAGTGCCATCAGACAA 0.398000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 43 130 8.69298e-16 1.34913e-15 0.006999 1 0 COL27A1 85301 broad.mit.edu 37 9 117020860 117020860 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:117020860G>T ENST00000356083.3 + 28 3572 c.3181G>T c.(3181-3183)Gca>Tca p.A1061S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1061 Collagen-like 7.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 CATGAGGGGAGCAAAGGGACG 0.622000 12 6 1.15088e-07 1.42187e-07 0.004007 1 0 PZP 5858 broad.mit.edu 37 12 9312930 9312930 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:9312930G>A ENST00000261336.2 - 24 3057 c.3029C>T c.(3028-3030)gCc>gTc p.A1010V PZP_ENST00000381997.2_Missense_Mutation_p.A796V NM_002864.2 NP_002855.2 pregnancy-zone protein breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 ATAGCCAACGGCCTTGGCCTT 0.403000 69 14 0 0 0.003610 0 0 SPOCD1 90853 broad.mit.edu 37 1 32267264 32267264 + Splice_Site SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:32267264C>T ENST00000360482.2 - 3 1555 c.e3+1 SPOCD1_ENST00000533231.1_Splice_Site|SPOCD1_ENST00000257100.3_Splice_Site|SPOCD1_ENST00000373648.2_Splice_Site NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 transcription, DNA-dependent p.?(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) TAAAAACCTACGTAGCACACA 0.502000 10 50 0 0 0.006214 0 0 NAV2 89797 broad.mit.edu 37 11 19854036 19854036 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:19854036A>T ENST00000396085.1 + 2 635 c.274A>T c.(274-276)Aca>Tca p.T92S NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000396087.3_Missense_Mutation_p.T92S|NAV2_ENST00000540292.1_Missense_Mutation_p.T23S|NAV2_ENST00000349880.4_Missense_Mutation_p.T92S|NAV2_ENST00000527559.2_Missense_Mutation_p.T21S|NAV2_ENST00000360655.4_Missense_Mutation_p.T28S NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 92 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 ACAGATCTACACAGACTGGGC 0.542000 53 64 0 0 0.003610 0 0 AGPAT1 10554 broad.mit.edu 37 6 32138714 32138714 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:32138714C>A ENST00000395499.1 - 3 913 c.334_splice c.e3+1 p.G112_splice PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375104.2_Splice_Site_p.G112_splice|AGPAT1_ENST00000412465.2_Intron|AGPAT1_ENST00000375107.3_Splice_Site_p.G112_splice|AGPAT1_ENST00000395497.1_Splice_Site_p.G112_splice|AGPAT1_ENST00000336984.6_Splice_Site_p.G112_splice|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000395496.1_Splice_Site_p.G112_splice Q99943 PLCA_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 1 112 energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2) 12 GGGGTCTCACCAAGCAGATCG 0.587000 90 23 1.80868e-48 3.55499e-48 0.003610 1 0 SCML2 10389 broad.mit.edu 37 X 18323337 18323337 + Splice_Site SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:18323337T>C ENST00000251900.4 - 7 646 c.e7-2 NM_006089.2 NP_006080.1 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 (Drosophila) anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 36 Hepatocellular(33;0.183) TGGTGGTTCCTATCAAAACAT 0.373000 34 16 0 0 0.003271 0 0 CFAP54 144535 broad.mit.edu 37 12 97078951 97078951 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:97078951G>T ENST00000524981.3 + 9 1302 c.1302G>T c.(1300-1302)gaG>gaT p.E434D Q6ZTY8 CL063_HUMAN 408 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 ACAGTGAGGAGTTTCTGTCAA 0.493000 24 29 3.6726e-16 5.77123e-16 0.003954 1 0 NEK11 79858 broad.mit.edu 37 3 130799421 130799421 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:130799421G>T ENST00000383366.4 + 4 618 c.325G>T c.(325-327)Gag>Tag p.E109* NEK11_ENST00000507910.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000510688.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000429253.2_Nonsense_Mutation_p.E109*|NEK11_ENST00000412440.2_Intron|NEK11_ENST00000510769.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000511262.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000508196.1_Nonsense_Mutation_p.E109*|NEK11_ENST00000356918.4_Nonsense_Mutation_p.E109* NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 109 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CATTATCACGGAGTACTGTGA 0.418000 6 11 0.00116845 0.00123857 0.001168 1 0 ABL2 27 broad.mit.edu 37 1 179095711 179095711 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:179095711G>T ENST00000502732.1 - 4 691 c.488C>A c.(487-489)aCc>aAc p.T163N ABL2_ENST00000512653.1_Missense_Mutation_p.T148N|ABL2_ENST00000344730.3_Missense_Mutation_p.T148N|ABL2_ENST00000408940.3_Missense_Mutation_p.T127N|ABL2_ENST00000507173.1_Missense_Mutation_p.T142N|ABL2_ENST00000367623.4_Missense_Mutation_p.T142N|ABL2_ENST00000511413.1_Missense_Mutation_p.T163N|ABL2_ENST00000392043.3_Missense_Mutation_p.T142N|ABL2_ENST00000504405.1_Missense_Mutation_p.T127N NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3 NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1 P42684 ABL2_HUMAN c-abl oncogene 2, non-receptor tyrosine kinase 163 SH3. axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 65 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GTTCACTGGGGTGATGTAGTT 0.517000 T ETV6 AML 24 64 1.85244e-09 2.40223e-09 0.003330 1 0 RNGTT 8732 broad.mit.edu 37 6 89600240 89600240 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:89600240T>A ENST00000369485.4 - 8 1056 c.870A>T c.(868-870)aaA>aaT p.K290N RNGTT_ENST00000538899.1_Missense_Mutation_p.K230N|RNGTT_ENST00000369475.3_Missense_Mutation_p.K290N|RNGTT_ENST00000265607.6_Missense_Mutation_p.K290N NM_003800.3 NP_003791.3 O60942 MCE1_HUMAN RNA guanylyltransferase and 5'-phosphatase 290 GTase. interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 21 all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05) BRCA - Breast invasive adenocarcinoma(108;0.151) TCCAGCTTACTTTGTATGGCT 0.348000 11 6 0 0 0.010729 0 0 MARCH11 441061 broad.mit.edu 37 5 16067808 16067808 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:16067808G>T ENST00000332432.8 - 4 1180 c.981C>A c.(979-981)gcC>gcA p.A327A NM_001102562.1 NP_001096032.1 A6NNE9 MARHB_HUMAN membrane-associated ring finger (C3HC4) 11 327 cytoplasmic vesicle membrane|integral to membrane ligase activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1) 20 CGATGTCTGTGGCTTTGTCAT 0.473000 35 51 9.78485e-24 1.7282e-23 0.002836 1 0 LRP1B 53353 broad.mit.edu 37 2 141143466 141143466 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:141143466G>T ENST00000389484.3 - 67 11498 c.10527C>A c.(10525-10527)aaC>aaA p.N3509K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3509 LDL-receptor class A 25. 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) ACTTACTACAGTTTTCTTCAT 0.378000 TSP Lung(27;0.18) 10 39 0.000442599 0.000475188 0.006214 1 0 OR5D18 219438 broad.mit.edu 37 11 55587976 55587976 + Missense_Mutation SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:55587976T>A ENST00000333976.4 + 1 891 c.871T>A c.(871-873)Tac>Aac p.Y291N NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 291 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) TCCCCTGATCTACAGTCTGAG 0.458000 34 33 0 0 0.002836 0 0 ROBO2 6092 broad.mit.edu 37 3 77671422 77671422 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:77671422C>A ENST00000461745.1 + 23 4499 c.3599C>A c.(3598-3600)cCg>cAg p.P1200Q ROBO2_ENST00000332191.8_Missense_Mutation_p.P1200Q|ROBO2_ENST00000487694.3_Missense_Mutation_p.P1216Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1200 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) CCAGTTCCACCGTTAGGTTAT 0.408000 39 35 2.66277e-13 3.81177e-13 0.006999 1 0 BZRAP1 9256 broad.mit.edu 37 17 56386583 56386583 + Silent SNP T T A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:56386583T>A ENST00000355701.3 - 22 4920 c.4050A>T c.(4048-4050)gcA>gcT p.A1350A BZRAP1_ENST00000268893.6_Silent_p.A1290A|BZRAP1_ENST00000343736.4_Silent_p.A1350A NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1350 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) AAGAACAGCCTGCCCCTGAct 0.617000 17 32 0 0 0.004007 0 0 PTPN14 5784 broad.mit.edu 37 1 214546179 214546179 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:214546179C>A ENST00000366956.5 - 16 3105 c.2911G>T c.(2911-2913)Gtg>Ttg p.V971L PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 971 Tyrosine-protein phosphatase. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCGCCAACCACCACCTAAAAA 0.522000 25 16 9.57634e-11 1.28161e-10 0.003330 1 0 CASKIN1 57524 broad.mit.edu 37 16 2237441 2237441 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:2237441G>A ENST00000343516.6 - 7 731 c.639C>T c.(637-639)atC>atT p.I213I NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 213 signal transduction cytoplasm breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 GGTTAATGTCGATGCCGGCTT 0.677000 17 22 0 0 0.004990 0 0 PLK4 10733 broad.mit.edu 37 4 128804507 128804507 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:128804507T>C ENST00000270861.5 + 3 491 c.217T>C c.(217-219)Ttg>Ctg p.L73L PLK4_ENST00000511942.1_3'UTR|PLK4_ENST00000515069.1_Silent_p.L73L|PLK4_ENST00000513090.1_Intron|PLK4_ENST00000507249.1_Silent_p.L73L|PLK4_ENST00000514379.1_Silent_p.L32L NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 73 Protein kinase. G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TCCTTCTATCTTGGAGGTAAG 0.303000 9 16 0 0 0.004482 0 0 MATN4 8785 broad.mit.edu 37 20 43932928 43932928 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:43932928G>C ENST00000537548.1 - 4 827 c.583C>G c.(583-585)Ctc>Gtc p.L195V MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Missense_Mutation_p.L195V|MATN4_ENST00000372756.1_Missense_Mutation_p.L195V|MATN4_ENST00000342716.4_Missense_Mutation_p.L195V|MATN4_ENST00000372754.1_Missense_Mutation_p.L195V|MATN4_ENST00000353917.5_Missense_Mutation_p.L195V O95460 MATN4_HUMAN matrilin 4 195 VWFA 1. extracellular region protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Myeloproliferative disorder(115;0.0122) GACTCTACGAGGAAGACGTGC 0.647000 10 37 0 0 0.001368 0 0 HCN1 348980 broad.mit.edu 37 5 45303797 45303797 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:45303797C>A ENST00000303230.4 - 6 1579 c.1522G>T c.(1522-1524)Gtg>Ttg p.V508L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 508 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.V508M(1) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TTTTTACCCACGGCTCCTTCT 0.393000 22 68 1.28384e-07 1.58302e-07 0.012319 1 0 FST 10468 broad.mit.edu 37 5 52780023 52780023 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:52780023T>C ENST00000396947.3 + 4 787 c.621T>C c.(619-621)tgT>tgC p.C207C FST_ENST00000256759.3_Silent_p.C207C NM_006350.3 NP_006341.1 P19883 FST_HUMAN follistatin 207 Kazal-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1) 15 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) AATATCTCTGTGGGAATGATG 0.517000 43 70 0 0 0.010771 0 0 F13B 2165 broad.mit.edu 37 1 197029495 197029495 + Splice_Site SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:197029495C>A ENST00000367412.1 - 5 849 c.e5+1 NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 TAAAAATTTACCTTCGCATAC 0.318000 25 35 7.01153e-11 9.4037e-11 0.007291 1 0 FOXN4 121643 broad.mit.edu 37 12 109719578 109719578 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:109719578G>T ENST00000299162.5 - 9 1032 c.928C>A c.(928-930)Cgg>Agg p.R310R FOXN4_ENST00000355216.1_Silent_p.R130R NM_213596.2 NP_998761.2 Q96NZ1 FOXN4_HUMAN forkhead box N4 310 axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding large_intestine(5)|lung(9)|ovary(2) 16 CTTTCAGGCCGGTCGGAGATC 0.667000 23 19 1.64293e-13 2.38178e-13 0.003330 1 0 OR5D18 219438 broad.mit.edu 37 11 55587975 55587975 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:55587975C>T ENST00000333976.4 + 1 890 c.870C>T c.(868-870)atC>atT p.I290I NM_001001952.1 NP_001001952.1 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, member 18 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ATCCCCTGATCTACAGTCTGA 0.453000 33 33 0 0 0.012213 0 0 RBMS1 5937 broad.mit.edu 37 2 161143570 161143570 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:161143570C>A ENST00000348849.3 - 7 1096 c.666G>T c.(664-666)aaG>aaT p.K222N RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000392753.3_Missense_Mutation_p.K222N|RBMS1_ENST00000409075.1_Missense_Mutation_p.K189N|RBMS1_ENST00000409972.1_Missense_Mutation_p.K189N|RBMS1_ENST00000409289.2_Missense_Mutation_p.K189N NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 222 RRM 2. DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) CATCAGCAAACTTACACAATA 0.373000 119 121 6.92432e-61 1.37391e-60 0.003610 1 0 TP53 7157 broad.mit.edu 37 17 7579361 7579361 + Missense_Mutation SNP A A C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:7579361A>C ENST00000420246.2 - 4 458 c.326T>G c.(325-327)tTc>tGc p.F109C TP53_ENST00000359597.4_Missense_Mutation_p.F109C|TP53_ENST00000445888.2_Missense_Mutation_p.F109C|TP53_ENST00000455263.2_Missense_Mutation_p.F109C|TP53_ENST00000413465.2_Missense_Mutation_p.F109C|TP53_ENST00000269305.4_Missense_Mutation_p.F109C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 109 Interaction with HIPK1 (By similarity).|Interaction with WWOX. F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCCCAGACGGAAACCGTAGCT 0.612000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 55 13 0 0 0.003610 0 0 COL4A3 1285 broad.mit.edu 37 2 228168586 228168586 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:228168586A>T ENST00000396578.3 + 45 4129 c.3967A>T c.(3967-3969)Aat>Tat p.N1323Y COL4A3_ENST00000468753.1_3'UTR|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1323 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) AGAAAAGGGTAATCCTGGATT 0.408000 7 37 0 0 0.003080 0 0 OR11L1 391189 broad.mit.edu 37 1 248004346 248004346 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:248004346G>C ENST00000355784.2 - 1 908 c.853C>G c.(853-855)Ctg>Gtg p.L285V NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ACTGGGTTCAGCAGTGGTGTG 0.438000 28 26 0 0 0.006320 0 0 PAOX 196743 broad.mit.edu 37 10 135193899 135193899 + Missense_Mutation SNP G G C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr10:135193899G>C ENST00000278060.5 + 2 661 c.578G>C c.(577-579)tGt>tCt p.C193S PAOX_ENST00000368539.4_Intron|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Missense_Mutation_p.C193S|PAOX_ENST00000480071.2_Missense_Mutation_p.C193S NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 331 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) CTGGAATGCTGTGTGAGCGGC 0.602000 16 21 0 0 0.003163 0 0 SLIT3 6586 broad.mit.edu 37 5 168096807 168096807 + Silent SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:168096807G>A ENST00000519560.1 - 35 4736 c.4317C>T c.(4315-4317)agC>agT p.S1439S SLIT3_ENST00000404867.3_Silent_p.S1439S|SLIT3_ENST00000332966.8_Silent_p.S1446S NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1439 EGF-like 9. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTGCTCGCCGCTAAAGCCGG 0.582000 9 15 0 0 0.004482 0 0 PRAC1 84366 broad.mit.edu 37 17 46799746 46799746 + Nonsense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:46799746G>T ENST00000290294.3 - 1 138 c.9C>A c.(7-9)tgC>tgA p.C3* NM_032391.2 NP_115767.1 Q96KF2 PRAC_HUMAN 3 nucleus kidney(1)|lung(2) 3 AGAAATGGGCGCACAACATCG 0.532000 23 13 6.21321e-17 9.83759e-17 0.002780 1 0 CCKAR 886 broad.mit.edu 37 4 26484829 26484829 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr4:26484829C>G ENST00000295589.3 - 4 897 c.703G>C c.(703-705)Gaa>Caa p.E235Q NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor 235 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) TGGTAGAGTTCCAAAGAGATT 0.383000 20 59 0 0 0.010504 0 0 DPP6 1804 broad.mit.edu 37 7 154561225 154561225 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:154561225C>A ENST00000404039.1 + 9 1377 c.790C>A c.(790-792)Ctc>Atc p.L264I DPP6_ENST00000332007.3_Missense_Mutation_p.L266I|DPP6_ENST00000377770.3_Missense_Mutation_p.L328I|DPP6_ENST00000427557.1_Missense_Mutation_p.L221I NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 328 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CATCATGGAGCTCCCAACTTA 0.527000 20 18 8.34094e-07 1.00476e-06 0.008871 1 0 ZFX 7543 broad.mit.edu 37 X 24228809 24228809 + Silent SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:24228809C>T ENST00000379177.1 + 11 2161 c.1734C>T c.(1732-1734)tgC>tgT p.C578C ZFX_ENST00000539115.1_Silent_p.C349C|ZFX_ENST00000379188.3_Silent_p.C578C|ZFX_ENST00000540034.1_Silent_p.C617C|ZFX_ENST00000338565.3_Silent_p.C528C|ZFX_ENST00000304543.5_Silent_p.C578C NM_001178085.1|NM_003410.3 NP_001171556.1|NP_003401.2 P17010 ZFX_HUMAN zinc finger protein, X-linked 578 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1) 24 CGTACCAATGCCAGTACTGCG 0.433000 45 16 0 0 0.011902 0 0 SCLY 51540 broad.mit.edu 37 2 239003163 239003163 + Splice_Site SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:239003163G>T ENST00000254663.6 + 10 1274 c.1132_splice c.e10+1 p.G378_splice SCLY_ENST00000422984.2_Splice_Site_p.G276_splice|SCLY_ENST00000555827.1_Splice_Site_p.G370_splice|SCLY_ENST00000429612.2_Splice_Site_p.G164_splice NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 370 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) CCGGCTTCAAGGTGATGGCCC 0.587000 51 37 4.64027e-19 7.65644e-19 0.003610 1 0 RAVER1 125950 broad.mit.edu 37 19 10444188 10444188 + Missense_Mutation SNP G G A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:10444188G>A ENST00000293677.6 - 1 128 c.47C>T c.(46-48)cCc>cTc p.P16L NM_133452.2 NP_597709.2 Q8IY67 RAVR1_HUMAN ribonucleoprotein, PTB-binding 1 0 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) CGCCATCTTGGGAAACCCGGC 0.716000 26 5 0 0 0.003954 0 0 PTPRB 5787 broad.mit.edu 37 12 70949882 70949882 + Silent SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:70949882C>A ENST00000334414.6 - 19 4805 c.4761G>T c.(4759-4761)acG>acT p.T1587T PTPRB_ENST00000550857.1_Silent_p.T1279T|PTPRB_ENST00000451516.2_Silent_p.T1279T|PTPRB_ENST00000550358.1_Silent_p.T1499T|PTPRB_ENST00000261266.5_Silent_p.T1369T|PTPRB_ENST00000538708.1_Silent_p.T1279T NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1369 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) AGGCAATGGCCGTGGAGTTCT 0.443000 23 20 7.87624e-14 1.16061e-13 0.002780 1 0 POTEC 388468 broad.mit.edu 37 18 14533109 14533109 + Missense_Mutation SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:14533109G>T ENST00000358970.5 - 5 1005 c.1006C>A c.(1006-1008)Cta>Ata p.L336I POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 336 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TGTCCAGATAGATCTTGAGAA 0.368000 23 64 3.69857e-22 6.40608e-22 0.008361 1 0 CADM3 57863 broad.mit.edu 37 1 159163275 159163275 + Missense_Mutation SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:159163275A>T ENST00000368125.4 + 4 602 c.445A>T c.(445-447)Acc>Tcc p.T149S CADM3_ENST00000368124.4_Missense_Mutation_p.T183S NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 149 Ig-like C2-type 1. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGACACAGCCACCCTAAACTG 0.527000 36 29 0 0 0.003755 0 0 DIDO1 11083 broad.mit.edu 37 20 61542655 61542655 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:61542655C>A ENST00000266070.4 - 3 635 c.310G>T c.(310-312)Gcc>Tcc p.A104S DIDO1_ENST00000370368.1_Missense_Mutation_p.A104S|DIDO1_ENST00000370366.1_Missense_Mutation_p.A104S|DIDO1_ENST00000370371.4_Missense_Mutation_p.A104S|DIDO1_ENST00000395340.1_Missense_Mutation_p.A104S|DIDO1_ENST00000395335.2_Missense_Mutation_p.A104S|DIDO1_ENST00000266071.5_Missense_Mutation_p.A104S|DIDO1_ENST00000354665.4_Missense_Mutation_p.A104S|DIDO1_ENST00000395343.1_Missense_Mutation_p.A104S NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 104 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) GCGTCTGTGGCGGGGCAGGAC 0.662000 17 20 1.5739e-10 2.09075e-10 0.004007 1 0 ROR1 4919 broad.mit.edu 37 1 64644039 64644039 + Missense_Mutation SNP C C A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:64644039C>A ENST00000371079.1 + 9 2690 c.2315C>A c.(2314-2316)tCc>tAc p.S772Y ROR1_ENST00000545203.1_Missense_Mutation_p.S223Y NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 772 Ser/Thr-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CAGACAACCTCCCTCAGTGCC 0.512000 16 29 1.3612e-06 1.62877e-06 0.003163 1 0 SPACA7 122258 broad.mit.edu 37 13 113052421 113052421 + Silent SNP A A G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr13:113052421A>G ENST00000375699.3 + 2 289 c.117A>G c.(115-117)ccA>ccG p.P39P SPACA7_ENST00000283550.3_Silent_p.P70P Q96KW9 SPAC7_HUMAN sperm acrosome associated 7 70 extracellular region large_intestine(5)|lung(4)|skin(3)|urinary_tract(1) 13 GCGAAATGCCAAGTACAGCAT 0.448000 18 34 0 0 0.012319 0 0 DSEL 92126 broad.mit.edu 37 18 65181399 65181399 + Missense_Mutation SNP C C T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:65181399C>T ENST00000310045.7 - 2 1950 c.477G>A c.(475-477)atG>atA p.M159I NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 149 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) CCATCCTGTCCATATATTCCA 0.418000 11 45 0 0 0.001368 0 0 CLCN1 1180 broad.mit.edu 37 7 143016925 143016925 + Silent SNP T T C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:143016925T>C ENST00000343257.2 + 2 345 c.258T>C c.(256-258)tcT>tcC p.S86S NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 86 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) GCTCCAGTTCTACCGTGGACA 0.458000 36 60 0 0 0.006230 0 0 TPR 7175 broad.mit.edu 37 1 186316584 186316584 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:186316584delG ENST00000367478.3 - 22 3079 c.2783delC c.(2782-2784)ctfs p.P928fs NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 928 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTTGTTGCTAGGCTGACCTAA 0.353 T NTRK1 papillary thyroid 48 80 --- --- --- --- LINC00303 284573 broad.mit.edu 37 1 204010293 204010294 + RNA INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr1:204010293_204010294insA ENST00000367207.3 - 0 99_100 agcaaacaagcaaaaaacaaGA 0.470 3 3 --- --- --- --- SRD5A2 6716 broad.mit.edu 37 2 31754310 31754310 + RNA DEL G G - rs28383067 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:31754310delG ENST00000405650.1 - 0 864 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) CTTCCTCTGCGGGTTAAAAGC 0.398 6 3 --- --- --- --- CRIM1 51232 broad.mit.edu 37 2 36668413 36668414 + Frame_Shift_Ins INS - - T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:36668413_36668414insT ENST00000280527.2 + 3 885_886 c.518_519insT c.(517-519)gtgfs p.V173fs NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 173 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GAGAAGCCAGATTGCTCCAAGG 0.485 19 58 --- --- --- --- IGKV1-9 28941 broad.mit.edu 37 2 89309746 89309747 + RNA INS - - T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:89309746_89309747insT ENST00000493819.1 - 0 140_141 AGGATGGAGACTGGGTCAACTG 0.455 117 119 --- --- --- --- GLI2 2736 broad.mit.edu 37 2 121726466 121726466 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:121726466delG ENST00000452319.1 + 6 880 c.820delG c.(820-822)ggfs p.G274fs GLI2_ENST00000361492.4_Frame_Shift_Del_p.G274fs|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 274 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) CGGTTCCTACGGGCATCTGTC 0.667 13 20 --- --- --- --- CCDC148 130940 broad.mit.edu 37 2 159170324 159170325 + Frame_Shift_Ins INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:159170324_159170325insA ENST00000283233.5 - 8 1159_1160 c.846_847insT c.(844-849)agctctfs p.S283fs CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.S292fs|CCDC148_ENST00000536771.1_Frame_Shift_Ins_p.S197fs NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 283 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGATACAGAGTCCTTCTTCCAA 0.386 24 28 --- --- --- --- ITGB6 3694 broad.mit.edu 37 2 161029162 161029162 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:161029162delC ENST00000283249.2 - 6 1076 c.839delG c.(838-840)acfs p.S280fs ITGB6_ENST00000428609.2_Frame_Shift_Del_p.S238fs|ITGB6_ENST00000409967.2_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000409872.1_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000485635.1_5'UTR P18564 ITB6_HUMAN integrin, beta 6 280 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TGCTAGTTTGCTGTCCATTCC 0.458 46 150 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201438598 201438598 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:201438598delG ENST00000357799.4 + 7 3627 c.3529delG c.(3529-3531)ccfs p.A1177fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 1177 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AGAAAATTTTGCCTTGGAGTG 0.373 7 34 --- --- --- --- ZDBF2 57683 broad.mit.edu 37 2 207175526 207175531 + In_Frame_Del DEL GCAGGA GCAGGA - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr2:207175526_207175531delGCAGGA ENST00000374423.3 + 5 6660_6665 c.6274_6279delGCAGGA c.(6274-6279)del p.AG2092del NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2092 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 AAACTCCAGTGCAGGAGATAATGATG 0.437 29 48 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89390993 89390993 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:89390993delC ENST00000336596.2 + 5 1284 c.1059delC c.(1057-1059)ggfs p.G353fs EPHA3_ENST00000494014.1_Frame_Shift_Del_p.G353fs|EPHA3_ENST00000452448.2_Frame_Shift_Del_p.G353fs NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 353 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACACAGGAGGCCGGAAAGATG 0.458 TSP Lung(6;0.00050) 14 58 --- --- --- --- LOC101243545 101243545 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 3 4 --- --- --- --- ADCY2 108 broad.mit.edu 37 5 7690857 7690857 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:7690857delG ENST00000338316.4 + 5 863 c.774delG c.(772-774)gcfs p.A258fs ADCY2_ENST00000537121.1_Frame_Shift_Del_p.A78fs|ADCY2_ENST00000513693.1_3'UTR NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 258 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AGATGAAAGCGGAGATCATCC 0.572 10 99 --- --- --- --- CYSTM1 84418 broad.mit.edu 37 5 139574143 139574143 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:139574143delG ENST00000261811.4 + 2 757 c.93delG c.(91-93)atfs p.M31fs CYSTM1_ENST00000509789.2_Intron NM_032412.3 NP_115788.1 Q9H1C7 CE032_HUMAN cysteine-rich transmembrane module containing 1 31 Pro-rich. CAGGACCTATGGGGGGACCCT 0.597 38 21 --- --- --- --- PCDHA13 56136 broad.mit.edu 37 5 140263635 140263636 + Frame_Shift_Del DEL GC GC - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr5:140263635_140263636delGC ENST00000289272.2 + 1 1782_1783 c.1782_1783delGC c.(1780-1785)gtgcfs p.VR594fs PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Frame_Shift_Del_p.VR594fs|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCGAAGGTGCGCGCGGTGGA 0.708 56 42 --- --- --- --- TAAR5 9038 broad.mit.edu 37 6 132910408 132910408 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:132910408delG ENST00000258034.2 - 1 469 c.418delC c.(418-420)tgfs p.L141fs NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 141 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGATAGAGCAGGGGGTCACAG 0.562 33 14 --- --- --- --- HIVEP2 3097 broad.mit.edu 37 6 143095484 143095485 + Frame_Shift_Ins INS - - C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr6:143095484_143095485insC ENST00000367603.2 - 5 1133_1134 c.391_392insG c.(391-393)atcfs p.I131fs HIVEP2_ENST00000367604.1_Frame_Shift_Ins_p.I131fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.I131fs NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGCAACGGATGGCAAAGGGCCA 0.505 58 28 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300804 74300804 + RNA DEL A A - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:74300804delA ENST00000423186.1 - 0 499 P0CL84 ST3L2_HUMAN nucleus binding breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CTTCATACTTAAAAAAAAAAA 0.458 2 4 --- --- --- --- CHRM2 1129 broad.mit.edu 37 7 136700754 136700754 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:136700754delG ENST00000445907.2 + 3 1670 c.1142delG c.(1141-1143)cgfs p.R381fs AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000397608.3_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|CHRM2_ENST00000320658.5_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000402486.3_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Del_p.R381fs NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 381 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.R381Q(1)|p.R381L(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCTCCTTCCCGGGAAAAGAAA 0.458 26 81 --- --- --- --- CLCN1 1180 broad.mit.edu 37 7 143016952 143016956 + Frame_Shift_Del DEL CTATT CTATT - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:143016952_143016956delCTATT ENST00000343257.2 + 2 372_376 c.285_289delCTATT c.(283-291)cactfs p.HYS95fs NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 95 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATGAGGATCACTATTCTAAATGTCA 0.468 36 69 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151927043 151927044 + Frame_Shift_Del DEL CA CA - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr7:151927043_151927044delCA ENST00000355193.2 - 18 3158_3159 c.2940_2941delTG c.(2938-2943)tggtfs p.CG980fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.CG980fs lysine (K)-specific methyltransferase 2C TAACACTGACCACACTGAGAAC 0.332 10 97 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 13356745 13356746 + Frame_Shift_Del DEL AG AG - rs149040092 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:13356745_13356746delAG ENST00000276297.4 - 2 1244_1245 c.835_836delCT c.(835-837)gfs p.L279fs DLC1_ENST00000511869.1_Frame_Shift_Del_p.L279fs|DLC1_ENST00000316609.5_Frame_Shift_Del_p.L279fs NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 279 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AGGAGGCTGCAGAAGGCAGCTT 0.436 82 31 --- --- --- --- DCAF4L2 138009 broad.mit.edu 37 8 88885535 88885536 + Frame_Shift_Ins INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr8:88885535_88885536insA ENST00000319675.3 - 1 760_761 c.664_665insT c.(664-666)gacfs p.D222fs NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 222 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACTGCTAGTCCCAAATGACTGC 0.530 115 115 --- --- --- --- SPATA31E1 286234 broad.mit.edu 37 9 90502661 90502661 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr9:90502661delC ENST00000325643.5 + 4 3325 c.3259delC c.(3259-3261)cafs p.P1087fs NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TGCTCAGGATCCAGAGCAGCT 0.607 16 24 --- --- --- --- OR10Q1 219960 broad.mit.edu 37 11 57995623 57995624 + Frame_Shift_Ins INS - - C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:57995623_57995624insC ENST00000316770.2 - 1 766_767 c.724_725insG c.(724-726)cttfs p.L242fs NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) GGTGGAGAAGGCCCGGCGGCGG 0.629 23 37 --- --- --- --- NAALAD2 10003 broad.mit.edu 37 11 89883769 89883769 + Frame_Shift_Del DEL A A - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:89883769delA ENST00000534061.1 + 5 833 c.603delA c.(601-603)ggfs p.G201fs NAALAD2_ENST00000375944.3_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000321955.4_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000525171.1_Frame_Shift_Del_p.G201fs NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 201 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCTTCAGAGGAAATAAAGTAC 0.333 14 12 --- --- --- --- HEPHL1 341208 broad.mit.edu 37 11 93800808 93800808 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr11:93800808delC ENST00000315765.9 + 5 963 c.955delC c.(955-957)ggfs p.R319fs NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 319 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CAGAGGGCATCGGACTGATGT 0.473 38 122 --- --- --- --- DBX2 440097 broad.mit.edu 37 12 45410154 45410154 + Frame_Shift_Del DEL G G - rs143163650 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:45410154delG ENST00000332700.6 - 4 1106 c.935delC c.(934-936)cafs p.P312fs NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 312 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) ATTTGCTTCTGGGGGTGGTGC 0.488 35 52 --- --- --- --- CAND1 55832 broad.mit.edu 37 12 67699690 67699691 + Frame_Shift_Ins INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr12:67699690_67699691insA ENST00000545606.1 + 10 2679_2680 c.2242_2243insA c.(2242-2244)gggfs p.G748fs NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 748 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ACCCTTATTGCAGGGGGGAGCT 0.421 47 88 --- --- --- --- LRFN5 145581 broad.mit.edu 37 14 42356666 42356678 + Frame_Shift_Del DEL GAAGAGTTTTTGT GAAGAGTTTTTGT - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:42356666_42356678delGAAGAGTTTTTGT ENST00000554171.1 + 5 3270_3282 c.838_850delGAAGAGTTTTTGT c.(838-852)gtfs p.EEFLC280fs LRFN5_ENST00000554120.1_Frame_Shift_Del_p.EEFLC280fs|LRFN5_ENST00000298119.4_Frame_Shift_Del_p.EEFLC280fs Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 280 LRRCT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AATTCCTGAAGAAGAGTTTTTGTGTGAGCCTCC 0.498 HNSCC(30;0.082) 38 49 --- --- --- --- PSEN1 5663 broad.mit.edu 37 14 73683908 73683908 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr14:73683908delG ENST00000324501.5 + 11 1476 c.1204delG c.(1204-1206)gafs p.G402fs PSEN1_ENST00000557511.1_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000406768.1_Frame_Shift_Del_p.G310fs|PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000261970.3_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000357710.4_Frame_Shift_Del_p.G398fs|PSEN1_ENST00000394164.1_Frame_Shift_Del_p.G398fs NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 402 Required for interaction with CTNNB1. 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) AACAGCCAGTGGAGACTGGAA 0.373 25 30 --- --- --- --- NPAP1 23742 broad.mit.edu 37 15 24922831 24922832 + Frame_Shift_Ins INS - - T rs148519074 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr15:24922831_24922832insT ENST00000329468.2 + 1 2291_2292 c.1817_1818insT c.(1816-1818)ctgfs p.L606fs NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCCCAAATACATTGCAGTGCAG 0.446 31 40 --- --- --- --- GPR139 124274 broad.mit.edu 37 16 20043242 20043242 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr16:20043242delG ENST00000570682.1 - 2 1177 c.877delC c.(877-879)gcfs p.R293fs NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 293 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 GCCATGGTGCGGAACCGCTTG 0.512 57 78 --- --- --- --- SMG6 23293 broad.mit.edu 37 17 2091784 2091785 + Frame_Shift_Del DEL AG AG - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:2091784_2091785delAG ENST00000544865.1 - 11 3311_3312 c.2801_2802delCT c.(2800-2802)tfs p.S934fs SMG6_ENST00000354901.4_Frame_Shift_Del_p.S57fs|SMG6_ENST00000263073.5_Frame_Shift_Del_p.S965fs|SMG6_ENST00000536871.2_Frame_Shift_Del_p.S57fs Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 965 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CCTGGATCACAGAGCGGCACTC 0.584 26 40 --- --- --- --- LOC100287072 100287072 broad.mit.edu 37 17 20625382 20625382 + RNA DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:20625382delC ENST00000578210.1 + 0 497 NR_073509.1 GGCTTTGGGGCATTTACATCA 0.353 17 37 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62049987 62049987 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr17:62049987delG ENST00000578147.1 - 1 291 c.215delC c.(214-216)cgfs p.P73fs SCN4A_ENST00000435607.1_Frame_Shift_Del_p.P73fs P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 73 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GACCTCCGGCGGGGGGTCTCC 0.582 9 6 --- --- --- --- SMIM21 284274 broad.mit.edu 37 18 73139420 73139420 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr18:73139420delC ENST00000584508.1 - 1 217 c.99delG c.(97-99)ggfs p.G33fs SMIM21_ENST00000382638.3_Frame_Shift_Del_p.G33fs|SMIM21_ENST00000579022.1_Frame_Shift_Del_p.G33fs small integral membrane protein 21 GCAGCAAATTCCCCTTGAATA 0.463 75 67 --- --- --- --- DMKN 93099 broad.mit.edu 37 19 35993771 35993771 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr19:35993771delG ENST00000339686.3 - 10 1328 c.1152delC c.(1150-1152)ccfs p.P384fs DMKN_ENST00000472252.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000414866.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000402589.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000419602.1_Frame_Shift_Del_p.P373fs|DMKN_ENST00000443640.1_Frame_Shift_Del_p.P147fs|DMKN_ENST00000429837.1_Frame_Shift_Del_p.P343fs|DMKN_ENST00000467637.1_Frame_Shift_Del_p.P109fs|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000436012.1_Frame_Shift_Del_p.P80fs|DMKN_ENST00000492341.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000602781.1_Frame_Shift_Del_p.P97fs NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 384 extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTCGGGTGCTGGGGGGCGGGA 0.622 15 66 --- --- --- --- HELZ2 85441 broad.mit.edu 37 20 62194534 62194534 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr20:62194534delC ENST00000467148.1 - 8 5710 c.5641delG c.(5641-5643)acfs p.D1881fs HELZ2_ENST00000427522.2_Frame_Shift_Del_p.D1312fs NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TGCAGGGTGTCCCCACTGCCC 0.701 6 11 --- --- --- --- TPTEP1 387590 broad.mit.edu 37 22 17131430 17131432 + RNA DEL CAC CAC - rs142037179 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chr22:17131430_17131432delCAC ENST00000426585.1 + 0 2456_2458 caccatccatcaccaacagaaac 0.443 3 6 --- --- --- --- ARHGAP4 393 broad.mit.edu 37 X 153187084 153187084 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4f188cc7-3bfc-4f26-90f9-8ccb7418bc6d g.chrX:153187084delC ENST00000370028.3 - 2 303 c.246delG c.(244-246)ggfs p.G82fs ARHGAP4_ENST00000537206.1_Frame_Shift_Del_p.G59fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000393721.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000350060.5_Frame_Shift_Del_p.G82fs NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 82 FCH. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGGCTGCTCCCCAGGCGGC 0.692 23 5 --- --- --- --- TPR 7175 broad.mit.edu 37 1 186316584 186316584 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:186316584delG ENST00000367478.3 - 22 3079 c.2783delC c.(2782-2784)ctfs p.P928fs NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 928 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTTGTTGCTAGGCTGACCTAA 0.353 T NTRK1 papillary thyroid 48 80 --- --- --- --- LINC00303 284573 broad.mit.edu 37 1 204010293 204010294 + RNA INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr1:204010293_204010294insA ENST00000367207.3 - 0 99_100 agcaaacaagcaaaaaacaaGA 0.470 3 3 --- --- --- --- SRD5A2 6716 broad.mit.edu 37 2 31754310 31754310 + RNA DEL G G - rs28383067 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:31754310delG ENST00000405650.1 - 0 864 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) CTTCCTCTGCGGGTTAAAAGC 0.398 6 3 --- --- --- --- CRIM1 51232 broad.mit.edu 37 2 36668413 36668414 + Frame_Shift_Ins INS - - T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:36668413_36668414insT ENST00000280527.2 + 3 885_886 c.518_519insT c.(517-519)gtgfs p.V173fs NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 173 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) GAGAAGCCAGATTGCTCCAAGG 0.485 19 58 --- --- --- --- IGKV1-9 28941 broad.mit.edu 37 2 89309746 89309747 + RNA INS - - T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:89309746_89309747insT ENST00000493819.1 - 0 140_141 AGGATGGAGACTGGGTCAACTG 0.455 117 119 --- --- --- --- GLI2 2736 broad.mit.edu 37 2 121726466 121726466 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:121726466delG ENST00000452319.1 + 6 880 c.820delG c.(820-822)ggfs p.G274fs GLI2_ENST00000361492.4_Frame_Shift_Del_p.G274fs|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 274 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) CGGTTCCTACGGGCATCTGTC 0.667 13 20 --- --- --- --- CCDC148 130940 broad.mit.edu 37 2 159170324 159170325 + Frame_Shift_Ins INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:159170324_159170325insA ENST00000283233.5 - 8 1159_1160 c.846_847insT c.(844-849)agctctfs p.S283fs CCDC148_ENST00000409187.1_Frame_Shift_Ins_p.S292fs|CCDC148_ENST00000536771.1_Frame_Shift_Ins_p.S197fs NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 283 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 AGATACAGAGTCCTTCTTCCAA 0.386 24 28 --- --- --- --- ITGB6 3694 broad.mit.edu 37 2 161029162 161029162 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:161029162delC ENST00000283249.2 - 6 1076 c.839delG c.(838-840)acfs p.S280fs ITGB6_ENST00000428609.2_Frame_Shift_Del_p.S238fs|ITGB6_ENST00000409967.2_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000409872.1_Frame_Shift_Del_p.S280fs|ITGB6_ENST00000485635.1_5'UTR P18564 ITB6_HUMAN integrin, beta 6 280 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TGCTAGTTTGCTGTCCATTCC 0.458 46 150 --- --- --- --- SGOL2 151246 broad.mit.edu 37 2 201438598 201438598 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:201438598delG ENST00000357799.4 + 7 3627 c.3529delG c.(3529-3531)ccfs p.A1177fs NM_001160033.1|NM_001160046.1|NM_152524.5 NP_001153505.1|NP_001153518.1|NP_689737.4 Q562F6 SGOL2_HUMAN shugoshin-like 2 (S. pombe) 1177 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol|mitotic cohesin complex protein binding NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 46 AGAAAATTTTGCCTTGGAGTG 0.373 7 34 --- --- --- --- ZDBF2 57683 broad.mit.edu 37 2 207175526 207175531 + In_Frame_Del DEL GCAGGA GCAGGA - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr2:207175526_207175531delGCAGGA ENST00000374423.3 + 5 6660_6665 c.6274_6279delGCAGGA c.(6274-6279)del p.AG2092del NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 2092 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 AAACTCCAGTGCAGGAGATAATGATG 0.437 29 48 --- --- --- --- EPHA3 2042 broad.mit.edu 37 3 89390993 89390993 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:89390993delC ENST00000336596.2 + 5 1284 c.1059delC c.(1057-1059)ggfs p.G353fs EPHA3_ENST00000494014.1_Frame_Shift_Del_p.G353fs|EPHA3_ENST00000452448.2_Frame_Shift_Del_p.G353fs NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 353 Fibronectin type-III 1. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACACAGGAGGCCGGAAAGATG 0.458 TSP Lung(6;0.00050) 14 58 --- --- --- --- LOC101243545 101243545 broad.mit.edu 37 3 161146872 161146873 + RNA DEL AT AT - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr3:161146872_161146873delAT ENST00000473595.1 + 0 1231 NR_102265.1 TGGTGAAAAGATATATATATAT 0.342 3 4 --- --- --- --- ADCY2 108 broad.mit.edu 37 5 7690857 7690857 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:7690857delG ENST00000338316.4 + 5 863 c.774delG c.(772-774)gcfs p.A258fs ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Frame_Shift_Del_p.A78fs NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 258 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 AGATGAAAGCGGAGATCATCC 0.572 10 99 --- --- --- --- CYSTM1 84418 broad.mit.edu 37 5 139574143 139574143 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:139574143delG ENST00000261811.4 + 2 757 c.93delG c.(91-93)atfs p.M31fs CYSTM1_ENST00000509789.2_Intron NM_032412.3 NP_115788.1 Q9H1C7 CE032_HUMAN cysteine-rich transmembrane module containing 1 31 Pro-rich. CAGGACCTATGGGGGGACCCT 0.597 38 21 --- --- --- --- PCDHA13 56136 broad.mit.edu 37 5 140263635 140263636 + Frame_Shift_Del DEL GC GC - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr5:140263635_140263636delGC ENST00000289272.2 + 1 1782_1783 c.1782_1783delGC c.(1780-1785)gtgcfs p.VR594fs PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Frame_Shift_Del_p.VR594fs|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGCGAAGGTGCGCGCGGTGGA 0.708 56 42 --- --- --- --- TAAR5 9038 broad.mit.edu 37 6 132910408 132910408 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:132910408delG ENST00000258034.2 - 1 469 c.418delC c.(418-420)tgfs p.L141fs NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 141 synaptic transmission integral to plasma membrane G-protein coupled receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GGATAGAGCAGGGGGTCACAG 0.562 33 14 --- --- --- --- HIVEP2 3097 broad.mit.edu 37 6 143095484 143095485 + Frame_Shift_Ins INS - - C TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr6:143095484_143095485insC ENST00000367603.2 - 5 1133_1134 c.391_392insG c.(391-393)atcfs p.I131fs HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.I131fs|HIVEP2_ENST00000367604.1_Frame_Shift_Ins_p.I131fs NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) GGCAACGGATGGCAAAGGGCCA 0.505 58 28 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 2 4 --- --- --- --- CHRM2 1129 broad.mit.edu 37 7 136700754 136700754 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:136700754delG ENST00000445907.2 + 3 1670 c.1142delG c.(1141-1143)cgfs p.R381fs AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000453373.1_Frame_Shift_Del_p.R381fs|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000397608.3_Frame_Shift_Del_p.R381fs|CHRM2_ENST00000402486.3_Frame_Shift_Del_p.R381fs|CHRM2_ENST00000320658.5_Frame_Shift_Del_p.R381fs NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 381 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.R381Q(1)|p.R381L(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) CCTCCTTCCCGGGAAAAGAAA 0.458 26 81 --- --- --- --- CLCN1 1180 broad.mit.edu 37 7 143016952 143016956 + Frame_Shift_Del DEL CTATT CTATT - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:143016952_143016956delCTATT ENST00000343257.2 + 2 372_376 c.285_289delCTATT c.(283-291)cactfs p.HYS95fs NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 95 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) ATGAGGATCACTATTCTAAATGTCA 0.468 36 69 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151927043 151927044 + Frame_Shift_Del DEL CA CA - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr7:151927043_151927044delCA ENST00000355193.2 - 18 3158_3159 c.2940_2941delTG c.(2938-2943)tggtfs p.CG980fs KMT2C_ENST00000262189.6_Frame_Shift_Del_p.CG980fs lysine (K)-specific methyltransferase 2C TAACACTGACCACACTGAGAAC 0.332 10 97 --- --- --- --- DLC1 10395 broad.mit.edu 37 8 13356745 13356746 + Frame_Shift_Del DEL AG AG - rs149040092 byFrequency TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:13356745_13356746delAG ENST00000276297.4 - 2 1244_1245 c.835_836delCT c.(835-837)gfs p.L279fs DLC1_ENST00000511869.1_Frame_Shift_Del_p.L279fs|DLC1_ENST00000316609.5_Frame_Shift_Del_p.L279fs NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 279 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 AGGAGGCTGCAGAAGGCAGCTT 0.436 82 31 --- --- --- --- DCAF4L2 138009 broad.mit.edu 37 8 88885535 88885536 + Frame_Shift_Ins INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr8:88885535_88885536insA ENST00000319675.3 - 1 760_761 c.664_665insT c.(664-666)gacfs p.D222fs NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 222 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 ACTGCTAGTCCCAAATGACTGC 0.530 115 115 --- --- --- --- SPATA31E1 286234 broad.mit.edu 37 9 90502661 90502661 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr9:90502661delC ENST00000325643.5 + 4 3325 c.3259delC c.(3259-3261)cafs p.P1087fs NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TGCTCAGGATCCAGAGCAGCT 0.607 16 24 --- --- --- --- NAALAD2 10003 broad.mit.edu 37 11 89883769 89883769 + Frame_Shift_Del DEL A A - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:89883769delA ENST00000534061.1 + 5 833 c.603delA c.(601-603)ggfs p.G201fs NAALAD2_ENST00000375944.3_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000321955.4_Frame_Shift_Del_p.G201fs|NAALAD2_ENST00000525171.1_Frame_Shift_Del_p.G201fs NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 201 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) TCTTCAGAGGAAATAAAGTAC 0.333 14 12 --- --- --- --- HEPHL1 341208 broad.mit.edu 37 11 93800808 93800808 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr11:93800808delC ENST00000315765.9 + 5 963 c.955delC c.(955-957)ggfs p.R319fs NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 319 Plastocyanin-like 2. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CAGAGGGCATCGGACTGATGT 0.473 38 122 --- --- --- --- DBX2 440097 broad.mit.edu 37 12 45410154 45410154 + Frame_Shift_Del DEL G G - rs143163650 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:45410154delG ENST00000332700.6 - 4 1106 c.935delC c.(934-936)cafs p.P312fs NM_001004329.2 NP_001004329.2 Q6ZNG2 DBX2_HUMAN developing brain homeobox 2 312 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) ATTTGCTTCTGGGGGTGGTGC 0.488 35 52 --- --- --- --- CAND1 55832 broad.mit.edu 37 12 67699690 67699691 + Frame_Shift_Ins INS - - A TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr12:67699690_67699691insA ENST00000545606.1 + 10 2679_2680 c.2242_2243insA c.(2242-2244)gggfs p.G748fs NM_018448.3 NP_060918.2 Q86VP6 CAND1_HUMAN cullin-associated and neddylation-dissociated 1 748 cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1) 35 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) ACCCTTATTGCAGGGGGGAGCT 0.421 47 88 --- --- --- --- LRFN5 145581 broad.mit.edu 37 14 42356666 42356678 + Frame_Shift_Del DEL GAAGAGTTTTTGT GAAGAGTTTTTGT - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:42356666_42356678delGAAGAGTTTTTGT ENST00000554171.1 + 5 3270_3282 c.838_850delGAAGAGTTTTTGT c.(838-852)gtfs p.EEFLC280fs LRFN5_ENST00000298119.4_Frame_Shift_Del_p.EEFLC280fs|LRFN5_ENST00000554120.1_Frame_Shift_Del_p.EEFLC280fs Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III domain containing 5 280 LRRCT. integral to membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2) 120 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) AATTCCTGAAGAAGAGTTTTTGTGTGAGCCTCC 0.498 HNSCC(30;0.082) 38 49 --- --- --- --- PSEN1 5663 broad.mit.edu 37 14 73683908 73683908 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr14:73683908delG ENST00000324501.5 + 11 1476 c.1204delG c.(1204-1206)gafs p.G402fs PSEN1_ENST00000344094.3_3'UTR|PSEN1_ENST00000557511.1_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000394164.1_Frame_Shift_Del_p.G398fs|PSEN1_ENST00000406768.1_Frame_Shift_Del_p.G310fs|PSEN1_ENST00000261970.3_Frame_Shift_Del_p.G344fs|PSEN1_ENST00000357710.4_Frame_Shift_Del_p.G398fs NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 402 Required for interaction with CTNNB1. 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) AACAGCCAGTGGAGACTGGAA 0.373 25 30 --- --- --- --- NPAP1 23742 broad.mit.edu 37 15 24922831 24922832 + Frame_Shift_Ins INS - - T rs148519074 TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr15:24922831_24922832insT ENST00000329468.2 + 1 2291_2292 c.1817_1818insT c.(1816-1818)ctgfs p.L606fs NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TCCCAAATACATTGCAGTGCAG 0.446 31 40 --- --- --- --- GPR139 124274 broad.mit.edu 37 16 20043242 20043242 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr16:20043242delG ENST00000570682.1 - 2 1177 c.877delC c.(877-879)gcfs p.R293fs NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 293 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 GCCATGGTGCGGAACCGCTTG 0.512 57 78 --- --- --- --- SMG6 23293 broad.mit.edu 37 17 2091784 2091785 + Frame_Shift_Del DEL AG AG - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:2091784_2091785delAG ENST00000544865.1 - 11 3311_3312 c.2801_2802delCT c.(2800-2802)tfs p.S934fs SMG6_ENST00000536871.2_Frame_Shift_Del_p.S57fs|SMG6_ENST00000263073.5_Frame_Shift_Del_p.S965fs|SMG6_ENST00000354901.4_Frame_Shift_Del_p.S57fs Q86US8 EST1A_HUMAN SMG6 nonsense mediated mRNA decay factor 965 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 CCTGGATCACAGAGCGGCACTC 0.584 26 40 --- --- --- --- LOC100287072 100287072 broad.mit.edu 37 17 20625382 20625382 + RNA DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:20625382delC ENST00000578210.1 + 0 497 NR_073509.1 GGCTTTGGGGCATTTACATCA 0.353 17 37 --- --- --- --- SCN4A 6329 broad.mit.edu 37 17 62049987 62049987 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr17:62049987delG ENST00000435607.1 - 1 291 c.215delC c.(214-216)cgfs p.P73fs SCN4A_ENST00000578147.1_Frame_Shift_Del_p.P73fs NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 73 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GACCTCCGGCGGGGGGTCTCC 0.582 9 6 --- --- --- --- SMIM21 284274 broad.mit.edu 37 18 73139420 73139420 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr18:73139420delC ENST00000584508.1 - 1 217 c.99delG c.(97-99)ggfs p.G33fs SMIM21_ENST00000579022.1_Frame_Shift_Del_p.G33fs|SMIM21_ENST00000382638.3_Frame_Shift_Del_p.G33fs small integral membrane protein 21 GCAGCAAATTCCCCTTGAATA 0.463 75 67 --- --- --- --- DMKN 93099 broad.mit.edu 37 19 35993771 35993771 + Frame_Shift_Del DEL G G - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr19:35993771delG ENST00000339686.3 - 10 1328 c.1152delC c.(1150-1152)ccfs p.P384fs DMKN_ENST00000414866.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000402589.2_Frame_Shift_Del_p.P97fs|DMKN_ENST00000492341.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000419602.1_Frame_Shift_Del_p.P373fs|DMKN_ENST00000472252.2_Frame_Shift_Del_p.P31fs|DMKN_ENST00000602781.1_Frame_Shift_Del_p.P97fs|DMKN_ENST00000443640.1_Frame_Shift_Del_p.P147fs|DMKN_ENST00000429837.1_Frame_Shift_Del_p.P343fs|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000467637.1_Frame_Shift_Del_p.P109fs|DMKN_ENST00000436012.1_Frame_Shift_Del_p.P80fs NM_033317.4 NP_201574.3 Q6E0U4 DMKN_HUMAN dermokine 384 extracellular region NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2) 27 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CTCGGGTGCTGGGGGGCGGGA 0.622 15 66 --- --- --- --- HELZ2 85441 broad.mit.edu 37 20 62194534 62194534 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chr20:62194534delC ENST00000467148.1 - 8 5710 c.5641delG c.(5641-5643)acfs p.D1881fs HELZ2_ENST00000427522.2_Frame_Shift_Del_p.D1312fs NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator TGCAGGGTGTCCCCACTGCCC 0.701 6 11 --- --- --- --- ARHGAP4 393 broad.mit.edu 37 X 153187084 153187084 + Frame_Shift_Del DEL C C - TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-11A-01D-2036-08 Untested Somatic Phase_I WXS none Illumina GAIIx f6d5ee31-78c9-4f62-98c1-d2993a65e547 4336a4fa-661e-4089-86ad-3f204bb83ca0 g.chrX:153187084delC ENST00000370028.3 - 2 303 c.246delG c.(244-246)ggfs p.G82fs ARHGAP4_ENST00000393721.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000370016.1_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000350060.5_Frame_Shift_Del_p.G82fs|ARHGAP4_ENST00000537206.1_Frame_Shift_Del_p.G59fs NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 82 FCH. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCGGCTGCTCCCCAGGCGGC 0.692 23 5 --- --- --- ---